Incidental Mutation 'IGL02342:Tmem117'
ID289129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem117
Ensembl Gene ENSMUSG00000063296
Gene Nametransmembrane protein 117
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #IGL02342
Quality Score
Status
Chromosome15
Chromosomal Location94629232-95096098 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95011450 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 248 (V248A)
Ref Sequence ENSEMBL: ENSMUSP00000079038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080141]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080141
AA Change: V248A

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: V248A

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik C A 10: 43,175,001 P97Q probably damaging Het
Abcb10 A T 8: 123,962,034 V501E probably damaging Het
Acsf3 T C 8: 122,817,498 Y572H probably benign Het
Adamts3 A T 5: 89,691,473 probably null Het
Alox8 A G 11: 69,186,227 L480P probably damaging Het
Arhgap35 G A 7: 16,562,380 T920I probably benign Het
Brca2 C A 5: 150,542,824 L2018M possibly damaging Het
Brdt C A 5: 107,342,203 H45N probably damaging Het
C1s2 A G 6: 124,632,116 F155L probably damaging Het
Ccser2 A G 14: 36,918,605 probably benign Het
Cd8a T A 6: 71,373,739 C63S probably damaging Het
Clk2 A T 3: 89,175,691 T424S probably benign Het
Cntn1 A G 15: 92,246,017 E287G probably benign Het
Cobl A C 11: 12,253,672 V928G possibly damaging Het
Col12a1 A G 9: 79,649,896 probably null Het
Crnkl1 A T 2: 145,924,713 probably null Het
Defb26 T C 2: 152,508,201 N53S possibly damaging Het
Duox1 A T 2: 122,347,312 T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 L1233P probably damaging Het
Eif5a2 A G 3: 28,793,761 E116G possibly damaging Het
Fam208a T A 14: 27,476,667 S1319T possibly damaging Het
Fam71f1 A G 6: 29,323,830 T185A possibly damaging Het
Gdap2 G A 3: 100,178,316 A185T probably damaging Het
Grm8 T C 6: 27,363,804 R571G probably benign Het
Hfe2 G A 3: 96,528,172 D249N possibly damaging Het
Hsp90b1 T C 10: 86,695,739 probably null Het
Ighv1-75 T G 12: 115,834,258 probably benign Het
Ikzf1 A G 11: 11,700,216 probably benign Het
Kdm4d A G 9: 14,463,564 W333R probably damaging Het
Lama3 A T 18: 12,491,476 N1426I probably damaging Het
Lmbrd1 A G 1: 24,704,878 Y119C probably damaging Het
Mctp1 A G 13: 77,024,857 Y884C probably damaging Het
Naip6 G T 13: 100,303,240 P340T possibly damaging Het
Nfkbib G T 7: 28,762,103 H70N probably damaging Het
Nol4 A T 18: 22,770,869 probably benign Het
Obscn C T 11: 59,001,088 A6873T probably benign Het
Olfr66 T A 7: 103,881,380 I288F probably benign Het
Olfr705 A G 7: 106,714,025 S219P probably benign Het
Olfr986 T A 9: 40,187,527 N137K probably benign Het
Paqr6 A G 3: 88,366,184 Y136C probably damaging Het
Pcdh18 T A 3: 49,756,044 D274V probably damaging Het
Phip A G 9: 82,886,692 Y1196H probably damaging Het
Prc1 T C 7: 80,309,442 L345S probably damaging Het
Smpdl3a A G 10: 57,809,180 probably benign Het
Ssfa2 A G 2: 79,660,285 N943S probably benign Het
Tac1 G T 6: 7,559,119 probably null Het
Tg A G 15: 66,764,291 T576A probably benign Het
Thbs2 A T 17: 14,676,316 D770E probably damaging Het
Trpm8 T C 1: 88,328,250 I209T possibly damaging Het
Ttc30a1 G T 2: 75,980,632 T369K probably benign Het
Wrap53 A G 11: 69,563,591 F244L probably damaging Het
Wrap73 A T 4: 154,148,780 Q137L probably benign Het
Zfhx4 A T 3: 5,402,374 T2531S probably benign Het
Other mutations in Tmem117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Tmem117 APN 15 95094664 missense probably benign
IGL02418:Tmem117 APN 15 94931884 missense probably benign 0.10
IGL02651:Tmem117 APN 15 95094561 missense probably damaging 1.00
IGL02740:Tmem117 APN 15 94714982 missense probably benign 0.00
IGL02819:Tmem117 APN 15 94879372 splice site probably benign
IGL02881:Tmem117 APN 15 94879425 missense probably damaging 1.00
IGL02887:Tmem117 APN 15 95094775 missense probably damaging 1.00
IGL03371:Tmem117 APN 15 95011393 missense probably damaging 1.00
R0464:Tmem117 UTSW 15 94714919 missense probably damaging 0.98
R0539:Tmem117 UTSW 15 94714912 missense possibly damaging 0.63
R1029:Tmem117 UTSW 15 95011336 missense probably benign
R1424:Tmem117 UTSW 15 94931808 missense probably benign 0.35
R1439:Tmem117 UTSW 15 95094597 missense probably benign
R1498:Tmem117 UTSW 15 94638361 missense probably damaging 1.00
R1604:Tmem117 UTSW 15 95094544 missense probably damaging 1.00
R1746:Tmem117 UTSW 15 94931833 missense possibly damaging 0.55
R1829:Tmem117 UTSW 15 95094551 missense probably damaging 1.00
R3434:Tmem117 UTSW 15 95094692 missense probably damaging 0.98
R3435:Tmem117 UTSW 15 95094692 missense probably damaging 0.98
R4560:Tmem117 UTSW 15 95094796 missense probably benign 0.00
R4561:Tmem117 UTSW 15 95094796 missense probably benign 0.00
R4562:Tmem117 UTSW 15 95094796 missense probably benign 0.00
R4563:Tmem117 UTSW 15 94638154 missense possibly damaging 0.95
R4777:Tmem117 UTSW 15 95094450 nonsense probably null
R4854:Tmem117 UTSW 15 95094688 missense probably damaging 0.97
R5051:Tmem117 UTSW 15 94714913 missense probably damaging 0.96
R5472:Tmem117 UTSW 15 95094513 missense possibly damaging 0.91
R5485:Tmem117 UTSW 15 95094830 missense probably benign 0.00
R5488:Tmem117 UTSW 15 95094817 frame shift probably null
R5595:Tmem117 UTSW 15 95094884 missense probably damaging 0.99
R5648:Tmem117 UTSW 15 95094772 missense possibly damaging 0.88
R5892:Tmem117 UTSW 15 94638139 missense probably damaging 0.99
R5901:Tmem117 UTSW 15 94714958 missense probably benign 0.08
R6334:Tmem117 UTSW 15 95011443 missense probably benign 0.01
R7216:Tmem117 UTSW 15 94714912 missense possibly damaging 0.91
R7266:Tmem117 UTSW 15 94931803 missense possibly damaging 0.82
R7414:Tmem117 UTSW 15 94714895 missense probably damaging 1.00
R7445:Tmem117 UTSW 15 94714918 missense probably benign 0.05
Posted On2015-04-16