Mutagenetix > Incidental Mutation

Incidental Mutation 'R6058:4930505A04Rik'

483065

Institutional Source

Beutler Lab

Gene Symbol

4930505A04Rik

Ensembl Gene

ENSMUSG00000040919

Gene Name

RIKEN cDNA 4930505A04 gene

Synonyms

MMRRC Submission

044224-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6058 (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: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	A	15: 94,227,928 (GRCm39)	R1040*	probably null	Het
Akt1	A	G	12: 112,628,634 (GRCm39)	L52P	probably damaging	Het
Alk	T	A	17: 72,176,742 (GRCm39)	T1521S	probably benign	Het
Armt1	A	G	10: 4,403,488 (GRCm39)	N191S	probably damaging	Het
Ascl1	T	G	10: 87,328,562 (GRCm39)	N130T	probably damaging	Het
Bahcc1	T	G	11: 120,178,211 (GRCm39)	S2257A	probably damaging	Het
Cd86	T	C	16: 36,449,377 (GRCm39)	M7V	possibly damaging	Het
Cep57	A	T	9: 13,722,057 (GRCm39)	S304R	possibly damaging	Het
Cep57l1	A	T	10: 41,616,918 (GRCm39)	I123N	possibly damaging	Het
Cers6	A	G	2: 68,692,008 (GRCm39)	N10S	probably benign	Het
Chrng	A	G	1: 87,139,074 (GRCm39)	D475G	probably damaging	Het
Crabp1	T	A	9: 54,680,129 (GRCm39)	V128E	probably damaging	Het
Csnk2a1-ps3	T	C	1: 156,352,425 (GRCm39)	Y209H	probably damaging	Het
Dcdc2a	T	C	13: 25,240,354 (GRCm39)	V34A	possibly damaging	Het
Eeig1	G	A	2: 32,450,102 (GRCm39)	V117I	probably benign	Het
Fbn1	A	G	2: 125,308,532 (GRCm39)	C177R	possibly damaging	Het
Fras1	A	G	5: 96,857,844 (GRCm39)	D2046G	probably benign	Het
Glul	T	C	1: 153,783,087 (GRCm39)	I220T	probably benign	Het
Gpc6	C	T	14: 118,202,182 (GRCm39)	T464M	probably damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
H2-K2	G	T	17: 34,218,304 (GRCm39)	T204K	probably benign	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hecw2	T	C	1: 53,963,135 (GRCm39)	H792R	possibly damaging	Het
Herc4	T	A	10: 63,110,821 (GRCm39)	I244K	possibly damaging	Het
Hsd11b2	G	T	8: 106,249,966 (GRCm39)	R359L	possibly damaging	Het
Igsf9	G	A	1: 172,312,456 (GRCm39)	E56K	probably damaging	Het
Il9	T	C	13: 56,628,495 (GRCm39)	T65A	possibly damaging	Het
Kcnip1	T	C	11: 33,592,478 (GRCm39)	T102A	probably damaging	Het
L3mbtl2	T	C	15: 81,551,555 (GRCm39)	S74P	probably benign	Het
Lamc2	C	T	1: 153,012,575 (GRCm39)	D700N	probably benign	Het
Ldb2	T	C	5: 44,633,905 (GRCm39)	T322A	possibly damaging	Het
Lix1	A	T	17: 17,664,012 (GRCm39)	I117F	probably damaging	Het
Map2	T	A	1: 66,454,573 (GRCm39)	D1154E	probably benign	Het
Marco	A	T	1: 120,404,435 (GRCm39)	I425N	probably damaging	Het
Mark4	T	C	7: 19,160,310 (GRCm39)	E650G	probably benign	Het
Mink1	A	G	11: 70,502,546 (GRCm39)	T1086A	possibly damaging	Het
Nxf1	G	A	19: 8,745,186 (GRCm39)	V479M	probably damaging	Het
Or10v1	T	A	19: 11,873,388 (GRCm39)	M1K	probably null	Het
Or11g2	T	C	14: 50,856,158 (GRCm39)	F160L	probably benign	Het
Or2n1e	A	G	17: 38,586,150 (GRCm39)	T163A	probably damaging	Het
Or5h23	T	C	16: 58,906,273 (GRCm39)	D191G	probably damaging	Het
Or5h23	A	G	16: 58,906,792 (GRCm39)	V18A	probably benign	Het
Or6c5	T	C	10: 129,074,329 (GRCm39)	S104P	probably damaging	Het
Otx2	T	C	14: 48,896,215 (GRCm39)	D281G	probably damaging	Het
Pcdhga3	A	T	18: 37,808,141 (GRCm39)	D198V	probably damaging	Het
Ppp1r13l	T	C	7: 19,104,500 (GRCm39)	V273A	probably benign	Het
Ppp6r2	T	C	15: 89,137,455 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,143,995 (GRCm39)	I273F	possibly damaging	Het
Prg4	C	T	1: 150,327,197 (GRCm39)	G873D	probably damaging	Het
Ptprq	T	C	10: 107,471,135 (GRCm39)	N1422S	probably benign	Het
Rbm27	A	T	18: 42,460,570 (GRCm39)	K839M	probably damaging	Het
Rere	A	T	4: 150,553,255 (GRCm39)	N149I	probably damaging	Het
Ret	A	G	6: 118,156,280 (GRCm39)	L340S	probably benign	Het
Sel1l2	T	A	2: 140,082,889 (GRCm39)	D583V	possibly damaging	Het
Shroom1	A	T	11: 53,354,308 (GRCm39)	D76V	possibly damaging	Het
Slc5a3	C	A	16: 91,875,963 (GRCm39)	S673R	probably benign	Het
Spink1	A	T	18: 43,861,247 (GRCm39)	I74N	probably damaging	Het
Tbc1d1	T	A	5: 64,435,352 (GRCm39)	S497T	probably damaging	Het
Trim3	C	T	7: 105,260,278 (GRCm39)	R741Q	probably damaging	Het
Ttn	A	G	2: 76,747,022 (GRCm39)	C4676R	probably benign	Het
Ubqlnl	G	A	7: 103,797,959 (GRCm39)	P513S	probably benign	Het
Unc13d	C	T	11: 115,964,394 (GRCm39)		probably null	Het
Vmn1r125	TGG	TG	7: 21,006,144 (GRCm39)		probably null	Het
Vmn2r7	A	T	3: 64,632,436 (GRCm39)	C9S	probably benign	Het
Xdh	T	A	17: 74,213,264 (GRCm39)	M829L	probably damaging	Het
Zcrb1	A	G	15: 93,285,463 (GRCm39)	F173L	probably benign	Het
Zfp41	T	C	15: 75,490,372 (GRCm39)	V108A	probably damaging	Het
Zfp438	T	C	18: 5,213,209 (GRCm39)	E583G	probably damaging	Het
Zfp628	T	C	7: 4,923,917 (GRCm39)	L713P	probably damaging	Het
Zfp664	T	A	5: 124,963,042 (GRCm39)	C145*	probably null	Het
Zfp683	T	C	4: 133,786,042 (GRCm39)	C390R	probably damaging	Het
Zfp941	G	A	7: 140,392,010 (GRCm39)	P450S	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
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
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

PCR Primer
(F):5'- CAACTCTTGGGAATTCTGTTGG -3'
(R):5'- CACAGGCTCTTCTCTGACTG -3'

Sequencing Primer
(F):5'- AACTCTTGGGAATTCTGTTGGCATAG -3'
(R):5'- ACAGGCTCTTCTCTGACTGTTTTAC -3'

Posted On

2017-07-14