Mutagenetix > Incidental Mutation

Incidental Mutation 'R1713:Dync2h1'

190781

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

039746-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6928550-7177619 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7131891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1639 (T1639A)

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: T1639A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046733
Gene: ENSMUSG00000047193
AA Change: T1639A

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: ENSMUST00000140466
AA Change: T1639A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120007
Gene: ENSMUSG00000047193
AA Change: T1639A

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: T1639A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116679
Gene: ENSMUSG00000047193
AA Change: T1639A

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

Meta Mutation Damage Score

0.0744

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (96/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,127,964 (GRCm39)	I54F	possibly damaging	Het
Ackr1	A	T	1: 173,159,916 (GRCm39)	H134Q	probably benign	Het
Agtr1b	A	T	3: 20,370,473 (GRCm39)	F44L	probably benign	Het
Ahnak	G	A	19: 8,989,173 (GRCm39)	D3486N	possibly damaging	Het
Akap9	T	C	5: 4,089,345 (GRCm39)		probably null	Het
Anks6	T	A	4: 47,039,726 (GRCm39)	Q495L	probably benign	Het
Arpp21	A	G	9: 111,896,237 (GRCm39)	S684P	probably damaging	Het
Ash1l	A	G	3: 88,983,531 (GRCm39)	E2911G	probably damaging	Het
Avpi1	C	T	19: 42,113,248 (GRCm39)	E70K	probably damaging	Het
Btbd17	G	T	11: 114,686,650 (GRCm39)	P9T	probably benign	Het
C4b	A	G	17: 34,948,245 (GRCm39)		probably benign	Het
Carm1	T	C	9: 21,497,785 (GRCm39)	V385A	probably damaging	Het
Casd1	A	G	6: 4,624,104 (GRCm39)	D299G	probably damaging	Het
Clca3a1	T	A	3: 144,730,307 (GRCm39)	K179N	probably benign	Het
Col1a2	T	C	6: 4,538,691 (GRCm39)	S1204P	unknown	Het
Col24a1	C	T	3: 145,072,624 (GRCm39)	Q780*	probably null	Het
Cxadr	C	A	16: 78,131,133 (GRCm39)	N216K	probably damaging	Het
Daam1	C	T	12: 71,942,656 (GRCm39)	T40I	unknown	Het
Dab2	C	T	15: 6,459,182 (GRCm39)	P365S	possibly damaging	Het
Dnah1	A	T	14: 31,001,139 (GRCm39)	I2402N	probably damaging	Het
Dscaml1	T	A	9: 45,663,988 (GRCm39)	S1954R	possibly damaging	Het
Ebf1	A	T	11: 44,815,393 (GRCm39)	I336F	probably damaging	Het
Ebna1bp2	A	G	4: 118,482,881 (GRCm39)	N290S	possibly damaging	Het
Gabra2	A	G	5: 71,171,906 (GRCm39)	I110T	probably benign	Het
Galk2	A	G	2: 125,773,210 (GRCm39)	N203S	probably benign	Het
Gria4	T	C	9: 4,424,448 (GRCm39)	T806A	probably benign	Het
Impg2	A	G	16: 56,080,889 (GRCm39)	T789A	probably benign	Het
Itga6	A	G	2: 71,617,546 (GRCm39)	T22A	probably benign	Het
Itgb4	T	A	11: 115,894,315 (GRCm39)	I1312N	probably damaging	Het
Kdm4c	A	G	4: 74,216,721 (GRCm39)	D160G	probably benign	Het
Kdr	A	G	5: 76,129,127 (GRCm39)	V173A	probably benign	Het
Kif14	T	C	1: 136,455,202 (GRCm39)	S1575P	probably benign	Het
Lcp1	G	A	14: 75,436,884 (GRCm39)		probably null	Het
Lipe	C	A	7: 25,084,750 (GRCm39)	S516I	probably damaging	Het
Lrrc61	G	A	6: 48,545,708 (GRCm39)	R177Q	possibly damaging	Het
Macf1	A	G	4: 123,272,487 (GRCm39)	I6429T	probably damaging	Het
Map3k4	C	T	17: 12,468,458 (GRCm39)	E1012K	probably benign	Het
Map3k5	T	C	10: 19,986,593 (GRCm39)	F936L	possibly damaging	Het
Mllt3	A	T	4: 87,701,901 (GRCm39)	N497K	probably damaging	Het
Moxd1	G	A	10: 24,157,394 (GRCm39)	G342D	probably damaging	Het
Mtdh	A	C	15: 34,114,985 (GRCm39)	Q202H	possibly damaging	Het
Nav1	A	G	1: 135,522,972 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,119,886 (GRCm39)	V109A	possibly damaging	Het
Obscn	T	C	11: 58,970,712 (GRCm39)	D2540G	probably damaging	Het
Omg	T	C	11: 79,393,679 (GRCm39)	I60V	probably benign	Het
Or10q12	A	T	19: 13,746,659 (GRCm39)	T318S	probably benign	Het
Or12e9	A	T	2: 87,202,290 (GRCm39)	Y138F	probably damaging	Het
Osbpl5	G	A	7: 143,248,110 (GRCm39)	H652Y	probably damaging	Het
Parvb	T	C	15: 84,182,192 (GRCm39)		probably benign	Het
Pcdhb3	A	C	18: 37,436,375 (GRCm39)	E780D	probably benign	Het
Pik3c3	A	G	18: 30,456,639 (GRCm39)	D723G	possibly damaging	Het
Prkdc	T	C	16: 15,612,958 (GRCm39)	V3172A	probably benign	Het
Psme4	G	T	11: 30,756,310 (GRCm39)	W272L	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rhobtb1	A	C	10: 69,108,601 (GRCm39)	S434R	probably benign	Het
Rhobtb1	G	C	10: 69,108,602 (GRCm39)	S434T	possibly damaging	Het
Rnf8	T	C	17: 29,853,735 (GRCm39)	F413S	probably damaging	Het
Rpn2	A	G	2: 157,156,888 (GRCm39)	N497S	probably damaging	Het
Rsbn1l	G	T	5: 21,156,488 (GRCm39)	P99Q	probably benign	Het
Serpinb3b	A	T	1: 107,083,164 (GRCm39)	M246K	probably benign	Het
Sgsm2	T	C	11: 74,787,652 (GRCm39)	E19G	probably null	Het
Shank1	A	G	7: 43,969,161 (GRCm39)	H352R	unknown	Het
Slc17a7	A	G	7: 44,819,728 (GRCm39)	I177V	probably benign	Het
Slc28a2	T	A	2: 122,281,494 (GRCm39)	F228I	probably damaging	Het
Slc35b4	C	T	6: 34,147,484 (GRCm39)	V35I	probably benign	Het
Slc38a1	T	C	15: 96,476,641 (GRCm39)	I407V	probably damaging	Het
Slc39a13	A	G	2: 90,893,442 (GRCm39)	V326A	probably damaging	Het
Slc44a5	T	C	3: 153,944,743 (GRCm39)	L120P	probably damaging	Het
Slfn3	T	C	11: 83,104,140 (GRCm39)	I214T	probably damaging	Het
Slitrk3	A	C	3: 72,957,024 (GRCm39)	S583A	probably benign	Het
Snx14	T	C	9: 88,297,728 (GRCm39)	Y180C	probably damaging	Het
Sorl1	T	A	9: 41,907,538 (GRCm39)	K1483I	probably benign	Het
Ssrp1	C	A	2: 84,871,104 (GRCm39)	H247N	probably damaging	Het
Stk39	A	T	2: 68,137,460 (GRCm39)		probably benign	Het
Syde1	C	T	10: 78,421,530 (GRCm39)	G674R	probably damaging	Het
Tent4a	A	T	13: 69,651,170 (GRCm39)	I565N	probably benign	Het
Themis3	G	A	17: 66,862,848 (GRCm39)	S370L	probably benign	Het
Tll1	T	A	8: 64,554,907 (GRCm39)	N259Y	probably damaging	Het
Tnip2	T	G	5: 34,661,175 (GRCm39)		probably benign	Het
Top2b	T	C	14: 16,409,823 (GRCm38)	V830A	probably benign	Het
Trpm8	T	A	1: 88,292,802 (GRCm39)	N934K	probably damaging	Het
Ttc14	A	G	3: 33,857,069 (GRCm39)	Y179C	probably damaging	Het
Ttn	T	G	2: 76,573,965 (GRCm39)	I17316L	possibly damaging	Het
Tufm	T	C	7: 126,086,871 (GRCm39)	V52A	probably benign	Het
Vamp8	T	A	6: 72,365,270 (GRCm39)	N20I	probably benign	Het
Vmn1r170	A	T	7: 23,306,288 (GRCm39)	H230L	probably benign	Het
Vmn2r50	T	G	7: 9,771,731 (GRCm39)	T657P	probably damaging	Het
Xirp2	G	A	2: 67,342,762 (GRCm39)	G1668R	probably benign	Het
Zik1	C	A	7: 10,224,311 (GRCm39)	R262L	possibly damaging	Het
Zscan25	T	G	5: 145,220,501 (GRCm39)	Y99D	probably damaging	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
R0607:Dync2h1	UTSW	9	7,051,480 (GRCm39)	missense	probably benign	0.00
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
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'- TGCCACTCTACTGGAGCTGCCTAT -3'
(R):5'- TCGCAGTGTATCTTGAAGTTGCCAT -3'

Sequencing Primer
(F):5'- aaaaaaaaCCTTCCAAATTCTGACAC -3'
(R):5'- GCATGTGTGAATACAAGGTACAACTC -3'

Posted On

2014-05-14