Incidental Mutation 'R0027:Rnf135'
ID 44528
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 038322-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0027 (G1) of strain 730
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 80074677-80090583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80084768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 180 (S180R)
Ref Sequence ENSEMBL: ENSMUSP00000017839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017839]
AlphaFold Q9CWS1
Predicted Effect probably benign
Transcript: ENSMUST00000017839
AA Change: S180R

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000017839
Gene: ENSMUSG00000020707
AA Change: S180R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (65/66)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,285,959 (GRCm39) I723F probably damaging Het
Anapc1 G T 2: 128,483,431 (GRCm39) D1221E possibly damaging Het
Arhgef28 T A 13: 98,082,204 (GRCm39) E1201V possibly damaging Het
Capn12 T A 7: 28,581,385 (GRCm39) H79Q probably benign Het
Caprin1 A T 2: 103,605,925 (GRCm39) probably benign Het
Carmil3 T A 14: 55,731,860 (GRCm39) F196Y probably damaging Het
Casp8ap2 A G 4: 32,643,810 (GRCm39) H961R probably benign Het
Cdkl3 C T 11: 51,923,176 (GRCm39) probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Col13a1 A G 10: 61,685,940 (GRCm39) L684P unknown Het
D430041D05Rik A T 2: 104,085,389 (GRCm39) F1053L probably benign Het
Dab1 T C 4: 104,561,396 (GRCm39) probably benign Het
Dmxl1 A T 18: 50,090,362 (GRCm39) probably benign Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eml1 T C 12: 108,502,557 (GRCm39) C708R possibly damaging Het
Fam131b T A 6: 42,295,182 (GRCm39) M304L probably benign Het
Foxk1 A T 5: 142,436,095 (GRCm39) I321F probably damaging Het
Gm10306 C T 4: 94,445,027 (GRCm39) probably benign Het
Gm10985 TA TANA 3: 53,752,677 (GRCm39) probably null Het
Gse1 T C 8: 121,293,285 (GRCm39) probably benign Het
Hcn3 A G 3: 89,067,132 (GRCm39) S79P probably damaging Het
Hspa4 T A 11: 53,174,412 (GRCm39) M203L probably benign Het
Ints15 G A 5: 143,293,817 (GRCm39) T220I probably damaging Het
Kctd7 G A 5: 130,181,414 (GRCm39) R279H probably damaging Het
Kif11 C T 19: 37,395,431 (GRCm39) probably benign Het
Klf13 T C 7: 63,541,509 (GRCm39) N206S probably benign Het
Kpna7 A T 5: 144,926,507 (GRCm39) Y482N probably damaging Het
Lamc1 T C 1: 153,138,329 (GRCm39) Y175C probably damaging Het
Lrpprc G A 17: 85,074,435 (GRCm39) R491* probably null Het
Madd T A 2: 90,982,894 (GRCm39) I1350F probably damaging Het
Mbtd1 T C 11: 93,815,375 (GRCm39) V321A possibly damaging Het
Mon2 G A 10: 122,871,953 (GRCm39) S357L possibly damaging Het
Ndst3 A G 3: 123,465,162 (GRCm39) V270A probably damaging Het
Nlrp2 T C 7: 5,325,447 (GRCm39) T742A probably damaging Het
Nopchap1 G A 10: 83,200,393 (GRCm39) probably benign Het
Or6d14 T C 6: 116,533,910 (GRCm39) S175P probably damaging Het
Papola A C 12: 105,799,395 (GRCm39) S675R probably benign Het
Pcdh9 T A 14: 94,126,081 (GRCm39) I30F probably null Het
Prl6a1 T A 13: 27,502,011 (GRCm39) L126Q probably damaging Het
Prr29 A G 11: 106,267,102 (GRCm39) E89G possibly damaging Het
Psmd1 T C 1: 86,021,987 (GRCm39) probably benign Het
Rad9b A G 5: 122,489,786 (GRCm39) probably benign Het
Rest T C 5: 77,430,398 (GRCm39) V939A probably benign Het
Sarm1 C A 11: 78,378,917 (GRCm39) R376L probably damaging Het
Scap C A 9: 110,208,798 (GRCm39) P613Q probably benign Het
Scube3 C T 17: 28,383,331 (GRCm39) R374* probably null Het
Setx T G 2: 29,029,233 (GRCm39) V167G probably damaging Het
Snrnp40 T A 4: 130,262,066 (GRCm39) H151Q probably damaging Het
Sox21 G T 14: 118,473,029 (GRCm39) H7N probably benign Het
Stard9 A T 2: 120,533,982 (GRCm39) Q3413L probably benign Het
Sycp1 A G 3: 102,803,226 (GRCm39) V528A probably benign Het
Tcl1b3 A T 12: 105,157,498 (GRCm39) S47C probably damaging Het
Treml4 T C 17: 48,571,962 (GRCm39) S122P possibly damaging Het
Trip11 C T 12: 101,851,428 (GRCm39) A879T probably benign Het
Ubr4 C A 4: 139,127,704 (GRCm39) N567K probably damaging Het
Zan T C 5: 137,404,781 (GRCm39) probably benign Het
Zfp804a G A 2: 82,087,544 (GRCm39) D458N probably damaging Het
Zic2 T C 14: 122,713,755 (GRCm39) M223T 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
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
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'- ccaactccCCAGAAAGAAATCTGCc -3'
(R):5'- aTACCCAACTTCCTTTATCAGTCCTGCTCC -3'

Sequencing Primer
(F):5'- acaaaaacaaacacaaacaaacaaac -3'
(R):5'- TATCAGTCCTGCTCCAGTAAAC -3'
Posted On 2013-06-11