Incidental Mutation 'R4682:Rnf138'
ID 350093
Institutional Source Beutler Lab
Gene Symbol Rnf138
Ensembl Gene ENSMUSG00000024317
Gene Name ring finger protein 138
Synonyms 2810480D20Rik, Trif-d, 2410015A17Rik
MMRRC Submission 041934-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4682 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 21134398-21161281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21143791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 112 (Y112N)
Ref Sequence ENSEMBL: ENSMUSP00000072626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052396] [ENSMUST00000072847]
AlphaFold Q9CQE0
Predicted Effect probably damaging
Transcript: ENSMUST00000052396
AA Change: Y112N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056641
Gene: ENSMUSG00000024317
AA Change: Y112N

DomainStartEndE-ValueType
RING 18 57 1.65e-5 SMART
ZnF_C2H2 157 180 1.62e0 SMART
RING 159 192 1.5e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000072847
AA Change: Y112N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072626
Gene: ENSMUSG00000024317
AA Change: Y112N

DomainStartEndE-ValueType
RING 18 57 1.65e-5 SMART
ZnF_C2H2 157 180 1.62e0 SMART
Meta Mutation Damage Score 0.3912 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (45/48)
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, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,505,925 (GRCm39) V637A probably benign Het
Aurkc G A 7: 6,998,538 (GRCm39) V33M probably null Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dapk1 T A 13: 60,898,961 (GRCm39) S810R probably benign Het
Dpm2 C T 2: 32,462,290 (GRCm39) probably benign Het
Fgb A T 3: 82,950,572 (GRCm39) F394Y probably benign Het
Fry A G 5: 150,346,219 (GRCm39) Y1576C probably damaging Het
Gabra4 T C 5: 71,815,152 (GRCm39) M1V probably null Het
Grhl1 T G 12: 24,658,432 (GRCm39) V359G probably benign Het
Hdac5 T C 11: 102,097,456 (GRCm39) S158G probably null Het
Hdgfl1 T C 13: 26,953,230 (GRCm39) E281G possibly damaging Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Inpp1 T C 1: 52,833,760 (GRCm39) N112S probably benign Het
Itih1 C A 14: 30,659,800 (GRCm39) A279S probably damaging Het
Mad1l1 A T 5: 140,286,007 (GRCm39) M296K possibly damaging Het
Mark4 T C 7: 19,179,097 (GRCm39) probably null Het
Mrpl48 T A 7: 100,198,576 (GRCm39) D192V probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nckap5 A T 1: 126,030,279 (GRCm39) probably null Het
Nlrp4d T C 7: 10,108,879 (GRCm39) T731A noncoding transcript Het
Or4d6 T C 19: 12,086,049 (GRCm39) Y287C probably damaging Het
Pcyt1b C A X: 92,789,970 (GRCm39) P318H probably damaging Het
Plekhm3 T C 1: 64,977,086 (GRCm39) D128G possibly damaging Het
Ppp1r9a A G 6: 4,905,477 (GRCm39) T11A possibly damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Scn9a A T 2: 66,377,362 (GRCm39) V442E probably benign Het
Slc36a4 C A 9: 15,638,144 (GRCm39) S190* probably null Het
Slc46a1 A G 11: 78,359,502 (GRCm39) K378R possibly damaging Het
Snai2 T C 16: 14,526,150 (GRCm39) V267A probably benign Het
Srrm2 T A 17: 24,034,666 (GRCm39) S533T probably benign Het
St6galnac4 T A 2: 32,484,111 (GRCm39) M103K probably damaging Het
Tap2 C A 17: 34,433,006 (GRCm39) Y429* probably null Het
Traf7 T C 17: 24,732,348 (GRCm39) K159E probably damaging Het
Zfp111 T G 7: 23,898,563 (GRCm39) K349N probably damaging Het
Zfp462 A G 4: 55,011,376 (GRCm39) Y1114C probably damaging Het
Other mutations in Rnf138
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Rnf138 APN 18 21,154,017 (GRCm39) missense possibly damaging 0.91
IGL01099:Rnf138 APN 18 21,153,970 (GRCm39) missense possibly damaging 0.50
IGL01471:Rnf138 APN 18 21,157,578 (GRCm39) splice site probably null
R0655:Rnf138 UTSW 18 21,143,840 (GRCm39) missense probably benign 0.00
R1103:Rnf138 UTSW 18 21,159,159 (GRCm39) missense probably damaging 1.00
R1420:Rnf138 UTSW 18 21,159,159 (GRCm39) missense probably damaging 1.00
R1993:Rnf138 UTSW 18 21,157,540 (GRCm39) missense probably damaging 1.00
R2171:Rnf138 UTSW 18 21,159,143 (GRCm39) missense probably damaging 1.00
R5074:Rnf138 UTSW 18 21,159,204 (GRCm39) missense probably benign 0.36
R6866:Rnf138 UTSW 18 21,135,199 (GRCm39) missense probably damaging 1.00
R7257:Rnf138 UTSW 18 21,141,750 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ATGCACTCCTATTGCCTGAC -3'
(R):5'- GCTCTGGGGAAGATAAGCTTAG -3'

Sequencing Primer
(F):5'- CTCTAAGAGAGCCGCTTTCAAGTG -3'
(R):5'- GGTATATCATGAAGTTGGTCTCCAAG -3'
Posted On 2015-10-08