Mutagenetix > Incidental Mutation

Incidental Mutation 'R6554:Dync2h1'

521857

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

044679-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6554 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6928550-7177619 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7037699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3393 (V3393A)

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: V3386A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000046733
Gene: ENSMUSG00000047193
AA Change: V3386A

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: V3386A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120007
Gene: ENSMUSG00000047193
AA Change: V3386A

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: V3393A

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116679
Gene: ENSMUSG00000047193
AA Change: V3393A

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

0.7384

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (37/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,618,246 (GRCm39)	R180C	probably damaging	Het
B3galt9	C	A	2: 34,729,276 (GRCm39)	S358R	probably benign	Het
Ces1b	C	A	8: 93,791,619 (GRCm39)	V327L	probably benign	Het
Cps1	C	T	1: 67,213,628 (GRCm39)	R787*	probably null	Het
Dmrt2	C	T	19: 25,655,312 (GRCm39)	P304S	probably damaging	Het
Dop1b	A	G	16: 93,557,346 (GRCm39)	D429G	probably benign	Het
Dync1h1	T	A	12: 110,616,282 (GRCm39)	M3111K	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fam184a	T	C	10: 53,517,063 (GRCm39)	D1007G	possibly damaging	Het
Flt3	A	C	5: 147,312,545 (GRCm39)	L132W	probably damaging	Het
Gm14322	G	A	2: 177,410,220 (GRCm39)	S60N	possibly damaging	Het
Katnip	C	T	7: 125,449,914 (GRCm39)	R993C	probably damaging	Het
Kcnj16	T	A	11: 110,916,131 (GRCm39)	Y264*	probably null	Het
Klkb1	T	A	8: 45,726,591 (GRCm39)	I471F	probably damaging	Het
Lrfn4	T	C	19: 4,663,914 (GRCm39)	T207A	probably damaging	Het
Mfsd4b5	T	A	10: 39,862,428 (GRCm39)	T32S	probably benign	Het
Mtbp	A	G	15: 55,430,645 (GRCm39)	D234G	probably damaging	Het
Nfix	T	C	8: 85,454,279 (GRCm39)	T218A	possibly damaging	Het
Nsd3	A	T	8: 26,152,891 (GRCm39)	E410D	probably damaging	Het
Or4g17	C	T	2: 111,209,504 (GRCm39)	S53F	possibly damaging	Het
Or5aq7	A	T	2: 86,937,970 (GRCm39)	S254T	probably benign	Het
Reln	T	C	5: 22,101,838 (GRCm39)	Y3364C	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpina1d	A	T	12: 103,731,062 (GRCm39)	H305Q	probably benign	Het
Skic8	A	T	9: 54,634,929 (GRCm39)	I88N	probably damaging	Het
Skint8	G	A	4: 111,784,413 (GRCm39)	C13Y	probably benign	Het
Smc4	G	A	3: 68,936,848 (GRCm39)	V863I	probably benign	Het
Spdl1	T	G	11: 34,713,397 (GRCm39)	N224T	possibly damaging	Het
Sprr1b	T	G	3: 92,344,420 (GRCm39)	Q152P	possibly damaging	Het
St6gal1	A	G	16: 23,140,405 (GRCm39)	N192S	probably benign	Het
Tbc1d8	T	C	1: 39,445,903 (GRCm39)	N96S	probably damaging	Het
Tbccd1	A	T	16: 22,640,874 (GRCm39)	I501K	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Unk	T	C	11: 115,942,285 (GRCm39)	I293T	probably damaging	Het
Vmn2r61	A	G	7: 41,926,139 (GRCm39)	E548G	probably damaging	Het
Wdr97	A	G	15: 76,239,178 (GRCm39)	D85G	possibly damaging	Het
Zeb2	A	T	2: 44,887,524 (GRCm39)	V496E	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
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
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'- CCTGAATGTTTCACTTCCACAG -3'
(R):5'- CCCAAAGGAGATATGGCGTGTTG -3'

Sequencing Primer
(F):5'- CTGCAAGTTTCTCCTGGT -3'
(R):5'- GTCTTGATTGTCTTTGAAAGCTACC -3'

Posted On

2018-06-06