Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Rnf168'

15462

Institutional Source

Beutler Lab

Gene Symbol

Rnf168

Ensembl Gene

ENSMUSG00000014074

Gene Name

ring finger protein 168

Synonyms

3110001H15Rik

MMRRC Submission

038334-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.913) question?

Stock #

R0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

32096277-32120252 bp(+) (GRCm39)

Type of Mutation

splice site (3392 bp from exon)

DNA Base Change (assembly)

T to A at 32096991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014218] [ENSMUST00000093183] [ENSMUST00000155649] [ENSMUST00000171474]

AlphaFold

Q80XJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000014218
AA Change: M20K

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
AA Change: M20K

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 null
Transcript: ENSMUST00000093183

SMART Domains

Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345

Domain	Start	End	E-Value	Type
Pfam:DUF4547	19	214	5e-120	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155649

SMART Domains

Protein: ENSMUSP00000115807
Gene: ENSMUSG00000014074

Domain	Start	End	E-Value	Type
RING	16	54	8.23e-6	SMART
coiled coil region	114	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171474
AA Change: M22K

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
AA Change: M22K

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

0.4373

Coding Region Coverage

1x: 84.2%
3x: 77.3%
10x: 61.4%
20x: 43.8%

Validation Efficiency

96% (74/77)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,622,165 (GRCm39)	L356R	possibly damaging	Het
Antxr2	G	A	5: 98,086,284 (GRCm39)	T441I	possibly damaging	Het
Apcs	A	G	1: 172,722,023 (GRCm39)	Y108H	probably benign	Het
Arpp21	T	C	9: 111,976,477 (GRCm39)		probably benign	Het
Atcay	C	T	10: 81,046,353 (GRCm39)		probably null	Het
Bahcc1	A	G	11: 120,159,196 (GRCm39)	D141G	probably damaging	Het
Cacng5	A	T	11: 107,775,336 (GRCm39)	L11Q	probably damaging	Het
Ccdc73	T	C	2: 104,822,429 (GRCm39)	S793P	probably damaging	Het
Ceacam10	A	G	7: 24,477,689 (GRCm39)	Y68C	probably damaging	Het
Csmd3	G	A	15: 47,497,212 (GRCm39)	P3062S	probably damaging	Het
Dctn4	A	G	18: 60,677,114 (GRCm39)	N145D	possibly damaging	Het
Dusp12	A	G	1: 170,708,226 (GRCm39)	Y164H	probably damaging	Het
Fat1	A	G	8: 45,479,441 (GRCm39)	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,691,371 (GRCm39)	T671A	probably damaging	Het
Fndc3b	T	A	3: 27,610,266 (GRCm39)		probably null	Het
Gprc6a	T	A	10: 51,491,080 (GRCm39)	K819*	probably null	Het
Gucy2g	T	A	19: 55,205,734 (GRCm39)	T709S	possibly damaging	Het
Gxylt1	A	T	15: 93,152,436 (GRCm39)		probably benign	Het
Idh2	A	G	7: 79,747,570 (GRCm39)	S317P	probably damaging	Het
Ifi30	T	C	8: 71,216,421 (GRCm39)		probably null	Het
Ifna16	G	A	4: 88,594,867 (GRCm39)	A76V	probably benign	Het
Itpr2	C	T	6: 146,246,638 (GRCm39)	E1127K	probably damaging	Het
Kank4	A	G	4: 98,667,457 (GRCm39)	V330A	probably benign	Het
Kri1	T	C	9: 21,192,401 (GRCm39)	Y131C	probably damaging	Het
Krt71	T	A	15: 101,646,868 (GRCm39)	H280L	possibly damaging	Het
Lox	A	T	18: 52,653,898 (GRCm39)	H399Q	possibly damaging	Het
Mapt	A	G	11: 104,196,224 (GRCm39)	M446V	probably damaging	Het
Mpp7	A	T	18: 7,403,180 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,461,708 (GRCm39)	V1447A	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo1b	A	T	1: 51,821,148 (GRCm39)	I451N	probably damaging	Het
Nubp1	A	G	16: 10,238,981 (GRCm39)	T199A	probably damaging	Het
Olfml2b	A	G	1: 170,496,320 (GRCm39)	H317R	probably benign	Het
Pard3b	A	T	1: 62,676,979 (GRCm39)	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,661,665 (GRCm39)	D536G	probably damaging	Het
Pira6	A	G	7: 4,284,482 (GRCm39)		noncoding transcript	Het
Pkhd1l1	T	A	15: 44,437,021 (GRCm39)	Y3460N	probably damaging	Het
Plxna2	G	T	1: 194,326,204 (GRCm39)	R46L	probably benign	Het
Rpl14	C	G	9: 120,401,167 (GRCm39)	F3L	possibly damaging	Het
Scara5	C	T	14: 66,000,166 (GRCm39)		probably benign	Het
Sh3rf1	T	A	8: 61,782,286 (GRCm39)	Y143N	possibly damaging	Het
Slc4a8	T	A	15: 100,687,727 (GRCm39)	I288N	probably damaging	Het
Synpr	G	A	14: 13,563,024 (GRCm38)	A86T	probably damaging	Het
Ttc38	C	A	15: 85,725,690 (GRCm39)	F184L	probably damaging	Het
Wdpcp	A	G	11: 21,661,638 (GRCm39)	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,743,678 (GRCm39)	A483T	probably benign	Het
Zfp106	C	A	2: 120,362,094 (GRCm39)	K1008N	probably damaging	Het
Zfp68	G	A	5: 138,606,041 (GRCm39)	T94I	probably benign	Het
Zfp867	C	T	11: 59,354,691 (GRCm39)	A213T	possibly damaging	Het
Zkscan3	A	T	13: 21,579,090 (GRCm39)		probably null	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
R0038:Rnf168	UTSW	16	32,117,813 (GRCm39)	missense	probably benign	0.05
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

Posted On

2012-12-21