Mutagenetix > Incidental Mutations

Incidental Mutation 'R4270:Gm10436'

322133

Institutional Source

Beutler Lab

Gene Symbol

Gm10436

Ensembl Gene

ENSMUSG00000066027

Gene Name

predicted gene 10436

Synonyms

MMRRC Submission

041075-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4270 (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: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	A	3: 88,982,040	C409S	probably benign	Het
Aspg	T	C	12: 112,121,195	S327P	probably damaging	Het
Ccdc88c	G	T	12: 100,947,219	Q516K	probably damaging	Het
Cdh11	T	A	8: 102,664,626	D326V	possibly damaging	Het
Ctsa	G	T	2: 164,835,302	M210I	probably benign	Het
Ctsh	A	G	9: 90,061,598	H92R	probably damaging	Het
Fanca	A	G	8: 123,268,794	L117P	probably damaging	Het
Foxo1	A	G	3: 52,345,405	T330A	probably benign	Het
Ighv1-43	C	G	12: 114,946,152	G50A	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Kif26a	C	T	12: 112,173,414	S460F	probably damaging	Het
Mxra8	C	A	4: 155,841,137	P98Q	probably damaging	Het
Nbr1	T	C	11: 101,567,222	Y276H	possibly damaging	Het
Nckap1l	T	C	15: 103,473,122	L430P	possibly damaging	Het
Nubp2	A	T	17: 24,885,593	C58S	probably damaging	Het
Olfr250	A	G	9: 38,367,701	N52D	probably damaging	Het
Rbms3	T	A	9: 117,056,748	N94I	probably damaging	Het
Rimbp2	T	G	5: 128,819,777	N23T	probably benign	Het
Rwdd3	T	C	3: 121,158,901	D147G	probably damaging	Het
Slc30a5	T	G	13: 100,829,013	R29S	probably benign	Het
Syt10	C	A	15: 89,790,892	R417L	probably benign	Het
Trim58	T	C	11: 58,651,267	V351A	probably damaging	Het
Trpc3	G	T	3: 36,662,925	Y321*	probably null	Het
Vmn2r107	G	T	17: 20,355,779	V124F	probably benign	Het
Xkr7	T	C	2: 153,054,315	V363A	possibly damaging	Het
Zfp597	A	T	16: 3,872,090	M1K	probably null	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
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'- AAGTCTTTGATCCATGGTTGGC -3'
(R):5'- GACTCTTTAGAAGAAGTCACAGAGG -3'

Sequencing Primer
(F):5'- CCATGGTTGGCTAAATATTCTCTG -3'
(R):5'- GAAGTCACAGAGGAATGCTATTC -3'

Posted On

2015-06-20