Mutagenetix > Incidental Mutation

Incidental Mutation 'R5479:B020004C17Rik'

434237

Institutional Source

Beutler Lab

Gene Symbol

B020004C17Rik

Ensembl Gene

ENSMUSG00000096144

Gene Name

RIKEN cDNA B020004C17 gene

Synonyms

MMRRC Submission

043040-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5479 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57015134-57018982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57016542 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 41 (S41P)

Ref Sequence

ENSEMBL: ENSMUSP00000137042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178161]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000178161
AA Change: S41P

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137042
Gene: ENSMUSG00000096144
AA Change: S41P

Domain	Start	End	E-Value	Type
low complexity region	70	83	N/A	INTRINSIC
low complexity region	221	231	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225045

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	G	T	19: 55,280,462	C185F	probably damaging	Het
Adad2	C	A	8: 119,614,915	T185N	possibly damaging	Het
Apbb1	A	T	7: 105,565,025	V315E	probably damaging	Het
Arfrp1	T	C	2: 181,364,398	T32A	probably damaging	Het
Celsr3	T	C	9: 108,844,544		probably null	Het
Chd8	C	T	14: 52,215,195	G1289D	probably benign	Het
Ctrl	A	G	8: 105,933,040	F59S	probably damaging	Het
Cyp4v3	T	A	8: 45,310,206	D356V	probably benign	Het
Dgka	T	A	10: 128,729,672		probably null	Het
Dnah7b	T	C	1: 46,223,105	Y2043H	probably damaging	Het
Eya3	A	G	4: 132,672,933	T88A	possibly damaging	Het
Fat1	A	G	8: 45,036,875	D3608G	possibly damaging	Het
Fmo1	T	C	1: 162,850,224	T108A	probably damaging	Het
Frs3	A	G	17: 47,701,710	E114G	probably damaging	Het
Ftcd	A	T	10: 76,578,016	M85L	probably benign	Het
Ggnbp2	T	C	11: 84,854,343	S189G	probably benign	Het
Gm10251	C	T	14: 6,675,781	R35H	unknown	Het
Gnai2	T	G	9: 107,635,166	M18L	probably benign	Het
Gpx5	T	C	13: 21,292,635	Y9C	probably benign	Het
Grik1	C	A	16: 87,936,026	A668S	probably damaging	Het
Hectd4	A	T	5: 121,306,948	M83L	probably benign	Het
Klra9	T	C	6: 130,179,112	R227G	probably benign	Het
Maz	A	T	7: 127,025,688	V197D	possibly damaging	Het
Mbd5	T	C	2: 49,272,905	V241A	probably damaging	Het
Mdga2	C	T	12: 66,655,176	C417Y	probably damaging	Het
Mios	C	T	6: 8,215,314	T170I	probably benign	Het
Myh13	G	A	11: 67,348,822	A733T	probably damaging	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Nfs1	G	A	2: 156,128,502	T297I	probably damaging	Het
Nrbf2	A	G	10: 67,285,091		probably null	Het
Nrg1	T	C	8: 31,818,377	Y537C	probably damaging	Het
Olfr1208	T	C	2: 88,896,691	D302G	probably benign	Het
Onecut3	T	A	10: 80,514,022	L450Q	probably damaging	Het
Pard3	G	A	8: 127,370,355	R333Q	probably damaging	Het
Parp4	T	C	14: 56,624,095	F962L	probably benign	Het
Pilra	A	G	5: 137,836,056	S22P	possibly damaging	Het
Piwil4	T	C	9: 14,705,041	Y673C	probably damaging	Het
Plxna2	G	A	1: 194,793,873	D1134N	probably benign	Het
Pnpla7	T	C	2: 25,019,441	V681A	possibly damaging	Het
Ppfibp1	T	A	6: 147,030,150		probably null	Het
Ptprz1	C	T	6: 23,001,666	L1252F	probably benign	Het
Sptb	T	C	12: 76,599,851	E1999G	probably benign	Het
Stat3	T	C	11: 100,889,888		probably benign	Het
Usp25	T	C	16: 77,107,913	V789A	possibly damaging	Het
Zfp148	C	A	16: 33,497,219	Q712K	probably damaging	Het

Other mutations in B020004C17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:B020004C17Rik	APN	14	57016023	missense	probably damaging	0.96
IGL03396:B020004C17Rik	APN	14	57016536	missense	possibly damaging	0.61
R0664:B020004C17Rik	UTSW	14	57016768	missense	possibly damaging	0.56
R3977:B020004C17Rik	UTSW	14	57017188	missense	possibly damaging	0.78
R3978:B020004C17Rik	UTSW	14	57017188	missense	possibly damaging	0.78
R3979:B020004C17Rik	UTSW	14	57017188	missense	possibly damaging	0.78
R4415:B020004C17Rik	UTSW	14	57017417	makesense	probably null
R5290:B020004C17Rik	UTSW	14	57016579	missense	possibly damaging	0.94
R5651:B020004C17Rik	UTSW	14	57015232	start gained	probably benign
R5655:B020004C17Rik	UTSW	14	57015232	start gained	probably benign
R5736:B020004C17Rik	UTSW	14	57017366	missense	possibly damaging	0.66
R7368:B020004C17Rik	UTSW	14	57017316	missense	possibly damaging	0.95
R7759:B020004C17Rik	UTSW	14	57016785	missense	possibly damaging	0.96
R9299:B020004C17Rik	UTSW	14	57016773	missense	probably damaging	0.96
R9410:B020004C17Rik	UTSW	14	57016816	missense	possibly damaging	0.92
Z1177:B020004C17Rik	UTSW	14	57015260	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCCAATGAGTGTACTTCTTGCTG -3'
(R):5'- GTGTGTGCAGGTCCTTCATC -3'

Sequencing Primer
(F):5'- CTGTAACAGGGCTGGTAAGACTG -3'
(R):5'- TTCATCTTCACCATCACATCAAGG -3'

Posted On

2016-10-06