Incidental Mutation 'IGL01371:Rnf135'
ID76157
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf135
Ensembl Gene ENSMUSG00000020707
Gene Namering finger protein 135
SynonymsU 2-3-0, 0610037N03Rik, MGC13061, 2410006N06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01371
Quality Score
Status
Chromosome11
Chromosomal Location80183851-80199757 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80189255 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 124 (I124N)
Ref Sequence ENSEMBL: ENSMUSP00000017839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017839]
Predicted Effect probably benign
Transcript: ENSMUST00000017839
AA Change: I124N

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000017839
Gene: ENSMUSG00000020707
AA Change: I124N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134909
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik T C 9: 103,254,776 E504G possibly damaging Het
Abcc9 C T 6: 142,656,614 R691Q probably benign Het
AI314180 A G 4: 58,809,718 L1583P probably damaging Het
Ambra1 G T 2: 91,825,286 G700W probably damaging Het
Atp6v1c1 A G 15: 38,682,960 I198V probably benign Het
Bptf T C 11: 107,055,907 N2353S probably benign Het
Cd84 A T 1: 171,886,370 T312S probably benign Het
Chl1 G T 6: 103,715,364 C1064F probably damaging Het
Clca4a T C 3: 144,960,672 D473G probably damaging Het
Dsp A G 13: 38,193,617 R1793G probably benign Het
Dync1h1 A G 12: 110,638,851 N2374S probably benign Het
Gm43191 A T 3: 116,645,463 I130N probably damaging Het
Gm5134 T G 10: 76,004,747 L475R probably damaging Het
Grm1 A G 10: 10,720,039 V615A probably benign Het
Loxl1 T A 9: 58,294,422 Q462L possibly damaging Het
Nwd1 T C 8: 72,675,115 W755R probably damaging Het
Olfr1102 A T 2: 87,002,923 K318M probably benign Het
Olfr1408 A G 1: 173,130,531 S229P possibly damaging Het
Olfr1459 G A 19: 13,145,828 T277I possibly damaging Het
Otud4 T C 8: 79,673,761 F1034L probably damaging Het
Pakap C A 4: 57,856,325 D551E probably benign Het
Panx3 T G 9: 37,661,475 T260P probably benign Het
Ppfia4 A T 1: 134,328,086 S194T probably benign Het
Rpf1 T C 3: 146,507,547 N283S probably damaging Het
Smg5 A G 3: 88,359,644 probably benign Het
Stard9 A G 2: 120,701,368 E2702G probably benign Het
Tbk1 A T 10: 121,559,871 M439K probably benign Het
Tmem235 T C 11: 117,862,306 L85P possibly damaging Het
Trhde A T 10: 114,588,500 V460E possibly damaging Het
Ttn T C 2: 76,790,264 probably benign Het
Vmn1r83 A G 7: 12,321,233 F299S probably benign Het
Other mutations in Rnf135
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5826:Rnf135 UTSW 11 80199086 missense probably damaging 1.00
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
Posted On2013-10-07