Incidental Mutation 'R8698:Tmem117'
ID 668879
Institutional Source Beutler Lab
Gene Symbol Tmem117
Ensembl Gene ENSMUSG00000063296
Gene Name transmembrane protein 117
Synonyms B930062P21Rik
MMRRC Submission 068552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R8698 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 94527113-94993979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94535990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 8 (Y8F)
Ref Sequence ENSEMBL: ENSMUSP00000079038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080141]
AlphaFold Q8BH18
Predicted Effect probably benign
Transcript: ENSMUST00000080141
AA Change: Y8F

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: Y8F

DomainStartEndE-ValueType
Pfam:TMEM117 4 416 1.1e-235 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,247,250 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,306,714 (GRCm39) N1384S probably benign Het
Adgre1 T C 17: 57,709,003 (GRCm39) S65P probably benign Het
Adgrl4 G T 3: 151,203,512 (GRCm39) C124F probably damaging Het
Aldh1b1 G A 4: 45,802,942 (GRCm39) G160D probably damaging Het
Alpi T G 1: 87,028,208 (GRCm39) D205A probably damaging Het
AW146154 C A 7: 41,129,934 (GRCm39) R394L probably benign Het
Bcl10 G A 3: 145,639,022 (GRCm39) M221I probably benign Het
Brpf3 G A 17: 29,037,436 (GRCm39) R768H probably damaging Het
Cad G T 5: 31,234,819 (GRCm39) R2116L probably benign Het
Cand2 G T 6: 115,763,852 (GRCm39) R258L probably damaging Het
Car4 A T 11: 84,855,009 (GRCm39) N119I probably benign Het
Carmil1 C T 13: 24,220,229 (GRCm39) G1165D probably damaging Het
Ccdc66 T C 14: 27,212,647 (GRCm39) T403A probably benign Het
Cdon T G 9: 35,398,269 (GRCm39) probably null Het
Cemip T C 7: 83,607,790 (GRCm39) I739V probably damaging Het
Cep85l A G 10: 53,234,201 (GRCm39) I59T probably damaging Het
Clec4f A T 6: 83,630,267 (GRCm39) V97D probably benign Het
Cnot6l A G 5: 96,225,149 (GRCm39) C515R probably damaging Het
Cntnap2 G A 6: 47,026,156 (GRCm39) G935D probably damaging Het
Cntrl A G 2: 35,023,974 (GRCm39) H553R probably damaging Het
Cops3 A G 11: 59,708,886 (GRCm39) S423P probably damaging Het
Cox15 C T 19: 43,739,948 (GRCm39) R39H probably benign Het
Ctnna2 A G 6: 77,630,100 (GRCm39) V131A probably benign Het
Dcst2 T A 3: 89,276,044 (GRCm39) F392I probably benign Het
Decr1 A G 4: 15,922,483 (GRCm39) probably null Het
Dennd3 A C 15: 73,394,154 (GRCm39) T60P possibly damaging Het
Dipk1a A T 5: 108,057,776 (GRCm39) F261I probably damaging Het
Dmxl2 T C 9: 54,281,953 (GRCm39) N2859S probably benign Het
Dnah12 A T 14: 26,428,418 (GRCm39) I280F probably benign Het
Dnah8 A C 17: 31,094,009 (GRCm39) D4701A probably damaging Het
Dyrk1a C A 16: 94,487,414 (GRCm39) H541Q possibly damaging Het
Eml4 T C 17: 83,785,345 (GRCm39) S906P probably benign Het
Fam169a G T 13: 97,243,578 (GRCm39) V203F probably damaging Het
Fmn1 C T 2: 113,260,152 (GRCm39) L682F unknown Het
Gli2 T C 1: 118,769,887 (GRCm39) Y555C probably damaging Het
Gm3278 A G 14: 16,081,505 (GRCm39) Y130C possibly damaging Het
Gm8237 T A 14: 5,863,554 (GRCm38) Y37F probably damaging Het
Golga4 T G 9: 118,385,029 (GRCm39) L717R probably damaging Het
Gtpbp4 C T 13: 9,024,249 (GRCm39) R568H probably benign Het
Il1f10 A G 2: 24,183,197 (GRCm39) N47S probably damaging Het
Itga6 A G 2: 71,673,618 (GRCm39) H884R probably benign Het
Kdm1a T C 4: 136,286,518 (GRCm39) K482R probably benign Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 T A 2: 69,278,583 (GRCm39) R3923S probably benign Het
Lrp2 C T 2: 69,288,767 (GRCm39) V3700M probably benign Het
Lrrk2 A G 15: 91,636,400 (GRCm39) D1458G probably benign Het
Mapre2 T A 18: 24,011,090 (GRCm39) S233T probably benign Het
Mki67 T C 7: 135,296,937 (GRCm39) D2699G possibly damaging Het
Mthfr T A 4: 148,128,947 (GRCm39) Y214* probably null Het
Ncoa6 A T 2: 155,257,041 (GRCm39) M834K possibly damaging Het
Neurl2 C T 2: 164,675,054 (GRCm39) D103N probably benign Het
Niban3 T A 8: 72,060,159 (GRCm39) I93N unknown Het
Or1j15 T C 2: 36,458,915 (GRCm39) Y102H possibly damaging Het
Or2ag16 A T 7: 106,352,571 (GRCm39) V8E probably benign Het
Or2b7 G A 13: 21,739,890 (GRCm39) L101F probably damaging Het
P2ry14 A G 3: 59,022,596 (GRCm39) V288A possibly damaging Het
Pde6b G T 5: 108,576,105 (GRCm39) S730I possibly damaging Het
Pdpk1 A T 17: 24,298,542 (GRCm39) V496D probably damaging Het
Plekho2 A T 9: 65,463,554 (GRCm39) L432M probably damaging Het
Ppa2 T C 3: 133,082,362 (GRCm39) L151P unknown Het
Ppp2r3c G A 12: 55,328,499 (GRCm39) T422I probably benign Het
Prelid3a T C 18: 67,610,122 (GRCm39) S151P probably damaging Het
Rad21l G A 2: 151,487,373 (GRCm39) P537L probably damaging Het
Sacs T A 14: 61,450,802 (GRCm39) S4283T probably benign Het
Samd9l A T 6: 3,373,843 (GRCm39) D1139E probably benign Het
Scn9a G T 2: 66,366,628 (GRCm39) H718Q probably benign Het
Slc1a3 A T 15: 8,668,636 (GRCm39) I443N probably damaging Het
Slc22a6 A G 19: 8,600,889 (GRCm39) M361V probably benign Het
Slc8a2 A G 7: 15,891,132 (GRCm39) Y724C probably damaging Het
Slf1 A T 13: 77,197,284 (GRCm39) S777T possibly damaging Het
Sltm T C 9: 70,494,352 (GRCm39) S901P probably benign Het
Smc1b A T 15: 84,997,047 (GRCm39) H524Q probably benign Het
Spast T C 17: 74,666,341 (GRCm39) S225P probably benign Het
Srsf12 C T 4: 33,231,246 (GRCm39) R252W probably damaging Het
Syne1 A G 10: 5,179,229 (GRCm39) L4415P probably damaging Het
Tmem241 T C 18: 12,197,288 (GRCm39) D180G possibly damaging Het
Tomm40 C T 7: 19,444,890 (GRCm39) V164I probably benign Het
Ttc41 T C 10: 86,548,841 (GRCm39) Y12H probably benign Het
Twnk T C 19: 44,996,299 (GRCm39) V244A probably benign Het
Ugt1a8 T C 1: 88,015,952 (GRCm39) S122P probably damaging Het
Vmn1r78 A G 7: 11,886,539 (GRCm39) K50R probably benign Het
Vmn2r10 A G 5: 109,151,390 (GRCm39) F75L probably benign Het
Wbp4 G T 14: 79,707,573 (GRCm39) Y179* probably null Het
Zfp106 A G 2: 120,354,600 (GRCm39) probably null Het
Zfp974 A T 7: 27,610,361 (GRCm39) C455S possibly 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
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
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
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'- AGTTAACTTTCTTCAGCTTGAGGC -3'
(R):5'- GCCAGTAGCCATAGAAGCAC -3'

Sequencing Primer
(F):5'- GCTTGTTCTGGTGCCATAGG -3'
(R):5'- GTAGCCATAGAAGCACCTTCAAAATC -3'
Posted On 2021-04-30