Mutagenetix > Incidental Mutations

Incidental Mutation 'R0336:Gm10436'

34138

Institutional Source

Beutler Lab

Gene Symbol

Gm10436

Ensembl Gene

ENSMUSG00000066027

Gene Name

predicted gene 10436

Synonyms

MMRRC Submission

038545-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R0336 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

88175589-88182108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88178191 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 122 (I122V)

Ref Sequence

ENSEMBL: ENSMUSP00000152194 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071580
AA Change: I130V

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: I130V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220521

Predicted Effect

probably benign
Transcript: ENSMUST00000221884

Predicted Effect

probably benign
Transcript: ENSMUST00000222081
AA Change: I122V

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

unknown
Transcript: ENSMUST00000222556
AA Change: I121V

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.1%
20x: 97.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,298,481	I2743V	probably benign	Het
Adamts16	A	G	13: 70,791,794		probably benign	Het
Adgrb1	A	G	15: 74,587,149	I427V	probably benign	Het
Apopt1	T	C	12: 111,733,658		probably benign	Het
Arhgef1	T	A	7: 24,921,957	F510I	possibly damaging	Het
B3glct	A	G	5: 149,746,592	D342G	probably damaging	Het
Bcl2a1c	G	T	9: 114,330,285	V44F	probably damaging	Het
Brca1	A	G	11: 101,523,993	V1105A	probably benign	Het
Cep135	A	G	5: 76,601,502	H272R	probably benign	Het
Cog1	A	C	11: 113,662,250	H365P	probably benign	Het
Col12a1	A	T	9: 79,702,345	L293Q	probably damaging	Het
Col18a1	A	G	10: 77,058,736	L1493P	probably damaging	Het
Ctsh	A	G	9: 90,075,738	Y290C	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Defb39	G	T	8: 19,052,969	H37N	possibly damaging	Het
Epha3	A	G	16: 63,566,648	I875T	probably damaging	Het
Fbrsl1	A	G	5: 110,447,951	S73P	probably damaging	Het
Fga	T	C	3: 83,030,857	S180P	probably damaging	Het
Fndc1	C	T	17: 7,765,107	R1329Q	unknown	Het
Fyn	C	A	10: 39,526,901	T223K	possibly damaging	Het
Galnt6	A	T	15: 100,699,206	S360T	probably damaging	Het
Grsf1	C	A	5: 88,663,153	V336F	probably damaging	Het
Hip1	A	T	5: 135,428,613	Y720N	probably benign	Het
Hivep3	G	A	4: 120,103,847	E1700K	probably damaging	Het
Ifna6	T	C	4: 88,827,941	S176P	probably damaging	Het
Lilr4b	T	A	10: 51,481,293	L75Q	probably benign	Het
Lrig3	C	T	10: 125,966,705	T77I	probably benign	Het
Mpped1	C	T	15: 83,836,282	P135L	probably damaging	Het
Mss51	T	A	14: 20,483,186	I406F	possibly damaging	Het
Mybpc2	T	C	7: 44,505,616	N956D	probably damaging	Het
Olfr1197	T	C	2: 88,729,154	I148M	possibly damaging	Het
Podxl2	G	A	6: 88,849,595	T243I	probably benign	Het
Polr2a	C	T	11: 69,736,893	R1396Q	possibly damaging	Het
Pygm	C	T	19: 6,388,758	R205W	probably damaging	Het
Rfx3	A	G	19: 27,806,262	M428T	probably benign	Het
Ric1	A	T	19: 29,587,793	T647S	probably damaging	Het
Rictor	G	A	15: 6,776,753		probably null	Het
Rnf38	A	T	4: 44,152,350		probably benign	Het
Slc6a21	T	A	7: 45,286,468	I41K	probably damaging	Het
St8sia4	T	A	1: 95,653,558	D153V	probably benign	Het
Stk33	T	C	7: 109,331,474	N226S	probably benign	Het
Strn3	A	G	12: 51,661,608		probably null	Het
Tlr6	G	T	5: 64,953,946	N539K	probably benign	Het
Tmem129	G	T	5: 33,655,602	P134Q	probably damaging	Het
Tmem94	A	G	11: 115,787,385	I145V	probably benign	Het
Trap1	A	C	16: 4,044,626	V596G	probably damaging	Het
Tspan2	A	G	3: 102,735,027	I11V	probably null	Het
Ttc23	A	T	7: 67,662,483	H46L	probably benign	Het
Txnip	T	A	3: 96,559,979	D292E	probably benign	Het
Vmn1r121	T	A	7: 21,098,462	I18F	possibly damaging	Het
Vmn1r61	G	A	7: 5,611,067	H83Y	probably benign	Het
Vmn1r82	T	C	7: 12,305,321	S174P	probably benign	Het
Vmn2r79	A	C	7: 87,002,079	T229P	probably benign	Het
Vps13b	T	G	15: 35,455,133	Y729*	probably null	Het
Wisp2	C	A	2: 163,832,322	A214D	probably damaging	Het
Xdh	C	T	17: 73,922,463	V332M	possibly damaging	Het
Xkr5	C	A	8: 18,940,636	R205L	possibly damaging	Het
Zc3h4	T	C	7: 16,435,178	S1071P	unknown	Het
Zc3h6	A	G	2: 129,015,412	H617R	possibly damaging	Het
Zfp597	A	G	16: 3,866,379	V171A	probably benign	Het
Zfp709	T	C	8: 71,890,605	F626S	probably damaging	Het
Zfp944	C	A	17: 22,339,028	D413Y	probably damaging	Het
Zfp979	A	C	4: 147,613,135	S372R	possibly 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
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
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'- GAGCTGAGACAGAGCTTAAACCCC -3'
(R):5'- GTCACAGAGGAATGCTATTCCCCAC -3'

Sequencing Primer
(F):5'- GCTTCTATACCCAGTGAAGAACAATG -3'
(R):5'- ACCTGGCAATTCAGAGTCTACTG -3'

Posted On

2013-05-09