Mutagenetix > Incidental Mutations

Incidental Mutation 'R4271:Gm10436'

322182

Institutional Source

Beutler Lab

Gene Symbol

Gm10436

Ensembl Gene

ENSMUSG00000066027

Gene Name

predicted gene 10436

Synonyms

MMRRC Submission

041076-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88175589-88182108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88178283 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 91 (I91K)

Ref Sequence

ENSEMBL: ENSMUSP00000152194 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071580
AA Change: I99K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: I99K

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 damaging
Transcript: ENSMUST00000222081
AA Change: I91K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

unknown
Transcript: ENSMUST00000222556
AA Change: I90K

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	G	2: 104,026,204		probably benign	Het
Acp6	T	C	3: 97,166,618		probably null	Het
Actr6	T	A	10: 89,717,239	R252S	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Ash1l	T	A	3: 88,982,040	C409S	probably benign	Het
Aspg	T	C	12: 112,121,195	S327P	probably damaging	Het
B430203G13Rik	CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	12: 17,924,357		noncoding transcript	Het
BC067074	G	T	13: 113,342,370	V1483L	possibly damaging	Het
C1galt1	T	C	6: 7,866,607	F151S	probably damaging	Het
C1qtnf6	G	A	15: 78,525,266	T127I	probably benign	Het
Ccdc88c	G	T	12: 100,947,219	Q516K	probably damaging	Het
Cdh11	T	A	8: 102,664,626	D326V	possibly damaging	Het
Cecr2	C	T	6: 120,762,475	H1360Y	probably damaging	Het
Cfap70	T	C	14: 20,420,725	E484G	probably benign	Het
Chml	G	A	1: 175,687,794	T187M	probably benign	Het
Chpt1	C	T	10: 88,481,352		probably benign	Het
Cmtr1	T	C	17: 29,697,982	S618P	probably benign	Het
Cyfip1	A	T	7: 55,879,101	M244L	probably benign	Het
Dock1	T	C	7: 134,734,054	I59T	probably damaging	Het
Duox1	T	C	2: 122,324,375	F414L	probably damaging	Het
Gm1110	A	T	9: 26,895,648		probably null	Het
Gsap	T	C	5: 21,226,350		probably null	Het
H2-T3	T	C	17: 36,189,618	Y111C	probably damaging	Het
Hectd4	AGCGGCGGCGGCGGCGGCGGCGG	AGCGGCGGCGGCGGCGGCGG	5: 121,220,504		probably benign	Het
Kif12	T	C	4: 63,170,746	Q146R	probably benign	Het
Kif26a	C	T	12: 112,173,414	S460F	probably damaging	Het
Klhl15	AG	A	X: 94,253,112		probably null	Het
Lims1	T	C	10: 58,410,204		probably null	Het
Nbr1	T	C	11: 101,567,222	Y276H	possibly damaging	Het
Nfe2l3	A	G	6: 51,456,634	D242G	probably damaging	Het
Oacyl	T	A	18: 65,737,967	L340Q	probably damaging	Het
Olfr508	T	A	7: 108,630,353	Y120*	probably null	Het
Olfr733	A	T	14: 50,298,451	I286N	probably damaging	Het
Osbpl5	G	T	7: 143,695,602	Y543*	probably null	Het
Polr1a	G	A	6: 71,953,022	E898K	probably benign	Het
Rad54l2	G	A	9: 106,693,626	A1165V	probably benign	Het
Rimbp2	T	G	5: 128,819,777	N23T	probably benign	Het
Scp2	T	C	4: 108,085,211	D306G	probably damaging	Het
Slco4a1	A	G	2: 180,474,210	D713G	possibly damaging	Het
Smarca2	T	A	19: 26,720,949		probably null	Het
Spem2	T	C	11: 69,817,425	Y238C	probably damaging	Het
Srpk2	T	A	5: 23,548,515	H80L	possibly damaging	Het
Tmem161a	T	C	8: 70,181,512	L365P	probably damaging	Het
Tsnax	T	C	8: 125,032,729	L243P	probably damaging	Het
Ttn	A	G	2: 76,901,635		probably benign	Het
V1rd19	A	G	7: 24,003,414	T102A	probably benign	Het
Vmn2r94	T	C	17: 18,243,678	I783M	probably damaging	Het
Zeb1	C	A	18: 5,758,985	Q148K	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
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'- GGCTAAATATTCTCTGTCTCTAGTTGC -3'
(R):5'- ACCTGCTTCCCTAGGATGAC -3'

Sequencing Primer
(F):5'- TGCTTCTTCTCAGCACTCAGAAAAC -3'
(R):5'- GCTTCCCTAGGATGACTCTTTAGAAG -3'

Posted On

2015-06-20