Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00421:Gm10436'

5966

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10436

Ensembl Gene

ENSMUSG00000066027

Gene Name

predicted gene 10436

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

IGL00421

Quality Score

Status

Chromosome

Chromosomal Location

88175589-88182108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88177112 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 310 (D310E)

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: D318E

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: D318E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220521
AA Change: D123E

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000221884

Predicted Effect

probably benign
Transcript: ENSMUST00000222081
AA Change: D310E

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

probably benign
Transcript: ENSMUST00000222556

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	T	C	17: 32,317,280	Y53C	probably damaging	Het
Ampd3	C	T	7: 110,803,147	R453C	probably benign	Het
Apob	A	C	12: 8,010,197	D2860A	probably damaging	Het
Arhgef1	C	A	7: 24,908,359	R52S	possibly damaging	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Cacna1i	A	T	15: 80,382,019	D1569V	probably damaging	Het
Clic6	A	T	16: 92,499,308	E285D	probably damaging	Het
Dok5	T	G	2: 170,829,956		probably null	Het
Gpr89	A	G	3: 96,898,523	F24S	probably damaging	Het
Grsf1	T	C	5: 88,670,278	D84G	probably damaging	Het
Kif27	T	C	13: 58,343,889	K479E	probably damaging	Het
Mx2	A	T	16: 97,544,478	N32I	probably damaging	Het
Myo16	G	T	8: 10,438,889	V687F	probably damaging	Het
Nlrp3	A	G	11: 59,565,943	D977G	probably damaging	Het
Nol6	A	T	4: 41,123,374	V97E	possibly damaging	Het
Pcdh15	T	A	10: 74,185,345	Y130*	probably null	Het
Pnpla7	T	A	2: 24,976,315		probably null	Het
Prcc	A	T	3: 87,872,208		probably null	Het
Sbf2	A	C	7: 110,375,832		probably benign	Het
Secisbp2l	C	A	2: 125,743,856	V859F	probably damaging	Het
Sptbn2	C	A	19: 4,724,705	Q129K	possibly damaging	Het
Srrm2	G	A	17: 23,812,478	S295N	probably benign	Het
Tacr3	A	C	3: 134,854,821	I174L	probably benign	Het
Tchp	A	C	5: 114,708,733	D27A	probably benign	Het
Usp31	A	T	7: 121,648,650	V1190D	probably damaging	Het
Zfp462	A	G	4: 55,023,576	T2122A	probably benign	Het

Other mutations in Gm10436

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20