Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02637:Rnf135'

301567

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf135

Ensembl Gene

ENSMUSG00000020707

Gene Name

ring finger protein 135

Synonyms

U 2-3-0, 0610037N03Rik, MGC13061, 2410006N06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02637

Quality Score

Status

Chromosome

Chromosomal Location

80074677-80090583 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80089704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 347 (K347E)

Ref Sequence

ENSEMBL: ENSMUSP00000017839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017839]

AlphaFold

Q9CWS1

Predicted Effect

probably benign
Transcript: ENSMUST00000017839
AA Change: K347E

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000017839
Gene: ENSMUSG00000020707
AA Change: K347E

Domain	Start	End	E-Value	Type
RING	21	66	2.76e-7	SMART
low complexity region	95	112	N/A	INTRINSIC
PRY	242	294	1.12e-2	SMART
Pfam:SPRY	297	414	7.7e-12	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,309,907 (GRCm39)	Y435C	probably damaging	Het
Adgrb1	C	T	15: 74,460,143 (GRCm39)		probably benign	Het
Ampd1	T	C	3: 103,002,199 (GRCm39)		probably benign	Het
Camk1g	G	A	1: 193,030,696 (GRCm39)	P338S	probably benign	Het
Cog3	T	C	14: 75,959,636 (GRCm39)		probably benign	Het
Crat	A	G	2: 30,296,401 (GRCm39)	V355A	probably benign	Het
Ctla2a	T	A	13: 61,083,899 (GRCm39)		probably benign	Het
Dnaaf9	C	A	2: 130,656,227 (GRCm39)		probably benign	Het
Efhb	A	G	17: 53,756,580 (GRCm39)	I357T	probably benign	Het
Fh1	T	C	1: 175,437,332 (GRCm39)	M256V	probably benign	Het
Gabrg3	A	G	7: 56,384,775 (GRCm39)	I262T	probably damaging	Het
Gata2	C	T	6: 88,181,558 (GRCm39)		probably benign	Het
Gm6356	A	G	14: 6,970,926 (GRCm38)	V178A	possibly damaging	Het
Hacl1	T	C	14: 31,362,458 (GRCm39)	E63G	probably damaging	Het
Hid1	A	T	11: 115,241,421 (GRCm39)	I623N	probably damaging	Het
Hivep2	A	G	10: 14,006,452 (GRCm39)	K1017E	possibly damaging	Het
Ifi208	C	T	1: 173,506,508 (GRCm39)	T97I	probably benign	Het
Ighg1	T	C	12: 113,293,132 (GRCm39)	H186R	unknown	Het
Igkv8-26	T	C	6: 70,170,642 (GRCm39)	S78P	probably damaging	Het
Itih3	T	C	14: 30,637,617 (GRCm39)	N514S	probably benign	Het
Kcnj16	A	T	11: 110,916,439 (GRCm39)	D367V	probably benign	Het
Klhl23	A	T	2: 69,659,258 (GRCm39)	R428*	probably null	Het
Lgmn	T	C	12: 102,366,485 (GRCm39)	E216G	probably damaging	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Lrp5	C	T	19: 3,680,269 (GRCm39)	G405D	probably benign	Het
Lrrc74a	C	T	12: 86,788,521 (GRCm39)	R53*	probably null	Het
Lsm12	G	A	11: 102,054,948 (GRCm39)	R123C	probably benign	Het
Marchf5	T	A	19: 37,198,033 (GRCm39)		probably benign	Het
Mark3	C	A	12: 111,559,090 (GRCm39)	A44D	probably damaging	Het
Mndal	T	A	1: 173,685,003 (GRCm39)	N522I	possibly damaging	Het
Nbeal2	G	T	9: 110,455,045 (GRCm39)	R2611S	possibly damaging	Het
Nlrp4d	T	C	7: 10,116,482 (GRCm39)		noncoding transcript	Het
Npnt	T	A	3: 132,590,271 (GRCm39)	I507F	possibly damaging	Het
Or51a7	G	A	7: 102,622,250 (GRCm39)		probably benign	Het
Pde4a	T	A	9: 21,112,628 (GRCm39)	L91Q	probably damaging	Het
Pdzd2	C	T	15: 12,385,720 (GRCm39)	V1017M	probably benign	Het
Pkhd1l1	A	G	15: 44,427,720 (GRCm39)	N3259S	probably damaging	Het
Plxnb2	A	T	15: 89,048,260 (GRCm39)	H683Q	possibly damaging	Het
Reck	T	A	4: 43,898,009 (GRCm39)	S96T	probably damaging	Het
Ro60	A	G	1: 143,646,526 (GRCm39)	V73A	probably damaging	Het
Rxfp2	A	G	5: 149,979,378 (GRCm39)	D246G	probably damaging	Het
Sdk1	C	T	5: 142,080,327 (GRCm39)	T1273I	probably damaging	Het
Slc12a8	A	T	16: 33,355,330 (GRCm39)	M49L	probably benign	Het
Slc5a11	A	T	7: 122,859,728 (GRCm39)		probably null	Het
Surf2	A	G	2: 26,809,790 (GRCm39)	K247E	probably damaging	Het
Sys1	G	A	2: 164,303,312 (GRCm39)	V9M	possibly damaging	Het
Tcf4	G	A	18: 69,480,421 (GRCm39)	D18N	probably damaging	Het
Tmc6	A	T	11: 117,658,416 (GRCm39)	V773D	possibly damaging	Het
Trappc13	T	C	13: 104,286,570 (GRCm39)	Q229R	probably benign	Het
Xkr5	T	C	8: 18,984,099 (GRCm39)	E481G	probably benign	Het
Xpo5	C	A	17: 46,546,905 (GRCm39)	D885E	probably damaging	Het

Other mutations in Rnf135

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Rnf135	APN	11	80,080,081 (GRCm39)	missense	probably benign	0.13
IGL03179:Rnf135	APN	11	80,084,837 (GRCm39)	missense	possibly damaging	0.95
R0027:Rnf135	UTSW	11	80,084,768 (GRCm39)	missense	probably benign	0.10
R0282:Rnf135	UTSW	11	80,084,784 (GRCm39)	missense	probably damaging	0.99
R0496:Rnf135	UTSW	11	80,074,776 (GRCm39)	missense	probably damaging	1.00
R1680:Rnf135	UTSW	11	80,087,707 (GRCm39)	missense	possibly damaging	0.70
R2173:Rnf135	UTSW	11	80,080,066 (GRCm39)	missense	probably benign	0.36
R3721:Rnf135	UTSW	11	80,087,743 (GRCm39)	missense	probably benign	0.05
R3722:Rnf135	UTSW	11	80,087,743 (GRCm39)	missense	probably benign	0.05
R4089:Rnf135	UTSW	11	80,089,872 (GRCm39)	missense	probably damaging	1.00
R4793:Rnf135	UTSW	11	80,087,775 (GRCm39)	critical splice donor site	probably null
R4901:Rnf135	UTSW	11	80,089,662 (GRCm39)	missense	probably damaging	1.00
R5640:Rnf135	UTSW	11	80,084,733 (GRCm39)	missense	probably benign	0.12
R5826:Rnf135	UTSW	11	80,089,912 (GRCm39)	missense	probably damaging	1.00
R6225:Rnf135	UTSW	11	80,080,053 (GRCm39)	missense	possibly damaging	0.91
R7096:Rnf135	UTSW	11	80,080,051 (GRCm39)	missense	probably benign	0.19
R7532:Rnf135	UTSW	11	80,089,732 (GRCm39)	missense	probably benign	0.03
R8255:Rnf135	UTSW	11	80,084,713 (GRCm39)	missense	probably benign	0.01
R8806:Rnf135	UTSW	11	80,089,762 (GRCm39)	missense	probably damaging	1.00
R8889:Rnf135	UTSW	11	80,074,957 (GRCm39)	missense	probably benign	0.01
R8892:Rnf135	UTSW	11	80,074,957 (GRCm39)	missense	probably benign	0.01
R9553:Rnf135	UTSW	11	80,074,758 (GRCm39)	missense	probably benign	0.09

Posted On

2015-04-16