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

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5479 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57252591-57256439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57253999 bp (GRCm39)

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: 55,268,894 (GRCm39)	C185F	probably damaging	Het
Adad2	C	A	8: 120,341,654 (GRCm39)	T185N	possibly damaging	Het
Apbb1	A	T	7: 105,214,232 (GRCm39)	V315E	probably damaging	Het
Arfrp1	T	C	2: 181,006,191 (GRCm39)	T32A	probably damaging	Het
Celsr3	T	C	9: 108,721,743 (GRCm39)		probably null	Het
Chd8	C	T	14: 52,452,652 (GRCm39)	G1289D	probably benign	Het
Ctrl	A	G	8: 106,659,672 (GRCm39)	F59S	probably damaging	Het
Cyp4v3	T	A	8: 45,763,243 (GRCm39)	D356V	probably benign	Het
Dgka	T	A	10: 128,565,541 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,262,265 (GRCm39)	Y2043H	probably damaging	Het
Eya3	A	G	4: 132,400,244 (GRCm39)	T88A	possibly damaging	Het
Fat1	A	G	8: 45,489,912 (GRCm39)	D3608G	possibly damaging	Het
Fmo1	T	C	1: 162,677,793 (GRCm39)	T108A	probably damaging	Het
Frs3	A	G	17: 48,012,635 (GRCm39)	E114G	probably damaging	Het
Ftcd	A	T	10: 76,413,850 (GRCm39)	M85L	probably benign	Het
Ggnbp2	T	C	11: 84,745,169 (GRCm39)	S189G	probably benign	Het
Gm3629	C	T	14: 17,875,765 (GRCm39)	R35H	unknown	Het
Gnai2	T	G	9: 107,512,365 (GRCm39)	M18L	probably benign	Het
Gpx5	T	C	13: 21,476,805 (GRCm39)	Y9C	probably benign	Het
Grik1	C	A	16: 87,732,914 (GRCm39)	A668S	probably damaging	Het
Hectd4	A	T	5: 121,445,011 (GRCm39)	M83L	probably benign	Het
Klra9	T	C	6: 130,156,075 (GRCm39)	R227G	probably benign	Het
Maz	A	T	7: 126,624,860 (GRCm39)	V197D	possibly damaging	Het
Mbd5	T	C	2: 49,162,917 (GRCm39)	V241A	probably damaging	Het
Mdga2	C	T	12: 66,701,950 (GRCm39)	C417Y	probably damaging	Het
Mios	C	T	6: 8,215,314 (GRCm39)	T170I	probably benign	Het
Myh13	G	A	11: 67,239,648 (GRCm39)	A733T	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nfs1	G	A	2: 155,970,422 (GRCm39)	T297I	probably damaging	Het
Nrbf2	A	G	10: 67,120,870 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,308,405 (GRCm39)	Y537C	probably damaging	Het
Onecut3	T	A	10: 80,349,856 (GRCm39)	L450Q	probably damaging	Het
Or4p8	T	C	2: 88,727,035 (GRCm39)	D302G	probably benign	Het
Pard3	G	A	8: 128,096,836 (GRCm39)	R333Q	probably damaging	Het
Parp4	T	C	14: 56,861,552 (GRCm39)	F962L	probably benign	Het
Pilra	A	G	5: 137,834,318 (GRCm39)	S22P	possibly damaging	Het
Piwil4	T	C	9: 14,616,337 (GRCm39)	Y673C	probably damaging	Het
Plxna2	G	A	1: 194,476,181 (GRCm39)	D1134N	probably benign	Het
Pnpla7	T	C	2: 24,909,453 (GRCm39)	V681A	possibly damaging	Het
Ppfibp1	T	A	6: 146,931,648 (GRCm39)		probably null	Het
Ptprz1	C	T	6: 23,001,665 (GRCm39)	L1252F	probably benign	Het
Sptb	T	C	12: 76,646,625 (GRCm39)	E1999G	probably benign	Het
Stat3	T	C	11: 100,780,714 (GRCm39)		probably benign	Het
Usp25	T	C	16: 76,904,801 (GRCm39)	V789A	possibly damaging	Het
Zfp148	C	A	16: 33,317,589 (GRCm39)	Q712K	probably damaging	Het

Other mutations in B020004C17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:B020004C17Rik	APN	14	57,253,480 (GRCm39)	missense	probably damaging	0.96
IGL03396:B020004C17Rik	APN	14	57,253,993 (GRCm39)	missense	possibly damaging	0.61
R0664:B020004C17Rik	UTSW	14	57,254,225 (GRCm39)	missense	possibly damaging	0.56
R3977:B020004C17Rik	UTSW	14	57,254,645 (GRCm39)	missense	possibly damaging	0.78
R3978:B020004C17Rik	UTSW	14	57,254,645 (GRCm39)	missense	possibly damaging	0.78
R3979:B020004C17Rik	UTSW	14	57,254,645 (GRCm39)	missense	possibly damaging	0.78
R4415:B020004C17Rik	UTSW	14	57,254,874 (GRCm39)	makesense	probably null
R5290:B020004C17Rik	UTSW	14	57,254,036 (GRCm39)	missense	possibly damaging	0.94
R5651:B020004C17Rik	UTSW	14	57,252,689 (GRCm39)	start gained	probably benign
R5655:B020004C17Rik	UTSW	14	57,252,689 (GRCm39)	start gained	probably benign
R5736:B020004C17Rik	UTSW	14	57,254,823 (GRCm39)	missense	possibly damaging	0.66
R7368:B020004C17Rik	UTSW	14	57,254,773 (GRCm39)	missense	possibly damaging	0.95
R7759:B020004C17Rik	UTSW	14	57,254,242 (GRCm39)	missense	possibly damaging	0.96
R9299:B020004C17Rik	UTSW	14	57,254,230 (GRCm39)	missense	probably damaging	0.96
R9410:B020004C17Rik	UTSW	14	57,254,273 (GRCm39)	missense	possibly damaging	0.92
Z1177:B020004C17Rik	UTSW	14	57,252,717 (GRCm39)	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