Incidental Mutation 'IGL03371:Tmem117'
ID |
420288 |
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 # |
IGL03371
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
94527113-94993979 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94909274 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 229
(R229H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080141]
|
AlphaFold |
Q8BH18 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080141
AA Change: R229H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079038 Gene: ENSMUSG00000063296 AA Change: R229H
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agk |
C |
T |
6: 40,371,576 (GRCm39) |
R358C |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,981,592 (GRCm39) |
V959F |
possibly damaging |
Het |
Aoc1 |
C |
T |
6: 48,883,380 (GRCm39) |
R419C |
probably benign |
Het |
Brf2 |
T |
C |
8: 27,615,872 (GRCm39) |
D171G |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,501,344 (GRCm39) |
I75V |
possibly damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,078,719 (GRCm39) |
V1199A |
probably damaging |
Het |
Dpp9 |
G |
A |
17: 56,494,377 (GRCm39) |
H861Y |
probably benign |
Het |
Eddm3b |
G |
A |
14: 51,354,422 (GRCm39) |
D137N |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,433,114 (GRCm39) |
I363F |
probably damaging |
Het |
F13b |
T |
A |
1: 139,434,674 (GRCm39) |
C147S |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,178,258 (GRCm39) |
E356G |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,201,990 (GRCm39) |
R361S |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,037,336 (GRCm39) |
I3663F |
possibly damaging |
Het |
Haus3 |
C |
A |
5: 34,323,687 (GRCm39) |
E308* |
probably null |
Het |
Ifna11 |
A |
G |
4: 88,738,412 (GRCm39) |
K73E |
probably benign |
Het |
Itga10 |
A |
G |
3: 96,562,104 (GRCm39) |
K664E |
possibly damaging |
Het |
L3mbtl4 |
G |
A |
17: 68,768,563 (GRCm39) |
V224M |
probably damaging |
Het |
Mcf2l |
C |
A |
8: 13,051,298 (GRCm39) |
A378D |
probably damaging |
Het |
Mixl1 |
T |
C |
1: 180,522,191 (GRCm39) |
N230S |
probably benign |
Het |
Ncbp1 |
T |
A |
4: 46,171,991 (GRCm39) |
C786* |
probably null |
Het |
Nup153 |
C |
T |
13: 46,836,628 (GRCm39) |
S1327N |
probably benign |
Het |
Or4c12b |
A |
T |
2: 89,647,509 (GRCm39) |
T280S |
possibly damaging |
Het |
Or8k18 |
A |
T |
2: 86,085,935 (GRCm39) |
I34N |
possibly damaging |
Het |
Osr2 |
C |
A |
15: 35,301,000 (GRCm39) |
Y185* |
probably null |
Het |
Ppp1r3b |
T |
C |
8: 35,851,403 (GRCm39) |
F81L |
possibly damaging |
Het |
Ppp3r2 |
T |
A |
4: 49,681,630 (GRCm39) |
I107F |
probably damaging |
Het |
Rin2 |
G |
A |
2: 145,727,846 (GRCm39) |
|
probably benign |
Het |
Rpap1 |
A |
T |
2: 119,605,538 (GRCm39) |
|
probably benign |
Het |
Slc12a4 |
A |
G |
8: 106,677,137 (GRCm39) |
Y466H |
probably null |
Het |
Slc25a40 |
C |
T |
5: 8,477,442 (GRCm39) |
P9L |
probably benign |
Het |
Slc27a1 |
T |
C |
8: 72,038,052 (GRCm39) |
S567P |
probably benign |
Het |
Sox8 |
G |
A |
17: 25,786,414 (GRCm39) |
R430C |
probably damaging |
Het |
Tacc2 |
T |
C |
7: 130,227,791 (GRCm39) |
V1492A |
possibly damaging |
Het |
Taf5l |
A |
G |
8: 124,724,725 (GRCm39) |
S365P |
possibly damaging |
Het |
Tet2 |
T |
A |
3: 133,173,312 (GRCm39) |
H1650L |
possibly damaging |
Het |
Ttc17 |
A |
G |
2: 94,216,450 (GRCm39) |
L79P |
probably damaging |
Het |
Usp54 |
A |
T |
14: 20,639,436 (GRCm39) |
|
probably benign |
Het |
Zfp455 |
T |
A |
13: 67,355,066 (GRCm39) |
C111* |
probably null |
Het |
Zmym4 |
A |
C |
4: 126,808,881 (GRCm39) |
C389G |
possibly 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 |
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 |
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 |
2016-08-02 |