Mutagenetix > Incidental Mutations

Incidental Mutation 'R1279:Gm10436'

150982

Institutional Source

Beutler Lab

Gene Symbol

Gm10436

Ensembl Gene

ENSMUSG00000066027

Gene Name

predicted gene 10436

Synonyms

MMRRC Submission

039345-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1279 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88175589-88182108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88175880 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 323 (V323M)

Ref Sequence

ENSEMBL: ENSMUSP00000152292 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071580
AA Change: V518M

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: V518M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220521
AA Change: V323M

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Atp6v0d2	A	T	4: 19,878,298	M325K	probably benign	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm17305	TCTCCTCCTCCTCCTCCTCCTC	TCTCCTCCTCCTCCTCCTC	11: 69,369,349		probably benign	Het
Mfap5	A	G	6: 122,526,763		probably null	Het
Nrcam	T	C	12: 44,544,877		probably null	Het
Oas1a	A	G	5: 120,897,178		probably null	Het
Oat	A	T	7: 132,567,080	L137H	probably damaging	Het
Olfr135	A	G	17: 38,208,787	I181V	probably benign	Het
Olfr1564	T	C	17: 33,216,326	Y6C	possibly damaging	Het
Olfr183	G	A	16: 59,000,138	G151D	possibly damaging	Het
Padi3	T	C	4: 140,803,577	S45G	probably benign	Het
Pias1	A	G	9: 62,892,145	S488P	probably damaging	Het
Plxnb2	G	A	15: 89,162,321	T873I	probably benign	Het
Ppp4r2	A	T	6: 100,865,918	R176*	probably null	Het
Prkdc	A	T	16: 15,690,282	L932F	probably damaging	Het
Ros1	C	A	10: 52,142,166	A799S	possibly damaging	Het
Scn4a	A	T	11: 106,335,682	I684N	probably damaging	Het
Sypl2	A	G	3: 108,217,674	F124L	probably damaging	Het
Tacr1	G	T	6: 82,557,183	E397*	probably null	Het
Uhrf1bp1	T	C	17: 27,890,071	F1088S	possibly damaging	Het
Vmn1r7	T	C	6: 57,024,949	T109A	possibly damaging	Het
Zp1	A	G	19: 10,918,577	S232P	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
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
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'- TGGGCCAGTCTCATAAAATGGTGC -3'
(R):5'- CCCTAAGCCAATGTTCTCACCTCAG -3'

Sequencing Primer
(F):5'- GCTTGATTCTTTCTACAGATGCAAC -3'
(R):5'- GCCCCTATAGAGTGCTATGATGAC -3'

Posted On

2014-01-29