Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01373:Gm12666'

84078

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm12666

Ensembl Gene

ENSMUSG00000066107

Gene Name

predicted gene 12666

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

92190744-92191749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92191625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 42 (V42A)

Ref Sequence

ENSEMBL: ENSMUSP00000122212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123179]

AlphaFold

A2AMD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000123179
AA Change: V42A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122212
Gene: ENSMUSG00000066107
AA Change: V42A

Domain	Start	End	E-Value	Type
RRM	3	73	9.8e-9	SMART
low complexity region	87	103	N/A	INTRINSIC
low complexity region	134	153	N/A	INTRINSIC
low complexity region	179	188	N/A	INTRINSIC
low complexity region	228	246	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	T	7: 119,711,419	R510*	probably null	Het
Adamts12	A	T	15: 11,310,730	E1024D	probably benign	Het
Aff2	T	A	X: 69,867,729	D1239E	possibly damaging	Het
Agps	T	C	2: 75,852,784	V151A	probably benign	Het
Cables1	A	T	18: 11,888,764	R276S	probably damaging	Het
Cep72	A	G	13: 74,059,459	S64P	probably damaging	Het
Cmah	A	T	13: 24,430,549	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpxm1	T	C	2: 130,394,135	E369G	probably damaging	Het
Dnah6	A	G	6: 73,074,748	L3021P	probably benign	Het
Esyt1	T	C	10: 128,518,941	E530G	possibly damaging	Het
Fancd2	A	G	6: 113,553,752	I449V	probably benign	Het
Fbxw24	C	T	9: 109,623,633	G98D	probably damaging	Het
Folh1	T	C	7: 86,746,142	I361V	probably benign	Het
Gpr19	T	A	6: 134,870,321	H41L	possibly damaging	Het
Kcnq4	A	G	4: 120,717,032	V143A	probably damaging	Het
Lmcd1	A	G	6: 112,310,625	I91V	probably benign	Het
Lpin3	G	T	2: 160,903,729	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,529,507	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,184,346		probably benign	Het
Nxnl2	T	C	13: 51,171,452	F44L	probably damaging	Het
Olfr698	T	C	7: 106,752,446		probably benign	Het
Olfr744	T	A	14: 50,618,612	I130N	probably damaging	Het
Pcdhb20	A	T	18: 37,506,568	R716W	probably benign	Het
Pcx	T	A	19: 4,620,235		probably null	Het
Plekhf1	T	C	7: 38,221,797	T116A	probably benign	Het
Psmb2	G	T	4: 126,687,092	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,835,216	L42*	probably null	Het
Ptpn22	A	T	3: 103,886,204	D557V	probably damaging	Het
Rbbp5	G	A	1: 132,492,601	V191I	probably benign	Het
Rgs1	T	A	1: 144,245,378	D185V	probably damaging	Het
Selenoh	A	G	2: 84,670,594		probably benign	Het
Slc6a5	C	T	7: 49,917,733	P312S	probably benign	Het
Snapc1	T	A	12: 73,964,680	M40K	probably benign	Het
Sptbn2	T	G	19: 4,745,972	Y1726*	probably null	Het
Syne2	T	C	12: 75,987,107	I3710T	probably damaging	Het
Tdrd9	G	A	12: 112,040,434	V911M	probably damaging	Het
Tex9	A	T	9: 72,480,754	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,775,957	C1063F	possibly damaging	Het
Usp38	C	A	8: 80,990,018	A496S	possibly damaging	Het
Vmn2r13	T	A	5: 109,156,702	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het

Other mutations in Gm12666

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Gm12666	APN	4	92191500	splice site	probably null
IGL02690:Gm12666	APN	4	92191011	missense	probably damaging	0.98
IGL03052:Gm12666	UTSW	4	92191050	missense	probably benign	0.01
R2094:Gm12666	UTSW	4	92191656	missense	probably damaging	1.00
R2567:Gm12666	UTSW	4	92191323	missense	probably benign	0.10
R3438:Gm12666	UTSW	4	92191682	missense	possibly damaging	0.94
R3439:Gm12666	UTSW	4	92191682	missense	possibly damaging	0.94
R4388:Gm12666	UTSW	4	92191114	missense	probably benign	0.00
R4710:Gm12666	UTSW	4	92190975	missense	possibly damaging	0.94
R5810:Gm12666	UTSW	4	92191583	critical splice donor site	probably null
R6969:Gm12666	UTSW	4	92191589	missense	probably damaging	1.00
R7486:Gm12666	UTSW	4	92191269	missense	probably benign	0.11
R9568:Gm12666	UTSW	4	92191678	nonsense	probably null
X0067:Gm12666	UTSW	4	92191334	splice site	probably null
Z1177:Gm12666	UTSW	4	92191236	missense	possibly damaging	0.50
Z1177:Gm12666	UTSW	4	92191703	missense	probably damaging	1.00

Posted On

2013-11-11