Mutagenetix > Incidental Mutations

Incidental Mutation 'R5946:Dnah7a'

472146

Institutional Source

Beutler Lab

Gene Symbol

Dnah7a

Ensembl Gene

ENSMUSG00000096141

Gene Name

dynein, axonemal, heavy chain 7A

Synonyms

Dnahc7a, Dnahc7, LOC381341

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53397006-53706784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 53559308 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1393 (V1393G)

Ref Sequence

ENSEMBL: ENSMUSP00000092571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094964]

Predicted Effect

probably damaging
Transcript: ENSMUST00000094964
AA Change: V1393G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092571
Gene: ENSMUSG00000096141
AA Change: V1393G

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
coiled coil region	504	537	N/A	INTRINSIC
Pfam:DHC_N2	756	1165	3.1e-149	PFAM
AAA	1320	1459	2.46e-1	SMART
Blast:AAA	1601	1879	1e-87	BLAST
AAA	1968	2116	5.39e-2	SMART
Pfam:AAA_8	2303	2574	6.9e-75	PFAM
Pfam:MT	2586	2936	2.1e-55	PFAM
Pfam:AAA_9	2957	3182	1.3e-98	PFAM
Pfam:Dynein_heavy	3318	4020	2.3e-287	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,625,952	F1137S	probably damaging	Het
Actr6	G	T	10: 89,728,192	Q73K	probably benign	Het
Adamtsl3	G	A	7: 82,576,057	G358D	probably damaging	Het
Aggf1	A	G	13: 95,371,576	V94A	probably damaging	Het
Arpc3	A	G	5: 122,403,396	Y57C	probably damaging	Het
Asb2	A	G	12: 103,321,555	Y630H	probably benign	Het
Atp1a1	A	T	3: 101,589,774	N405K	probably benign	Het
C6	G	T	15: 4,808,514	D869Y	possibly damaging	Het
Cds2	A	G	2: 132,297,248	Y137C	probably damaging	Het
Ceacam12	A	T	7: 18,069,206	E179V	probably damaging	Het
Chgb	T	A	2: 132,792,596	Y153N	probably benign	Het
Cit	T	A	5: 115,997,534	L1831Q	probably damaging	Het
Cpne8	C	A	15: 90,488,988	*578L	probably null	Het
Cspg5	A	G	9: 110,251,083	T440A	probably damaging	Het
Dnajb8	A	G	6: 88,222,593	D37G	probably benign	Het
Dst	A	G	1: 34,174,192	I1063M	probably benign	Het
Efs	T	G	14: 54,919,494		probably null	Het
Gpatch1	A	G	7: 35,291,832	S596P	probably damaging	Het
Hbs1l	C	A	10: 21,341,756	H190Q	probably benign	Het
Ighm	A	G	12: 113,422,709	V7A	unknown	Het
Ivd	A	T	2: 118,876,889	I295F	possibly damaging	Het
Kcnq5	A	C	1: 21,505,707	S258A	probably damaging	Het
Mad1l1	G	T	5: 140,261,579	P331Q	probably damaging	Het
Mcf2l	G	T	8: 13,013,922	G1045C	probably damaging	Het
Mcoln1	T	A	8: 3,508,701	I233N	probably damaging	Het
Mmp13	T	C	9: 7,276,580	L225P	probably damaging	Het
Muc5ac	G	A	7: 141,817,907	C2615Y	possibly damaging	Het
Myh7b	T	C	2: 155,621,395	F516L	probably damaging	Het
Obsl1	A	T	1: 75,491,207	S1347R	probably damaging	Het
Ogn	A	G	13: 49,618,285	N207S	probably benign	Het
Olfr132	C	A	17: 38,130,707	A162S	probably benign	Het
Olfr874	T	A	9: 37,747,034	L300Q	probably damaging	Het
Pcdha2	G	T	18: 36,941,106	V597L	probably damaging	Het
Pcnt	T	A	10: 76,382,063	Y2126F	possibly damaging	Het
Pgbd5	A	T	8: 124,374,317	M400K	possibly damaging	Het
Pklr	A	T	3: 89,136,196	E5V	probably benign	Het
Pkp4	T	A	2: 59,305,067	D94E	probably benign	Het
Ppan	C	T	9: 20,889,673	Q111*	probably null	Het
Prkcb	A	G	7: 122,544,703	N330S	probably benign	Het
Prl4a1	T	A	13: 28,018,516	W25R	probably damaging	Het
Rars2	T	A	4: 34,656,855	H501Q	possibly damaging	Het
Ryr2	T	C	13: 11,726,953	D2114G	probably damaging	Het
Serinc2	G	T	4: 130,255,521	T351K	possibly damaging	Het
Slc22a12	A	G	19: 6,537,851	F358L	probably damaging	Het
Sorcs2	A	C	5: 36,029,083	V905G	probably damaging	Het
Tekt3	G	C	11: 63,094,747	A460P	probably damaging	Het
Tm4sf1	T	G	3: 57,292,868	I109L	possibly damaging	Het
Tmc5	A	T	7: 118,670,725	E899D	probably damaging	Het
Tmem268	C	T	4: 63,568,509	P90S	probably damaging	Het
Trim38	A	G	13: 23,782,734	M55V	probably benign	Het
Trip10	T	G	17: 57,250,963	V50G	probably damaging	Het
Usp25	T	A	16: 77,115,054	C990*	probably null	Het
Uts2	A	G	4: 150,999,049	D39G	probably benign	Het
Vezf1	T	A	11: 88,073,734	C49*	probably null	Het
Wee2	T	A	6: 40,463,212	N431K	probably null	Het
Yeats2	C	A	16: 20,207,763	Y796*	probably null	Het
Zfp592	G	A	7: 81,037,897	G890D	possibly damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het

Other mutations in Dnah7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Dnah7a	APN	1	53419684	missense	probably damaging	0.99
IGL00510:Dnah7a	APN	1	53501542	missense	probably damaging	1.00
IGL00545:Dnah7a	APN	1	53457746	missense	possibly damaging	0.87
IGL01320:Dnah7a	APN	1	53434046	missense	probably benign	0.32
IGL01322:Dnah7a	APN	1	53434046	missense	probably benign	0.32
IGL01357:Dnah7a	APN	1	53662381	missense	probably benign
IGL01417:Dnah7a	APN	1	53584600	missense	probably benign	0.01
IGL01508:Dnah7a	APN	1	53627072	missense	probably benign	0.00
IGL01511:Dnah7a	APN	1	53419595	missense	probably damaging	1.00
IGL01545:Dnah7a	APN	1	53518782	missense	probably benign
IGL01575:Dnah7a	APN	1	53427820	splice site	probably benign
IGL01667:Dnah7a	APN	1	53547292	missense	probably damaging	1.00
IGL01712:Dnah7a	APN	1	53423270	missense	probably benign	0.23
IGL01824:Dnah7a	APN	1	53504270	missense	probably benign
IGL01829:Dnah7a	APN	1	53618068	missense	possibly damaging	0.64
IGL01861:Dnah7a	APN	1	53640349	missense	probably benign	0.01
IGL01861:Dnah7a	APN	1	53584449	splice site	probably benign
IGL01984:Dnah7a	APN	1	53702015	splice site	probably null
IGL02056:Dnah7a	APN	1	53504342	missense	probably benign	0.17
IGL02069:Dnah7a	APN	1	53561894	splice site	probably benign
IGL02072:Dnah7a	APN	1	53605827	missense	probably damaging	1.00
IGL02110:Dnah7a	APN	1	53411580	missense	possibly damaging	0.52
IGL02120:Dnah7a	APN	1	53495717	missense	possibly damaging	0.46
IGL02128:Dnah7a	APN	1	53437513	missense	probably damaging	1.00
IGL02135:Dnah7a	APN	1	53623473	missense	probably benign	0.01
IGL02151:Dnah7a	APN	1	53472864	missense	probably benign	0.08
IGL02156:Dnah7a	APN	1	53419723	missense	probably benign	0.27
IGL02270:Dnah7a	APN	1	53472893	missense	possibly damaging	0.93
IGL02282:Dnah7a	APN	1	53643510	missense	possibly damaging	0.93
IGL02328:Dnah7a	APN	1	53524937	critical splice donor site	probably null
IGL02370:Dnah7a	APN	1	53635397	missense	probably benign	0.00
IGL02420:Dnah7a	APN	1	53686543	missense	probably benign
IGL02458:Dnah7a	APN	1	53618328	nonsense	probably null
IGL02489:Dnah7a	APN	1	53647322	missense	possibly damaging	0.94
IGL02554:Dnah7a	APN	1	53618046	missense	possibly damaging	0.93
IGL02578:Dnah7a	APN	1	53432915	missense	probably benign	0.00
IGL02646:Dnah7a	APN	1	53525035	missense	probably damaging	0.99
IGL02675:Dnah7a	APN	1	53504024	missense	possibly damaging	0.96
IGL02688:Dnah7a	APN	1	53444472	missense	possibly damaging	0.93
IGL02858:Dnah7a	APN	1	53472959	splice site	probably benign
IGL02874:Dnah7a	APN	1	53605814	missense	possibly damaging	0.70
IGL02887:Dnah7a	APN	1	53522360	missense	possibly damaging	0.46
IGL02894:Dnah7a	APN	1	53577328	missense	probably benign	0.27
IGL02926:Dnah7a	APN	1	53495950	missense	possibly damaging	0.64
IGL03113:Dnah7a	APN	1	53433004	missense	possibly damaging	0.64
IGL03156:Dnah7a	APN	1	53605824	missense	probably damaging	0.97
IGL03195:Dnah7a	APN	1	53419607	missense	probably damaging	1.00
IGL03209:Dnah7a	APN	1	53686614	splice site	probably benign
IGL03214:Dnah7a	APN	1	53522209	critical splice donor site	probably null
IGL03242:Dnah7a	APN	1	53620723	missense	probably benign	0.02
IGL03251:Dnah7a	APN	1	53647274	missense	probably benign
IGL03265:Dnah7a	APN	1	53528848	missense	probably benign
IGL03277:Dnah7a	APN	1	53630322	missense	probably benign	0.00
IGL03278:Dnah7a	APN	1	53496965	missense	probably benign	0.07
IGL03356:Dnah7a	APN	1	53503934	missense	probably benign	0.01
PIT4378001:Dnah7a	UTSW	1	53531203	missense	probably damaging	0.99
R0046:Dnah7a	UTSW	1	53456874	splice site	probably null
R0051:Dnah7a	UTSW	1	53521086	splice site	probably benign
R0082:Dnah7a	UTSW	1	53518708	missense	probably damaging	1.00
R0111:Dnah7a	UTSW	1	53468684	missense	probably benign	0.03
R0122:Dnah7a	UTSW	1	53397142	missense	probably damaging	1.00
R0245:Dnah7a	UTSW	1	53501526	missense	probably damaging	1.00
R0278:Dnah7a	UTSW	1	53504146	missense	probably benign	0.00
R0309:Dnah7a	UTSW	1	53405690	missense	probably damaging	0.97
R0334:Dnah7a	UTSW	1	53433054	missense	possibly damaging	0.61
R0392:Dnah7a	UTSW	1	53504198	missense	probably damaging	0.97
R0452:Dnah7a	UTSW	1	53605819	missense	probably benign	0.00
R0511:Dnah7a	UTSW	1	53497126	missense	probably benign
R0576:Dnah7a	UTSW	1	53636087	missense	probably benign	0.12
R0592:Dnah7a	UTSW	1	53456612	missense	possibly damaging	0.91
R0628:Dnah7a	UTSW	1	53497105	missense	probably benign	0.18
R0689:Dnah7a	UTSW	1	53620681	nonsense	probably null
R0735:Dnah7a	UTSW	1	53544511	missense	possibly damaging	0.70
R0800:Dnah7a	UTSW	1	53565696	missense	probably damaging	1.00
R0829:Dnah7a	UTSW	1	53504079	missense	probably benign	0.07
R0842:Dnah7a	UTSW	1	53501674	missense	possibly damaging	0.88
R0879:Dnah7a	UTSW	1	53427860	missense	possibly damaging	0.85
R1331:Dnah7a	UTSW	1	53468669	missense	probably damaging	0.99
R1418:Dnah7a	UTSW	1	53647236	splice site	probably benign
R1421:Dnah7a	UTSW	1	53540873	splice site	probably benign
R1445:Dnah7a	UTSW	1	53528797	missense	probably benign	0.02
R1473:Dnah7a	UTSW	1	53496014	missense	probably benign	0.00
R1538:Dnah7a	UTSW	1	53495989	missense	possibly damaging	0.71
R1742:Dnah7a	UTSW	1	53456684	missense	probably benign	0.39
R1754:Dnah7a	UTSW	1	53504185	missense	probably benign	0.18
R1754:Dnah7a	UTSW	1	53561900	critical splice donor site	probably null
R1773:Dnah7a	UTSW	1	53432887	splice site	probably null
R1779:Dnah7a	UTSW	1	53577223	missense	probably benign
R1816:Dnah7a	UTSW	1	53631742	splice site	probably benign
R1817:Dnah7a	UTSW	1	53559148	missense	probably benign
R1818:Dnah7a	UTSW	1	53559148	missense	probably benign
R1819:Dnah7a	UTSW	1	53559148	missense	probably benign
R1873:Dnah7a	UTSW	1	53456532	splice site	probably benign
R1875:Dnah7a	UTSW	1	53456532	splice site	probably benign
R1884:Dnah7a	UTSW	1	53541000	missense	probably damaging	0.99
R1902:Dnah7a	UTSW	1	53535478	missense	probably damaging	1.00
R1903:Dnah7a	UTSW	1	53535478	missense	probably damaging	1.00
R1908:Dnah7a	UTSW	1	53631562	missense	probably benign
R1959:Dnah7a	UTSW	1	53684983	missense	probably benign	0.00
R1960:Dnah7a	UTSW	1	53684983	missense	probably benign	0.00
R1985:Dnah7a	UTSW	1	53503934	missense	probably benign	0.01
R1992:Dnah7a	UTSW	1	53582676	missense	possibly damaging	0.91
R2037:Dnah7a	UTSW	1	53582582	missense	probably benign	0.00
R2074:Dnah7a	UTSW	1	53457696	missense	probably benign	0.45
R2076:Dnah7a	UTSW	1	53503809	missense	probably benign	0.01
R2124:Dnah7a	UTSW	1	53496942	missense	possibly damaging	0.58
R2191:Dnah7a	UTSW	1	53605875	missense	possibly damaging	0.54
R2211:Dnah7a	UTSW	1	53479773	missense	probably benign	0.21
R2220:Dnah7a	UTSW	1	53521174	missense	probably benign
R2355:Dnah7a	UTSW	1	53582502	missense	probably benign	0.00
R2495:Dnah7a	UTSW	1	53605881	missense	probably damaging	1.00
R2901:Dnah7a	UTSW	1	53427872	missense	probably damaging	0.99
R2911:Dnah7a	UTSW	1	53427824	critical splice donor site	probably null
R2993:Dnah7a	UTSW	1	53503554	missense	probably damaging	1.00
R3522:Dnah7a	UTSW	1	53618116	missense	probably damaging	1.00
R3683:Dnah7a	UTSW	1	53444516	missense	probably benign
R3723:Dnah7a	UTSW	1	53447346	missense	probably benign	0.04
R3847:Dnah7a	UTSW	1	53501656	missense	probably benign	0.01
R4002:Dnah7a	UTSW	1	53631681	missense	probably benign
R4009:Dnah7a	UTSW	1	53525005	missense	probably damaging	1.00
R4063:Dnah7a	UTSW	1	53425217	missense	probably benign
R4193:Dnah7a	UTSW	1	53447334	missense	probably benign	0.00
R4236:Dnah7a	UTSW	1	53447365	missense	probably benign	0.00
R4399:Dnah7a	UTSW	1	53518727	missense	probably damaging	1.00
R4469:Dnah7a	UTSW	1	53444526	missense	probably benign	0.01
R4494:Dnah7a	UTSW	1	53449038	missense	probably benign	0.01
R4569:Dnah7a	UTSW	1	53411659	missense	probably benign	0.01
R4609:Dnah7a	UTSW	1	53456657	missense	possibly damaging	0.80
R4632:Dnah7a	UTSW	1	53427951	missense	probably damaging	0.97
R4703:Dnah7a	UTSW	1	53447317	critical splice donor site	probably null
R4781:Dnah7a	UTSW	1	53425208	missense	probably benign	0.28
R4854:Dnah7a	UTSW	1	53706729	utr 5 prime	probably benign
R4932:Dnah7a	UTSW	1	53503578	missense	possibly damaging	0.90
R4976:Dnah7a	UTSW	1	53698692	missense	probably benign
R5000:Dnah7a	UTSW	1	53567042	missense	probably damaging	1.00
R5023:Dnah7a	UTSW	1	53647248	nonsense	probably null
R5026:Dnah7a	UTSW	1	53662498	missense	probably damaging	0.99
R5050:Dnah7a	UTSW	1	53497096	missense	probably benign	0.01
R5119:Dnah7a	UTSW	1	53698692	missense	probably benign
R5151:Dnah7a	UTSW	1	53620770	missense	probably benign	0.00
R5155:Dnah7a	UTSW	1	53643495	missense	probably benign	0.01
R5180:Dnah7a	UTSW	1	53423287	missense	probably damaging	0.97
R5228:Dnah7a	UTSW	1	53437609	critical splice acceptor site	probably null
R5237:Dnah7a	UTSW	1	53447531	intron	probably null
R5267:Dnah7a	UTSW	1	53479692	missense	probably damaging	1.00
R5334:Dnah7a	UTSW	1	53503646	missense	probably benign	0.00
R5358:Dnah7a	UTSW	1	53547172	missense	probably damaging	1.00
R5401:Dnah7a	UTSW	1	53631653	missense	probably benign	0.01
R5412:Dnah7a	UTSW	1	53635344	missense	probably benign
R5496:Dnah7a	UTSW	1	53457768	missense	probably benign
R5531:Dnah7a	UTSW	1	53419748	missense	possibly damaging	0.50
R5536:Dnah7a	UTSW	1	53425253	missense	probably benign
R5543:Dnah7a	UTSW	1	53504069	missense	probably damaging	1.00
R5597:Dnah7a	UTSW	1	53534452	missense	probably benign	0.00
R5609:Dnah7a	UTSW	1	53582594	missense	probably benign	0.03
R5643:Dnah7a	UTSW	1	53405707	missense	probably benign
R5644:Dnah7a	UTSW	1	53540979	missense	probably benign	0.33
R5689:Dnah7a	UTSW	1	53405698	missense	possibly damaging	0.87
R5715:Dnah7a	UTSW	1	53413778	missense	probably damaging	1.00
R5780:Dnah7a	UTSW	1	53483319	missense	probably benign	0.03
R5893:Dnah7a	UTSW	1	53457785	missense	possibly damaging	0.66
R5995:Dnah7a	UTSW	1	53620670	missense	probably benign	0.00
R6102:Dnah7a	UTSW	1	53559140	missense	probably benign	0.00
R6108:Dnah7a	UTSW	1	53456845	missense	probably damaging	1.00
R6133:Dnah7a	UTSW	1	53419655	missense	probably benign	0.05
R6168:Dnah7a	UTSW	1	53411568	missense	probably damaging	1.00
R6175:Dnah7a	UTSW	1	53433022	missense	probably damaging	1.00
R6211:Dnah7a	UTSW	1	53419636	missense	probably damaging	0.99
R6282:Dnah7a	UTSW	1	53503601	missense	probably damaging	1.00
R6329:Dnah7a	UTSW	1	53541114	missense	probably damaging	1.00
R6344:Dnah7a	UTSW	1	53397190	missense	probably benign	0.02
R6530:Dnah7a	UTSW	1	53503697	missense	probably benign	0.04
R6574:Dnah7a	UTSW	1	53456534	critical splice donor site	probably null
R6608:Dnah7a	UTSW	1	53525118	missense	probably benign
R6625:Dnah7a	UTSW	1	53565757	missense	probably benign	0.05
R6661:Dnah7a	UTSW	1	53623450	missense	probably benign	0.00
R6681:Dnah7a	UTSW	1	53521226	critical splice acceptor site	probably null
R6747:Dnah7a	UTSW	1	53636062	missense	probably benign	0.01
R6774:Dnah7a	UTSW	1	53698651	missense	probably benign
R6823:Dnah7a	UTSW	1	53456704	missense	probably benign
R6900:Dnah7a	UTSW	1	53662351	missense	probably damaging	0.97
R6940:Dnah7a	UTSW	1	53631677	missense	probably benign	0.09
R6956:Dnah7a	UTSW	1	53577287	missense	probably benign	0.02
R6978:Dnah7a	UTSW	1	53662367	missense	probably null
R6988:Dnah7a	UTSW	1	53582625	missense	possibly damaging	0.62
R7026:Dnah7a	UTSW	1	53504289	missense	probably benign
R7027:Dnah7a	UTSW	1	53631506	missense	probably benign	0.01
R7033:Dnah7a	UTSW	1	53479661	missense	probably damaging	1.00
R7072:Dnah7a	UTSW	1	53419753	missense	probably benign	0.00
R7096:Dnah7a	UTSW	1	53483440	missense	possibly damaging	0.90
R7142:Dnah7a	UTSW	1	53413768	nonsense	probably null
R7144:Dnah7a	UTSW	1	53698708	splice site	probably null
R7167:Dnah7a	UTSW	1	53503776	missense	probably benign	0.00
R7182:Dnah7a	UTSW	1	53620461	intron	probably null
R7196:Dnah7a	UTSW	1	53684841	missense	probably benign	0.00
R7206:Dnah7a	UTSW	1	53698633	nonsense	probably null
R7215:Dnah7a	UTSW	1	53618350	missense	probably damaging	0.99
R7224:Dnah7a	UTSW	1	53397261	missense	probably benign	0.00
R7264:Dnah7a	UTSW	1	53518814	missense	probably benign
R7282:Dnah7a	UTSW	1	53684900	critical splice acceptor site	probably null
R7365:Dnah7a	UTSW	1	53497138	missense	probably benign
R7392:Dnah7a	UTSW	1	53501661	missense	probably benign	0.00
R7454:Dnah7a	UTSW	1	53518764	missense	probably benign
R7471:Dnah7a	UTSW	1	53419699	missense	probably damaging	1.00
R7547:Dnah7a	UTSW	1	53663837	missense	probably benign	0.00
R7554:Dnah7a	UTSW	1	53528698	missense	possibly damaging	0.87
R7655:Dnah7a	UTSW	1	53496005	missense	possibly damaging	0.50
R7656:Dnah7a	UTSW	1	53496005	missense	possibly damaging	0.50
R7666:Dnah7a	UTSW	1	53547297	missense	probably benign	0.00
R7721:Dnah7a	UTSW	1	53631683	missense	probably benign
X0027:Dnah7a	UTSW	1	53472930	missense	probably damaging	1.00
Z1088:Dnah7a	UTSW	1	53468643	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTAGGAGATCGGTACCTGC -3'
(R):5'- CTCAGAGCAAAGGCAATACATTG -3'

Sequencing Primer
(F):5'- CTAGGAGATCGGTACCTGCATTAATG -3'
(R):5'- AGGCAATACATTGGGAAGTTTTC -3'

Posted On

2017-03-31