Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01287:Gm8257'

72760

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm8257

Ensembl Gene

ENSMUSG00000079265

Gene Name

predicted pseudogene 8257

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL01287

Quality Score

Status

Chromosome

Chromosomal Location

44886989-44894814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44892800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 67 (F67I)

Ref Sequence

ENSEMBL: ENSMUSP00000107491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111860] [ENSMUST00000169583] [ENSMUST00000179215]

AlphaFold

E9Q8R3

Predicted Effect

probably damaging
Transcript: ENSMUST00000111860
AA Change: F67I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107491
Gene: ENSMUSG00000079265
AA Change: F67I

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	93	6.4e-35	PFAM
coiled coil region	108	141	N/A	INTRINSIC
transmembrane domain	201	223	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169583
AA Change: F103I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128723
Gene: ENSMUSG00000079265
AA Change: F103I

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	3.5e-27	PFAM
coiled coil region	144	177	N/A	INTRINSIC
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179215
AA Change: F68I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136936
Gene: ENSMUSG00000079265
AA Change: F68I

Domain	Start	End	E-Value	Type
Pfam:Takusan	11	94	8.9e-36	PFAM
coiled coil region	109	142	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,040 (GRCm39)	K445E	probably damaging	Het
Abca15	A	T	7: 119,932,081 (GRCm39)		probably benign	Het
Acsbg3	C	T	17: 57,189,203 (GRCm39)	Q204*	probably null	Het
Acvr1c	A	T	2: 58,170,254 (GRCm39)	C371*	probably null	Het
Brs3	T	C	X: 56,092,727 (GRCm39)		probably benign	Het
Car14	C	T	3: 95,806,871 (GRCm39)	V198M	possibly damaging	Het
Cenpc1	G	A	5: 86,170,313 (GRCm39)	R704*	probably null	Het
Crybg1	C	T	10: 43,868,490 (GRCm39)	R1396H	possibly damaging	Het
Cubn	A	G	2: 13,315,377 (GRCm39)	S3019P	probably damaging	Het
Cyp2j9	T	C	4: 96,471,665 (GRCm39)	E222G	probably benign	Het
Defb50	C	A	8: 22,321,187 (GRCm39)	T59K	probably benign	Het
Dlg3	T	C	X: 99,850,848 (GRCm39)	I587T	possibly damaging	Het
Doc2a	C	T	7: 126,450,173 (GRCm39)	R204C	probably damaging	Het
Galc	T	C	12: 98,212,503 (GRCm39)		probably benign	Het
Hnrnpul1	A	T	7: 25,426,323 (GRCm39)	N509K	probably damaging	Het
Iars2	T	A	1: 185,028,625 (GRCm39)	I678F	possibly damaging	Het
Ifit1	A	G	19: 34,625,533 (GRCm39)	E223G	possibly damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Lrp4	C	A	2: 91,304,293 (GRCm39)	D157E	probably damaging	Het
Ltk	T	A	2: 119,586,186 (GRCm39)	T21S	probably benign	Het
Lvrn	A	T	18: 46,997,733 (GRCm39)		probably benign	Het
Maob	G	A	X: 16,578,881 (GRCm39)	A424V	probably damaging	Het
Myo1g	C	A	11: 6,465,856 (GRCm39)	V410F	possibly damaging	Het
Myorg	T	A	4: 41,498,923 (GRCm39)	I236F	possibly damaging	Het
Naxe	T	C	3: 87,963,981 (GRCm39)	H250R	probably damaging	Het
Nek5	T	C	8: 22,601,199 (GRCm39)	N174S	possibly damaging	Het
Or2y3	G	T	17: 38,392,998 (GRCm39)	N290K	probably damaging	Het
Or51l14	C	T	7: 103,101,002 (GRCm39)	R153W	probably damaging	Het
Or9m2	A	G	2: 87,821,288 (GRCm39)	T278A	probably benign	Het
Pex1	A	G	5: 3,656,027 (GRCm39)	T285A	probably benign	Het
Pfas	A	G	11: 68,892,086 (GRCm39)	S141P	probably benign	Het
Pmm1	T	C	15: 81,839,945 (GRCm39)	T127A	probably damaging	Het
Proc	C	A	18: 32,256,873 (GRCm39)		probably benign	Het
Ranbp9	T	C	13: 43,633,980 (GRCm39)	E142G	probably damaging	Het
Recql4	C	A	15: 76,594,112 (GRCm39)		probably benign	Het
Robo4	C	T	9: 37,324,336 (GRCm39)	P955S	possibly damaging	Het
Ryr3	T	A	2: 112,539,418 (GRCm39)	N3274I	probably damaging	Het
Serpinb10	T	C	1: 107,468,612 (GRCm39)		probably benign	Het
Slc9c1	A	T	16: 45,404,811 (GRCm39)	K848*	probably null	Het
Slfn5	A	G	11: 82,847,807 (GRCm39)	T231A	probably damaging	Het
Syncrip	T	C	9: 88,338,660 (GRCm39)		probably benign	Het
Syt16	A	T	12: 74,313,513 (GRCm39)	T480S	probably damaging	Het
Taf1c	G	A	8: 120,327,931 (GRCm39)	T293M	probably benign	Het
Tbc1d5	T	C	17: 51,120,826 (GRCm39)	D430G	possibly damaging	Het
Tbx18	T	C	9: 87,606,384 (GRCm39)	T254A	probably damaging	Het
Tpm1	C	T	9: 66,943,337 (GRCm39)	R105H	probably damaging	Het
Usp17la	T	C	7: 104,510,522 (GRCm39)	S376P	probably benign	Het
Vmn1r19	A	G	6: 57,382,179 (GRCm39)	D244G	probably damaging	Het
Vmn1r58	A	T	7: 5,414,054 (GRCm39)	F59I	probably benign	Het
Vmn2r45	A	T	7: 8,488,622 (GRCm39)	M136K	probably benign	Het
Vmn2r70	T	A	7: 85,218,227 (GRCm39)	R24*	probably null	Het
Vmn2r75	T	A	7: 85,797,801 (GRCm39)	I671F	probably damaging	Het

Other mutations in Gm8257

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02616:Gm8257	APN	14	44,892,683 (GRCm39)	missense	probably damaging	1.00
R4602:Gm8257	UTSW	14	44,893,774 (GRCm39)	missense	probably damaging	1.00
R5678:Gm8257	UTSW	14	44,894,706 (GRCm39)	missense	probably damaging	1.00
R7264:Gm8257	UTSW	14	44,893,817 (GRCm39)	missense	probably damaging	1.00
R7374:Gm8257	UTSW	14	44,887,740 (GRCm39)	missense	probably benign	0.00
R7868:Gm8257	UTSW	14	44,894,754 (GRCm39)	missense	probably damaging	1.00
R8182:Gm8257	UTSW	14	44,887,623 (GRCm39)	missense	probably benign	0.38
R8944:Gm8257	UTSW	14	44,893,849 (GRCm39)	missense	probably damaging	1.00
R9036:Gm8257	UTSW	14	44,893,877 (GRCm39)	missense	probably benign	0.07

Posted On

2013-10-07