Mutagenetix > Incidental Mutation

Incidental Mutation 'R8795:Dync2h1'

671202

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

068636-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8795 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6928550-7177619 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7137087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1468 (E1468K)

Ref Sequence

ENSEMBL: ENSMUSP00000046733 (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: E1468K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046733
Gene: ENSMUSG00000047193
AA Change: E1468K

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: E1468K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120007
Gene: ENSMUSG00000047193
AA Change: E1468K

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: E1468K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000116679
Gene: ENSMUSG00000047193
AA Change: E1468K

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (72/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,818,598 (GRCm39)	M128L	probably damaging	Het
Abcc12	A	G	8: 87,258,213 (GRCm39)	S768P	possibly damaging	Het
Adamts8	A	T	9: 30,854,484 (GRCm39)	M118L	probably benign	Het
Adgrl4	A	G	3: 151,216,416 (GRCm39)	N533S	probably benign	Het
Agk	T	G	6: 40,363,854 (GRCm39)	I278R	possibly damaging	Het
Atr	T	A	9: 95,749,584 (GRCm39)	W466R	probably damaging	Het
Cacna1h	C	T	17: 25,612,538 (GRCm39)	V387I	probably damaging	Het
Cand2	T	G	6: 115,763,889 (GRCm39)	D270E	probably benign	Het
Ccdc107	C	T	4: 43,495,514 (GRCm39)	T139M	probably damaging	Het
Cenpl	A	G	1: 160,910,584 (GRCm39)	E177G	probably benign	Het
Clint1	C	A	11: 45,775,178 (GRCm39)	Q56K	probably damaging	Het
Col9a1	A	G	1: 24,233,812 (GRCm39)	R249G	unknown	Het
Cpne5	C	T	17: 29,423,662 (GRCm39)		probably benign	Het
Ddx27	A	G	2: 166,859,730 (GRCm39)	D54G	probably benign	Het
E130308A19Rik	A	T	4: 59,737,676 (GRCm39)	N429I	possibly damaging	Het
Endov	G	T	11: 119,390,380 (GRCm39)	G86C	possibly damaging	Het
Ercc5	A	T	1: 44,203,089 (GRCm39)	Y242F	possibly damaging	Het
Gabrr1	T	A	4: 33,161,756 (GRCm39)	V360E	probably damaging	Het
Gcn1	T	C	5: 115,752,454 (GRCm39)	I2153T	probably benign	Het
Gje1	T	C	10: 14,593,870 (GRCm39)	N8S	probably benign	Het
Greb1l	A	G	18: 10,553,739 (GRCm39)	H1580R	probably damaging	Het
Grin1	C	G	2: 25,187,468 (GRCm39)	S614T	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ifitm2	A	T	7: 140,535,661 (GRCm39)	H56Q	probably damaging	Het
Ifrd1	G	A	12: 40,263,076 (GRCm39)	T218I	possibly damaging	Het
Igkv1-99	G	T	6: 68,519,370 (GRCm39)	G109V		Het
Impg2	A	G	16: 56,080,611 (GRCm39)	E805G	probably benign	Het
Itgb6	T	A	2: 60,483,629 (GRCm39)	N260Y	probably damaging	Het
Maneal	G	T	4: 124,750,483 (GRCm39)	Y424*	probably null	Het
Map4k2	T	G	19: 6,401,640 (GRCm39)	C677W	probably damaging	Het
Med6	T	C	12: 81,638,034 (GRCm39)	H59R	probably benign	Het
Mms22l	T	A	4: 24,536,245 (GRCm39)	D571E	probably benign	Het
Mroh8	A	G	2: 157,067,493 (GRCm39)	F622S	probably damaging	Het
Mrpl44	A	T	1: 79,753,974 (GRCm39)	Q42L	probably damaging	Het
Myh8	G	T	11: 67,174,203 (GRCm39)		probably benign	Het
Ndufb2	T	C	6: 39,569,586 (GRCm39)	V13A	probably benign	Het
Nf1	T	A	11: 79,316,442 (GRCm39)	L499Q	probably damaging	Het
Opa1	T	C	16: 29,448,450 (GRCm39)	C874R	probably damaging	Het
Or1i2	T	C	10: 78,447,698 (GRCm39)	Y259C	probably damaging	Het
Or4c99	T	G	2: 88,329,855 (GRCm39)	V142G	probably damaging	Het
Or4k37	T	A	2: 111,158,881 (GRCm39)	L39*	probably null	Het
Or6c6	T	C	10: 129,187,194 (GRCm39)	I254T	probably damaging	Het
Pld3	T	A	7: 27,235,286 (GRCm39)	D314V	possibly damaging	Het
Pou6f1	A	C	15: 100,485,686 (GRCm39)	C114W	possibly damaging	Het
Prl2c1	A	C	13: 28,033,389 (GRCm39)	Q2P	possibly damaging	Het
Prl2c1	G	T	13: 28,033,390 (GRCm39)	Q2H	probably benign	Het
Pzp	C	A	6: 128,471,701 (GRCm39)	K908N	probably damaging	Het
Rab6b	G	A	9: 103,039,825 (GRCm39)	G125D	probably damaging	Het
Rhbdd2	C	T	5: 135,663,985 (GRCm39)	T69I	probably benign	Het
Samd9l	A	T	6: 3,374,221 (GRCm39)	Y1013*	probably null	Het
Slc13a4	T	A	6: 35,260,230 (GRCm39)	T217S	probably benign	Het
Slc66a3	A	G	12: 17,043,481 (GRCm39)	W150R	probably damaging	Het
Smarcad1	T	C	6: 65,049,033 (GRCm39)	L253S	probably benign	Het
Snrpa	C	A	7: 26,891,034 (GRCm39)	V146L	possibly damaging	Het
Spata31f1e	A	G	4: 42,792,992 (GRCm39)	V380A	probably benign	Het
Srrt	A	T	5: 137,298,238 (GRCm39)	D311E	probably benign	Het
Stk32b	A	T	5: 37,806,483 (GRCm39)	F20L	probably damaging	Het
Sult2a7	T	C	7: 14,224,014 (GRCm39)	T136A	probably benign	Het
Sv2a	G	A	3: 96,094,396 (GRCm39)	V244I	probably benign	Het
Tesk1	T	A	4: 43,446,070 (GRCm39)		probably null	Het
Tmem260	A	G	14: 48,689,370 (GRCm39)	H63R	probably damaging	Het
Ugt1a6b	A	G	1: 88,034,794 (GRCm39)	E44G	probably benign	Het
Unc79	A	T	12: 103,074,513 (GRCm39)	I1363F	probably damaging	Het
Usp15	T	A	10: 122,988,953 (GRCm39)	N255Y	probably benign	Het
Usp35	A	G	7: 96,961,167 (GRCm39)	V753A	possibly damaging	Het
Usp35	T	C	7: 96,961,270 (GRCm39)	N719D	probably benign	Het
Vmn2r104	T	A	17: 20,262,988 (GRCm39)	I158L	probably benign	Het
Vmn2r69	A	T	7: 85,064,883 (GRCm39)	M1K	probably null	Het
Zan	C	T	5: 137,396,522 (GRCm39)	E4345K	unknown	Het
Zc3h7a	A	T	16: 10,965,147 (GRCm39)	M662K	possibly damaging	Het
Zfp512	G	A	5: 31,634,134 (GRCm39)	V438M	probably damaging	Het
Zfy1	T	C	Y: 738,945 (GRCm39)	D87G	unknown	Het
Zmym4	A	T	4: 126,799,819 (GRCm39)	V653E	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
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
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
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'- CCATAGAGCTGACACAATATGTAGCT -3'
(R):5'- AATCAGGGCATAGCTAGATGTT -3'

Sequencing Primer
(F):5'- TTTTCAGTCCACAACTAAAGTTCC -3'
(R):5'- GAGTACCCAGTGAAAGTATTTTTCC -3'

Posted On

2021-04-30