Mutagenetix > Incidental Mutation

Incidental Mutation 'R6032:4930505A04Rik'

480461

Institutional Source

Beutler Lab

Gene Symbol

4930505A04Rik

Ensembl Gene

ENSMUSG00000040919

Gene Name

RIKEN cDNA 4930505A04 gene

Synonyms

MMRRC Submission

044204-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6032 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30376006-30421827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30376349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 173 (V173M)

Ref Sequence

ENSEMBL: ENSMUSP00000045288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041763] [ENSMUST00000152718]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041763
AA Change: V173M

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000152718

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.0%
20x: 85.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,526,799 (GRCm39)	K1071*	probably null	Het
Abca13	G	T	11: 9,247,752 (GRCm39)	V2500F	possibly damaging	Het
Adamdec1	T	C	14: 68,816,633 (GRCm39)	E85G	probably damaging	Het
Aldh8a1	T	C	10: 21,264,970 (GRCm39)	V199A	probably benign	Het
Aoc2	G	A	11: 101,216,627 (GRCm39)	V237M	probably damaging	Het
Aplp2	C	T	9: 31,062,240 (GRCm39)	R672H	probably damaging	Het
Apob	A	G	12: 8,045,513 (GRCm39)	N886S	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atp6v1a	T	C	16: 43,927,303 (GRCm39)	Y328C	probably damaging	Het
Bag4	T	C	8: 26,267,521 (GRCm39)	Y103C	probably damaging	Het
Crem	C	T	18: 3,267,673 (GRCm39)	R190Q	probably damaging	Het
Crybg1	A	G	10: 43,832,756 (GRCm39)	S2000P	probably damaging	Het
Cubn	T	A	2: 13,329,995 (GRCm39)	T2629S	probably benign	Het
Cyp3a44	G	T	5: 145,714,756 (GRCm39)	S465Y	probably damaging	Het
Daam2	A	C	17: 49,793,525 (GRCm39)	F331V	probably damaging	Het
Dnajc3	T	C	14: 119,205,443 (GRCm39)	S146P	possibly damaging	Het
Dscam	A	G	16: 96,451,191 (GRCm39)		probably null	Het
Fam184b	G	A	5: 45,740,238 (GRCm39)	S316L	probably benign	Het
Fat2	G	C	11: 55,144,760 (GRCm39)	T4038S	probably damaging	Het
Fbxl19	C	T	7: 127,360,437 (GRCm39)	R439C	probably damaging	Het
Gm3454	T	A	15: 75,183,448 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,617 (GRCm39)	E284G	probably benign	Het
Grm1	A	T	10: 10,595,549 (GRCm39)	I693N	probably damaging	Het
Gsdme	T	A	6: 50,222,934 (GRCm39)	Q127L	probably damaging	Het
Ifnlr1	A	G	4: 135,432,937 (GRCm39)	K458E	probably benign	Het
Kcns2	T	C	15: 34,839,080 (GRCm39)	F148L	probably benign	Het
Lama1	A	G	17: 68,057,638 (GRCm39)	T571A	probably benign	Het
Loxhd1	G	A	18: 77,469,254 (GRCm39)	V108M	probably damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Ncor1	A	T	11: 62,264,147 (GRCm39)	D144E	possibly damaging	Het
Nos3	A	T	5: 24,584,809 (GRCm39)	T738S	probably benign	Het
Nrxn2	A	T	19: 6,567,162 (GRCm39)	T1353S	probably damaging	Het
Or2b7	G	T	13: 21,740,077 (GRCm39)	S38R	probably benign	Het
Or4f4b	T	C	2: 111,314,195 (GRCm39)	L140P	probably damaging	Het
Or8g17	A	G	9: 38,930,261 (GRCm39)	I192T	probably benign	Het
Pfpl	A	G	19: 12,406,747 (GRCm39)	T333A	probably damaging	Het
Postn	A	T	3: 54,284,137 (GRCm39)	I565F	possibly damaging	Het
Ppef2	A	G	5: 92,378,383 (GRCm39)	V604A	probably benign	Het
Pramel13	A	C	4: 144,119,598 (GRCm39)	I323S	possibly damaging	Het
Rel	A	G	11: 23,692,684 (GRCm39)	S450P	probably benign	Het
Rpap2	A	C	5: 107,745,661 (GRCm39)	D3A	probably damaging	Het
Shisa9	T	C	16: 11,802,772 (GRCm39)	F110L	possibly damaging	Het
Slc25a10	A	T	11: 120,385,784 (GRCm39)		probably null	Het
Slx4	A	T	16: 3,798,021 (GRCm39)	F1454L	probably damaging	Het
Smc1b	A	T	15: 84,950,430 (GRCm39)	V1198D	possibly damaging	Het
Supt5	T	C	7: 28,015,600 (GRCm39)	Y879C	probably damaging	Het
Tbx15	T	C	3: 99,259,833 (GRCm39)	M568T	probably benign	Het
Tle4	T	C	19: 14,429,472 (GRCm39)	H698R	possibly damaging	Het
Trappc9	T	C	15: 72,797,379 (GRCm39)	N803D	probably benign	Het
Trim10	A	T	17: 37,182,606 (GRCm39)	R157S	possibly damaging	Het
Wsb1	T	C	11: 79,131,025 (GRCm39)		probably benign	Het
Zfp106	T	C	2: 120,365,874 (GRCm39)	S178G	probably benign	Het
Zftraf1	C	T	15: 76,543,058 (GRCm39)	R34Q	probably damaging	Het

Other mutations in 4930505A04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:4930505A04Rik	APN	11	30,404,843 (GRCm39)	missense	possibly damaging	0.69
IGL01545:4930505A04Rik	APN	11	30,376,228 (GRCm39)	missense	probably benign	0.13
R0400:4930505A04Rik	UTSW	11	30,376,360 (GRCm39)	missense	probably benign	0.09
R1029:4930505A04Rik	UTSW	11	30,396,389 (GRCm39)	splice site	probably benign
R1029:4930505A04Rik	UTSW	11	30,376,177 (GRCm39)	missense	probably damaging	0.96
R1585:4930505A04Rik	UTSW	11	30,377,175 (GRCm39)	splice site	probably benign
R4708:4930505A04Rik	UTSW	11	30,404,717 (GRCm39)	missense	probably damaging	0.98
R4993:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R4994:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R4995:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R4996:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5187:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5189:4930505A04Rik	UTSW	11	30,376,169 (GRCm39)	missense	probably damaging	0.97
R5330:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5333:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5448:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5449:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5450:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5475:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5477:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5665:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5823:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5832:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5833:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5835:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5873:4930505A04Rik	UTSW	11	30,376,220 (GRCm39)	nonsense	probably null
R6032:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R6037:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R6037:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R6058:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R6224:4930505A04Rik	UTSW	11	30,404,815 (GRCm39)	missense	probably benign	0.44
R8394:4930505A04Rik	UTSW	11	30,404,880 (GRCm39)	critical splice acceptor site	probably null
R8536:4930505A04Rik	UTSW	11	30,376,217 (GRCm39)	missense	probably benign	0.19
R9149:4930505A04Rik	UTSW	11	30,396,304 (GRCm39)	missense	probably benign	0.39
R9765:4930505A04Rik	UTSW	11	30,404,829 (GRCm39)	missense	probably benign	0.01
RF046:4930505A04Rik	UTSW	11	30,376,249 (GRCm39)	frame shift	probably null

Predicted Primers

Posted On

2017-06-26