Mutagenetix > Incidental Mutation

Incidental Mutation 'R0496:Rnf135'

43960

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

038692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0496 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

80183851-80199757 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80183950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 12 (V12M)

Ref Sequence

ENSEMBL: ENSMUSP00000017839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017839] [ENSMUST00000021050]

AlphaFold

Q9CWS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000017839
AA Change: V12M

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

SMART Domains

Protein: ENSMUSP00000017839
Gene: ENSMUSG00000020707
AA Change: V12M

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

probably benign
Transcript: ENSMUST00000021050

SMART Domains

Protein: ENSMUSP00000021050
Gene: ENSMUSG00000020709

Domain	Start	End	E-Value	Type
ArfGap	9	130	1.62e-42	SMART
PH	133	235	4.57e-8	SMART
PH	256	363	2.35e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134909

Meta Mutation Damage Score

0.2371

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

98% (99/101)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,244 (GRCm38)	K1065E	probably damaging	Het
4932438A13Rik	A	G	3: 36,987,635 (GRCm38)	T2721A	probably damaging	Het
4933402N03Rik	T	C	7: 131,146,131 (GRCm38)	N44S	probably benign	Het
Abca13	A	G	11: 9,291,701 (GRCm38)	D1188G	probably benign	Het
Abcb11	C	T	2: 69,277,884 (GRCm38)		probably benign	Het
Abcc8	A	T	7: 46,108,820 (GRCm38)	I1274N	probably damaging	Het
Adamtsl1	G	A	4: 86,341,198 (GRCm38)	C827Y	probably damaging	Het
Agap3	T	A	5: 24,501,243 (GRCm38)	V369E	probably damaging	Het
Ankrd13b	G	A	11: 77,473,041 (GRCm38)	R195C	probably damaging	Het
Ap3b1	A	G	13: 94,472,938 (GRCm38)		probably benign	Het
Arhgef40	A	T	14: 52,004,907 (GRCm38)		probably benign	Het
Atad5	A	G	11: 80,100,356 (GRCm38)	I692V	probably benign	Het
Atp5b	G	T	10: 128,086,174 (GRCm38)	R310L	possibly damaging	Het
AY358078	A	T	14: 51,803,532 (GRCm38)	M103L	unknown	Het
Bcl9l	T	G	9: 44,509,518 (GRCm38)	V1370G	probably benign	Het
Bglap3	T	A	3: 88,369,137 (GRCm38)	Q38L	probably damaging	Het
Cd38	T	C	5: 43,868,891 (GRCm38)	F6L	probably damaging	Het
Cela3a	A	C	4: 137,404,468 (GRCm38)	V138G	probably damaging	Het
Clvs1	T	A	4: 9,424,241 (GRCm38)	I229N	probably damaging	Het
Cpne1	G	A	2: 156,079,419 (GRCm38)	H16Y	probably damaging	Het
Ctc1	T	C	11: 69,035,507 (GRCm38)	L1069P	probably damaging	Het
Ctgf	G	T	10: 24,597,515 (GRCm38)	M317I	possibly damaging	Het
Dgkd	G	A	1: 87,936,900 (GRCm38)	S996N	probably null	Het
Dnah9	A	T	11: 66,075,135 (GRCm38)	M1685K	probably null	Het
Dnajb12	C	T	10: 59,879,801 (GRCm38)	R42*	probably null	Het
Dock5	T	C	14: 67,817,518 (GRCm38)	Q633R	probably damaging	Het
Dync2h1	A	G	9: 7,155,180 (GRCm38)	M868T	probably benign	Het
Enpp1	G	T	10: 24,672,052 (GRCm38)	H208Q	probably benign	Het
Epha7	T	A	4: 28,821,292 (GRCm38)	D152E	probably damaging	Het
Fancd2	T	C	6: 113,555,130 (GRCm38)		probably benign	Het
Gart	G	A	16: 91,623,037 (GRCm38)		probably benign	Het
Gm10964	A	T	3: 103,739,429 (GRCm38)		probably null	Het
Gm7075	G	T	10: 63,421,602 (GRCm38)	C46*	probably null	Het
Gpbar1	T	C	1: 74,278,981 (GRCm38)	F128L	probably benign	Het
Gsx2	T	A	5: 75,077,065 (GRCm38)	M226K	probably benign	Het
Gucd1	T	C	10: 75,511,266 (GRCm38)	D50G	possibly damaging	Het
Has1	A	G	17: 17,843,746 (GRCm38)	Y544H	probably benign	Het
Hc	A	T	2: 35,013,571 (GRCm38)	Y1024N	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,260,635 (GRCm38)		probably null	Het
Ift122	T	A	6: 115,905,902 (GRCm38)	H659Q	probably benign	Het
Itga2	T	C	13: 114,853,899 (GRCm38)	Q902R	probably benign	Het
Itgb2l	T	C	16: 96,434,701 (GRCm38)	K181E	possibly damaging	Het
Jak3	A	T	8: 71,682,397 (GRCm38)	H558L	probably damaging	Het
Kcnh8	A	G	17: 52,725,858 (GRCm38)	T58A	probably benign	Het
Klhl6	GT	G	16: 19,956,966 (GRCm38)	279	probably null	Het
Krt33a	C	T	11: 100,012,329 (GRCm38)		probably benign	Het
Magi2	A	T	5: 20,661,359 (GRCm38)		probably benign	Het
Map4	G	A	9: 110,039,850 (GRCm38)		probably benign	Het
Map4k4	T	A	1: 40,006,822 (GRCm38)	S754T	probably damaging	Het
Mapk8ip3	A	G	17: 24,914,450 (GRCm38)		probably benign	Het
Mib1	A	G	18: 10,804,773 (GRCm38)	S918G	probably benign	Het
Mipol1	T	A	12: 57,457,177 (GRCm38)	V377D	probably damaging	Het
Mlh1	T	C	9: 111,241,556 (GRCm38)	T364A	probably benign	Het
Mta1	C	T	12: 113,131,321 (GRCm38)	Q400*	probably null	Het
Mthfd1l	C	G	10: 4,090,006 (GRCm38)	R806G	probably benign	Het
Myh13	C	A	11: 67,348,815 (GRCm38)	N730K	probably damaging	Het
Myom1	A	G	17: 71,084,306 (GRCm38)	K937E	probably damaging	Het
Naxd	T	C	8: 11,510,224 (GRCm38)		probably benign	Het
Negr1	G	T	3: 157,016,267 (GRCm38)	K159N	probably damaging	Het
Nwd2	G	T	5: 63,806,343 (GRCm38)	W1090L	probably damaging	Het
Olfr1170	A	T	2: 88,224,155 (GRCm38)	Y292*	probably null	Het
Olfr137	A	G	17: 38,304,658 (GRCm38)	S268P	probably damaging	Het
Olfr397	T	C	11: 73,964,880 (GRCm38)	S91P	probably benign	Het
Olfr584	T	C	7: 103,085,590 (GRCm38)	I19T	probably damaging	Het
Olfr620	C	T	7: 103,611,997 (GRCm38)	A119T	probably benign	Het
Pcsk6	G	A	7: 65,927,249 (GRCm38)	S58N	probably benign	Het
Pdzrn3	G	A	6: 101,150,570 (GRCm38)	T1045I	possibly damaging	Het
Pitrm1	T	C	13: 6,568,714 (GRCm38)	L641P	probably damaging	Het
Pkd1l1	G	T	11: 8,929,430 (GRCm38)	H474N	probably damaging	Het
Pltp	A	G	2: 164,852,461 (GRCm38)		probably benign	Het
Qtrt1	C	T	9: 21,419,548 (GRCm38)	T324M	probably benign	Het
Racgap1	A	T	15: 99,639,832 (GRCm38)		probably benign	Het
Rhbg	A	G	3: 88,254,498 (GRCm38)	V50A	probably benign	Het
Rufy2	T	C	10: 62,993,170 (GRCm38)	V117A	probably damaging	Het
Safb	A	G	17: 56,605,630 (GRCm38)	M866V	probably benign	Het
Slc35c2	G	T	2: 165,280,815 (GRCm38)	T183K	probably damaging	Het
Slc39a7	A	G	17: 34,029,538 (GRCm38)	L377P	probably damaging	Het
Slit1	G	A	19: 41,608,311 (GRCm38)		probably benign	Het
Spaca9	G	A	2: 28,693,010 (GRCm38)	H133Y	probably damaging	Het
Spout1	A	G	2: 30,174,971 (GRCm38)	F339S	probably benign	Het
St6gal2	A	G	17: 55,482,014 (GRCm38)	I16M	probably damaging	Het
Stat2	T	C	10: 128,276,509 (GRCm38)	M6T	probably benign	Het
Swt1	T	A	1: 151,411,270 (GRCm38)	H157L	probably benign	Het
Syne2	A	G	12: 76,038,940 (GRCm38)	N147D	possibly damaging	Het
Tmem2	A	T	19: 21,797,345 (GRCm38)	N117I	possibly damaging	Het
Tmem222	A	T	4: 133,277,591 (GRCm38)	M45K	possibly damaging	Het
Tmem30a	T	A	9: 79,777,285 (GRCm38)	H95L	probably damaging	Het
Tns3	A	C	11: 8,547,262 (GRCm38)		probably benign	Het
Trpm3	A	G	19: 22,698,778 (GRCm38)	I103V	probably benign	Het
Ube2n	T	C	10: 95,541,344 (GRCm38)	F57S	probably benign	Het
Vil1	T	C	1: 74,421,340 (GRCm38)	S219P	possibly damaging	Het
Wdfy4	A	G	14: 33,140,738 (GRCm38)		probably benign	Het
Wdr7	T	C	18: 63,791,843 (GRCm38)	S966P	probably benign	Het
Wnt8a	A	G	18: 34,544,847 (GRCm38)	N103D	probably damaging	Het
Zfp523	G	A	17: 28,200,445 (GRCm38)	E186K	possibly damaging	Het
Zfp791	A	T	8: 85,109,980 (GRCm38)	D418E	probably benign	Het
Zscan20	A	G	4: 128,591,889 (GRCm38)	V192A	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
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
R8806:Rnf135	UTSW	11	80,198,936 (GRCm38)	missense	probably damaging	1.00
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'- AATCCAGGCAGGTAGCCAGCAATG -3'
(R):5'- TTGGGCTTTGTCAAGGGACCCTTC -3'

Sequencing Primer
(F):5'- CAATGTCCGGCGCTTTTAG -3'
(R):5'- TTCCGACATATGGGGCAAGC -3'

Posted On

2013-05-29