Incidental Mutation 'R5826:Rnf135'
ID450187
Institutional Source Beutler Lab
Gene Symbol Rnf135
Ensembl Gene ENSMUSG00000020707
Gene Namering finger protein 135
SynonymsU 2-3-0, 0610037N03Rik, MGC13061, 2410006N06Rik
MMRRC Submission 043217-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5826 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location80183851-80199757 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 80199086 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 416 (N416I)
Ref Sequence ENSEMBL: ENSMUSP00000017839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017839]
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
4921501E09Rik C A 17: 33,065,314 R838I possibly damaging Het
Abca13 A G 11: 9,682,056 H4992R probably damaging Het
Acyp2 C T 11: 30,506,354 E98K possibly damaging Het
Akr1c20 T C 13: 4,510,223 E152G probably damaging Het
Ano4 T A 10: 88,952,327 D877V probably damaging Het
Asb18 A C 1: 90,014,538 S14A probably damaging Het
Atrnl1 T A 19: 57,630,292 Y147* probably null Het
Cbfa2t2 A G 2: 154,500,455 I30M possibly damaging Het
Cpd A T 11: 76,784,416 L1293* probably null Het
Csmd2 T C 4: 128,519,199 probably null Het
Cst9 G A 2: 148,838,473 V120I possibly damaging Het
Ddah2 A G 17: 35,060,688 D128G probably damaging Het
Defb11 T C 8: 21,905,494 I56V probably benign Het
Dnah17 A T 11: 118,034,367 L3880Q probably damaging Het
Dnah2 C T 11: 69,458,920 R2399Q probably benign Het
Dopey1 A G 9: 86,507,570 T508A possibly damaging Het
Ephb2 T A 4: 136,660,737 H685L probably damaging Het
Glrb T C 3: 80,845,142 Y387C probably damaging Het
Gucy2e A G 11: 69,236,033 S205P possibly damaging Het
Has2 T A 15: 56,668,102 I406F probably damaging Het
Hcrtr2 A C 9: 76,323,287 V73G probably benign Het
Hsd17b4 A T 18: 50,183,172 Q622L probably benign Het
Nlrp1b A T 11: 71,181,196 M607K probably benign Het
Nol6 T A 4: 41,122,158 D184V probably benign Het
Noxa1 T A 2: 25,086,241 Q345L probably damaging Het
Nudt6 T C 3: 37,419,468 T35A probably benign Het
Plcg2 T C 8: 117,610,844 V985A probably benign Het
Plxnc1 C T 10: 94,799,473 probably null Het
Prkdc G A 16: 15,734,098 R2056H probably benign Het
Ptpn4 A T 1: 119,684,516 I49N probably benign Het
Ralgapa1 T G 12: 55,677,113 S1543R probably damaging Het
Scn5a A G 9: 119,521,333 L825P probably damaging Het
Sept11 A T 5: 93,139,450 N8I possibly damaging Het
Slc13a3 T C 2: 165,408,956 I456V probably benign Het
Slc16a3 A G 11: 120,956,930 T315A probably benign Het
Sun1 T G 5: 139,245,416 F657C probably damaging Het
Tmco3 T C 8: 13,310,314 S34P probably damaging Het
Tnrc18 G A 5: 142,773,747 P778L unknown Het
Ubxn4 A C 1: 128,266,321 K284T possibly damaging Het
Usp37 A T 1: 74,470,626 N461K probably damaging Het
Vmn2r106 A T 17: 20,278,871 F259L probably benign Het
Vmn2r73 T C 7: 85,875,748 D64G possibly damaging Het
Other mutations in Rnf135
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01371:Rnf135 APN 11 80189255 missense probably benign 0.13
IGL02637:Rnf135 APN 11 80198878 missense probably benign 0.28
IGL03179:Rnf135 APN 11 80194011 missense possibly damaging 0.95
R0027:Rnf135 UTSW 11 80193942 missense probably benign 0.10
R0282:Rnf135 UTSW 11 80193958 missense probably damaging 0.99
R0496:Rnf135 UTSW 11 80183950 missense probably damaging 1.00
R1680:Rnf135 UTSW 11 80196881 missense possibly damaging 0.70
R2173:Rnf135 UTSW 11 80189240 missense probably benign 0.36
R3721:Rnf135 UTSW 11 80196917 missense probably benign 0.05
R3722:Rnf135 UTSW 11 80196917 missense probably benign 0.05
R4089:Rnf135 UTSW 11 80199046 missense probably damaging 1.00
R4793:Rnf135 UTSW 11 80196949 critical splice donor site probably null
R4901:Rnf135 UTSW 11 80198836 missense probably damaging 1.00
R5640:Rnf135 UTSW 11 80193907 missense probably benign 0.12
R6225:Rnf135 UTSW 11 80189227 missense possibly damaging 0.91
R7096:Rnf135 UTSW 11 80189225 missense probably benign 0.19
R7532:Rnf135 UTSW 11 80198906 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGCTTGGGCCAAGATGAAG -3'
(R):5'- CTCTTTCTCTGAAATGCCCAAGG -3'

Sequencing Primer
(F):5'- ACTTGCAGTCGGACCTCC -3'
(R):5'- GTCATATCATATAGTCCAAGCTGGCC -3'
Posted On2016-12-20