Mutagenetix > Incidental Mutation

Incidental Mutation 'R8255:Rnf135'

640620

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

067681-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80074677-80090583 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80084713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 162 (D162G)

Ref Sequence

ENSEMBL: ENSMUSP00000017839 (fasta)

Gene Model

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

AlphaFold

Q9CWS1

Predicted Effect

probably benign
Transcript: ENSMUST00000017839
AA Change: D162G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000017839
Gene: ENSMUSG00000020707
AA Change: D162G

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: 98.7%

Validation Efficiency

100% (46/46)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,415,850 (GRCm39)	T648S	possibly damaging	Het
Abca12	T	A	1: 71,359,058 (GRCm39)	I583F	probably benign	Het
Abca4	A	T	3: 121,948,926 (GRCm39)	M1732L	probably benign	Het
Ank2	A	G	3: 126,740,398 (GRCm39)	S1742P	unknown	Het
Birc6	G	A	17: 74,969,775 (GRCm39)	A4273T	probably damaging	Het
Chd5	A	G	4: 152,463,880 (GRCm39)	T1450A	probably damaging	Het
Dhx32	T	C	7: 133,339,120 (GRCm39)	N305S	probably benign	Het
Dnah7c	T	C	1: 46,698,589 (GRCm39)	S2174P	probably damaging	Het
Fat2	T	A	11: 55,161,101 (GRCm39)	I3210F	probably benign	Het
Gm12888	A	G	4: 121,181,994 (GRCm39)	S33P	probably damaging	Het
Gpaa1	T	C	15: 76,217,438 (GRCm39)	L292P	probably damaging	Het
Gzmg	T	A	14: 56,395,753 (GRCm39)	R69W	probably damaging	Het
Hat1	A	G	2: 71,239,347 (GRCm39)	D40G	probably damaging	Het
Hcrtr2	T	A	9: 76,140,203 (GRCm39)	I362F	probably damaging	Het
Hmmr	T	C	11: 40,598,262 (GRCm39)	E650G	probably damaging	Het
Ifi35	A	T	11: 101,348,608 (GRCm39)	M180L	probably benign	Het
Ifi44	A	T	3: 151,451,619 (GRCm39)	H162Q	probably benign	Het
Il1rl2	T	C	1: 40,404,471 (GRCm39)	F531L	probably damaging	Het
Ipcef1	T	G	10: 6,870,007 (GRCm39)	K182T	probably benign	Het
Med27	C	A	2: 29,414,376 (GRCm39)		probably null	Het
Med31	G	A	11: 72,106,294 (GRCm39)		probably benign	Het
Moxd1	A	G	10: 24,099,700 (GRCm39)	T67A	probably benign	Het
Myh3	A	G	11: 66,985,848 (GRCm39)	E1266G	probably damaging	Het
Nkx2-4	C	A	2: 146,925,924 (GRCm39)	E313*	probably null	Het
Nol6	G	T	4: 41,120,168 (GRCm39)	R487S	probably benign	Het
Or2v1	C	A	11: 49,025,307 (GRCm39)	A96D	probably benign	Het
Or2z8	T	A	8: 72,811,607 (GRCm39)	F28I	possibly damaging	Het
Or4k15c	C	T	14: 50,321,329 (GRCm39)	V270I	noncoding transcript	Het
Or5p51	A	G	7: 107,444,368 (GRCm39)	S191P	probably damaging	Het
Sdr42e1	G	T	8: 118,390,502 (GRCm39)	N46K	probably benign	Het
Skor2	T	C	18: 76,946,664 (GRCm39)	S129P	unknown	Het
Slc7a11	A	T	3: 50,382,177 (GRCm39)	I190N	probably damaging	Het
Smc5	A	T	19: 23,186,290 (GRCm39)	F1056I		Het
Son	A	T	16: 91,461,824 (GRCm39)	Q2243L	unknown	Het
Sult1a1	T	A	7: 126,274,280 (GRCm39)	I101F	possibly damaging	Het
Sult3a2	T	C	10: 33,655,747 (GRCm39)	I77M	probably benign	Het
Tas1r1	A	T	4: 152,116,774 (GRCm39)	S287T	probably benign	Het
Thbs3	A	C	3: 89,132,565 (GRCm39)	T836P	probably benign	Het
Tlcd3b	G	A	7: 126,423,275 (GRCm39)	V6M	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnfrsf8	A	T	4: 145,041,653 (GRCm39)	M1K	probably null	Het
Vmn1r121	T	G	7: 20,831,679 (GRCm39)	N254H	probably benign	Het
Vmn1r179	C	T	7: 23,628,436 (GRCm39)	A209V	probably benign	Het
Wdr31	A	T	4: 62,381,634 (GRCm39)	S66T	probably benign	Het
Zbtb18	T	C	1: 177,275,003 (GRCm39)	V121A	probably damaging	Het
Zfp30	T	A	7: 29,488,826 (GRCm39)	M82K	probably benign	Het
Zzef1	A	G	11: 72,765,955 (GRCm39)	Q1494R	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCTCTAGATTTGGTCTCTAGCAC -3'
(R):5'- CAGCTCACCCTGAACTCGC -3'

Sequencing Primer
(F):5'- GCCTTTAATCTCAGCATTCAGGAGG -3'
(R):5'- TGAACTCGCTCTCTAGGGG -3'

Posted On

2020-07-28