Incidental Mutation 'R5826:Rnf135'
ID 450187
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 043217-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5826 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 80074677-80090583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80089912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 416 (N416I)
Ref Sequence ENSEMBL: ENSMUSP00000017839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017839]
AlphaFold Q9CWS1
Predicted Effect probably damaging
Transcript: ENSMUST00000017839
AA Change: N416I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000017839
Gene: ENSMUSG00000020707
AA Change: N416I

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,632,056 (GRCm39) H4992R probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Akr1c20 T C 13: 4,560,222 (GRCm39) E152G probably damaging Het
Ano4 T A 10: 88,788,189 (GRCm39) D877V probably damaging Het
Asb18 A C 1: 89,942,260 (GRCm39) S14A probably damaging Het
Atrnl1 T A 19: 57,618,724 (GRCm39) Y147* probably null Het
Cbfa2t2 A G 2: 154,342,375 (GRCm39) I30M possibly damaging Het
Cpd A T 11: 76,675,242 (GRCm39) L1293* probably null Het
Csmd2 T C 4: 128,412,992 (GRCm39) probably null Het
Cst9 G A 2: 148,680,393 (GRCm39) V120I possibly damaging Het
Ddah2 A G 17: 35,279,664 (GRCm39) D128G probably damaging Het
Defb11 T C 8: 22,395,510 (GRCm39) I56V probably benign Het
Dnah17 A T 11: 117,925,193 (GRCm39) L3880Q probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dop1a A G 9: 86,389,623 (GRCm39) T508A possibly damaging Het
Ephb2 T A 4: 136,388,048 (GRCm39) H685L probably damaging Het
Glrb T C 3: 80,752,449 (GRCm39) Y387C probably damaging Het
Gucy2e A G 11: 69,126,859 (GRCm39) S205P possibly damaging Het
Has2 T A 15: 56,531,498 (GRCm39) I406F probably damaging Het
Hcrtr2 A C 9: 76,230,569 (GRCm39) V73G probably benign Het
Hsd17b4 A T 18: 50,316,239 (GRCm39) Q622L probably benign Het
Nlrp1b A T 11: 71,072,022 (GRCm39) M607K probably benign Het
Nol6 T A 4: 41,122,158 (GRCm39) D184V probably benign Het
Noxa1 T A 2: 24,976,253 (GRCm39) Q345L probably damaging Het
Nudt6 T C 3: 37,473,617 (GRCm39) T35A probably benign Het
Phf8-ps C A 17: 33,284,288 (GRCm39) R838I possibly damaging Het
Plcg2 T C 8: 118,337,583 (GRCm39) V985A probably benign Het
Plxnc1 C T 10: 94,635,335 (GRCm39) probably null Het
Prkdc G A 16: 15,551,962 (GRCm39) R2056H probably benign Het
Ptpn4 A T 1: 119,612,246 (GRCm39) I49N probably benign Het
Ralgapa1 T G 12: 55,723,898 (GRCm39) S1543R probably damaging Het
Scn5a A G 9: 119,350,399 (GRCm39) L825P probably damaging Het
Septin11 A T 5: 93,287,309 (GRCm39) N8I possibly damaging Het
Slc13a3 T C 2: 165,250,876 (GRCm39) I456V probably benign Het
Slc16a3 A G 11: 120,847,756 (GRCm39) T315A probably benign Het
Sun1 T G 5: 139,231,171 (GRCm39) F657C probably damaging Het
Tmco3 T C 8: 13,360,314 (GRCm39) S34P probably damaging Het
Tnrc18 G A 5: 142,759,502 (GRCm39) P778L unknown Het
Ubxn4 A C 1: 128,194,058 (GRCm39) K284T possibly damaging Het
Usp37 A T 1: 74,509,785 (GRCm39) N461K probably damaging Het
Vmn2r106 A T 17: 20,499,133 (GRCm39) F259L probably benign Het
Vmn2r73 T C 7: 85,524,956 (GRCm39) D64G possibly damaging Het
Other mutations in Rnf135
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TGCTTGGGCCAAGATGAAG -3'
(R):5'- CTCTTTCTCTGAAATGCCCAAGG -3'

Sequencing Primer
(F):5'- ACTTGCAGTCGGACCTCC -3'
(R):5'- GTCATATCATATAGTCCAAGCTGGCC -3'
Posted On 2016-12-20