Mutagenetix > Incidental Mutation

Incidental Mutation 'R0607:Dync2h1'

54282

Institutional Source

Beutler Lab

Gene Symbol

Dync2h1

Ensembl Gene

ENSMUSG00000047193

Gene Name

dynein cytoplasmic 2 heavy chain 1

Synonyms

DHC1b, b2b414Clo, Dnchc2, m407Asp, m152Asp, D030010H02Rik, 4432416O06Rik, DHC2, D330044F14Rik

MMRRC Submission

038796-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6928550-7177619 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7051480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 3152 (S3152A)

Ref Sequence

ENSEMBL: ENSMUSP00000116679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048417] [ENSMUST00000140466] [ENSMUST00000147193]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048417
AA Change: S3152A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046733
Gene: ENSMUSG00000047193
AA Change: S3152A

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	187	676	1.6e-43	PFAM
Pfam:DHC_N2	1117	1523	4.1e-120	PFAM
AAA	1684	1830	3.72e-2	SMART
AAA	1971	2127	2.18e0	SMART
AAA	2283	2431	1.66e0	SMART
low complexity region	2588	2602	N/A	INTRINSIC
Pfam:AAA_8	2618	2881	6.8e-27	PFAM
Pfam:MT	2894	3230	5.4e-28	PFAM
Pfam:AAA_9	3242	3471	1.1e-50	PFAM
Pfam:Dynein_heavy	3605	4304	2.3e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139671

SMART Domains

Protein: ENSMUSP00000116242
Gene: ENSMUSG00000047193

Domain	Start	End	E-Value	Type
low complexity region	59	73	N/A	INTRINSIC
Pfam:AAA_8	89	352	3e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140466
AA Change: S3152A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120007
Gene: ENSMUSG00000047193
AA Change: S3152A

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	187	676	1.6e-43	PFAM
Pfam:DHC_N2	1117	1523	4.1e-120	PFAM
AAA	1684	1830	3.72e-2	SMART
AAA	1971	2127	2.18e0	SMART
AAA	2283	2431	1.66e0	SMART
low complexity region	2588	2602	N/A	INTRINSIC
Pfam:AAA_8	2618	2881	6.8e-27	PFAM
Pfam:MT	2894	3230	5.4e-28	PFAM
Pfam:AAA_9	3242	3471	1.1e-50	PFAM
Pfam:Dynein_heavy	3605	4304	2.3e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147193
AA Change: S3152A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116679
Gene: ENSMUSG00000047193
AA Change: S3152A

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	188	674	4e-45	PFAM
Pfam:DHC_N2	1118	1521	5.5e-111	PFAM
AAA	1684	1830	3.72e-2	SMART
AAA	1971	2127	2.18e0	SMART
AAA	2283	2431	1.66e0	SMART
low complexity region	2588	2602	N/A	INTRINSIC
Pfam:AAA_8	2618	2880	4.4e-27	PFAM
Pfam:MT	2894	3230	1.3e-27	PFAM
Pfam:AAA_9	3246	3477	1e-79	PFAM
Pfam:Dynein_heavy	3618	4310	8.5e-158	PFAM

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, micrognathia, and cardiac, renal, airway and eye defects may be observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,288,625 (GRCm39)	E146G	probably benign	Het
Abca4	G	A	3: 121,950,081 (GRCm39)	G594S	probably damaging	Het
Acacb	T	C	5: 114,338,362 (GRCm39)	Y726H	probably damaging	Het
Adam20	T	A	8: 41,248,517 (GRCm39)	M209K	probably benign	Het
Adam29	A	G	8: 56,326,310 (GRCm39)	V48A	probably damaging	Het
Adss2	A	G	1: 177,595,253 (GRCm39)	V429A	possibly damaging	Het
Aff1	T	C	5: 103,976,320 (GRCm39)	S481P	probably damaging	Het
Akr1c19	G	A	13: 4,288,459 (GRCm39)	A146T	probably benign	Het
Ankhd1	G	T	18: 36,773,333 (GRCm39)	V59F	probably damaging	Het
Ankmy1	T	G	1: 92,816,397 (GRCm39)	Y239S	probably damaging	Het
Ankrd24	G	T	10: 81,474,142 (GRCm39)	C19F	probably damaging	Het
Apaf1	T	C	10: 90,845,065 (GRCm39)	H1002R	probably damaging	Het
Apc2	T	C	10: 80,149,935 (GRCm39)	I1663T	probably benign	Het
Apcdd1	A	G	18: 63,084,967 (GRCm39)	N388S	possibly damaging	Het
Arap2	G	A	5: 62,763,474 (GRCm39)	P1557S	possibly damaging	Het
Armc2	T	A	10: 41,798,691 (GRCm39)	H706L	probably benign	Het
Arrb1	T	C	7: 99,237,403 (GRCm39)		probably null	Het
Atl3	T	C	19: 7,507,031 (GRCm39)		probably null	Het
B9d2	A	G	7: 25,382,757 (GRCm39)	T44A	probably damaging	Het
Btbd3	C	T	2: 138,125,736 (GRCm39)	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193 (GRCm39)	I343T	probably benign	Het
Cacna1a	A	G	8: 85,356,460 (GRCm39)	D1901G	probably damaging	Het
Ccdc42	C	T	11: 68,488,536 (GRCm39)	Q312*	probably null	Het
Cdh18	T	C	15: 23,410,876 (GRCm39)	Y454H	probably benign	Het
Celf5	G	A	10: 81,301,839 (GRCm39)	T317I	probably damaging	Het
Celsr2	A	T	3: 108,311,211 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,414,660 (GRCm39)		probably null	Het
Cep350	T	C	1: 155,747,794 (GRCm39)	D2042G	probably damaging	Het
Chd3	T	C	11: 69,235,184 (GRCm39)	D2054G	probably damaging	Het
Chgb	A	G	2: 132,635,255 (GRCm39)	H399R	probably benign	Het
Clp1	C	T	2: 84,555,935 (GRCm39)	A182T	possibly damaging	Het
Col15a1	A	G	4: 47,282,654 (GRCm39)	N777S	probably damaging	Het
Coq6	A	G	12: 84,415,412 (GRCm39)	D145G	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,108 (GRCm39)	Y325C	probably benign	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cyp4x1	T	A	4: 114,970,023 (GRCm39)	D368V	probably damaging	Het
D430041D05Rik	C	T	2: 104,063,790 (GRCm39)	R1354H	probably damaging	Het
D6Ertd527e	A	C	6: 87,088,887 (GRCm39)	D350A	unknown	Het
Ddx24	A	G	12: 103,385,326 (GRCm39)	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,360,426 (GRCm39)	Y43*	probably null	Het
Dgka	A	G	10: 128,556,338 (GRCm39)		probably null	Het
Dhx38	A	T	8: 110,285,575 (GRCm39)	D419E	probably benign	Het
Dlg1	G	A	16: 31,656,992 (GRCm39)	V596I	possibly damaging	Het
Dlg1	C	A	16: 31,484,398 (GRCm39)	Q9K	probably benign	Het
Dnah11	A	C	12: 118,046,246 (GRCm39)	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,369,995 (GRCm39)	N4473K	probably benign	Het
Egfl7	C	T	2: 26,479,452 (GRCm39)	T68I	probably damaging	Het
Eif2a	G	A	3: 58,463,073 (GRCm39)		probably null	Het
Emb	G	A	13: 117,369,286 (GRCm39)	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,410,386 (GRCm39)	C397S	probably damaging	Het
Entpd3	A	G	9: 120,386,471 (GRCm39)	T151A	possibly damaging	Het
Ero1b	A	G	13: 12,589,747 (GRCm39)	D50G	probably damaging	Het
Fam219a	A	G	4: 41,520,242 (GRCm39)	*169Q	probably null	Het
Fga	G	A	3: 82,935,869 (GRCm39)	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,864,333 (GRCm39)	F34L	probably benign	Het
Fsd2	T	A	7: 81,194,765 (GRCm39)	D466V	probably damaging	Het
Gja1	A	G	10: 56,264,166 (GRCm39)	Y175C	possibly damaging	Het
Gm5478	T	A	15: 101,553,059 (GRCm39)	I338F	probably damaging	Het
Greb1	T	A	12: 16,732,194 (GRCm39)	Y1589F	probably damaging	Het
Grk3	C	T	5: 113,067,919 (GRCm39)	E537K	probably damaging	Het
H2-K2	G	T	17: 34,218,474 (GRCm39)	D127E	probably damaging	Het
Hcrtr2	A	G	9: 76,137,966 (GRCm39)	L383P	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ikbke	A	T	1: 131,197,921 (GRCm39)		probably null	Het
Il1r2	A	G	1: 40,144,615 (GRCm39)	K101E	probably benign	Het
Itga11	A	T	9: 62,681,653 (GRCm39)	H1054L	probably benign	Het
Kif13a	A	T	13: 46,956,187 (GRCm39)	V539D	probably damaging	Het
Kifc1	G	A	17: 34,105,621 (GRCm39)	T62I	probably damaging	Het
Klhl28	A	G	12: 64,998,529 (GRCm39)	Y322H	probably damaging	Het
Klhl6	C	A	16: 19,775,764 (GRCm39)	D265Y	possibly damaging	Het
Krt86	T	A	15: 101,377,412 (GRCm39)	C479S	unknown	Het
Lama2	C	T	10: 27,065,127 (GRCm39)	R1179H	probably benign	Het
Lce6a	A	T	3: 92,527,635 (GRCm39)	H57Q	probably benign	Het
Lcn11	T	C	2: 25,669,305 (GRCm39)	V154A	probably benign	Het
Lnpep	A	T	17: 17,758,816 (GRCm39)	F843I	probably damaging	Het
Lrrc49	C	T	9: 60,573,640 (GRCm39)	V281I	probably benign	Het
Lrrtm1	C	A	6: 77,221,611 (GRCm39)	A356E	probably damaging	Het
Map3k1	A	C	13: 111,900,044 (GRCm39)	H493Q	probably benign	Het
Mcm4	A	T	16: 15,449,979 (GRCm39)		probably null	Het
Mdn1	C	T	4: 32,712,014 (GRCm39)	P1844L	probably damaging	Het
Mdn1	T	A	4: 32,732,829 (GRCm39)	D3076E	probably benign	Het
Med6	A	T	12: 81,635,798 (GRCm39)	L27H	probably damaging	Het
Mrtfb	A	G	16: 13,199,465 (GRCm39)	E106G	probably damaging	Het
Myo7a	T	A	7: 97,721,153 (GRCm39)	T1271S	probably damaging	Het
Myo9a	T	A	9: 59,829,076 (GRCm39)	M2376K	probably benign	Het
Nell2	G	A	15: 95,127,095 (GRCm39)	T760I	probably benign	Het
Neurod6	C	T	6: 55,656,572 (GRCm39)	A22T	probably benign	Het
Nlrp10	T	C	7: 108,523,492 (GRCm39)	K663E	probably benign	Het
Nopchap1	T	C	10: 83,197,961 (GRCm39)	S56P	probably benign	Het
Npr3	T	A	15: 11,845,368 (GRCm39)	K501N	probably benign	Het
Nr2f2	C	A	7: 70,004,460 (GRCm39)	R264L	probably damaging	Het
Nup35	T	A	2: 80,472,984 (GRCm39)	M19K	probably benign	Het
Oacyl	A	T	18: 65,880,962 (GRCm39)	Q592L	possibly damaging	Het
Or10a4	T	A	7: 106,696,933 (GRCm39)	I87K	probably benign	Het
Or1ad6	C	A	11: 50,860,670 (GRCm39)	A275D	possibly damaging	Het
Or2v1	C	G	11: 49,025,549 (GRCm39)	H177D	probably damaging	Het
Or4a71	A	G	2: 89,358,451 (GRCm39)	V101A	possibly damaging	Het
Or5af1	T	A	11: 58,722,798 (GRCm39)	S273T	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5b122	T	A	19: 13,563,534 (GRCm39)	Y289N	probably damaging	Het
Or5p51	A	G	7: 107,444,776 (GRCm39)	S55P	probably damaging	Het
Or6c76b	T	G	10: 129,693,070 (GRCm39)	S228A	possibly damaging	Het
Or8k25	T	A	2: 86,243,514 (GRCm39)	N294I	probably damaging	Het
Or9k7	T	C	10: 130,046,939 (GRCm39)	E20G	probably benign	Het
Patl2	T	C	2: 121,957,150 (GRCm39)	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,278,942 (GRCm39)	I641V	probably benign	Het
Polr2b	T	C	5: 77,461,006 (GRCm39)		probably benign	Het
Pot1b	A	T	17: 55,972,765 (GRCm39)	I469N	probably damaging	Het
Prdm11	G	T	2: 92,844,130 (GRCm39)	D33E	possibly damaging	Het
Prkdc	A	G	16: 15,589,921 (GRCm39)	S2595G	probably damaging	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Prrc2b	G	T	2: 32,103,882 (GRCm39)	R1120L	probably damaging	Het
Prss38	T	C	11: 59,266,369 (GRCm39)	S30G	possibly damaging	Het
Raph1	A	T	1: 60,565,028 (GRCm39)	L153Q	probably damaging	Het
Reck	A	G	4: 43,940,719 (GRCm39)	T843A	probably benign	Het
Rgs7bp	T	C	13: 105,103,610 (GRCm39)	N164D	probably benign	Het
Rpusd4	C	A	9: 35,179,289 (GRCm39)	A35D	possibly damaging	Het
Setd1b	T	C	5: 123,298,014 (GRCm39)		probably benign	Het
Siglec15	G	T	18: 78,089,352 (GRCm39)	D297E	probably benign	Het
Skint7	T	A	4: 111,834,656 (GRCm39)	C13*	probably null	Het
Slc5a12	A	G	2: 110,463,088 (GRCm39)	M395V	probably benign	Het
Sohlh2	C	A	3: 55,115,104 (GRCm39)	S363Y	probably damaging	Het
Srgap3	A	T	6: 112,700,080 (GRCm39)	V966E	probably damaging	Het
Stk4	C	T	2: 163,940,462 (GRCm39)	P266L	probably damaging	Het
Stxbp5l	G	A	16: 36,962,794 (GRCm39)	H754Y	probably benign	Het
Synpo2l	A	T	14: 20,710,748 (GRCm39)	M624K	probably damaging	Het
Tas2r136	T	C	6: 132,754,375 (GRCm39)	I251V	probably benign	Het
Tecpr1	C	T	5: 144,149,408 (GRCm39)	V340M	probably damaging	Het
Tecta	C	T	9: 42,299,501 (GRCm39)	G196S	probably damaging	Het
Tex55	A	C	16: 38,648,726 (GRCm39)	S128A	probably benign	Het
Thsd7a	T	A	6: 12,331,541 (GRCm39)		probably null	Het
Timeless	T	C	10: 128,082,203 (GRCm39)	V577A	probably benign	Het
Tln1	A	T	4: 43,553,071 (GRCm39)	V340E	probably damaging	Het
Tmem132c	T	A	5: 127,640,617 (GRCm39)	Y929*	probably null	Het
Tmprss7	C	T	16: 45,489,914 (GRCm39)	R436Q	probably damaging	Het
Tnik	A	C	3: 28,704,308 (GRCm39)	K989T	probably damaging	Het
Tnxb	T	A	17: 34,890,892 (GRCm39)	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,726,103 (GRCm39)		probably null	Het
Trpm6	C	A	19: 18,849,585 (GRCm39)	T1704N	probably benign	Het
Tsc2	A	T	17: 24,840,686 (GRCm39)	V391E	probably damaging	Het
Ttc22	T	C	4: 106,496,510 (GRCm39)	V520A	possibly damaging	Het
Ttc3	T	A	16: 94,257,644 (GRCm39)	Y1650*	probably null	Het
Vmn2r24	A	G	6: 123,763,893 (GRCm39)	T257A	probably benign	Het
Xab2	A	C	8: 3,663,605 (GRCm39)	N408K	probably benign	Het
Zbtb42	A	T	12: 112,647,061 (GRCm39)	Y412F	probably benign	Het
Zfp282	A	G	6: 47,857,303 (GRCm39)	N179D	probably damaging	Het
Zfp62	C	A	11: 49,106,227 (GRCm39)	T106K	probably benign	Het

Other mutations in Dync2h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Dync2h1	APN	9	7,158,839 (GRCm39)	missense	probably benign	0.42
IGL00310:Dync2h1	APN	9	7,155,072 (GRCm39)	splice site	probably benign
IGL00499:Dync2h1	APN	9	7,168,700 (GRCm39)	missense	possibly damaging	0.95
IGL00579:Dync2h1	APN	9	7,035,728 (GRCm39)	splice site	probably benign
IGL00660:Dync2h1	APN	9	7,075,797 (GRCm39)	missense	probably damaging	0.98
IGL00964:Dync2h1	APN	9	7,174,881 (GRCm39)	splice site	probably benign
IGL01025:Dync2h1	APN	9	7,162,789 (GRCm39)	missense	probably damaging	1.00
IGL01093:Dync2h1	APN	9	7,145,611 (GRCm39)	missense	probably benign	0.01
IGL01108:Dync2h1	APN	9	7,176,771 (GRCm39)	missense	possibly damaging	0.87
IGL01126:Dync2h1	APN	9	7,116,588 (GRCm39)	missense	probably benign	0.00
IGL01474:Dync2h1	APN	9	7,102,493 (GRCm39)	missense	probably benign	0.01
IGL01531:Dync2h1	APN	9	7,071,111 (GRCm39)	missense	probably benign	0.11
IGL01548:Dync2h1	APN	9	7,071,922 (GRCm39)	missense	probably damaging	1.00
IGL01621:Dync2h1	APN	9	7,140,897 (GRCm39)	critical splice donor site	probably null
IGL01672:Dync2h1	APN	9	7,118,884 (GRCm39)	nonsense	probably null
IGL01681:Dync2h1	APN	9	7,142,196 (GRCm39)	splice site	probably null
IGL01685:Dync2h1	APN	9	7,142,297 (GRCm39)	missense	probably damaging	1.00
IGL01724:Dync2h1	APN	9	7,081,077 (GRCm39)	missense	probably benign	0.03
IGL01738:Dync2h1	APN	9	7,114,922 (GRCm39)	missense	possibly damaging	0.77
IGL01783:Dync2h1	APN	9	7,118,822 (GRCm39)	unclassified	probably benign
IGL01813:Dync2h1	APN	9	7,122,799 (GRCm39)	missense	probably damaging	1.00
IGL01931:Dync2h1	APN	9	7,114,973 (GRCm39)	missense	probably damaging	1.00
IGL01931:Dync2h1	APN	9	7,011,207 (GRCm39)	missense	probably benign	0.33
IGL02105:Dync2h1	APN	9	7,075,892 (GRCm39)	missense	probably damaging	1.00
IGL02137:Dync2h1	APN	9	7,134,349 (GRCm39)	missense	probably benign
IGL02140:Dync2h1	APN	9	7,147,791 (GRCm39)	missense	probably benign
IGL02175:Dync2h1	APN	9	7,111,548 (GRCm39)	missense	possibly damaging	0.91
IGL02283:Dync2h1	APN	9	7,125,912 (GRCm39)	missense	probably damaging	0.99
IGL02305:Dync2h1	APN	9	7,122,678 (GRCm39)	missense	probably benign
IGL02342:Dync2h1	APN	9	7,142,246 (GRCm39)	missense	probably damaging	1.00
IGL02367:Dync2h1	APN	9	7,158,926 (GRCm39)	missense	probably damaging	0.98
IGL02458:Dync2h1	APN	9	7,117,422 (GRCm39)	missense	probably damaging	1.00
IGL02563:Dync2h1	APN	9	7,035,700 (GRCm39)	missense	possibly damaging	0.95
IGL02825:Dync2h1	APN	9	6,955,901 (GRCm39)	splice site	probably benign
IGL02955:Dync2h1	APN	9	7,142,864 (GRCm39)	missense	probably benign	0.00
IGL02992:Dync2h1	APN	9	7,137,074 (GRCm39)	missense	probably benign	0.01
IGL02996:Dync2h1	APN	9	6,935,279 (GRCm39)	missense	probably damaging	0.99
IGL03224:Dync2h1	APN	9	7,076,235 (GRCm39)	missense	probably benign	0.32
IGL03226:Dync2h1	APN	9	7,125,918 (GRCm39)	missense	probably benign
IGL03233:Dync2h1	APN	9	7,101,525 (GRCm39)	missense	possibly damaging	0.90
deinonychus	UTSW	9	7,159,478 (GRCm39)	splice site	probably null
R0016:Dync2h1	UTSW	9	7,144,346 (GRCm39)	splice site	probably benign
R0016:Dync2h1	UTSW	9	7,144,346 (GRCm39)	splice site	probably benign
R0043:Dync2h1	UTSW	9	7,005,574 (GRCm39)	missense	probably benign	0.05
R0109:Dync2h1	UTSW	9	7,111,487 (GRCm39)	missense	probably damaging	1.00
R0109:Dync2h1	UTSW	9	7,111,487 (GRCm39)	missense	probably damaging	1.00
R0121:Dync2h1	UTSW	9	7,001,327 (GRCm39)	splice site	probably benign
R0277:Dync2h1	UTSW	9	7,129,046 (GRCm39)	missense	probably benign
R0360:Dync2h1	UTSW	9	7,113,182 (GRCm39)	missense	possibly damaging	0.62
R0362:Dync2h1	UTSW	9	7,005,487 (GRCm39)	splice site	probably null
R0389:Dync2h1	UTSW	9	7,167,244 (GRCm39)	splice site	probably null
R0443:Dync2h1	UTSW	9	7,167,244 (GRCm39)	splice site	probably null
R0496:Dync2h1	UTSW	9	7,155,180 (GRCm39)	missense	probably benign	0.42
R0506:Dync2h1	UTSW	9	7,113,153 (GRCm39)	missense	probably benign	0.05
R0511:Dync2h1	UTSW	9	7,122,692 (GRCm39)	missense	probably benign	0.00
R0540:Dync2h1	UTSW	9	7,051,480 (GRCm39)	missense	probably benign	0.00
R0550:Dync2h1	UTSW	9	7,120,954 (GRCm39)	splice site	probably null
R0564:Dync2h1	UTSW	9	7,139,432 (GRCm39)	missense	probably damaging	1.00
R0699:Dync2h1	UTSW	9	7,103,680 (GRCm39)	missense	probably benign	0.00
R0725:Dync2h1	UTSW	9	7,015,497 (GRCm39)	missense	possibly damaging	0.93
R0835:Dync2h1	UTSW	9	7,116,642 (GRCm39)	critical splice acceptor site	probably null
R0837:Dync2h1	UTSW	9	7,077,979 (GRCm39)	missense	probably benign	0.07
R0894:Dync2h1	UTSW	9	7,041,734 (GRCm39)	splice site	probably benign
R0938:Dync2h1	UTSW	9	7,002,658 (GRCm39)	missense	probably benign	0.02
R1056:Dync2h1	UTSW	9	7,147,731 (GRCm39)	missense	probably benign	0.15
R1081:Dync2h1	UTSW	9	7,005,488 (GRCm39)	critical splice donor site	probably null
R1178:Dync2h1	UTSW	9	7,101,193 (GRCm39)	splice site	probably benign
R1243:Dync2h1	UTSW	9	7,120,882 (GRCm39)	missense	probably benign
R1295:Dync2h1	UTSW	9	7,075,752 (GRCm39)	splice site	probably benign
R1304:Dync2h1	UTSW	9	7,102,318 (GRCm39)	missense	probably damaging	1.00
R1387:Dync2h1	UTSW	9	7,125,816 (GRCm39)	missense	probably benign
R1513:Dync2h1	UTSW	9	7,103,663 (GRCm39)	missense	possibly damaging	0.74
R1557:Dync2h1	UTSW	9	7,140,911 (GRCm39)	missense	probably damaging	1.00
R1568:Dync2h1	UTSW	9	7,157,553 (GRCm39)	missense	probably null	0.02
R1570:Dync2h1	UTSW	9	7,176,926 (GRCm39)	missense	probably benign	0.12
R1670:Dync2h1	UTSW	9	6,993,942 (GRCm39)	missense	possibly damaging	0.82
R1713:Dync2h1	UTSW	9	7,131,891 (GRCm39)	missense	probably benign
R1766:Dync2h1	UTSW	9	7,015,526 (GRCm39)	critical splice acceptor site	probably null
R1773:Dync2h1	UTSW	9	7,128,256 (GRCm39)	missense	probably damaging	1.00
R1786:Dync2h1	UTSW	9	7,081,084 (GRCm39)	missense	probably damaging	1.00
R1848:Dync2h1	UTSW	9	7,049,166 (GRCm39)	missense	probably benign	0.01
R1850:Dync2h1	UTSW	9	7,001,448 (GRCm39)	missense	probably benign	0.00
R1935:Dync2h1	UTSW	9	7,139,159 (GRCm39)	critical splice donor site	probably null
R1936:Dync2h1	UTSW	9	7,139,159 (GRCm39)	critical splice donor site	probably null
R1937:Dync2h1	UTSW	9	7,139,159 (GRCm39)	critical splice donor site	probably null
R1939:Dync2h1	UTSW	9	7,139,159 (GRCm39)	critical splice donor site	probably null
R1940:Dync2h1	UTSW	9	7,139,159 (GRCm39)	critical splice donor site	probably null
R1944:Dync2h1	UTSW	9	7,001,377 (GRCm39)	missense	probably damaging	1.00
R1976:Dync2h1	UTSW	9	7,129,045 (GRCm39)	missense	probably benign
R2012:Dync2h1	UTSW	9	7,169,589 (GRCm39)	missense	probably benign	0.00
R2020:Dync2h1	UTSW	9	7,162,925 (GRCm39)	missense	probably benign	0.25
R2020:Dync2h1	UTSW	9	7,122,772 (GRCm39)	missense	probably damaging	0.99
R2024:Dync2h1	UTSW	9	7,129,062 (GRCm39)	missense	probably damaging	0.97
R2038:Dync2h1	UTSW	9	6,967,226 (GRCm39)	missense	probably damaging	0.99
R2045:Dync2h1	UTSW	9	7,160,171 (GRCm39)	missense	probably damaging	1.00
R2060:Dync2h1	UTSW	9	7,162,802 (GRCm39)	missense	possibly damaging	0.92
R2094:Dync2h1	UTSW	9	7,148,735 (GRCm39)	missense	probably benign	0.18
R2129:Dync2h1	UTSW	9	7,175,289 (GRCm39)	missense	possibly damaging	0.94
R2130:Dync2h1	UTSW	9	7,011,253 (GRCm39)	missense	probably damaging	1.00
R2136:Dync2h1	UTSW	9	7,122,772 (GRCm39)	missense	probably damaging	0.99
R2164:Dync2h1	UTSW	9	7,124,797 (GRCm39)	missense	probably damaging	1.00
R2242:Dync2h1	UTSW	9	7,037,828 (GRCm39)	splice site	probably null
R2255:Dync2h1	UTSW	9	6,955,905 (GRCm39)	critical splice donor site	probably null
R2357:Dync2h1	UTSW	9	7,081,053 (GRCm39)	missense	probably benign	0.03
R2389:Dync2h1	UTSW	9	7,122,618 (GRCm39)	missense	possibly damaging	0.82
R2412:Dync2h1	UTSW	9	7,144,246 (GRCm39)	missense	probably benign	0.01
R2885:Dync2h1	UTSW	9	7,102,329 (GRCm39)	missense	probably damaging	1.00
R2909:Dync2h1	UTSW	9	7,049,114 (GRCm39)	missense	probably damaging	1.00
R3434:Dync2h1	UTSW	9	7,011,236 (GRCm39)	missense	probably benign
R3719:Dync2h1	UTSW	9	7,006,882 (GRCm39)	splice site	probably benign
R3723:Dync2h1	UTSW	9	7,041,658 (GRCm39)	missense	probably benign	0.17
R3800:Dync2h1	UTSW	9	7,101,525 (GRCm39)	missense	possibly damaging	0.90
R3803:Dync2h1	UTSW	9	6,935,293 (GRCm39)	missense	probably benign	0.00
R3936:Dync2h1	UTSW	9	7,001,482 (GRCm39)	missense	probably damaging	1.00
R3941:Dync2h1	UTSW	9	7,124,825 (GRCm39)	missense	probably benign
R3950:Dync2h1	UTSW	9	7,112,061 (GRCm39)	nonsense	probably null
R4004:Dync2h1	UTSW	9	7,117,404 (GRCm39)	missense	probably damaging	1.00
R4091:Dync2h1	UTSW	9	7,131,881 (GRCm39)	missense	probably benign	0.01
R4233:Dync2h1	UTSW	9	7,134,360 (GRCm39)	missense	probably benign	0.02
R4302:Dync2h1	UTSW	9	7,077,880 (GRCm39)	missense	probably benign	0.02
R4451:Dync2h1	UTSW	9	6,983,477 (GRCm39)	missense	probably benign	0.02
R4512:Dync2h1	UTSW	9	7,085,009 (GRCm39)	nonsense	probably null
R4596:Dync2h1	UTSW	9	6,992,595 (GRCm39)	missense	probably benign
R4604:Dync2h1	UTSW	9	7,140,995 (GRCm39)	missense	probably benign	0.00
R4614:Dync2h1	UTSW	9	7,011,290 (GRCm39)	missense	probably benign	0.03
R4667:Dync2h1	UTSW	9	7,051,411 (GRCm39)	missense	probably benign	0.00
R4671:Dync2h1	UTSW	9	7,169,640 (GRCm39)	missense	possibly damaging	0.82
R4714:Dync2h1	UTSW	9	7,118,932 (GRCm39)	missense	possibly damaging	0.86
R4716:Dync2h1	UTSW	9	7,142,648 (GRCm39)	critical splice donor site	probably null
R4736:Dync2h1	UTSW	9	7,006,862 (GRCm39)	missense	probably benign	0.00
R4807:Dync2h1	UTSW	9	7,139,422 (GRCm39)	missense	probably benign	0.31
R4850:Dync2h1	UTSW	9	7,134,364 (GRCm39)	missense	probably benign	0.14
R4862:Dync2h1	UTSW	9	7,147,717 (GRCm39)	missense	probably benign
R4899:Dync2h1	UTSW	9	7,131,921 (GRCm39)	nonsense	probably null
R4971:Dync2h1	UTSW	9	7,131,949 (GRCm39)	missense	probably benign
R5040:Dync2h1	UTSW	9	6,992,625 (GRCm39)	missense	probably benign	0.09
R5054:Dync2h1	UTSW	9	7,085,007 (GRCm39)	missense	possibly damaging	0.63
R5274:Dync2h1	UTSW	9	7,116,540 (GRCm39)	missense	probably benign	0.00
R5307:Dync2h1	UTSW	9	7,155,099 (GRCm39)	missense	probably damaging	1.00
R5347:Dync2h1	UTSW	9	7,129,727 (GRCm39)	missense	probably damaging	1.00
R5372:Dync2h1	UTSW	9	7,176,962 (GRCm39)	unclassified	probably benign
R5384:Dync2h1	UTSW	9	7,016,791 (GRCm39)	missense	probably damaging	0.99
R5385:Dync2h1	UTSW	9	7,016,791 (GRCm39)	missense	probably damaging	0.99
R5394:Dync2h1	UTSW	9	7,120,899 (GRCm39)	nonsense	probably null
R5402:Dync2h1	UTSW	9	7,114,949 (GRCm39)	missense	probably damaging	1.00
R5446:Dync2h1	UTSW	9	7,144,217 (GRCm39)	missense	probably benign
R5538:Dync2h1	UTSW	9	7,168,630 (GRCm39)	intron	probably benign
R5551:Dync2h1	UTSW	9	7,031,718 (GRCm39)	missense	possibly damaging	0.74
R5619:Dync2h1	UTSW	9	7,118,885 (GRCm39)	missense	probably benign	0.02
R5621:Dync2h1	UTSW	9	7,120,909 (GRCm39)	missense	possibly damaging	0.86
R5652:Dync2h1	UTSW	9	7,116,638 (GRCm39)	missense	probably benign	0.45
R5655:Dync2h1	UTSW	9	7,148,659 (GRCm39)	missense	probably benign	0.01
R5689:Dync2h1	UTSW	9	7,169,689 (GRCm39)	missense	probably damaging	1.00
R5725:Dync2h1	UTSW	9	7,169,528 (GRCm39)	missense	probably benign	0.21
R5742:Dync2h1	UTSW	9	7,165,762 (GRCm39)	missense	possibly damaging	0.64
R5817:Dync2h1	UTSW	9	6,996,905 (GRCm39)	missense	probably damaging	1.00
R5852:Dync2h1	UTSW	9	7,011,290 (GRCm39)	missense	probably benign	0.03
R5898:Dync2h1	UTSW	9	7,148,717 (GRCm39)	missense	probably benign	0.00
R5916:Dync2h1	UTSW	9	7,102,309 (GRCm39)	critical splice donor site	probably null
R5939:Dync2h1	UTSW	9	7,037,801 (GRCm39)	missense	probably damaging	0.99
R5942:Dync2h1	UTSW	9	7,117,466 (GRCm39)	nonsense	probably null
R5982:Dync2h1	UTSW	9	6,955,986 (GRCm39)	missense	probably benign	0.00
R6029:Dync2h1	UTSW	9	7,157,646 (GRCm39)	missense	probably benign
R6125:Dync2h1	UTSW	9	7,168,706 (GRCm39)	missense	probably damaging	1.00
R6209:Dync2h1	UTSW	9	7,165,677 (GRCm39)	missense	probably benign	0.01
R6247:Dync2h1	UTSW	9	7,135,078 (GRCm39)	missense	probably damaging	1.00
R6294:Dync2h1	UTSW	9	7,084,986 (GRCm39)	missense	probably benign	0.01
R6328:Dync2h1	UTSW	9	7,165,717 (GRCm39)	missense	probably benign	0.00
R6376:Dync2h1	UTSW	9	7,165,703 (GRCm39)	missense	probably benign	0.21
R6394:Dync2h1	UTSW	9	7,168,331 (GRCm39)	missense	probably damaging	0.99
R6539:Dync2h1	UTSW	9	7,159,478 (GRCm39)	splice site	probably null
R6554:Dync2h1	UTSW	9	7,037,699 (GRCm39)	missense	probably benign	0.39
R6559:Dync2h1	UTSW	9	7,139,501 (GRCm39)	missense	possibly damaging	0.72
R6563:Dync2h1	UTSW	9	7,120,819 (GRCm39)	missense	probably benign	0.27
R6807:Dync2h1	UTSW	9	7,041,718 (GRCm39)	missense	probably benign	0.10
R6848:Dync2h1	UTSW	9	7,159,632 (GRCm39)	missense	probably benign	0.22
R6901:Dync2h1	UTSW	9	7,131,855 (GRCm39)	missense	probably damaging	1.00
R6921:Dync2h1	UTSW	9	7,102,549 (GRCm39)	missense	probably benign
R6997:Dync2h1	UTSW	9	7,168,743 (GRCm39)	missense	probably null	0.00
R7084:Dync2h1	UTSW	9	7,113,214 (GRCm39)	missense	possibly damaging	0.72
R7113:Dync2h1	UTSW	9	7,075,788 (GRCm39)	missense	probably benign	0.03
R7131:Dync2h1	UTSW	9	7,075,786 (GRCm39)	missense	probably damaging	1.00
R7165:Dync2h1	UTSW	9	7,050,479 (GRCm39)	missense	probably benign
R7196:Dync2h1	UTSW	9	7,147,715 (GRCm39)	nonsense	probably null
R7208:Dync2h1	UTSW	9	7,141,059 (GRCm39)	missense	probably damaging	1.00
R7225:Dync2h1	UTSW	9	7,142,756 (GRCm39)	missense	probably benign
R7237:Dync2h1	UTSW	9	6,993,966 (GRCm39)	missense	probably benign	0.00
R7243:Dync2h1	UTSW	9	7,102,405 (GRCm39)	missense	possibly damaging	0.64
R7291:Dync2h1	UTSW	9	6,929,590 (GRCm39)	missense	possibly damaging	0.69
R7293:Dync2h1	UTSW	9	7,001,454 (GRCm39)	missense	possibly damaging	0.88
R7329:Dync2h1	UTSW	9	7,011,247 (GRCm39)	missense	probably benign
R7351:Dync2h1	UTSW	9	7,167,145 (GRCm39)	missense	probably damaging	1.00
R7358:Dync2h1	UTSW	9	7,159,479 (GRCm39)	critical splice donor site	probably null
R7387:Dync2h1	UTSW	9	7,157,932 (GRCm39)	missense	possibly damaging	0.68
R7446:Dync2h1	UTSW	9	7,041,720 (GRCm39)	missense	probably benign	0.03
R7487:Dync2h1	UTSW	9	7,132,041 (GRCm39)	missense	probably benign	0.26
R7488:Dync2h1	UTSW	9	7,124,855 (GRCm39)	missense	probably benign	0.03
R7496:Dync2h1	UTSW	9	7,135,015 (GRCm39)	splice site	probably null
R7501:Dync2h1	UTSW	9	7,175,336 (GRCm39)	missense	possibly damaging	0.82
R7571:Dync2h1	UTSW	9	7,002,623 (GRCm39)	missense	probably damaging	1.00
R7627:Dync2h1	UTSW	9	7,101,111 (GRCm39)	missense	probably benign	0.00
R7639:Dync2h1	UTSW	9	7,141,254 (GRCm39)	missense	probably damaging	0.97
R7653:Dync2h1	UTSW	9	7,117,570 (GRCm39)	missense	probably benign
R7654:Dync2h1	UTSW	9	7,122,664 (GRCm39)	missense	probably damaging	1.00
R7742:Dync2h1	UTSW	9	7,076,232 (GRCm39)	missense	probably benign	0.00
R7755:Dync2h1	UTSW	9	7,015,490 (GRCm39)	missense	probably benign	0.00
R7762:Dync2h1	UTSW	9	7,129,719 (GRCm39)	missense	probably benign	0.01
R7790:Dync2h1	UTSW	9	7,114,914 (GRCm39)	missense	probably damaging	0.96
R7834:Dync2h1	UTSW	9	7,118,953 (GRCm39)	missense	probably benign	0.04
R7883:Dync2h1	UTSW	9	7,005,566 (GRCm39)	missense	possibly damaging	0.80
R7952:Dync2h1	UTSW	9	7,129,802 (GRCm39)	missense	possibly damaging	0.63
R8111:Dync2h1	UTSW	9	7,148,688 (GRCm39)	missense	probably benign	0.03
R8157:Dync2h1	UTSW	9	7,001,473 (GRCm39)	missense	possibly damaging	0.47
R8166:Dync2h1	UTSW	9	7,129,089 (GRCm39)	nonsense	probably null
R8236:Dync2h1	UTSW	9	7,080,363 (GRCm39)	intron	probably benign
R8326:Dync2h1	UTSW	9	7,147,771 (GRCm39)	missense	probably benign
R8335:Dync2h1	UTSW	9	7,084,941 (GRCm39)	missense	probably benign	0.28
R8347:Dync2h1	UTSW	9	7,116,578 (GRCm39)	missense	possibly damaging	0.81
R8372:Dync2h1	UTSW	9	7,111,514 (GRCm39)	missense	possibly damaging	0.90
R8421:Dync2h1	UTSW	9	7,102,477 (GRCm39)	missense	probably damaging	1.00
R8518:Dync2h1	UTSW	9	7,051,452 (GRCm39)	missense	probably benign	0.04
R8556:Dync2h1	UTSW	9	7,113,198 (GRCm39)	missense	probably benign	0.32
R8690:Dync2h1	UTSW	9	7,075,824 (GRCm39)	missense	probably damaging	1.00
R8713:Dync2h1	UTSW	9	7,141,008 (GRCm39)	nonsense	probably null
R8719:Dync2h1	UTSW	9	7,041,641 (GRCm39)	missense	probably benign	0.05
R8732:Dync2h1	UTSW	9	7,168,326 (GRCm39)	missense	probably damaging	1.00
R8744:Dync2h1	UTSW	9	7,011,220 (GRCm39)	nonsense	probably null
R8749:Dync2h1	UTSW	9	7,035,063 (GRCm39)	missense	probably benign	0.32
R8795:Dync2h1	UTSW	9	7,137,087 (GRCm39)	missense	probably benign	0.00
R8853:Dync2h1	UTSW	9	7,117,645 (GRCm39)	missense	possibly damaging	0.94
R8923:Dync2h1	UTSW	9	7,168,515 (GRCm39)	missense	probably benign
R8969:Dync2h1	UTSW	9	7,130,723 (GRCm39)	missense	probably damaging	1.00
R8988:Dync2h1	UTSW	9	7,037,727 (GRCm39)	missense	probably benign	0.00
R8997:Dync2h1	UTSW	9	7,129,003 (GRCm39)	missense	probably benign
R9025:Dync2h1	UTSW	9	7,139,462 (GRCm39)	nonsense	probably null
R9036:Dync2h1	UTSW	9	7,051,495 (GRCm39)	missense	probably damaging	1.00
R9055:Dync2h1	UTSW	9	6,996,641 (GRCm39)	intron	probably benign
R9165:Dync2h1	UTSW	9	7,114,883 (GRCm39)	missense	probably damaging	0.99
R9172:Dync2h1	UTSW	9	7,031,771 (GRCm39)	missense	probably damaging	1.00
R9286:Dync2h1	UTSW	9	6,941,668 (GRCm39)	missense	probably benign	0.01
R9312:Dync2h1	UTSW	9	7,050,413 (GRCm39)	missense	probably damaging	1.00
R9335:Dync2h1	UTSW	9	7,112,149 (GRCm39)	missense	possibly damaging	0.88
R9344:Dync2h1	UTSW	9	7,148,659 (GRCm39)	missense	probably benign	0.01
R9351:Dync2h1	UTSW	9	7,176,911 (GRCm39)	missense	probably damaging	0.98
R9367:Dync2h1	UTSW	9	7,125,730 (GRCm39)	critical splice donor site	probably null
R9613:Dync2h1	UTSW	9	7,075,769 (GRCm39)	missense	probably damaging	0.99
R9650:Dync2h1	UTSW	9	7,174,849 (GRCm39)	missense	possibly damaging	0.83
R9726:Dync2h1	UTSW	9	7,077,999 (GRCm39)	missense	possibly damaging	0.94
R9731:Dync2h1	UTSW	9	7,141,166 (GRCm39)	missense	probably benign
X0009:Dync2h1	UTSW	9	7,117,576 (GRCm39)	missense	possibly damaging	0.81
Z1176:Dync2h1	UTSW	9	7,168,730 (GRCm39)	frame shift	probably null
Z1176:Dync2h1	UTSW	9	7,142,361 (GRCm39)	missense	probably damaging	0.99
Z1177:Dync2h1	UTSW	9	7,102,427 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAAAGGCCAGTGATAAGCTAATGG -3'
(R):5'- TCTGGCAGGTACACACGAACTGAG -3'

Sequencing Primer
(F):5'- AAGCTAATGGCTACTTTGCCTTG -3'
(R):5'- AATAGACCAGATGGTTCTGTTTGC -3'

Posted On

2013-07-11