Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02895:Gm12695'

363380

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm12695

Ensembl Gene

ENSMUSG00000078639

Gene Name

predicted gene 12695

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02895

Quality Score

Status

Chromosome

Chromosomal Location

96723647-96785186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96723949 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 526 (R526G)

Ref Sequence

ENSEMBL: ENSMUSP00000102686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107071]

Predicted Effect

probably damaging
Transcript: ENSMUST00000107071
AA Change: R526G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102686
Gene: ENSMUSG00000078639
AA Change: R526G

Domain	Start	End	E-Value	Type
low complexity region	226	237	N/A	INTRINSIC
low complexity region	360	371	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,232,107		probably benign	Het
Ahctf1	C	T	1: 179,793,811	E130K	probably damaging	Het
Atf7ip	C	A	6: 136,560,688	S306R	probably damaging	Het
Cpd	A	G	11: 76,785,203	V1208A	probably benign	Het
Ctsl	C	T	13: 64,366,512	A195T	probably damaging	Het
Dennd2c	T	C	3: 103,137,203	Y367H	possibly damaging	Het
Endod1	T	A	9: 14,356,870	T440S	probably benign	Het
Ighv1-39	T	C	12: 114,914,682	T90A	probably damaging	Het
Kdm2a	G	A	19: 4,362,902	R19C	probably damaging	Het
Klra1	C	T	6: 130,375,240	E180K	possibly damaging	Het
Odam	A	G	5: 87,885,864	Q21R	probably benign	Het
Olfr1205	A	G	2: 88,831,642	Y175C	probably damaging	Het
Olfr145	G	A	9: 37,897,982	V193I	probably benign	Het
Plk1	A	G	7: 122,169,166	E504G	possibly damaging	Het
Rtl3	T	C	X: 106,839,544	I37M	possibly damaging	Het
Srebf2	A	G	15: 82,147,467	E22G	possibly damaging	Het
Tmem74b	A	G	2: 151,706,391	S13G	probably benign	Het
Utp14b	T	C	1: 78,664,607	V74A	possibly damaging	Het
Znrf3	T	C	11: 5,289,085	M93V	probably damaging	Het

Other mutations in Gm12695

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Gm12695	APN	4	96749182	missense	probably damaging	1.00
IGL01016:Gm12695	APN	4	96757947	missense	probably benign	0.03
IGL02605:Gm12695	APN	4	96762751	missense	probably null	0.92
IGL02734:Gm12695	APN	4	96724030	nonsense	probably null
IGL02869:Gm12695	APN	4	96762133	splice site	probably benign
R0020:Gm12695	UTSW	4	96769735	missense	probably damaging	0.96
R0465:Gm12695	UTSW	4	96785075	missense	probably damaging	1.00
R0941:Gm12695	UTSW	4	96728217	nonsense	probably null
R0968:Gm12695	UTSW	4	96762066	missense	probably damaging	1.00
R1965:Gm12695	UTSW	4	96762845	missense	probably benign	0.16
R1983:Gm12695	UTSW	4	96738977	missense	possibly damaging	0.84
R2051:Gm12695	UTSW	4	96769771	missense	probably damaging	0.99
R2063:Gm12695	UTSW	4	96769726	missense	probably benign	0.14
R2064:Gm12695	UTSW	4	96769726	missense	probably benign	0.14
R2065:Gm12695	UTSW	4	96769726	missense	probably benign	0.14
R2066:Gm12695	UTSW	4	96769726	missense	probably benign	0.14
R2067:Gm12695	UTSW	4	96769726	missense	probably benign	0.14
R2073:Gm12695	UTSW	4	96723945	missense	possibly damaging	0.76
R2075:Gm12695	UTSW	4	96723945	missense	possibly damaging	0.76
R2233:Gm12695	UTSW	4	96724029	missense	probably damaging	1.00
R2234:Gm12695	UTSW	4	96724029	missense	probably damaging	1.00
R2327:Gm12695	UTSW	4	96769656	missense	probably benign	0.00
R2507:Gm12695	UTSW	4	96754189	missense	probably damaging	0.99
R3836:Gm12695	UTSW	4	96762097	missense	probably damaging	0.99
R4685:Gm12695	UTSW	4	96761980	missense	probably damaging	1.00
R5491:Gm12695	UTSW	4	96769668	missense	possibly damaging	0.84
R5792:Gm12695	UTSW	4	96728283	missense	probably benign	0.00
R6767:Gm12695	UTSW	4	96762696	splice site	probably null
R6786:Gm12695	UTSW	4	96762821	missense	probably damaging	1.00
R6874:Gm12695	UTSW	4	96785069	missense	probably benign	0.04
R6923:Gm12695	UTSW	4	96769816	missense	probably benign	0.00
R6978:Gm12695	UTSW	4	96769722	missense	possibly damaging	0.69
R7810:Gm12695	UTSW	4	96731371	missense	probably damaging	0.99
R8263:Gm12695	UTSW	4	96762809	missense	probably benign	0.00
R8272:Gm12695	UTSW	4	96723946	missense	possibly damaging	0.76
R8285:Gm12695	UTSW	4	96769753	missense	possibly damaging	0.76
Z1177:Gm12695	UTSW	4	96749223	missense	probably damaging	1.00

Posted On

2015-12-18