Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03407:Rnf167'

421645

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf167

Ensembl Gene

ENSMUSG00000040746

Gene Name

ring finger protein 167

Synonyms

0610010G05Rik, 5730408C10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

IGL03407

Quality Score

Status

Chromosome

Chromosomal Location

70538061-70542247 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 70541879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014750] [ENSMUST00000018437] [ENSMUST00000037534] [ENSMUST00000108549] [ENSMUST00000136383] [ENSMUST00000141695] [ENSMUST00000152160] [ENSMUST00000139638] [ENSMUST00000178254]

AlphaFold

Q91XF4

Predicted Effect

probably null
Transcript: ENSMUST00000014750

SMART Domains

Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	18	112	1.3e-22	PFAM
Pfam:Mito_carr	115	213	2.6e-19	PFAM
Pfam:Mito_carr	216	311	5.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000018437

SMART Domains

Protein: ENSMUSP00000018437
Gene: ENSMUSG00000018293

Domain	Start	End	E-Value	Type
PROF	2	140	4.46e-58	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037534
AA Change: D295Y

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036472
Gene: ENSMUSG00000040746
AA Change: D295Y

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PA	53	150	1.4e-14	PFAM
transmembrane domain	172	194	N/A	INTRINSIC
RING	230	271	2.65e-9	SMART
low complexity region	278	303	N/A	INTRINSIC
low complexity region	332	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108549

SMART Domains

Protein: ENSMUSP00000104189
Gene: ENSMUSG00000018293

Domain	Start	End	E-Value	Type
Pfam:Profilin	3	109	7e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131642

Predicted Effect

probably null
Transcript: ENSMUST00000136383

SMART Domains

Protein: ENSMUSP00000120900
Gene: ENSMUSG00000014606

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	75	9.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151034

Predicted Effect

probably benign
Transcript: ENSMUST00000141695

SMART Domains

Protein: ENSMUSP00000121511
Gene: ENSMUSG00000040746

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152160

SMART Domains

Protein: ENSMUSP00000115057
Gene: ENSMUSG00000040746

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000139638

SMART Domains

Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	80	7.4e-17	PFAM
Pfam:Mito_carr	83	181	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178254

SMART Domains

Protein: ENSMUSP00000136219
Gene: ENSMUSG00000018293

Domain	Start	End	E-Value	Type
Pfam:Profilin	3	54	1.4e-13	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,904,111 (GRCm39)	V198A	probably benign	Het
Acot3	A	T	12: 84,105,415 (GRCm39)	D294V	probably damaging	Het
Dnajc10	T	C	2: 80,176,985 (GRCm39)	Y647H	probably damaging	Het
Eml6	G	A	11: 29,856,330 (GRCm39)	L67F	probably damaging	Het
Fbxw8	A	G	5: 118,280,741 (GRCm39)	C139R	probably damaging	Het
Fscb	G	T	12: 64,520,269 (GRCm39)	A399D	probably damaging	Het
Gm21726	T	C	13: 90,731,760 (GRCm39)		noncoding transcript	Het
Lama2	A	T	10: 27,223,017 (GRCm39)	V423D	probably damaging	Het
Mctp2	A	T	7: 71,861,400 (GRCm39)	I415N	probably benign	Het
Myh13	A	G	11: 67,242,978 (GRCm39)	T964A	probably damaging	Het
Ncf4	A	G	15: 78,138,981 (GRCm39)		probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Or3a1d	G	T	11: 74,238,371 (GRCm39)	T13K	possibly damaging	Het
Or51m1	A	T	7: 103,578,158 (GRCm39)	N43Y	probably damaging	Het
Plch2	A	T	4: 155,074,255 (GRCm39)	V870E	probably damaging	Het
Prss55	A	T	14: 64,314,539 (GRCm39)	D210E	probably damaging	Het
Rad51ap2	A	G	12: 11,507,198 (GRCm39)	I373M	possibly damaging	Het
Rbm12	C	A	2: 155,939,484 (GRCm39)	G263*	probably null	Het
Scn10a	A	G	9: 119,477,237 (GRCm39)	I715T	probably damaging	Het
Spata31f1a	A	T	4: 42,850,528 (GRCm39)	W543R	probably benign	Het
St8sia1	T	C	6: 142,859,775 (GRCm39)	N118S	possibly damaging	Het
Tas1r3	A	G	4: 155,946,439 (GRCm39)		probably null	Het
Thbs2	A	G	17: 14,893,535 (GRCm39)	S882P	probably benign	Het
Tmem25	A	G	9: 44,707,636 (GRCm39)	S220P	probably damaging	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Trex1	C	T	9: 108,887,395 (GRCm39)	G199S	probably damaging	Het
Ttn	T	C	2: 76,544,545 (GRCm39)	I32814V	probably damaging	Het
Vmn2r15	T	A	5: 109,434,185 (GRCm39)	R840*	probably null	Het
Vps13b	A	T	15: 35,640,012 (GRCm39)	Q1294L	possibly damaging	Het
Zdhhc7	T	C	8: 120,812,131 (GRCm39)	N164D	probably damaging	Het

Other mutations in Rnf167

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02336:Rnf167	APN	11	70,540,952 (GRCm39)	missense	probably benign
R0366:Rnf167	UTSW	11	70,540,143 (GRCm39)	nonsense	probably null
R0415:Rnf167	UTSW	11	70,540,525 (GRCm39)	missense	probably damaging	0.99
R1799:Rnf167	UTSW	11	70,540,838 (GRCm39)	missense	probably benign	0.00
R1869:Rnf167	UTSW	11	70,540,965 (GRCm39)	missense	possibly damaging	0.86
R2291:Rnf167	UTSW	11	70,540,129 (GRCm39)	missense	probably damaging	1.00
R3547:Rnf167	UTSW	11	70,540,507 (GRCm39)	missense	possibly damaging	0.46
R4418:Rnf167	UTSW	11	70,538,743 (GRCm39)	missense	probably damaging	1.00
R4798:Rnf167	UTSW	11	70,540,961 (GRCm39)	missense	probably benign	0.32
R4973:Rnf167	UTSW	11	70,540,701 (GRCm39)	unclassified	probably benign
R5145:Rnf167	UTSW	11	70,540,906 (GRCm39)	unclassified	probably benign
R5585:Rnf167	UTSW	11	70,540,308 (GRCm39)	missense	probably damaging	0.99
R5862:Rnf167	UTSW	11	70,541,918 (GRCm39)	missense	probably damaging	0.99
R6576:Rnf167	UTSW	11	70,540,588 (GRCm39)	missense	possibly damaging	0.67
R7555:Rnf167	UTSW	11	70,541,623 (GRCm39)	missense	probably benign	0.19
R7993:Rnf167	UTSW	11	70,540,821 (GRCm39)	missense	probably benign	0.02
R9443:Rnf167	UTSW	11	70,540,777 (GRCm39)	missense	probably damaging	0.98
R9675:Rnf167	UTSW	11	70,541,032 (GRCm39)	missense	possibly damaging	0.73
Z1186:Rnf167	UTSW	11	70,541,646 (GRCm39)	frame shift	probably null
Z1187:Rnf167	UTSW	11	70,541,646 (GRCm39)	frame shift	probably null
Z1188:Rnf167	UTSW	11	70,541,646 (GRCm39)	frame shift	probably null
Z1189:Rnf167	UTSW	11	70,541,646 (GRCm39)	frame shift	probably null
Z1190:Rnf167	UTSW	11	70,541,646 (GRCm39)	frame shift	probably null
Z1191:Rnf167	UTSW	11	70,541,646 (GRCm39)	frame shift	probably null
Z1192:Rnf167	UTSW	11	70,541,646 (GRCm39)	frame shift	probably null

Posted On

2016-08-02