Mutagenetix > Incidental Mutation

Incidental Mutation 'R5145:Rnf167'

395091

Institutional Source

Beutler Lab

Gene Symbol

Rnf167

Ensembl Gene

ENSMUSG00000040746

Gene Name

ring finger protein 167

Synonyms

0610010G05Rik, 5730408C10Rik

MMRRC Submission

042729-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R5145 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70538061-70542247 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 70540906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136219 (fasta)

Gene Model

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

AlphaFold

Q91XF4

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000037534

SMART Domains

Protein: ENSMUSP00000036472
Gene: ENSMUSG00000040746

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

noncoding transcript
Transcript: ENSMUST00000134804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143313

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

Predicted Effect

probably benign
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: 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: ENSMUST00000136383

SMART Domains

Protein: ENSMUSP00000120900
Gene: ENSMUSG00000014606

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

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (37/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	A	15: 11,285,962 (GRCm39)	G724R	probably damaging	Het
Adgrg7	T	A	16: 56,562,682 (GRCm39)	I552L	probably benign	Het
Ankrd11	A	G	8: 123,617,943 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,613,582 (GRCm39)	T88A	probably benign	Het
Col6a5	T	G	9: 105,811,444 (GRCm39)	I692L	unknown	Het
Cry2	T	C	2: 92,243,405 (GRCm39)	I479V	probably benign	Het
Ddx21	T	C	10: 62,423,318 (GRCm39)		probably null	Het
Efcab12	T	A	6: 115,800,238 (GRCm39)	I262F	probably damaging	Het
Eif2ak2	T	C	17: 79,183,633 (GRCm39)	D72G	possibly damaging	Het
Fry	T	C	5: 150,293,689 (GRCm39)	F461L	probably damaging	Het
Gm38706	G	A	6: 130,460,731 (GRCm39)		noncoding transcript	Het
Gm9772	C	T	17: 22,226,107 (GRCm39)	C59Y	probably damaging	Het
Meig1	T	C	2: 3,410,263 (GRCm39)	E79G	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mfsd2b	T	A	12: 4,915,908 (GRCm39)		probably benign	Het
Nfatc2	A	C	2: 168,431,987 (GRCm39)	I42S	probably benign	Het
Nlgn3	G	A	X: 100,361,891 (GRCm39)	V287I	probably benign	Het
Npy6r	C	T	18: 44,409,686 (GRCm39)	T369I	probably benign	Het
Or7a36	A	G	10: 78,820,143 (GRCm39)	E173G	probably benign	Het
Ptprb	A	G	10: 116,179,820 (GRCm39)	T1413A	probably benign	Het
Ptprc	A	G	1: 138,017,304 (GRCm39)	S624P	probably benign	Het
Pum3	A	G	19: 27,377,169 (GRCm39)	V441A	probably damaging	Het
Ranbp2	T	A	10: 58,315,860 (GRCm39)	D2193E	probably damaging	Het
Rbl1	A	T	2: 157,017,397 (GRCm39)		probably benign	Het
Sdr9c7	T	C	10: 127,738,259 (GRCm39)	V179A	probably damaging	Het
Sema3c	A	G	5: 17,932,615 (GRCm39)	N706S	possibly damaging	Het
Stt3a	T	C	9: 36,646,762 (GRCm39)	Y617C	probably damaging	Het
Tdrd6	T	A	17: 43,936,966 (GRCm39)	S1361C	probably damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Tti1	G	A	2: 157,850,432 (GRCm39)	A269V	probably benign	Het
Ugt2a1	A	G	5: 87,633,886 (GRCm39)		probably null	Het
Vmn2r10	T	C	5: 109,143,761 (GRCm39)	T730A	possibly 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
IGL03407:Rnf167	APN	11	70,541,879 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCTATTTTACCTGGCTTGAGG -3'
(R):5'- TCCTTCAAGATGAGGCCAGC -3'

Sequencing Primer
(F):5'- GAGGTTGTGTCTCTCTCTCCTCAG -3'
(R):5'- CTAGGAGAAAGGCCCCTTCTC -3'

Posted On

2016-06-21