Incidental Mutation 'IGL02418:Tmem117'
ID 292528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem117
Ensembl Gene ENSMUSG00000063296
Gene Name transmembrane protein 117
Synonyms B930062P21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # IGL02418
Quality Score
Status
Chromosome 15
Chromosomal Location 94527113-94993979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94829765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 200 (I200N)
Ref Sequence ENSEMBL: ENSMUSP00000079038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080141]
AlphaFold Q8BH18
Predicted Effect probably benign
Transcript: ENSMUST00000080141
AA Change: I200N

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: I200N

DomainStartEndE-ValueType
Pfam:TMEM117 4 416 1.1e-235 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,424,479 (GRCm39) probably benign Het
Acsbg2 A G 17: 57,156,730 (GRCm39) V436A probably benign Het
Afap1l1 T C 18: 61,885,648 (GRCm39) D156G probably damaging Het
Arhgap21 G A 2: 20,885,711 (GRCm39) R489C probably damaging Het
Arhgap26 G A 18: 39,490,620 (GRCm39) probably benign Het
Bbs5 T G 2: 69,485,849 (GRCm39) *89G probably null Het
Ceacam5 A T 7: 17,493,359 (GRCm39) Y794F possibly damaging Het
Ces3b T C 8: 105,812,279 (GRCm39) V176A probably damaging Het
Cfi A G 3: 129,642,461 (GRCm39) H105R probably benign Het
Chat C T 14: 32,168,906 (GRCm39) V210I possibly damaging Het
Chd1l A G 3: 97,488,415 (GRCm39) S534P probably benign Het
Cyb5rl T C 4: 106,928,182 (GRCm39) L106P probably damaging Het
Cyp21a1 A G 17: 35,023,162 (GRCm39) probably benign Het
Dnah12 T C 14: 26,495,679 (GRCm39) C1436R probably damaging Het
Flg2 T A 3: 93,108,361 (GRCm39) F130I probably benign Het
Fryl T A 5: 73,267,519 (GRCm39) probably benign Het
Galnt10 T C 11: 57,671,994 (GRCm39) V428A probably benign Het
Ganab A G 19: 8,888,433 (GRCm39) D496G probably null Het
Gapvd1 T C 2: 34,620,530 (GRCm39) T44A probably benign Het
Gm17093 T A 14: 44,758,185 (GRCm39) M122K unknown Het
Gm5356 A T 8: 89,914,064 (GRCm39) noncoding transcript Het
Gmppa G T 1: 75,415,664 (GRCm39) G126C probably damaging Het
Il23r T C 6: 67,467,656 (GRCm39) H37R possibly damaging Het
Itga11 A G 9: 62,651,914 (GRCm39) I349V probably benign Het
Lrrc42 A T 4: 107,100,533 (GRCm39) Y159* probably null Het
Naa16 C A 14: 79,620,806 (GRCm39) R57L probably damaging Het
Ntmt2 A T 1: 163,530,725 (GRCm39) V238E probably damaging Het
Or8g4 A G 9: 39,661,787 (GRCm39) Y35C probably damaging Het
Oxtr A T 6: 112,454,200 (GRCm39) H21Q probably damaging Het
Paqr7 A G 4: 134,234,284 (GRCm39) Y47C probably damaging Het
Paxbp1 A C 16: 90,831,000 (GRCm39) C459G probably damaging Het
Pnp2 C T 14: 51,201,293 (GRCm39) R222C possibly damaging Het
Rtl1 T C 12: 109,556,883 (GRCm39) D1652G probably damaging Het
Saxo5 T A 8: 3,526,080 (GRCm39) F78I probably damaging Het
Shoc1 A T 4: 59,049,075 (GRCm39) probably benign Het
Spata4 C A 8: 55,062,978 (GRCm39) N294K probably benign Het
Tcp11l2 T A 10: 84,449,470 (GRCm39) Y478* probably null Het
Tcte1 T A 17: 45,852,128 (GRCm39) S454T probably benign Het
Thsd4 C T 9: 60,335,598 (GRCm39) V105I probably damaging Het
Tpgs1 G A 10: 79,505,289 (GRCm39) V16M probably benign Het
Ttn G T 2: 76,797,447 (GRCm39) T539K probably benign Het
Usp24 A G 4: 106,293,557 (GRCm39) S2542G probably benign Het
Vmn2r44 A T 7: 8,380,864 (GRCm39) L343H probably damaging Het
Zmat2 T A 18: 36,927,392 (GRCm39) Y21N probably damaging Het
Zyx C T 6: 42,334,327 (GRCm39) A517V probably damaging 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
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
R3435: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
Posted On 2015-04-16