Mutagenetix > Incidental Mutations

Incidental Mutation 'R8113:Gm10436'

631020

Institutional Source

Beutler Lab

Gene Symbol

Gm10436

Ensembl Gene

ENSMUSG00000066027

Gene Name

predicted gene 10436

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R8113 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88175589-88182108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88177080 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 329 (Y329C)

Ref Sequence

ENSEMBL: ENSMUSP00000071508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071580] [ENSMUST00000220521] [ENSMUST00000222081] [ENSMUST00000223172]

Predicted Effect

probably benign
Transcript: ENSMUST00000071580
AA Change: Y329C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: Y329C

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	247	445	5e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220521
AA Change: Y134C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000221884

Predicted Effect

probably benign
Transcript: ENSMUST00000222081
AA Change: Y321C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

probably benign
Transcript: ENSMUST00000222556

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (72/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 88,321,803	S625P	probably damaging	Het
Agpat1	T	C	17: 34,611,612	V170A	probably damaging	Het
Alg9	C	T	9: 50,808,780	Q519*	probably null	Het
Apol8	C	T	15: 77,750,136	R80H	probably benign	Het
Arhgap25	G	T	6: 87,488,305	S118*	probably null	Het
Arhgap30	T	A	1: 171,397,518	Y47*	probably null	Het
Arhgap42	C	T	9: 9,011,433	D451N	probably damaging	Het
Cabp2	T	A	19: 4,085,582	F91I	probably damaging	Het
Ccdc30	T	C	4: 119,373,746	E108G	probably benign	Het
Cfap99	T	C	5: 34,301,419	S53P	probably damaging	Het
Clec5a	C	T	6: 40,579,427	R135H	possibly damaging	Het
Cops8	T	G	1: 90,603,603	D18E	probably benign	Het
Cped1	A	T	6: 22,233,481	M779L	possibly damaging	Het
Cyp4x1	G	A	4: 115,110,066	H438Y	probably damaging	Het
Disc1	A	T	8: 125,088,275	T293S	probably benign	Het
Ercc1	T	C	7: 19,350,177	L113S	probably damaging	Het
Ermp1	G	T	19: 29,615,796	N765K	probably benign	Het
Fam83c	A	G	2: 155,834,820	I10T	probably benign	Het
Farp1	T	C	14: 121,275,596	V788A	probably benign	Het
Fbn1	C	G	2: 125,477,569	G92R	probably damaging	Het
Fsd1	T	A	17: 55,995,881	M328K	probably benign	Het
Fzd3	C	A	14: 65,202,813	S636I	probably benign	Het
Gapvd1	A	G	2: 34,704,318	S886P	probably damaging	Het
Gatad2b	T	A	3: 90,341,722	D22E	probably benign	Het
Gm30302	G	A	13: 49,786,072	R721C	probably benign	Het
Gm7168	A	T	17: 13,948,976	K202*	probably null	Het
Gmps	T	C	3: 63,980,269	I54T	probably damaging	Het
Gp6	A	G	7: 4,394,115	I107T	probably benign	Het
Gpat2	T	C	2: 127,431,347	V217A	possibly damaging	Het
Hdlbp	T	A	1: 93,417,195	I863F	probably damaging	Het
Hmcn1	A	C	1: 150,749,090	I1021M	possibly damaging	Het
Igkv6-14	C	T	6: 70,435,103	A66T	probably benign	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Iqch	A	G	9: 63,454,573	I925T	probably benign	Het
Kcnt1	A	G	2: 25,901,211	E522G	possibly damaging	Het
Kremen2	C	G	17: 23,743,802	E103D	probably damaging	Het
Lig4	G	T	8: 9,973,485	N98K	probably benign	Het
Lrrc3b	T	G	14: 15,358,232	I125L	probably benign	Het
Lrrc4	T	C	6: 28,829,903	D148G	probably damaging	Het
Lrsam1	A	G	2: 32,947,889	Y218H	possibly damaging	Het
Mmrn2	G	A	14: 34,397,636	V191I	probably benign	Het
Nadk	T	A	4: 155,570,670		probably null	Het
Napb	C	A	2: 148,709,431	A61S	possibly damaging	Het
Ncan	T	A	8: 70,108,571	D582V	possibly damaging	Het
Ncl	T	C	1: 86,356,642	D244G	possibly damaging	Het
Nlrp14	A	G	7: 107,192,508	N800S	possibly damaging	Het
Nlrp9b	C	T	7: 20,019,335	T55M	probably benign	Het
Nobox	G	A	6: 43,306,017	T228I	probably benign	Het
Npffr1	C	A	10: 61,613,971	P8H	possibly damaging	Het
Nrg2	T	C	18: 36,021,103	Y587C	probably damaging	Het
Nsd1	T	G	13: 55,245,621	V448G	probably benign	Het
Olfr1016	A	G	2: 85,799,667	L201P	probably damaging	Het
Olfr228	T	G	2: 86,483,068	I225L	probably damaging	Het
Olfr263	T	A	13: 21,133,201	V142D	probably benign	Het
Olfr513	G	T	7: 108,755,231	C125F	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Ppp5c	T	C	7: 17,009,007	T229A	probably benign	Het
Prr5	C	T	15: 84,693,792	R101C	probably damaging	Het
Psg22	T	C	7: 18,723,062	M290T	probably benign	Het
Pzp	C	T	6: 128,513,731		probably null	Het
Rapgef6	T	C	11: 54,625,958	V347A	probably benign	Het
Rttn	A	T	18: 89,010,916	H586L	probably damaging	Het
Sema3f	A	T	9: 107,688,076	I259K	possibly damaging	Het
Sgpp1	A	T	12: 75,716,600	L269Q	probably damaging	Het
Slc22a8	A	C	19: 8,605,539	I195L	probably benign	Het
Slc35a5	T	C	16: 45,142,188	T425A	unknown	Het
Stard13	G	A	5: 151,063,505	T180I	probably damaging	Het
Stard9	G	A	2: 120,704,430	G3723S	probably benign	Het
Svil	A	T	18: 5,062,385	T902S	probably damaging	Het
Tnfaip8l3	T	A	9: 54,027,137	R185W	probably damaging	Het
Ttn	A	T	2: 76,760,049	D21105E	probably benign	Het
Vmn2r109	T	A	17: 20,554,467	M209L	probably benign	Het
Vmn2r125	A	G	4: 156,351,347	H340R	probably damaging	Het
Zfp946	T	C	17: 22,455,500	C412R	probably damaging	Het

Other mutations in Gm10436

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Gm10436	APN	12	88177112	missense	probably benign	0.35
IGL01391:Gm10436	APN	12	88178455	missense	possibly damaging	0.84
IGL01432:Gm10436	APN	12	88176432	missense	probably benign	0.44
IGL01519:Gm10436	APN	12	88177561	missense	probably benign	0.00
IGL01784:Gm10436	APN	12	88176315	missense	probably benign
IGL02121:Gm10436	APN	12	88178472	missense	possibly damaging	0.83
IGL02728:Gm10436	APN	12	88176022	missense	probably benign	0.17
R0336:Gm10436	UTSW	12	88178191	missense	probably benign	0.20
R0554:Gm10436	UTSW	12	88177558	missense	probably benign	0.10
R1279:Gm10436	UTSW	12	88175880	missense	probably benign	0.42
R1832:Gm10436	UTSW	12	88178448	missense	possibly damaging	0.73
R1833:Gm10436	UTSW	12	88178448	missense	possibly damaging	0.73
R1900:Gm10436	UTSW	12	88177260	missense	probably benign	0.02
R2412:Gm10436	UTSW	12	88177110	missense	probably damaging	0.98
R3040:Gm10436	UTSW	12	88178348	missense	probably benign	0.00
R3625:Gm10436	UTSW	12	88175961	missense	probably benign	0.06
R4078:Gm10436	UTSW	12	88175913	missense	probably benign	0.38
R4270:Gm10436	UTSW	12	88178283	missense	probably damaging	1.00
R4271:Gm10436	UTSW	12	88178283	missense	probably damaging	1.00
R5318:Gm10436	UTSW	12	88176228	missense	probably benign	0.01
R5552:Gm10436	UTSW	12	88178365	missense	probably benign	0.03
R5601:Gm10436	UTSW	12	88176047	missense	probably damaging	1.00
R5881:Gm10436	UTSW	12	88176341	missense	probably damaging	1.00
R5973:Gm10436	UTSW	12	88175913	missense	probably benign	0.02
R6058:Gm10436	UTSW	12	88177225	missense	possibly damaging	0.91
R6488:Gm10436	UTSW	12	88177587	missense	possibly damaging	0.87
R6656:Gm10436	UTSW	12	88175993	missense	possibly damaging	0.89
R7307:Gm10436	UTSW	12	88181749	missense	probably damaging	1.00
R7332:Gm10436	UTSW	12	88176417	missense	possibly damaging	0.72
R7544:Gm10436	UTSW	12	88176080	missense	probably benign	0.00
R7569:Gm10436	UTSW	12	88176315	missense	probably benign
R7645:Gm10436	UTSW	12	88176258	missense	probably damaging	1.00
R7752:Gm10436	UTSW	12	88175999	missense	probably damaging	1.00
R7855:Gm10436	UTSW	12	88176083	missense	probably benign	0.03
R7860:Gm10436	UTSW	12	88176352	missense	possibly damaging	0.89
R8356:Gm10436	UTSW	12	88177216	missense	probably benign	0.01
R8456:Gm10436	UTSW	12	88177216	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAATAAGAGGCATGCTCATG -3'
(R):5'- ATCCCTACCTGAAACTGATGAAAAG -3'

Sequencing Primer
(F):5'- ATGCCTCATCATACATATCTTAGCAC -3'
(R):5'- AAGTCTTTTCACACTCACACTAGATC -3'

Posted On

2020-06-30