Mutagenetix > Incidental Mutations

Incidental Mutation 'R5881:Gm10436'

454440

Institutional Source

Beutler Lab

Gene Symbol

Gm10436

Ensembl Gene

ENSMUSG00000066027

Gene Name

predicted gene 10436

Synonyms

MMRRC Submission

044085-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88175589-88182108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88176341 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 169 (L169P)

Ref Sequence

ENSEMBL: ENSMUSP00000152292 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071580
AA Change: L364P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: L364P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000220521
AA Change: L169P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000221884

Predicted Effect

probably benign
Transcript: ENSMUST00000222081

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

probably benign
Transcript: ENSMUST00000222556

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Coding Region Coverage

1x: 99.9%
3x: 99.3%
10x: 94.5%
20x: 78.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	C	11: 95,834,387	L159W	probably damaging	Het
Abi3	A	T	11: 95,834,388	L159M	probably damaging	Het
Adam11	A	C	11: 102,773,810	I406L	probably benign	Het
Ager	G	T	17: 34,600,077	V300L	probably damaging	Het
Ank3	C	T	10: 69,986,830	S1726L	probably benign	Het
Boc	A	G	16: 44,490,651	I740T	probably damaging	Het
C8a	T	A	4: 104,853,932	D178V	probably damaging	Het
Ces3a	G	A	8: 105,050,566	V174M	probably damaging	Het
Cisd1	A	T	10: 71,336,414	W13R	probably damaging	Het
Commd8	A	T	5: 72,162,764	D111E	probably benign	Het
Ddx60	A	T	8: 62,037,070	D1691V	probably damaging	Het
Desi2	A	G	1: 178,237,913	Y15C	probably damaging	Het
Dnmt1	A	G	9: 20,952,717	V24A	probably damaging	Het
Dock10	G	A	1: 80,560,923	T968M	probably benign	Het
Dsel	A	T	1: 111,859,438	F1122L	probably damaging	Het
Eml3	T	C	19: 8,933,443	F220L	probably damaging	Het
Entpd2	A	C	2: 25,400,812	N443H	probably damaging	Het
Epgn	A	G	5: 91,028,363	N36S	probably benign	Het
Fsip2	G	T	2: 82,984,441	S3506I	possibly damaging	Het
Gprin3	T	C	6: 59,354,786	S179G	probably benign	Het
Grifin	G	T	5: 140,563,587	H125N	possibly damaging	Het
Hils1	A	G	11: 94,968,163	T95A	possibly damaging	Het
Hmcn1	A	G	1: 150,630,327	V3816A	probably damaging	Het
Hspa14	A	G	2: 3,498,170	F196L	probably benign	Het
Ice1	T	C	13: 70,606,501	K489E	probably benign	Het
Jmjd6	C	T	11: 116,839,856	W117*	probably null	Het
Lrit2	G	T	14: 37,072,235	A419S	probably benign	Het
Mc3r	T	C	2: 172,249,172	S105P	probably benign	Het
Mccc1	A	G	3: 35,964,382	V601A	probably benign	Het
Myo1f	A	G	17: 33,576,653	D91G	probably damaging	Het
Myo1f	G	A	17: 33,580,285	E255K	possibly damaging	Het
Necap1	T	A	6: 122,881,544	D115E	probably benign	Het
Olfr1271	A	T	2: 90,266,442		probably null	Het
Olfr65	T	A	7: 103,906,676	M79K	probably damaging	Het
Olfr725	G	A	14: 50,034,987	R139C	probably benign	Het
Papd4	A	T	13: 93,175,738	C180*	probably null	Het
Papln	A	G	12: 83,771,878	E78G	probably null	Het
Phldb3	T	C	7: 24,626,722		probably null	Het
Pkd1l2	A	G	8: 116,997,582	I2394T	probably damaging	Het
Ppa2	A	T	3: 133,330,439	N118I	probably damaging	Het
Ppef2	A	T	5: 92,250,529	C43*	probably null	Het
Rab27a	G	A	9: 73,085,039		probably null	Het
Rabgap1l	A	T	1: 160,342,113	F47I	probably damaging	Het
Rala	A	G	13: 17,893,161	I95T	probably damaging	Het
Rgl2	A	G	17: 33,932,717	D245G	probably benign	Het
Rnf34	A	T	5: 122,864,083	T35S	probably damaging	Het
Ros1	C	T	10: 52,181,798	R51Q	probably benign	Het
Samd9l	T	C	6: 3,372,716	D1515G	possibly damaging	Het
Scn7a	T	C	2: 66,675,526	E1673G	probably benign	Het
Slc6a20a	A	C	9: 123,641,708		probably null	Het
Tdrd5	A	T	1: 156,294,500	S280T	probably damaging	Het
Tie1	T	C	4: 118,475,603	I911V	possibly damaging	Het
Vipas39	G	A	12: 87,251,807	R194*	probably null	Het
Ybx3	A	C	6: 131,368,488	N307K	possibly damaging	Het
Ylpm1	A	T	12: 85,042,125	H1216L	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
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
R8113:Gm10436	UTSW	12	88177080	missense	probably benign	0.00
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'- GTGAGAACATTGGCTTAGGGC -3'
(R):5'- AAGGCTGTATCCTAGAATTGACC -3'

Sequencing Primer
(F):5'- TGGCTTAGGGCAGGCAG -3'
(R):5'- AGAAGTGCCATCTGCTTAGC -3'

Posted On

2017-02-10