Mutagenetix > Incidental Mutations

Incidental Mutation 'R3977:Dnah7c'

474975

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

040940-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.379) question?

Stock #

R3977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46425592-46807476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46628911 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1526 (I1526T)

Ref Sequence

ENSEMBL: ENSMUSP00000140430 (fasta)

Gene Model

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

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: I1526T

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: I1526T

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: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,981,838	P942L	possibly damaging	Het
Adam28	A	G	14: 68,610,994	V671A	probably benign	Het
Arfgef1	A	G	1: 10,209,634	V236A	probably benign	Het
B020004C17Rik	G	T	14: 57,017,188	M156I	possibly damaging	Het
Bicral	T	A	17: 46,830,991	M1L	unknown	Het
Brpf3	A	G	17: 28,807,042	E363G	possibly damaging	Het
Ccdc96	T	C	5: 36,485,166	L172P	possibly damaging	Het
Cln3	G	A	7: 126,580,136		probably benign	Het
Fmo3	T	G	1: 162,958,578	E281A	probably damaging	Het
Frem2	A	G	3: 53,652,070	I1672T	probably benign	Het
Gbp2b	A	G	3: 142,603,709	I194V	probably benign	Het
Gprc6a	C	A	10: 51,621,101	V449L	probably benign	Het
Hk1	A	G	10: 62,290,319	V396A	probably benign	Het
Hoxc13	T	C	15: 102,921,240	V18A	possibly damaging	Het
Hr	A	G	14: 70,563,584	T699A	probably benign	Het
Il19	A	T	1: 130,936,033	C74S	probably damaging	Het
Krt2	T	C	15: 101,811,127	T703A	unknown	Het
Lrig2	A	T	3: 104,457,844	V664E	probably damaging	Het
Lrrc37a	T	C	11: 103,457,604	K2755R	unknown	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mbtd1	A	G	11: 93,905,175	N13D	probably benign	Het
Mfsd4b5	T	C	10: 39,974,708		probably benign	Het
Nras	A	G	3: 103,060,225	I46V	probably benign	Het
Oasl1	C	T	5: 114,932,898	T274I	probably damaging	Het
Ogfod2	C	A	5: 124,113,209		probably null	Het
Olfr1264	C	A	2: 90,021,745	G107V	probably damaging	Het
Olfr1369-ps1	T	A	13: 21,115,861	H56Q	probably benign	Het
Olfr1419	C	A	19: 11,870,505	R237L	possibly damaging	Het
Olfr1420	T	A	19: 11,896,516	F165Y	probably damaging	Het
Olfr774	C	T	10: 129,238,508	R120C	probably damaging	Het
Olfr96	T	C	17: 37,225,158	V11A	probably benign	Het
Pkmyt1	A	G	17: 23,735,331	M362V	probably benign	Het
Ppfia2	A	G	10: 106,830,629	T399A	possibly damaging	Het
Ppp1r12b	A	G	1: 134,765,975	S983P	probably benign	Het
Ptpn22	A	G	3: 103,873,641		probably benign	Het
Raph1	A	T	1: 60,498,523	D491E	probably benign	Het
Rc3h1	A	G	1: 160,959,399		probably null	Het
Rtn4	T	C	11: 29,693,819	L5P	probably benign	Het
Sdccag3	T	A	2: 26,384,793	N364I	probably damaging	Het
Slc23a4	C	T	6: 34,953,788	V400I	probably benign	Het
Slco1a5	A	G	6: 142,258,972		probably benign	Het
Smpd1	T	C	7: 105,555,901	F329S	probably benign	Het
Sycp2l	A	G	13: 41,141,964	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,036,317	L262P	probably benign	Het
Ten1	G	A	11: 116,216,945		probably null	Het
Tfap2d	C	G	1: 19,104,494	S57C	possibly damaging	Het
Tnr	A	G	1: 159,892,023	M957V	probably benign	Het
Trbv13-3	A	G	6: 41,130,145		probably benign	Het
Trp53rkb	C	T	2: 166,795,526	A134V	possibly damaging	Het
Trp63	A	G	16: 25,820,740		probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r74	T	C	7: 85,958,137	Y126C	probably benign	Het
Vmn2r96	T	A	17: 18,597,679	I698N	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
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	intron	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
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

Posted On

2017-04-14