Mutagenetix > Incidental Mutation

Incidental Mutation 'R5933:Dnah7c'

461970

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

044127-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.405) question?

Stock #

R5933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46425592-46807476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46519215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 494 (Y494H)

Ref Sequence

ENSEMBL: ENSMUSP00000140430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000189749]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000189749
AA Change: Y494H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: Y494H

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	37	48	N/A	INTRINSIC
coiled coil region	714	746	N/A	INTRINSIC
Pfam:DHC_N2	754	1167	2.2e-138	PFAM
AAA	1320	1459	4e-3	SMART
Blast:AAA	1601	1829	4e-87	BLAST
AAA	1968	2116	8.7e-4	SMART
Pfam:AAA_8	2303	2574	6.2e-73	PFAM
Pfam:MT	2586	2935	5.4e-52	PFAM
Pfam:AAA_9	2953	3183	7.4e-63	PFAM
Pfam:Dynein_heavy	3312	4021	1.3e-250	PFAM

Meta Mutation Damage Score

0.2614

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

94% (99/105)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,070,348	P1766L	probably damaging	Het
Abca13	A	G	11: 9,249,658	Q119R	possibly damaging	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Aipl1	A	C	11: 72,030,282	C237G	probably benign	Het
Ankdd1a	C	T	9: 65,509,696	A154T	probably benign	Het
Arglu1	T	C	8: 8,690,047	S91G	probably benign	Het
Arhgef33	C	A	17: 80,337,280	H13N	probably benign	Het
Atp1a4	A	G	1: 172,232,274	I796T	possibly damaging	Het
Birc6	C	G	17: 74,599,237	S1374R	probably damaging	Het
Birc6	T	A	17: 74,599,238	S72T	probably damaging	Het
Bmpr1b	T	C	3: 141,871,367	*59W	probably null	Het
Btbd16	A	T	7: 130,784,281	Q63L	probably damaging	Het
Cacna1c	C	T	6: 118,612,580	R1592H	probably damaging	Het
Caps2	G	A	10: 112,215,446	E541K	probably benign	Het
Card9	T	C	2: 26,352,497	E500G	probably damaging	Het
Carnmt1	T	C	19: 18,704,105	V396A	probably benign	Het
Ccnl1	T	A	3: 65,948,342	K320M	probably damaging	Het
Cdh20	A	C	1: 104,984,671	D550A	probably damaging	Het
Cdhr1	T	A	14: 37,089,462	T231S	probably benign	Het
Cenpe	T	C	3: 135,261,628	V2177A	probably benign	Het
Cfap69	A	G	5: 5,640,183	C161R	probably damaging	Het
Ctsd	C	T	7: 142,376,579	V403I	probably benign	Het
Cyth1	C	T	11: 118,185,759		probably null	Het
Dazl	A	T	17: 50,287,753		probably null	Het
Disp3	A	T	4: 148,241,313	C1329*	probably null	Het
Dld	C	T	12: 31,333,983	V374I	probably benign	Het
Dnttip2	T	A	3: 122,275,568	M144K	probably benign	Het
Drc1	A	T	5: 30,345,529	D132V	probably damaging	Het
Enpp6	A	G	8: 47,066,004	D269G	probably benign	Het
Ephx4	T	A	5: 107,403,765		probably null	Het
Evl	T	C	12: 108,683,257	S345P	possibly damaging	Het
Fam193a	A	T	5: 34,465,680	D1204V	probably damaging	Het
Fat2	A	T	11: 55,284,051	D1945E	probably damaging	Het
Fat4	T	C	3: 38,951,375		probably null	Het
Fbln7	A	T	2: 128,877,498	M72L	probably benign	Het
Flnc	T	C	6: 29,441,106	V353A	probably damaging	Het
Fry	T	C	5: 150,390,800		probably benign	Het
Galnt14	A	T	17: 73,526,305	C225S	probably benign	Het
Gapvd1	T	C	2: 34,684,291	S1265G	probably benign	Het
Gm13030	A	G	4: 138,871,204	F136S	unknown	Het
Gucy1a1	T	C	3: 82,094,807	H655R	probably damaging	Het
Hk1	A	G	10: 62,269,994	L890P	probably damaging	Het
Igfn1	T	A	1: 135,970,603	R742*	probably null	Het
Igkv12-49	T	C	6: 69,716,569		noncoding transcript	Het
Igkv2-109	T	A	6: 68,302,981	L62Q	possibly damaging	Het
Itgb3	A	G	11: 104,637,979	T311A	possibly damaging	Het
Kl	A	G	5: 150,989,483	E899G	probably damaging	Het
Kyat3	A	T	3: 142,723,260	D151V	probably damaging	Het
Morc2b	A	T	17: 33,138,609	M63K	possibly damaging	Het
Mtbp	T	A	15: 55,571,327	F298L	possibly damaging	Het
Mtmr3	C	T	11: 4,498,951	V272I	probably benign	Het
Muc4	A	G	16: 32,753,052	T977A	probably benign	Het
Nebl	G	A	2: 17,404,187	H367Y	probably benign	Het
Nop58	T	A	1: 59,704,665	Y274*	probably null	Het
Nuak1	T	A	10: 84,374,802	Q474L	probably damaging	Het
Obscn	A	G	11: 58,998,505	S7523P	unknown	Het
Olfr625-ps1	T	A	7: 103,683,473	C242S	probably damaging	Het
Oosp3	T	A	19: 11,705,389	D140E	probably benign	Het
Padi2	G	A	4: 140,917,641	R62H	probably benign	Het
Patl1	A	G	19: 11,939,772	N661S	probably benign	Het
Pcyox1l	G	T	18: 61,698,473	N238K	probably benign	Het
Pmch	A	G	10: 88,091,149	T5A	probably benign	Het
Polr3h	A	G	15: 81,916,634	L169P	probably damaging	Het
Ptpn4	A	G	1: 119,687,723	V567A	probably damaging	Het
Rasgrp2	T	G	19: 6,402,513	F39V	probably damaging	Het
Setd1b	G	A	5: 123,158,752		probably benign	Het
Sh3glb2	A	T	2: 30,350,389		probably null	Het
Slc46a3	A	T	5: 147,893,890	N44K	probably benign	Het
Slc9b1	T	A	3: 135,393,995	N425K	probably benign	Het
Slfn14	A	T	11: 83,279,462	V452E	probably damaging	Het
Slfn8	A	T	11: 83,003,335	M826K	probably benign	Het
Slit3	G	A	11: 35,629,751	V572M	probably benign	Het
Smr3a	C	A	5: 88,008,014		probably null	Het
Snap29	T	C	16: 17,406,330	S70P	probably damaging	Het
Svopl	T	A	6: 38,017,014		probably benign	Het
Tbc1d17	A	T	7: 44,845,337	F186I	probably damaging	Het
Tgm6	T	C	2: 130,141,256	V255A	probably damaging	Het
Tjp1	G	T	7: 65,302,852	T1498K	probably benign	Het
Tkfc	C	A	19: 10,597,347	E176D	probably benign	Het
Tmem102	C	T	11: 69,803,680	V489I	probably damaging	Het
Ttn	A	G	2: 76,721,437	V22930A	probably damaging	Het
Tyms	A	T	5: 30,073,359		probably null	Het
Uaca	T	A	9: 60,840,956	D67E	probably damaging	Het
Unc119b	G	A	5: 115,127,449		probably benign	Het
Usp29	A	T	7: 6,961,745	T196S	probably benign	Het
Usp37	A	G	1: 74,485,982	S228P	probably damaging	Het
Usp42	C	A	5: 143,715,515	A918S	probably benign	Het
Vmn2r72	T	A	7: 85,737,850	L835F	probably benign	Het
Vps13a	T	C	19: 16,660,530	T2396A	probably benign	Het
Whrn	A	T	4: 63,494,708	S176T	probably damaging	Het
Zbtb42	T	C	12: 112,680,621	F410S	probably damaging	Het
Zfp616	T	C	11: 74,083,126	S74P	probably damaging	Het
Zswim6	A	G	13: 107,744,107		noncoding transcript	Het

Other mutations in Dnah7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Dnah7c	APN	1	46807289	missense	possibly damaging	0.72
IGL02958:Dnah7c	APN	1	46657111	missense	probably damaging	1.00
IGL03035:Dnah7c	APN	1	46524117	missense	probably benign	0.37
IGL03161:Dnah7c	APN	1	46467296	missense	probably benign	0.20
IGL03178:Dnah7c	APN	1	46467365	missense	probably benign
IGL03052:Dnah7c	UTSW	1	46632149	missense	probably damaging	1.00
R0751:Dnah7c	UTSW	1	46465905	missense	probably benign
R1029:Dnah7c	UTSW	1	46612721	missense	probably damaging	1.00
R3104:Dnah7c	UTSW	1	46798279	missense	probably damaging	0.97
R3977:Dnah7c	UTSW	1	46628911	missense	possibly damaging	0.75
R4003:Dnah7c	UTSW	1	46681817	missense	probably damaging	1.00
R4133:Dnah7c	UTSW	1	46665990	missense	probably benign	0.01
R4303:Dnah7c	UTSW	1	46748578	missense	probably damaging	1.00
R4329:Dnah7c	UTSW	1	46649281	missense	probably benign	0.33
R4434:Dnah7c	UTSW	1	46666282	missense	probably damaging	1.00
R4457:Dnah7c	UTSW	1	46740621	missense	probably damaging	1.00
R4470:Dnah7c	UTSW	1	46748635	missense	possibly damaging	0.56
R4507:Dnah7c	UTSW	1	46766611	missense	probably damaging	1.00
R4527:Dnah7c	UTSW	1	46532931	missense	probably benign	0.34
R4571:Dnah7c	UTSW	1	46533216	missense	probably damaging	0.99
R4589:Dnah7c	UTSW	1	46514583	nonsense	probably null
R4731:Dnah7c	UTSW	1	46770173	missense	probably damaging	1.00
R4732:Dnah7c	UTSW	1	46770173	missense	probably damaging	1.00
R4733:Dnah7c	UTSW	1	46770173	missense	probably damaging	1.00
R4747:Dnah7c	UTSW	1	46533168	missense	probably damaging	1.00
R4845:Dnah7c	UTSW	1	46793532	missense	probably damaging	1.00
R4873:Dnah7c	UTSW	1	46688925	missense	probably benign
R4875:Dnah7c	UTSW	1	46688925	missense	probably benign
R4916:Dnah7c	UTSW	1	46595008	missense	probably damaging	1.00
R5241:Dnah7c	UTSW	1	46530500	missense	probably benign
R5279:Dnah7c	UTSW	1	46519269	missense	probably benign	0.14
R5327:Dnah7c	UTSW	1	46665568	missense	probably benign	0.05
R5546:Dnah7c	UTSW	1	46666317	missense	probably damaging	1.00
R5605:Dnah7c	UTSW	1	46798235	missense	possibly damaging	0.84
R5637:Dnah7c	UTSW	1	46760361	splice site	probably null
R5639:Dnah7c	UTSW	1	46739668	missense	probably benign
R5663:Dnah7c	UTSW	1	46535148	missense	probably damaging	1.00
R5718:Dnah7c	UTSW	1	46748666	missense	possibly damaging	0.47
R5759:Dnah7c	UTSW	1	46615367	missense	probably damaging	1.00
R5771:Dnah7c	UTSW	1	46639665	missense	probably benign	0.00
R5784:Dnah7c	UTSW	1	46524068	missense	possibly damaging	0.80
R5800:Dnah7c	UTSW	1	46647015	missense	probably benign	0.01
R5948:Dnah7c	UTSW	1	46672497	missense	probably benign	0.21
R6034:Dnah7c	UTSW	1	46457258	missense	probably benign	0.00
R6034:Dnah7c	UTSW	1	46457258	missense	probably benign	0.00
R6487:Dnah7c	UTSW	1	46769124	missense	probably damaging	1.00
R6536:Dnah7c	UTSW	1	46658290	missense	probably benign	0.00
R6614:Dnah7c	UTSW	1	46649340	missense	probably benign
R6614:Dnah7c	UTSW	1	46649351	missense	probably benign
R6615:Dnah7c	UTSW	1	46515439	missense	probably benign	0.01
R6615:Dnah7c	UTSW	1	46649340	missense	probably benign
R6615:Dnah7c	UTSW	1	46649351	missense	probably benign
R6649:Dnah7c	UTSW	1	46649340	missense	probably benign
R6649:Dnah7c	UTSW	1	46649351	missense	probably benign
R6650:Dnah7c	UTSW	1	46649340	missense	probably benign
R6650:Dnah7c	UTSW	1	46649351	missense	probably benign
R6651:Dnah7c	UTSW	1	46649340	missense	probably benign
R6651:Dnah7c	UTSW	1	46649351	missense	probably benign
R6653:Dnah7c	UTSW	1	46649340	missense	probably benign
R6653:Dnah7c	UTSW	1	46649351	missense	probably benign
R6714:Dnah7c	UTSW	1	46740806	missense	probably damaging	0.99
R6729:Dnah7c	UTSW	1	46672521	missense	possibly damaging	0.46
R6760:Dnah7c	UTSW	1	46649340	missense	probably benign
R6760:Dnah7c	UTSW	1	46649351	missense	probably benign
R6763:Dnah7c	UTSW	1	46628890	missense	possibly damaging	0.60
R6866:Dnah7c	UTSW	1	46657243	missense	probably damaging	1.00
R6880:Dnah7c	UTSW	1	46527671	missense	probably damaging	0.97
R6988:Dnah7c	UTSW	1	46666213	missense	possibly damaging	0.68
R6995:Dnah7c	UTSW	1	46455813	missense	probably benign	0.07
R7007:Dnah7c	UTSW	1	46532750	missense	probably benign	0.04
R7086:Dnah7c	UTSW	1	46750125	missense	probably benign	0.00
R7128:Dnah7c	UTSW	1	46527485	missense	probably benign
R7131:Dnah7c	UTSW	1	46681772	missense	probably benign	0.00
R7135:Dnah7c	UTSW	1	46533208	missense	probably damaging	1.00
R7171:Dnah7c	UTSW	1	46680738	missense	probably damaging	0.99
R7176:Dnah7c	UTSW	1	46430809	missense	probably benign	0.00
R7221:Dnah7c	UTSW	1	46455777	missense	possibly damaging	0.87
R7310:Dnah7c	UTSW	1	46596967	missense	possibly damaging	0.94
R7319:Dnah7c	UTSW	1	46780775	missense	probably benign	0.31
R7319:Dnah7c	UTSW	1	46784448	missense	possibly damaging	0.95
R7404:Dnah7c	UTSW	1	46666063	missense	possibly damaging	0.52
R7452:Dnah7c	UTSW	1	46647036	missense	possibly damaging	0.91
R7515:Dnah7c	UTSW	1	46457290	missense	probably benign
R7534:Dnah7c	UTSW	1	46770067	missense	probably damaging	0.98
R7542:Dnah7c	UTSW	1	46784498	missense	probably benign	0.00
R7605:Dnah7c	UTSW	1	46632310	missense	probably damaging	1.00
R7643:Dnah7c	UTSW	1	46602813	missense	probably benign
R7770:Dnah7c	UTSW	1	46626300	splice site	probably null
R7884:Dnah7c	UTSW	1	46791769	missense	probably benign	0.23
R7899:Dnah7c	UTSW	1	46514701	missense	probably benign	0.00
R8025:Dnah7c	UTSW	1	46457296	missense	probably benign	0.01
R8057:Dnah7c	UTSW	1	46688952	missense	possibly damaging	0.52
R8191:Dnah7c	UTSW	1	46607458	missense	possibly damaging	0.56
R8255:Dnah7c	UTSW	1	46659429	missense	probably damaging	1.00
R8428:Dnah7c	UTSW	1	46672376	missense	probably damaging	1.00
R8441:Dnah7c	UTSW	1	46533238	missense	probably damaging	1.00
R8485:Dnah7c	UTSW	1	46680792	missense	probably benign	0.05
R8559:Dnah7c	UTSW	1	46725139	missense	probably damaging	1.00
R8752:Dnah7c	UTSW	1	46672541	missense	probably benign	0.00
R8869:Dnah7c	UTSW	1	46632344	missense	probably damaging	0.97
R9058:Dnah7c	UTSW	1	46766656	missense	probably damaging	0.97
R9121:Dnah7c	UTSW	1	46665490	missense	probably damaging	0.97
R9121:Dnah7c	UTSW	1	46777736	missense	probably benign	0.00
R9246:Dnah7c	UTSW	1	46532774	missense	possibly damaging	0.51
R9319:Dnah7c	UTSW	1	46482008	missense	possibly damaging	0.94
R9388:Dnah7c	UTSW	1	46740726	missense	probably damaging	1.00
Z1176:Dnah7c	UTSW	1	46467302	missense	probably benign	0.00
Z1176:Dnah7c	UTSW	1	46615281	missense	probably damaging	1.00
Z1176:Dnah7c	UTSW	1	46639665	missense	probably benign
Z1176:Dnah7c	UTSW	1	46646992	critical splice acceptor site	probably null
Z1176:Dnah7c	UTSW	1	46760316	missense	possibly damaging	0.95
Z1177:Dnah7c	UTSW	1	46654103	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GTAAGATTGACACTTTCCGGGAG -3'
(R):5'- AGACAGACCATTCTCTTCCATCAAG -3'

Sequencing Primer
(F):5'- CACTTTCCGGGAGATAATATAGTAGG -3'
(R):5'- CTTCCATCAAGAGTCATAGAGAAAGG -3'

Posted On

2017-02-28