Mutagenetix > Incidental Mutation

Incidental Mutation 'R8806:Rnf135'

672084

Institutional Source

Beutler Lab

Gene Symbol

Rnf135

Ensembl Gene

ENSMUSG00000020707

Gene Name

ring finger protein 135

Synonyms

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

MMRRC Submission

068612-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80183851-80199757 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80198936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 366 (D366G)

Ref Sequence

ENSEMBL: ENSMUSP00000017839 (fasta)

Gene Model

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

AlphaFold

Q9CWS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000017839
AA Change: D366G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017839
Gene: ENSMUSG00000020707
AA Change: D366G

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,261 (GRCm38)	D198G	probably benign	Het
Abca1	T	C	4: 53,084,520 (GRCm38)	M586V	probably benign	Het
Adam6b	G	A	12: 113,491,798 (GRCm38)	R745H	possibly damaging	Het
Afg3l1	A	G	8: 123,493,918 (GRCm38)	D462G	probably damaging	Het
Anapc1	T	A	2: 128,622,413 (GRCm38)	Q1721L	possibly damaging	Het
Arhgap11a	T	C	2: 113,834,762 (GRCm38)	Y497C	possibly damaging	Het
Bcl7b	T	G	5: 135,179,970 (GRCm38)	S96A	possibly damaging	Het
Birc6	T	C	17: 74,642,316 (GRCm38)	V3111A	probably damaging	Het
Cbx1	A	G	11: 96,801,557 (GRCm38)	D90G	possibly damaging	Het
Ccdc105	A	G	10: 78,752,472 (GRCm38)	V168A	probably damaging	Het
Cdkl3	T	C	11: 52,032,468 (GRCm38)	F524S	possibly damaging	Het
Cops7b	G	A	1: 86,589,309 (GRCm38)	G44R	probably damaging	Het
D130043K22Rik	A	G	13: 24,899,635 (GRCm38)	S1028G	probably benign	Het
Decr1	T	A	4: 15,945,351 (GRCm38)	M1L	probably benign	Het
Dmtn	T	C	14: 70,614,948 (GRCm38)	I167V	probably benign	Het
Dnah9	A	G	11: 65,859,483 (GRCm38)	L3932P	probably damaging	Het
Ece1	T	A	4: 137,945,141 (GRCm38)	I365N	probably damaging	Het
Exo5	T	C	4: 120,922,405 (GRCm38)	T88A	probably benign	Het
Frem3	T	C	8: 80,663,435 (GRCm38)	Y1772H	probably benign	Het
Gm11639	T	A	11: 105,037,869 (GRCm38)	M4815K	probably benign	Het
Gm5160	A	G	18: 14,424,874 (GRCm38)	N3D	possibly damaging	Het
Gm7138	T	A	10: 77,776,883 (GRCm38)	D21V	unknown	Het
Gm7298	C	A	6: 121,784,682 (GRCm38)		silent	Het
Gucy2e	A	G	11: 69,236,116 (GRCm38)	V177A	probably benign	Het
Islr	C	A	9: 58,156,973 (GRCm38)	G417V	unknown	Het
Kif13a	A	T	13: 46,761,337 (GRCm38)	M1458K	possibly damaging	Het
Mcm7	T	C	5: 138,165,085 (GRCm38)	D642G	possibly damaging	Het
Med24	A	T	11: 98,705,144 (GRCm38)	I941N	probably damaging	Het
Mrgprb8	C	T	7: 48,389,228 (GRCm38)	P216S	possibly damaging	Het
Myo5c	T	A	9: 75,242,772 (GRCm38)	V13D	probably damaging	Het
N4bp2	T	A	5: 65,808,208 (GRCm38)	I1200K	possibly damaging	Het
Naip6	G	A	13: 100,300,653 (GRCm38)	T454M	possibly damaging	Het
Nfkb1	T	C	3: 135,589,452 (GRCm38)	Y877C	probably damaging	Het
Nolc1	C	A	19: 46,083,032 (GRCm38)	S473R	unknown	Het
Nop16	A	C	13: 54,589,859 (GRCm38)		probably benign	Het
Nr3c2	T	C	8: 77,242,463 (GRCm38)	I959T	probably damaging	Het
Nup88	T	G	11: 70,944,115 (GRCm38)	K692N	probably benign	Het
Nvl	C	A	1: 181,095,054 (GRCm38)	G818V	probably benign	Het
Olfr1046	T	C	2: 86,216,856 (GRCm38)	I285V	probably damaging	Het
Olfr1193	T	C	2: 88,678,611 (GRCm38)	V245A	probably benign	Het
Olfr1357	G	T	10: 78,612,140 (GRCm38)	T167N	probably benign	Het
Olfr731	T	A	14: 50,237,919 (GRCm38)	E322V	probably benign	Het
Olfr732	A	G	14: 50,281,779 (GRCm38)	I158T	probably benign	Het
Olfr913	A	T	9: 38,595,109 (GRCm38)	D296V	probably damaging	Het
Plxnc1	G	A	10: 94,799,278 (GRCm38)	S1362L	probably damaging	Het
Ppfia2	C	T	10: 106,858,253 (GRCm38)	A696V	probably damaging	Het
Prl	A	G	13: 27,059,532 (GRCm38)	Y62C	probably damaging	Het
Rrp8	A	G	7: 105,735,037 (GRCm38)	L86P	probably damaging	Het
Rsph4a	T	C	10: 33,909,449 (GRCm38)	V452A	probably damaging	Het
Runx2	C	A	17: 44,639,683 (GRCm38)	V410L	probably benign	Het
Samd9l	T	C	6: 3,376,665 (GRCm38)	T199A	probably damaging	Het
Sik3	T	C	9: 46,209,067 (GRCm38)	S745P	probably damaging	Het
Slc35e1	T	A	8: 72,488,129 (GRCm38)	S250C	probably damaging	Het
Snx31	A	G	15: 36,537,552 (GRCm38)	F160S	probably damaging	Het
Stim2	T	A	5: 53,998,915 (GRCm38)	V11E	probably benign	Het
Tmem135	G	C	7: 89,147,978 (GRCm38)	L357V	probably benign	Het
Tox4	T	C	14: 52,286,861 (GRCm38)	S151P	probably damaging	Het
Trim34b	A	T	7: 104,336,112 (GRCm38)	D318V	probably damaging	Het
Ubtd1	T	C	19: 42,033,756 (GRCm38)	S156P	probably damaging	Het
Usp34	C	A	11: 23,484,143 (GRCm38)	L3240M		Het
Vmn1r56	T	C	7: 5,195,806 (GRCm38)	S271G	probably damaging	Het
Vps13b	T	C	15: 35,472,066 (GRCm38)		probably benign	Het
Vps13c	T	C	9: 67,945,828 (GRCm38)	F2401S	probably damaging	Het
Zbtb11	G	A	16: 55,982,274 (GRCm38)	V216I	probably damaging	Het
Zfp931	T	C	2: 178,067,796 (GRCm38)	T266A	possibly damaging	Het
Zfp956	A	G	6: 47,956,108 (GRCm38)	M106V	probably benign	Het

Other mutations in Rnf135

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Rnf135	APN	11	80,189,255 (GRCm38)	missense	probably benign	0.13
IGL02637:Rnf135	APN	11	80,198,878 (GRCm38)	missense	probably benign	0.28
IGL03179:Rnf135	APN	11	80,194,011 (GRCm38)	missense	possibly damaging	0.95
R0027:Rnf135	UTSW	11	80,193,942 (GRCm38)	missense	probably benign	0.10
R0282:Rnf135	UTSW	11	80,193,958 (GRCm38)	missense	probably damaging	0.99
R0496:Rnf135	UTSW	11	80,183,950 (GRCm38)	missense	probably damaging	1.00
R1680:Rnf135	UTSW	11	80,196,881 (GRCm38)	missense	possibly damaging	0.70
R2173:Rnf135	UTSW	11	80,189,240 (GRCm38)	missense	probably benign	0.36
R3721:Rnf135	UTSW	11	80,196,917 (GRCm38)	missense	probably benign	0.05
R3722:Rnf135	UTSW	11	80,196,917 (GRCm38)	missense	probably benign	0.05
R4089:Rnf135	UTSW	11	80,199,046 (GRCm38)	missense	probably damaging	1.00
R4793:Rnf135	UTSW	11	80,196,949 (GRCm38)	critical splice donor site	probably null
R4901:Rnf135	UTSW	11	80,198,836 (GRCm38)	missense	probably damaging	1.00
R5640:Rnf135	UTSW	11	80,193,907 (GRCm38)	missense	probably benign	0.12
R5826:Rnf135	UTSW	11	80,199,086 (GRCm38)	missense	probably damaging	1.00
R6225:Rnf135	UTSW	11	80,189,227 (GRCm38)	missense	possibly damaging	0.91
R7096:Rnf135	UTSW	11	80,189,225 (GRCm38)	missense	probably benign	0.19
R7532:Rnf135	UTSW	11	80,198,906 (GRCm38)	missense	probably benign	0.03
R8255:Rnf135	UTSW	11	80,193,887 (GRCm38)	missense	probably benign	0.01
R8889:Rnf135	UTSW	11	80,184,131 (GRCm38)	missense	probably benign	0.01
R8892:Rnf135	UTSW	11	80,184,131 (GRCm38)	missense	probably benign	0.01
R9553:Rnf135	UTSW	11	80,183,932 (GRCm38)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACACTAGGAACTGTAGCCACTG -3'
(R):5'- GTGGCCCCTAAACAAAGAGG -3'

Sequencing Primer
(F):5'- ACTGGGCCATCGGGGTAG -3'
(R):5'- TGGCCCCTAAACAAAGAGGCTAAG -3'

Posted On

2021-04-30