Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02995:A530064D06Rik'

407084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A530064D06Rik

Ensembl Gene

ENSMUSG00000043939

Gene Name

RIKEN cDNA A530064D06 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02995

Quality Score

Status

Chromosome

Chromosomal Location

48459064-48474425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48470456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 175 (V175A)

Ref Sequence

ENSEMBL: ENSMUSP00000055935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027764] [ENSMUST00000053612]

AlphaFold

Q8BNV8

Predicted Effect

probably benign
Transcript: ENSMUST00000027764

SMART Domains

Protein: ENSMUSP00000027764
Gene: ENSMUSG00000043939

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	26	122	1.56e-5	SMART
low complexity region	144	158	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053612
AA Change: V175A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055935
Gene: ENSMUSG00000043939
AA Change: V175A

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	26	122	1.56e-5	SMART
low complexity region	147	166	N/A	INTRINSIC
transmembrane domain	191	213	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
Adam19	G	A	11: 46,027,176 (GRCm39)	R603Q	probably benign	Het
Adam25	T	C	8: 41,206,760 (GRCm39)	S9P	probably benign	Het
Akr1e1	T	A	13: 4,647,477 (GRCm39)		probably benign	Het
Ano8	C	T	8: 71,935,761 (GRCm39)	V286I	possibly damaging	Het
Baz1a	C	T	12: 54,947,232 (GRCm39)	R1139H	probably damaging	Het
Brca2	T	A	5: 150,452,953 (GRCm39)	L29H	probably damaging	Het
Btaf1	T	C	19: 36,958,535 (GRCm39)		probably benign	Het
C8b	T	A	4: 104,658,525 (GRCm39)		probably benign	Het
Cep295	A	T	9: 15,244,608 (GRCm39)	S1283T	probably damaging	Het
Cyp1a2	T	C	9: 57,584,511 (GRCm39)	*514W	probably null	Het
D2hgdh	G	T	1: 93,757,558 (GRCm39)	D158Y	probably damaging	Het
Dennd1b	G	A	1: 139,008,980 (GRCm39)	V228M	probably damaging	Het
Fgd6	T	A	10: 93,881,342 (GRCm39)	L732*	probably null	Het
Gm21969	G	A	4: 139,335,009 (GRCm39)	G348S	probably benign	Het
Gprc6a	C	T	10: 51,502,895 (GRCm39)	V323M	probably damaging	Het
Gzme	T	A	14: 56,356,166 (GRCm39)	M111L	probably damaging	Het
Iars2	G	T	1: 185,035,498 (GRCm39)	Q581K	probably benign	Het
Klra17	A	T	6: 129,845,647 (GRCm39)		probably null	Het
Klra5	A	T	6: 129,883,577 (GRCm39)	D93E	possibly damaging	Het
Lats2	T	C	14: 57,937,805 (GRCm39)	Y228C	probably damaging	Het
Lrrn3	T	C	12: 41,502,216 (GRCm39)	I700M	probably damaging	Het
Ltb	A	T	17: 35,414,348 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,923,279 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,480,198 (GRCm39)	E205V	probably damaging	Het
Or11l3	A	G	11: 58,516,107 (GRCm39)	M255T	possibly damaging	Het
Or12d13	A	T	17: 37,647,600 (GRCm39)	H174Q	probably damaging	Het
Or1e35	G	A	11: 73,798,045 (GRCm39)	T91M	possibly damaging	Het
Or1j17	C	T	2: 36,578,644 (GRCm39)	P210L	possibly damaging	Het
Pgap1	A	C	1: 54,532,509 (GRCm39)	I670S	probably benign	Het
Plxna4	A	T	6: 32,493,530 (GRCm39)	I362N	probably damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Prr27	T	C	5: 87,990,675 (GRCm39)	S96P	probably benign	Het
Psip1	T	A	4: 83,381,954 (GRCm39)		probably benign	Het
Rgs3	T	A	4: 62,544,084 (GRCm39)	H285Q	possibly damaging	Het
Ror1	T	C	4: 100,191,722 (GRCm39)		probably benign	Het
Rps6ka5	C	A	12: 100,540,258 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,404,105 (GRCm39)	Y533N	probably benign	Het
Snx6	T	C	12: 54,842,295 (GRCm39)		probably benign	Het
Tbc1d9	T	A	8: 83,995,688 (GRCm39)		probably null	Het
Tek	T	C	4: 94,627,877 (GRCm39)		probably benign	Het
Tor2a	T	A	2: 32,651,509 (GRCm39)	H241Q	possibly damaging	Het
Wnt5a	A	T	14: 28,244,871 (GRCm39)	I353F	probably benign	Het

Other mutations in A530064D06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:A530064D06Rik	APN	17	48,460,108 (GRCm39)	missense	probably damaging	0.99
IGL01761:A530064D06Rik	APN	17	48,460,127 (GRCm39)	missense	possibly damaging	0.91
IGL02001:A530064D06Rik	APN	17	48,473,842 (GRCm39)	missense	possibly damaging	0.74
IGL03109:A530064D06Rik	APN	17	48,473,628 (GRCm39)	missense	probably benign	0.13
FR4340:A530064D06Rik	UTSW	17	48,470,549 (GRCm39)	small deletion	probably benign
FR4589:A530064D06Rik	UTSW	17	48,470,549 (GRCm39)	small deletion	probably benign
IGL02984:A530064D06Rik	UTSW	17	48,470,448 (GRCm39)	missense	probably benign	0.06
R0206:A530064D06Rik	UTSW	17	48,470,486 (GRCm39)	missense	probably benign	0.00
R0206:A530064D06Rik	UTSW	17	48,470,486 (GRCm39)	missense	probably benign	0.00
R0660:A530064D06Rik	UTSW	17	48,473,759 (GRCm39)	missense	probably benign	0.18
R0664:A530064D06Rik	UTSW	17	48,473,759 (GRCm39)	missense	probably benign	0.18
R0671:A530064D06Rik	UTSW	17	48,473,824 (GRCm39)	missense	probably benign	0.05
R1587:A530064D06Rik	UTSW	17	48,473,585 (GRCm39)	missense	probably benign	0.20
R4087:A530064D06Rik	UTSW	17	48,473,678 (GRCm39)	missense	probably damaging	0.96
R4089:A530064D06Rik	UTSW	17	48,473,678 (GRCm39)	missense	probably damaging	0.96
R4963:A530064D06Rik	UTSW	17	48,470,582 (GRCm39)	missense	probably benign	0.34
R5060:A530064D06Rik	UTSW	17	48,474,107 (GRCm39)	missense	probably damaging	1.00
R5083:A530064D06Rik	UTSW	17	48,473,558 (GRCm39)	missense	possibly damaging	0.86
R5219:A530064D06Rik	UTSW	17	48,470,518 (GRCm39)	missense	possibly damaging	0.70
R6175:A530064D06Rik	UTSW	17	48,460,016 (GRCm39)	missense	possibly damaging	0.91
R6189:A530064D06Rik	UTSW	17	48,474,222 (GRCm39)	start gained	probably benign
R6420:A530064D06Rik	UTSW	17	48,473,566 (GRCm39)	missense	probably damaging	1.00
R6439:A530064D06Rik	UTSW	17	48,473,653 (GRCm39)	missense	probably damaging	1.00
R7417:A530064D06Rik	UTSW	17	48,460,057 (GRCm39)	missense	probably damaging	1.00
Z1177:A530064D06Rik	UTSW	17	48,473,674 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02