Mutagenetix > Incidental Mutations

Incidental Mutation 'R6211:Dnah7a'

503431

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: 0.119) question?

Stock #

R6211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53397006-53706784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53419636 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 3781 (M3781T)

Ref Sequence

ENSEMBL: ENSMUSP00000092571 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094964
AA Change: M3781T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092571
Gene: ENSMUSG00000096141
AA Change: M3781T

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,239,004	H1035Q	possibly damaging	Het
Acin1	A	T	14: 54,644,046	W391R	probably damaging	Het
Arl6ip1	A	T	7: 118,127,250	S18R	probably benign	Het
Armc3	G	A	2: 19,296,803		probably null	Het
Casc1	C	T	6: 145,200,491	R95Q	probably damaging	Het
Ccdc162	G	T	10: 41,630,145	S883*	probably null	Het
Cd300lg	A	G	11: 102,054,169	M358V	possibly damaging	Het
Cdh23	A	G	10: 60,410,821	V949A	possibly damaging	Het
Cenpo	C	T	12: 4,216,733	S126N	probably benign	Het
Chd3	A	T	11: 69,352,677	D1366E	probably damaging	Het
Chd4	A	G	6: 125,101,285	E169G	possibly damaging	Het
Clec1b	A	G	6: 129,401,477	T24A	possibly damaging	Het
Clhc1	A	G	11: 29,578,145	I558V	probably damaging	Het
Col5a2	T	A	1: 45,376,666	R1440S	probably damaging	Het
Cops3	A	G	11: 59,817,901		probably benign	Het
Cxcr4	A	G	1: 128,589,450	V158A	probably damaging	Het
Elovl5	C	A	9: 77,981,502	T217K	probably damaging	Het
Fbln7	G	T	2: 128,895,340	M358I	probably damaging	Het
Fbxl13	C	T	5: 21,484,021	R763Q	possibly damaging	Het
Gabrr3	C	A	16: 59,448,108	N361K	probably benign	Het
Gbp7	A	G	3: 142,545,993	M534V	probably benign	Het
Hcar2	G	A	5: 123,864,954	T162I	probably benign	Het
Hdc	A	T	2: 126,593,977	L658Q	probably damaging	Het
Hivep3	A	G	4: 120,098,405	Y1306C	probably damaging	Het
Homer3	C	T	8: 70,285,524	R49C	probably damaging	Het
Hspa4	C	T	11: 53,262,939	E702K	probably benign	Het
Iqgap3	A	G	3: 88,091,515	N308D	probably benign	Het
Itga8	G	A	2: 12,193,509	T555M	probably damaging	Het
Lrfn5	G	T	12: 61,839,470	V15L	probably benign	Het
Lrrk1	T	C	7: 66,302,710	K493E	possibly damaging	Het
Lyzl6	A	G	11: 103,635,063	I77T	probably damaging	Het
Mavs	G	T	2: 131,240,391	R65L	probably damaging	Het
Mdn1	T	G	4: 32,696,269	D1217E	probably benign	Het
Olfr103	A	T	17: 37,336,708	F175I	possibly damaging	Het
Olfr1502	A	G	19: 13,862,574	I260M	probably benign	Het
Olfr648	A	T	7: 104,179,747	Y220*	probably null	Het
Otof	C	A	5: 30,371,900	V1762L	probably damaging	Het
Pcdha12	T	C	18: 37,020,321	L31P	probably damaging	Het
Pxk	C	A	14: 8,163,952	P515T	probably damaging	Het
Qrich2	A	T	11: 116,453,542	D1759E	probably benign	Het
Rps6ka1	A	T	4: 133,869,306	F33Y	probably damaging	Het
Rxfp2	G	A	5: 150,044,126		probably null	Het
Slc23a4	A	T	6: 34,956,961	I202N	probably damaging	Het
Slc24a5	A	T	2: 125,088,251	I491F	probably benign	Het
Slco1a1	T	A	6: 141,909,049	K625N	probably benign	Het
Snx31	A	G	15: 36,546,885	V51A	probably damaging	Het
Sox6	G	T	7: 115,801,462	H48Q	probably damaging	Het
Tas2r109	A	T	6: 132,980,624	Y114*	probably null	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Timm13	A	C	10: 80,900,480		probably null	Het
Tpsb2	G	A	17: 25,367,763	A250T	possibly damaging	Het
Trpm6	T	C	19: 18,783,128	I131T	probably damaging	Het
Vars2	A	T	17: 35,665,662		probably null	Het
Vmn2r35	T	A	7: 7,786,528	I737F	probably damaging	Het
Wdr46	C	A	17: 33,944,485	T339K	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
R5946:Dnah7a	UTSW	1	53559308	missense	probably damaging	1.00
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
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'- CACTGTGTTGTCTAGCATACCC -3'
(R):5'- GCCGCCCTTTGACTTTTATGAG -3'

Sequencing Primer
(F):5'- AGTACTTTCCAGTATCTGACACTAG -3'
(R):5'- CCCTTTGACTTTTATGAGGATGTTTG -3'

Posted On

2018-02-27