Incidental Mutation 'R3435:Tmem117'
ID 267167
Institutional Source Beutler Lab
Gene Symbol Tmem117
Ensembl Gene ENSMUSG00000063296
Gene Name transmembrane protein 117
Synonyms B930062P21Rik
MMRRC Submission 040653-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R3435 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 94527113-94993979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94992573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 411 (I411T)
Ref Sequence ENSEMBL: ENSMUSP00000079038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080141] [ENSMUST00000229933]
AlphaFold Q8BH18
Predicted Effect probably damaging
Transcript: ENSMUST00000080141
AA Change: I411T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: I411T

DomainStartEndE-ValueType
Pfam:TMEM117 4 416 1.1e-235 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189291
Predicted Effect probably benign
Transcript: ENSMUST00000229933
Meta Mutation Damage Score 0.1689 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A C 2: 68,432,189 (GRCm39) D91A unknown Het
Abca9 T C 11: 110,045,256 (GRCm39) E359G probably benign Het
Atp7a G A X: 105,138,463 (GRCm39) R563K probably benign Het
Dnah1 T C 14: 31,038,631 (GRCm39) D150G probably damaging Het
Fam47e T A 5: 92,733,221 (GRCm39) V152D probably damaging Het
Gm19965 C A 1: 116,749,353 (GRCm39) H345N possibly damaging Het
Ift74 A G 4: 94,510,089 (GRCm39) probably null Het
Iqgap3 A G 3: 88,001,911 (GRCm39) I384V probably benign Het
Lrrc57 T A 2: 120,439,862 (GRCm39) probably benign Het
Mafk C T 5: 139,786,062 (GRCm39) Q87* probably null Het
Mast2 A T 4: 116,165,292 (GRCm39) S1314T probably benign Het
Mast4 A G 13: 102,923,887 (GRCm39) I508T probably damaging Het
Mdn1 T C 4: 32,733,726 (GRCm39) probably null Het
Mup6 G T 4: 60,004,116 (GRCm39) probably null Het
Neurl1a T C 19: 47,245,964 (GRCm39) V532A probably damaging Het
Nod2 A G 8: 89,390,637 (GRCm39) R293G possibly damaging Het
Notch3 A T 17: 32,377,592 (GRCm39) D161E possibly damaging Het
Or1j1 T A 2: 36,702,690 (GRCm39) Q138L probably benign Het
Osbpl3 A T 6: 50,325,050 (GRCm39) N149K possibly damaging Het
P2rx4 T A 5: 122,863,133 (GRCm39) I202K probably damaging Het
Pbxip1 T C 3: 89,354,543 (GRCm39) L354P probably damaging Het
Pld1 A T 3: 28,178,772 (GRCm39) M889L probably benign Het
Ppp2r2b T A 18: 42,874,174 (GRCm39) Q52L possibly damaging Het
Prob1 T C 18: 35,787,294 (GRCm39) E320G possibly damaging Het
Stard13 A T 5: 150,965,644 (GRCm39) L937Q probably damaging Het
Strn4 T C 7: 16,571,558 (GRCm39) S563P possibly damaging Het
Syne1 T C 10: 5,298,565 (GRCm39) D1114G probably damaging Het
Tmx3 T A 18: 90,546,028 (GRCm39) V203E probably damaging Het
Ttn T C 2: 76,709,062 (GRCm39) probably benign Het
Vmn1r209 A T 13: 22,990,267 (GRCm39) M141K probably benign Het
Other mutations in Tmem117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Tmem117 APN 15 94,992,545 (GRCm39) missense probably benign
IGL02342:Tmem117 APN 15 94,909,331 (GRCm39) missense possibly damaging 0.76
IGL02418:Tmem117 APN 15 94,829,765 (GRCm39) missense probably benign 0.10
IGL02651:Tmem117 APN 15 94,992,442 (GRCm39) missense probably damaging 1.00
IGL02740:Tmem117 APN 15 94,612,863 (GRCm39) missense probably benign 0.00
IGL02819:Tmem117 APN 15 94,777,253 (GRCm39) splice site probably benign
IGL02881:Tmem117 APN 15 94,777,306 (GRCm39) missense probably damaging 1.00
IGL02887:Tmem117 APN 15 94,992,656 (GRCm39) missense probably damaging 1.00
IGL03371:Tmem117 APN 15 94,909,274 (GRCm39) missense probably damaging 1.00
R0464:Tmem117 UTSW 15 94,612,800 (GRCm39) missense probably damaging 0.98
R0539:Tmem117 UTSW 15 94,612,793 (GRCm39) missense possibly damaging 0.63
R1029:Tmem117 UTSW 15 94,909,217 (GRCm39) missense probably benign
R1424:Tmem117 UTSW 15 94,829,689 (GRCm39) missense probably benign 0.35
R1439:Tmem117 UTSW 15 94,992,478 (GRCm39) missense probably benign
R1498:Tmem117 UTSW 15 94,536,242 (GRCm39) missense probably damaging 1.00
R1604:Tmem117 UTSW 15 94,992,425 (GRCm39) missense probably damaging 1.00
R1746:Tmem117 UTSW 15 94,829,714 (GRCm39) missense possibly damaging 0.55
R1829:Tmem117 UTSW 15 94,992,432 (GRCm39) missense probably damaging 1.00
R3434:Tmem117 UTSW 15 94,992,573 (GRCm39) missense probably damaging 0.98
R4560:Tmem117 UTSW 15 94,992,677 (GRCm39) missense probably benign 0.00
R4561:Tmem117 UTSW 15 94,992,677 (GRCm39) missense probably benign 0.00
R4562:Tmem117 UTSW 15 94,992,677 (GRCm39) missense probably benign 0.00
R4563:Tmem117 UTSW 15 94,536,035 (GRCm39) missense possibly damaging 0.95
R4777:Tmem117 UTSW 15 94,992,331 (GRCm39) nonsense probably null
R4854:Tmem117 UTSW 15 94,992,569 (GRCm39) missense probably damaging 0.97
R5051:Tmem117 UTSW 15 94,612,794 (GRCm39) missense probably damaging 0.96
R5472:Tmem117 UTSW 15 94,992,394 (GRCm39) missense possibly damaging 0.91
R5485:Tmem117 UTSW 15 94,992,711 (GRCm39) missense probably benign 0.00
R5488:Tmem117 UTSW 15 94,992,698 (GRCm39) frame shift probably null
R5595:Tmem117 UTSW 15 94,992,765 (GRCm39) missense probably damaging 0.99
R5648:Tmem117 UTSW 15 94,992,653 (GRCm39) missense possibly damaging 0.88
R5892:Tmem117 UTSW 15 94,536,020 (GRCm39) missense probably damaging 0.99
R5901:Tmem117 UTSW 15 94,612,839 (GRCm39) missense probably benign 0.08
R6334:Tmem117 UTSW 15 94,909,324 (GRCm39) missense probably benign 0.01
R7216:Tmem117 UTSW 15 94,612,793 (GRCm39) missense possibly damaging 0.91
R7266:Tmem117 UTSW 15 94,829,684 (GRCm39) missense possibly damaging 0.82
R7414:Tmem117 UTSW 15 94,612,776 (GRCm39) missense probably damaging 1.00
R7445:Tmem117 UTSW 15 94,612,799 (GRCm39) missense probably benign 0.05
R8205:Tmem117 UTSW 15 94,992,679 (GRCm39) missense probably benign
R8698:Tmem117 UTSW 15 94,535,990 (GRCm39) missense probably benign 0.17
R8719:Tmem117 UTSW 15 94,992,248 (GRCm39) missense probably damaging 1.00
R9581:Tmem117 UTSW 15 94,992,268 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGGACAGTATATTGGCCCAGG -3'
(R):5'- CAAGGCAGGGTCATTCAGAG -3'

Sequencing Primer
(F):5'- CCCAGGGCAGAAGATATACACAGTG -3'
(R):5'- GGTCATTCAGAGGATCTTCCACAG -3'
Posted On 2015-02-18