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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |