Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02031:Gm8267'

184377

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm8267

Ensembl Gene

ENSMUSG00000091923

Gene Name

predicted gene 8267

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL02031

Quality Score

Status

Chromosome

Chromosomal Location

44954624-44962444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44955374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 155 (D155G)

Ref Sequence

ENSEMBL: ENSMUSP00000129402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165003] [ENSMUST00000169062] [ENSMUST00000226900]

AlphaFold

E9Q207

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165003
AA Change: T216A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129187
Gene: ENSMUSG00000091923
AA Change: T216A

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	1.4e-28	PFAM
coiled coil region	144	175	N/A	INTRINSIC
transmembrane domain	238	260	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169062
AA Change: D155G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129402
Gene: ENSMUSG00000091923
AA Change: D155G

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	4.9e-37	PFAM
low complexity region	187	199	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226900
AA Change: T216A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,921,028 (GRCm39)		probably benign	Het
Akap11	T	C	14: 78,751,253 (GRCm39)	D378G	possibly damaging	Het
Ankrd33b	A	T	15: 31,325,329 (GRCm39)	F129L	probably damaging	Het
Apob	A	G	12: 8,065,222 (GRCm39)	K4064E	probably benign	Het
Arhgef10l	T	C	4: 140,302,656 (GRCm39)	D506G	probably damaging	Het
Arid4b	A	C	13: 14,327,997 (GRCm39)		probably benign	Het
Ccdc88c	A	T	12: 100,899,570 (GRCm39)	Y1263N	probably damaging	Het
Ckap5	T	C	2: 91,443,117 (GRCm39)	L1697P	possibly damaging	Het
Cplane1	T	C	15: 8,209,253 (GRCm39)	F230S	probably damaging	Het
Cpxm1	C	T	2: 130,235,601 (GRCm39)	V464M	probably damaging	Het
Dhrs7c	A	G	11: 67,706,715 (GRCm39)	E291G	probably benign	Het
Dst	C	A	1: 34,228,998 (GRCm39)	P1872H	possibly damaging	Het
G6pc2	G	A	2: 69,053,335 (GRCm39)	A130T	probably benign	Het
Gm4847	A	G	1: 166,462,578 (GRCm39)	V304A	probably damaging	Het
Kank1	G	A	19: 25,388,066 (GRCm39)	V580I	probably benign	Het
Kcnh4	A	G	11: 100,636,649 (GRCm39)	S757P	probably damaging	Het
Krt34	C	A	11: 99,929,849 (GRCm39)	A216S	possibly damaging	Het
Mfhas1	A	T	8: 36,056,526 (GRCm39)	I334F	probably damaging	Het
Mrgprb8	A	G	7: 48,039,087 (GRCm39)	M253V	probably benign	Het
Or52n4b	A	T	7: 108,144,137 (GRCm39)	H133L	probably benign	Het
Pp2d1	T	A	17: 53,815,468 (GRCm39)	T419S	probably damaging	Het
Pprc1	T	A	19: 46,060,782 (GRCm39)		probably benign	Het
Reln	A	G	5: 22,184,014 (GRCm39)	S1662P	probably damaging	Het
Sema7a	G	A	9: 57,862,423 (GRCm39)	E209K	possibly damaging	Het
Serinc2	C	T	4: 130,158,237 (GRCm39)	W15*	probably null	Het
Serpina3k	A	G	12: 104,311,525 (GRCm39)	T368A	probably benign	Het
Setd3	A	T	12: 108,129,289 (GRCm39)	W54R	probably damaging	Het
Slc9c1	G	A	16: 45,419,833 (GRCm39)	S1001N	probably benign	Het
Snapc3	A	G	4: 83,336,213 (GRCm39)	D75G	probably benign	Het
Spata31e2	A	G	1: 26,724,104 (GRCm39)	Y359H	probably damaging	Het
Stard9	T	C	2: 120,532,820 (GRCm39)	S333P	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het

Other mutations in Gm8267

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Gm8267	APN	14	44,962,412 (GRCm39)	missense	probably damaging	0.98
R3619:Gm8267	UTSW	14	44,961,513 (GRCm39)	missense	possibly damaging	0.95
R4715:Gm8267	UTSW	14	44,955,292 (GRCm39)	missense	probably benign	0.33
R6599:Gm8267	UTSW	14	44,955,367 (GRCm39)	missense	possibly damaging	0.86
R7001:Gm8267	UTSW	14	44,960,385 (GRCm39)	missense	possibly damaging	0.94
R7057:Gm8267	UTSW	14	44,959,481 (GRCm39)	missense	probably damaging	0.99
R7439:Gm8267	UTSW	14	44,960,397 (GRCm39)	missense	probably damaging	1.00
R7441:Gm8267	UTSW	14	44,960,397 (GRCm39)	missense	probably damaging	1.00
R8053:Gm8267	UTSW	14	44,962,307 (GRCm39)	missense	possibly damaging	0.82
R8313:Gm8267	UTSW	14	44,961,515 (GRCm39)	missense	probably damaging	0.97
R8721:Gm8267	UTSW	14	44,959,507 (GRCm39)	missense	possibly damaging	0.94
R9150:Gm8267	UTSW	14	44,955,362 (GRCm39)	missense	probably benign	0.18
R9464:Gm8267	UTSW	14	44,960,346 (GRCm39)	missense	probably damaging	0.99
Z1088:Gm8267	UTSW	14	44,962,322 (GRCm39)	missense	probably benign	0.28

Posted On

2014-05-07