Mutagenetix > Incidental Mutation

Incidental Mutation 'R0038:Rnf168'

32842

Institutional Source

Beutler Lab

Gene Symbol

Rnf168

Ensembl Gene

ENSMUSG00000014074

Gene Name

ring finger protein 168

Synonyms

3110001H15Rik

MMRRC Submission

038332-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.913) question?

Stock #

R0038 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

32096277-32120252 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32117813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 458 (V458A)

Ref Sequence

ENSEMBL: ENSMUSP00000126484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014218] [ENSMUST00000171474]

AlphaFold

Q80XJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000014218
AA Change: V456A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
AA Change: V456A

Domain	Start	End	E-Value	Type
RING	16	54	8.23e-6	SMART
coiled coil region	114	184	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171474
AA Change: V458A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
AA Change: V458A

Domain	Start	End	E-Value	Type
RING	18	56	8.23e-6	SMART
coiled coil region	116	186	N/A	INTRINSIC
low complexity region	210	223	N/A	INTRINSIC

Meta Mutation Damage Score

0.0742

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit immunodeficient, increased radiosensitivity and age-dependent reduction in male infertility. [provided by MGI curators]

Allele List at MGI

All alleles(56) : Gene trapped(56)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,863,823 (GRCm39)		probably benign	Het
Ankrd28	A	T	14: 31,429,992 (GRCm39)	M892K	probably damaging	Het
Arhgef25	T	C	10: 127,022,734 (GRCm39)		probably benign	Het
Arl9	G	A	5: 77,154,322 (GRCm39)	E17K	probably benign	Het
Bbs9	G	A	9: 22,415,390 (GRCm39)	V105I	probably benign	Het
Celsr1	A	T	15: 85,813,620 (GRCm39)	N1997K	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cldn8	A	G	16: 88,359,922 (GRCm39)	M1T	probably null	Het
Clec11a	A	G	7: 43,955,906 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col19a1	A	T	1: 24,598,825 (GRCm39)	L56Q	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp2b10	G	A	7: 25,614,287 (GRCm39)	A254T	probably benign	Het
Ddx39a	T	C	8: 84,449,127 (GRCm39)	L305P	probably damaging	Het
Depdc5	A	G	5: 33,026,197 (GRCm39)	E60G	probably benign	Het
Eif2ak2	T	A	17: 79,171,384 (GRCm39)	M340L	probably benign	Het
Etl4	A	T	2: 20,748,385 (GRCm39)	H39L	probably damaging	Het
Fat3	T	C	9: 15,826,306 (GRCm39)	T4549A	probably damaging	Het
Fbxw28	A	T	9: 109,167,608 (GRCm39)	W50R	probably damaging	Het
Ggt7	T	C	2: 155,344,701 (GRCm39)	D214G	probably benign	Het
Gramd1b	G	A	9: 40,228,822 (GRCm39)	T252M	probably damaging	Het
Grin1	T	C	2: 25,187,471 (GRCm39)	N613S	probably null	Het
Hcrtr2	A	T	9: 76,166,963 (GRCm39)	S125T	probably benign	Het
Hr	T	C	14: 70,805,525 (GRCm39)	L1091P	probably damaging	Het
Htr2a	T	G	14: 74,943,687 (GRCm39)	S422R	probably benign	Het
Ighmbp2	A	G	19: 3,312,097 (GRCm39)	S886P	probably damaging	Het
Iqcg	C	A	16: 32,866,012 (GRCm39)	L110F	probably benign	Het
Kirrel3	T	A	9: 34,823,066 (GRCm39)		probably null	Het
Kremen1	A	C	11: 5,157,703 (GRCm39)		probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Lin52	C	G	12: 84,576,499 (GRCm39)	L111V	probably damaging	Het
Myh15	T	C	16: 48,891,504 (GRCm39)		probably benign	Het
Ncor1	A	G	11: 62,283,377 (GRCm39)	F437L	probably damaging	Het
Nlrp1b	A	G	11: 71,062,997 (GRCm39)	S685P	possibly damaging	Het
Oog4	T	C	4: 143,165,514 (GRCm39)	D211G	probably benign	Het
Oscar	A	G	7: 3,619,072 (GRCm39)	V2A	probably benign	Het
Pdzd8	A	G	19: 59,288,028 (GRCm39)	I1124T	possibly damaging	Het
Pgm3	A	T	9: 86,446,726 (GRCm39)		probably benign	Het
Pnpla5	A	G	15: 84,006,714 (GRCm39)	Y90H	probably damaging	Het
Polr1b	C	T	2: 128,957,588 (GRCm39)	R548*	probably null	Het
Ptprg	T	A	14: 12,213,710 (GRCm38)	M1026K	probably damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rapgef2	T	C	3: 78,976,703 (GRCm39)	I1368V	probably benign	Het
Rnf32	T	C	5: 29,410,652 (GRCm39)		probably benign	Het
Sclt1	T	C	3: 41,583,943 (GRCm39)		probably benign	Het
Serpina12	A	G	12: 104,004,216 (GRCm39)	F139L	probably damaging	Het
Sos2	T	G	12: 69,643,467 (GRCm39)	Q971P	probably damaging	Het
Stag3	T	A	5: 138,299,298 (GRCm39)		probably null	Het
Stard5	T	C	7: 83,285,951 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,526,313 (GRCm39)	C857S	probably benign	Het
Suclg1	A	G	6: 73,237,486 (GRCm39)	E77G	probably benign	Het
Trpm7	A	G	2: 126,637,388 (GRCm39)	S204P	probably damaging	Het
Ush2a	G	T	1: 188,358,809 (GRCm39)	G2112C	probably benign	Het
Vmn2r15	T	A	5: 109,441,010 (GRCm39)	T283S	possibly damaging	Het
Wdr6	A	T	9: 108,450,168 (GRCm39)	V1120D	probably damaging	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	probably benign	Het

Other mutations in Rnf168

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02997:Rnf168	APN	16	32,104,239 (GRCm39)	missense	probably damaging	1.00
IGL03108:Rnf168	APN	16	32,097,099 (GRCm39)	missense	possibly damaging	0.79
P0021:Rnf168	UTSW	16	32,117,705 (GRCm39)	missense	probably damaging	0.96
R0038:Rnf168	UTSW	16	32,117,813 (GRCm39)	missense	probably benign	0.05
R0040:Rnf168	UTSW	16	32,096,991 (GRCm39)	splice site	probably null
R0049:Rnf168	UTSW	16	32,117,287 (GRCm39)	missense	possibly damaging	0.56
R0049:Rnf168	UTSW	16	32,117,287 (GRCm39)	missense	possibly damaging	0.56
R0760:Rnf168	UTSW	16	32,117,204 (GRCm39)	critical splice acceptor site	probably null
R1188:Rnf168	UTSW	16	32,117,477 (GRCm39)	missense	probably benign	0.00
R1386:Rnf168	UTSW	16	32,117,781 (GRCm39)	missense	probably damaging	1.00
R1754:Rnf168	UTSW	16	32,117,942 (GRCm39)	missense	probably benign
R2118:Rnf168	UTSW	16	32,097,036 (GRCm39)	missense	probably damaging	1.00
R2122:Rnf168	UTSW	16	32,097,036 (GRCm39)	missense	probably damaging	1.00
R2124:Rnf168	UTSW	16	32,097,036 (GRCm39)	missense	probably damaging	1.00
R2520:Rnf168	UTSW	16	32,097,221 (GRCm39)	missense	probably benign	0.17
R2852:Rnf168	UTSW	16	32,101,192 (GRCm39)	missense	probably damaging	0.99
R3418:Rnf168	UTSW	16	32,118,010 (GRCm39)	missense	probably benign	0.00
R3419:Rnf168	UTSW	16	32,118,010 (GRCm39)	missense	probably benign	0.00
R4886:Rnf168	UTSW	16	32,118,014 (GRCm39)	missense	probably benign	0.00
R5335:Rnf168	UTSW	16	32,117,402 (GRCm39)	missense	possibly damaging	0.78
R5738:Rnf168	UTSW	16	32,101,192 (GRCm39)	missense	probably damaging	0.99
R6570:Rnf168	UTSW	16	32,108,028 (GRCm39)	missense	probably benign	0.00
R7165:Rnf168	UTSW	16	32,101,179 (GRCm39)	missense	probably benign	0.38
R7529:Rnf168	UTSW	16	32,117,732 (GRCm39)	missense	probably damaging	0.98
R7556:Rnf168	UTSW	16	32,117,863 (GRCm39)	missense	probably damaging	1.00
R9338:Rnf168	UTSW	16	32,110,801 (GRCm39)	critical splice donor site	probably null
R9796:Rnf168	UTSW	16	32,117,872 (GRCm39)	missense	probably damaging	1.00
R9800:Rnf168	UTSW	16	32,117,386 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TTCTCCTCAGACCTGCCTGGAAAC -3'
(R):5'- GGGCTCCCAATAGTCACCTTTTGTG -3'

Sequencing Primer
(F):5'- GGACCTAGAGCCACAGTTTTTTAC -3'
(R):5'- AATAGTCACCTTTTGTGTTCCTCG -3'

Posted On

2013-05-09