Mutagenetix > Incidental Mutation

Incidental Mutation 'R6439:A530064D06Rik'

518951

Institutional Source

Beutler Lab

Gene Symbol

A530064D06Rik

Ensembl Gene

ENSMUSG00000043939

Gene Name

RIKEN cDNA A530064D06 gene

Synonyms

MMRRC Submission

044577-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48459064-48474425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48473653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 88 (V88A)

Ref Sequence

ENSEMBL: ENSMUSP00000027764 (fasta)

Gene Model

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

AlphaFold

Q8BNV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027764
AA Change: V88A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027764
Gene: ENSMUSG00000043939
AA Change: V88A

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 damaging
Transcript: ENSMUST00000053612
AA Change: V88A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055935
Gene: ENSMUSG00000043939
AA Change: V88A

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	T	C	15: 57,895,444 (GRCm39)	D18G	probably null	Het
Abhd6	T	C	14: 8,055,589 (GRCm38)	L272P	probably damaging	Het
Adam25	C	T	8: 41,207,627 (GRCm39)	R298C	possibly damaging	Het
Adam34l	T	C	8: 44,078,988 (GRCm39)	N412S	probably damaging	Het
Afap1l2	T	C	19: 56,916,818 (GRCm39)	N219D	possibly damaging	Het
Brd3	A	G	2: 27,353,938 (GRCm39)	F58S	probably damaging	Het
Ceacam3	G	A	7: 16,892,253 (GRCm39)	R332H	possibly damaging	Het
Cfap57	C	A	4: 118,446,172 (GRCm39)		probably null	Het
Chd2	A	G	7: 73,130,154 (GRCm39)	F834L	probably damaging	Het
Crocc2	A	G	1: 93,111,126 (GRCm39)	K140E	possibly damaging	Het
Fam117b	A	G	1: 60,020,731 (GRCm39)	T534A	probably benign	Het
Fchsd1	C	T	18: 38,102,487 (GRCm39)	V14I	probably damaging	Het
Grid2ip	A	T	5: 143,359,257 (GRCm39)	E291V	probably damaging	Het
Hbp1	A	G	12: 31,987,720 (GRCm39)	L146S	probably damaging	Het
Hr	A	G	14: 70,799,276 (GRCm39)	D616G	possibly damaging	Het
Igfbp5	A	C	1: 72,902,300 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,287,022 (GRCm39)		probably null	Het
Mpl	T	C	4: 118,305,750 (GRCm39)	D425G	probably damaging	Het
Ms4a4c	T	C	19: 11,398,676 (GRCm39)	S165P	probably benign	Het
Mycbp2	A	G	14: 103,392,911 (GRCm39)	S3217P	probably benign	Het
Nfatc3	T	A	8: 106,810,502 (GRCm39)	L426*	probably null	Het
Or4f47	T	C	2: 111,972,509 (GRCm39)	V73A	probably benign	Het
Or5ak24	T	C	2: 85,261,068 (GRCm39)	Y35C	probably damaging	Het
Or7a42	T	A	10: 78,791,818 (GRCm39)	Y260N	probably damaging	Het
Phf1	G	T	17: 27,155,586 (GRCm39)	V384L	probably benign	Het
Rangap1	T	C	15: 81,596,336 (GRCm39)	T259A	probably benign	Het
Rec8	A	G	14: 55,856,076 (GRCm39)	N6S	possibly damaging	Het
Rmdn2	G	A	17: 79,934,971 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,118,945 (GRCm39)	Y617C	probably damaging	Het
Ttc13	T	C	8: 125,400,221 (GRCm39)	S744G	probably benign	Het
Ttc14	T	C	3: 33,862,968 (GRCm39)		probably benign	Het
Uggt1	T	C	1: 36,214,032 (GRCm39)	E219G	possibly damaging	Het
Vmn1r183	A	G	7: 23,754,704 (GRCm39)	D169G	possibly damaging	Het
Vmn1r72	A	T	7: 11,413,064 (GRCm39)		probably null	Het
Zfp326	T	G	5: 106,036,584 (GRCm39)	M76R	probably null	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
IGL02995:A530064D06Rik	APN	17	48,470,456 (GRCm39)	missense	probably benign	0.23
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
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

Predicted Primers

Posted On

2018-05-24