Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:4930505A04Rik'

486641

Institutional Source

Beutler Lab

Gene Symbol

4930505A04Rik

Ensembl Gene

ENSMUSG00000040919

Gene Name

RIKEN cDNA 4930505A04 gene

Synonyms

MMRRC Submission

043258-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30426006-30471827 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30426349 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 173 (V173M)

Ref Sequence

ENSEMBL: ENSMUSP00000045288 (fasta)

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: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	C	A	1: 60,464,579	P212T	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Cfap52	C	T	11: 67,946,300	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Ece2	A	G	16: 20,630,362	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Nomo1	T	A	7: 46,062,999	I656N	possibly damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Olr1	A	G	6: 129,493,541	L221P	probably damaging	Het
Pih1d1	C	T	7: 45,156,314	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,612,228	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zeb2	G	T	2: 44,988,640	S1170*	probably null	Het
Zfp947	A	G	17: 22,147,434	Y38H	probably damaging	Het

Other mutations in 4930505A04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:4930505A04Rik	APN	11	30454843	missense	possibly damaging	0.69
IGL01545:4930505A04Rik	APN	11	30426228	missense	probably benign	0.13
R0400:4930505A04Rik	UTSW	11	30426360	missense	probably benign	0.09
R1029:4930505A04Rik	UTSW	11	30426177	missense	probably damaging	0.96
R1029:4930505A04Rik	UTSW	11	30446389	splice site	probably benign
R1585:4930505A04Rik	UTSW	11	30427175	splice site	probably benign
R4708:4930505A04Rik	UTSW	11	30454717	missense	probably damaging	0.98
R4993:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R4994:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R4995:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R4996:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5187:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5189:4930505A04Rik	UTSW	11	30426169	missense	probably damaging	0.97
R5330:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5333:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5448:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5449:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5450:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5475:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5477:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5665:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5823:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5832:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5833:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5835:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R5873:4930505A04Rik	UTSW	11	30426220	nonsense	probably null
R6032:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R6032:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R6037:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R6058:4930505A04Rik	UTSW	11	30426349	missense	probably damaging	0.97
R6224:4930505A04Rik	UTSW	11	30454815	missense	probably benign	0.44
R8394:4930505A04Rik	UTSW	11	30454880	critical splice acceptor site	probably null
R8536:4930505A04Rik	UTSW	11	30426217	missense	probably benign	0.19
RF046:4930505A04Rik	UTSW	11	30426249	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

2017-08-16