Incidental Mutation 'IGL01528:Tmem117'
| ID |
89631 |
| 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 # |
IGL01528
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
94527113-94993979 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94992545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 402
(I402L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080141]
[ENSMUST00000229933]
|
| AlphaFold |
Q8BH18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080141
AA Change: I402L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: I402L
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
A |
9: 21,451,190 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,630,311 (GRCm39) |
F2S |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,381,403 (GRCm39) |
R598G |
possibly damaging |
Het |
| Cemip2 |
T |
C |
19: 21,812,909 (GRCm39) |
V1038A |
possibly damaging |
Het |
| Dusp22 |
C |
T |
13: 30,889,611 (GRCm39) |
T64I |
probably benign |
Het |
| Gfer |
T |
A |
17: 24,914,903 (GRCm39) |
T47S |
probably benign |
Het |
| Gfra2 |
T |
C |
14: 71,203,738 (GRCm39) |
S296P |
possibly damaging |
Het |
| Gjb2 |
G |
A |
14: 57,338,125 (GRCm39) |
L28F |
probably damaging |
Het |
| Gm17782 |
A |
G |
17: 36,472,682 (GRCm39) |
|
probably benign |
Het |
| Gm2832 |
T |
C |
14: 41,003,670 (GRCm39) |
V167A |
unknown |
Het |
| Gpr155 |
A |
G |
2: 73,192,767 (GRCm39) |
|
probably null |
Het |
| Gpr45 |
A |
G |
1: 43,072,383 (GRCm39) |
H342R |
probably benign |
Het |
| Gsdmd |
A |
T |
15: 75,735,354 (GRCm39) |
T33S |
possibly damaging |
Het |
| Hal |
T |
A |
10: 93,333,455 (GRCm39) |
L341Q |
probably damaging |
Het |
| Igfbp7 |
T |
G |
5: 77,499,179 (GRCm39) |
D273A |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,393,083 (GRCm39) |
D424G |
probably benign |
Het |
| Kif13a |
C |
T |
13: 47,018,313 (GRCm39) |
|
probably benign |
Het |
| Krt35 |
A |
T |
11: 99,985,420 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,809,194 (GRCm39) |
D2572E |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,322,804 (GRCm39) |
V1848A |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,686,957 (GRCm39) |
Y21H |
probably damaging |
Het |
| Ncan |
G |
T |
8: 70,562,731 (GRCm39) |
A509E |
probably benign |
Het |
| Or2q1 |
T |
C |
6: 42,795,208 (GRCm39) |
S268P |
probably damaging |
Het |
| Pde11a |
G |
A |
2: 76,025,300 (GRCm39) |
|
probably benign |
Het |
| Phf19 |
G |
T |
2: 34,787,119 (GRCm39) |
D448E |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,282,488 (GRCm39) |
V799D |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,349,634 (GRCm39) |
Y7* |
probably null |
Het |
| Sema3c |
A |
G |
5: 17,919,413 (GRCm39) |
H483R |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,527,328 (GRCm39) |
|
probably benign |
Het |
| St3gal1 |
C |
A |
15: 66,984,466 (GRCm39) |
R103L |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,186,059 (GRCm39) |
V1126E |
possibly damaging |
Het |
| Ttc28 |
T |
A |
5: 111,249,826 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,702,182 (GRCm39) |
|
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,532 (GRCm39) |
M243L |
probably benign |
Het |
| Wnt1 |
G |
T |
15: 98,689,714 (GRCm39) |
W167L |
probably damaging |
Het |
| Zfp553 |
G |
T |
7: 126,835,387 (GRCm39) |
S314I |
probably damaging |
Het |
| Zranb2 |
T |
C |
3: 157,250,602 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmem117 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-12-03 |
Incidental Mutation