Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03179:Rnf135'

412136

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 #

IGL03179

Quality Score

Status

Chromosome

Chromosomal Location

80074677-80090583 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80084837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 203 (S203R)

Ref Sequence

ENSEMBL: ENSMUSP00000017839 (fasta)

Gene Model

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

AlphaFold

Q9CWS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017839
AA Change: S203R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000017839
Gene: ENSMUSG00000020707
AA Change: S203R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134909

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	A	14: 78,745,180 (GRCm39)	H1736L	probably benign	Het
App	A	G	16: 84,879,735 (GRCm39)	C133R	probably damaging	Het
Atxn7l2	G	T	3: 108,110,963 (GRCm39)	C524*	probably null	Het
Cckbr	T	C	7: 105,084,130 (GRCm39)	V288A	probably benign	Het
Ccr1l1	T	C	9: 123,777,787 (GRCm39)	Y220C	probably damaging	Het
Cdc42se2	A	T	11: 54,614,417 (GRCm39)	F47I	possibly damaging	Het
Cep290	T	A	10: 100,403,950 (GRCm39)	I2317N	possibly damaging	Het
Chrnd	T	C	1: 87,123,502 (GRCm39)	S347P	probably damaging	Het
Clcn5	T	A	X: 7,029,565 (GRCm39)		probably null	Het
D6Wsu163e	A	G	6: 126,927,074 (GRCm39)	D187G	probably damaging	Het
Dnajc13	T	A	9: 104,044,634 (GRCm39)	I1852F	probably benign	Het
Ecpas	C	T	4: 58,832,777 (GRCm39)	G861D	probably damaging	Het
Fcnb	A	G	2: 27,966,646 (GRCm39)	S296P	possibly damaging	Het
Fut2	C	T	7: 45,300,073 (GRCm39)	R233K	probably benign	Het
Gm21985	G	A	2: 112,188,900 (GRCm39)	V1078I	possibly damaging	Het
Gpc3	A	T	X: 51,486,090 (GRCm39)		probably benign	Het
Krt10	A	G	11: 99,280,044 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,781 (GRCm39)	E370G	probably damaging	Het
Myo5c	A	T	9: 75,163,148 (GRCm39)	I326F	possibly damaging	Het
Neb	A	T	2: 52,066,653 (GRCm39)	L5906Q	probably damaging	Het
Nrdc	A	T	4: 108,903,888 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,381,938 (GRCm39)	N17S	possibly damaging	Het
Or51f2	T	C	7: 102,527,279 (GRCm39)		probably benign	Het
Or6s1	T	C	14: 51,308,467 (GRCm39)	I128V	probably benign	Het
P2rx7	A	G	5: 122,811,763 (GRCm39)	Y358C	possibly damaging	Het
Pex10	A	C	4: 155,152,354 (GRCm39)	I61L	probably benign	Het
Phax	T	C	18: 56,713,364 (GRCm39)	F248L	probably damaging	Het
Phtf2	A	T	5: 20,987,397 (GRCm39)	D366E	probably damaging	Het
Pnpo	A	G	11: 96,830,085 (GRCm39)	Y205H	possibly damaging	Het
Pparg	T	A	6: 115,416,833 (GRCm39)	W9R	probably damaging	Het
Ppp4r3c2	G	A	X: 88,796,434 (GRCm39)	G89S	possibly damaging	Het
Prex1	C	T	2: 166,427,114 (GRCm39)	S867N	probably benign	Het
Pyroxd2	T	A	19: 42,736,001 (GRCm39)	N59I	possibly damaging	Het
Sall1	T	A	8: 89,758,289 (GRCm39)	N605I	probably benign	Het
Scara3	C	T	14: 66,168,603 (GRCm39)	R338H	probably damaging	Het
Slc25a14	T	C	X: 47,726,317 (GRCm39)	S152P	probably benign	Het
Strip1	A	T	3: 107,527,571 (GRCm39)	F436I	probably damaging	Het
Tgfa	T	C	6: 86,248,403 (GRCm39)	L135P	probably benign	Het
Tgif1	T	C	17: 71,151,942 (GRCm39)	Q170R	possibly damaging	Het
Tmc2	G	A	2: 130,071,107 (GRCm39)	E279K	probably damaging	Het
Tnks	G	T	8: 35,315,824 (GRCm39)	N987K	probably benign	Het
Traf3ip3	T	C	1: 192,876,676 (GRCm39)	E209G	probably damaging	Het
Vmn2r73	T	A	7: 85,519,468 (GRCm39)	I497L	probably benign	Het
Wrn	C	A	8: 33,800,734 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,720,086 (GRCm39)	I193V	possibly 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
IGL02637:Rnf135	APN	11	80,089,704 (GRCm39)	missense	probably benign	0.28
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

2016-08-02