Mutagenetix > Incidental Mutations

Incidental Mutation 'R8191:Dnah7c'

635124

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R8191 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46425592-46807476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46607458 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1220 (I1220V)

Ref Sequence

ENSEMBL: ENSMUSP00000140430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178395] [ENSMUST00000189749]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000178395

SMART Domains

Protein: ENSMUSP00000136771
Gene: ENSMUSG00000101337

Domain	Start	End	E-Value	Type
Pfam:AAA_6	1	204	5.4e-82	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189749
AA Change: I1220V

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: I1220V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	G	T	16: 90,931,001	N100K	probably damaging	Het
1700037C18Rik	G	A	16: 3,907,054	R49W	probably damaging	Het
Adamts4	T	C	1: 171,252,723	S282P		Het
AI314180	A	T	4: 58,872,587		probably null	Het
Aqp4	A	G	18: 15,398,165	S180P	probably benign	Het
Armc2	T	G	10: 41,963,751	E406A	probably benign	Het
Atp13a3	A	T	16: 30,349,780	Y464N	probably damaging	Het
B3gnt3	C	A	8: 71,693,478	V136L	probably benign	Het
Cacna1s	C	T	1: 136,108,155	H1378Y	probably damaging	Het
Ccnk	A	T	12: 108,193,674	E138D	probably benign	Het
Cenpe	A	G	3: 135,251,614	K1878E	probably benign	Het
Cep57l1	T	A	10: 41,740,959	I111L	probably damaging	Het
Copg2	T	C	6: 30,813,730	I509V	probably benign	Het
Cux2	T	A	5: 121,874,154	D406V	probably benign	Het
Cyp2a12	G	T	7: 27,031,104	A165S	probably benign	Het
Dnaaf5	T	G	5: 139,181,495	S719A	probably benign	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Dusp10	T	A	1: 184,037,552	D238E	possibly damaging	Het
Dync1li1	C	A	9: 114,709,185	D203E	probably benign	Het
Eif5b	T	C	1: 38,036,202	S587P	probably damaging	Het
Ephb2	G	A	4: 136,658,945	T832I	probably damaging	Het
Exoc1	T	A	5: 76,559,827		probably null	Het
Fam193a	T	A	5: 34,440,573	N571K	probably damaging	Het
Fem1a	T	A	17: 56,258,356	I483N	probably damaging	Het
Fgf20	C	A	8: 40,308,320		probably benign	Het
Fkbp1a	C	T	2: 151,557,436	P98S		Het
Gm9833	G	T	3: 10,088,854	V228F	probably damaging	Het
Gpsm3	A	T	17: 34,590,477	D19V	probably benign	Het
Ido2	C	A	8: 24,533,680	G381W	probably damaging	Het
Ifi204	T	C	1: 173,751,660	T540A	possibly damaging	Het
Isl1	A	T	13: 116,305,418	M93K	probably benign	Het
Map3k10	T	A	7: 27,663,246	S472C	probably damaging	Het
Mcrs1	A	T	15: 99,243,325	V432E	probably damaging	Het
Metap2	A	G	10: 93,865,405		probably null	Het
Muc5b	A	G	7: 141,867,684	S4304G	probably benign	Het
Nell1	T	C	7: 50,448,874	V308A	unknown	Het
Olfr1511	A	G	14: 52,390,530	V81A	probably benign	Het
Olfr984	A	T	9: 40,101,471	H6Q	probably benign	Het
Plxna4	C	A	6: 32,516,950	V244F	possibly damaging	Het
Pnpla6	T	C	8: 3,542,382	S1224P	probably benign	Het
Ripk4	A	G	16: 97,763,526		probably benign	Het
Rnpep	T	C	1: 135,272,434	E261G	possibly damaging	Het
Robo1	C	A	16: 72,933,254	S194R	probably damaging	Het
Rpusd1	C	G	17: 25,728,637	Y99*	probably null	Het
Scarf1	T	C	11: 75,522,239	M437T	probably benign	Het
Sh3tc2	G	T	18: 61,973,358	D153Y	probably damaging	Het
Siglec1	T	C	2: 131,085,679	Y69C	probably damaging	Het
Slc25a34	T	C	4: 141,620,584	Y262C	probably damaging	Het
Srrm2	T	A	17: 23,820,245	N1954K	probably damaging	Het
St6galnac2	T	C	11: 116,681,922	Y236C	probably damaging	Het
Stac3	T	A	10: 127,508,199	I322N	probably damaging	Het
Tcaf1	T	C	6: 42,675,256	Q764R	probably damaging	Het
Tcf20	G	A	15: 82,853,405	R1282*	probably null	Het
Tlr2	T	A	3: 83,836,514	K754M	probably damaging	Het
Tlr2	T	G	3: 83,836,515	K754Q	probably damaging	Het
Tnn	C	T	1: 160,125,518	V651M	probably damaging	Het
Ttn	T	C	2: 76,870,739	H9622R	unknown	Het
Tubgcp6	C	T	15: 89,120,640	G259S	probably damaging	Het
Ubr5	C	A	15: 38,006,507	C1174F		Het
Ugt2b35	T	A	5: 87,001,443	S184R	probably damaging	Het
Vit	C	T	17: 78,546,399	H25Y	probably benign	Het
Vmn1r177	G	A	7: 23,866,311	Q47*	probably null	Het
Vmn2r104	A	T	17: 20,030,203	V602D	possibly damaging	Het
Vmn2r115	A	G	17: 23,359,556	T668A	probably damaging	Het
Vmn2r125	T	G	4: 156,351,414	C362W	probably damaging	Het
Vwa7	A	G	17: 35,019,736	T267A	probably damaging	Het
Wdr63	G	T	3: 146,094,311	P158H	probably damaging	Het
Xpa	C	A	4: 46,183,225	R188L	possibly damaging	Het
Zfp143	C	T	7: 110,077,157	T249I	probably damaging	Het
Zfp607a	A	G	7: 27,879,443	E646G	possibly damaging	Het
Zfp729a	A	T	13: 67,621,719	S130R	probably benign	Het
Zswim3	C	A	2: 164,820,208	Q203K	probably damaging	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
R5933:Dnah7c	UTSW	1	46519215	missense	probably damaging	1.00
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
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'- TTTGCCCACTGTGTCTGCAAG -3'
(R):5'- GTGAGACCACTTACTTGCCAG -3'

Sequencing Primer
(F):5'- GCAAGGTGGGTTTGTTTACTTAAAAC -3'
(R):5'- GAGACCACTTACTTGCCAGTAGTATC -3'

Posted On

2020-07-13