Incidental Mutation 'R3434:Tmem117'
ID |
266365 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem117
|
Ensembl Gene |
ENSMUSG00000063296 |
Gene Name |
transmembrane protein 117 |
Synonyms |
B930062P21Rik |
MMRRC Submission |
040652-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R3434 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
94527113-94993979 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94992573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 411
(I411T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080141]
[ENSMUST00000229933]
|
AlphaFold |
Q8BH18 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080141
AA Change: I411T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079038 Gene: ENSMUSG00000063296 AA Change: I411T
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
|
Meta Mutation Damage Score |
0.1689 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
A |
17: 24,508,511 (GRCm39) |
A1008V |
probably damaging |
Het |
Adora3 |
A |
G |
3: 105,812,231 (GRCm39) |
K39R |
probably benign |
Het |
Ankib1 |
A |
G |
5: 3,742,760 (GRCm39) |
V1085A |
probably damaging |
Het |
Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
Azin1 |
T |
C |
15: 38,493,820 (GRCm39) |
I268V |
probably benign |
Het |
Carm1 |
T |
C |
9: 21,480,769 (GRCm39) |
F81S |
probably damaging |
Het |
Ccnjl |
A |
G |
11: 43,470,688 (GRCm39) |
Y152C |
probably damaging |
Het |
Chrna3 |
T |
A |
9: 54,931,610 (GRCm39) |
I61F |
possibly damaging |
Het |
Clca3a2 |
G |
A |
3: 144,514,522 (GRCm39) |
|
probably benign |
Het |
Clstn2 |
T |
A |
9: 97,336,768 (GRCm39) |
D903V |
probably benign |
Het |
Dpysl3 |
C |
T |
18: 43,494,126 (GRCm39) |
V70I |
probably benign |
Het |
Drg2 |
A |
T |
11: 60,352,218 (GRCm39) |
K180* |
probably null |
Het |
Dync2h1 |
A |
C |
9: 7,011,236 (GRCm39) |
H3659Q |
probably benign |
Het |
Dysf |
A |
T |
6: 84,047,870 (GRCm39) |
Y349F |
probably benign |
Het |
Epb41l4b |
T |
C |
4: 57,040,865 (GRCm39) |
N533D |
probably benign |
Het |
Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
Fasn |
G |
A |
11: 120,713,599 (GRCm39) |
A24V |
probably damaging |
Het |
Fhl4 |
T |
C |
10: 84,934,308 (GRCm39) |
T158A |
probably benign |
Het |
Fnbp1l |
C |
T |
3: 122,339,955 (GRCm39) |
R499Q |
probably damaging |
Het |
Hdlbp |
A |
T |
1: 93,355,883 (GRCm39) |
M358K |
probably benign |
Het |
Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
Lhx4 |
A |
G |
1: 155,578,147 (GRCm39) |
Y332H |
probably damaging |
Het |
Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
Mrps23 |
A |
G |
11: 88,100,940 (GRCm39) |
K44E |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
Or2ag13 |
A |
T |
7: 106,472,976 (GRCm39) |
Y159N |
probably benign |
Het |
Or4a67 |
T |
C |
2: 88,598,413 (GRCm39) |
D82G |
probably damaging |
Het |
Or5w11 |
T |
C |
2: 87,459,418 (GRCm39) |
F204L |
probably benign |
Het |
P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
Phykpl |
A |
G |
11: 51,489,482 (GRCm39) |
T363A |
probably benign |
Het |
Pitpnm1 |
G |
A |
19: 4,162,234 (GRCm39) |
A1047T |
probably damaging |
Het |
Ppat |
A |
G |
5: 77,065,912 (GRCm39) |
I402T |
probably damaging |
Het |
Rpgr |
A |
G |
X: 10,042,841 (GRCm39) |
S656P |
probably benign |
Het |
Rsbn1l |
T |
C |
5: 21,110,928 (GRCm39) |
|
probably benign |
Het |
Sacs |
A |
G |
14: 61,449,752 (GRCm39) |
K3933E |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,505,847 (GRCm39) |
I1681V |
probably benign |
Het |
Sel1l3 |
T |
C |
5: 53,274,432 (GRCm39) |
D1016G |
probably benign |
Het |
Sf3a3 |
C |
A |
4: 124,618,870 (GRCm39) |
T277N |
possibly damaging |
Het |
Slc35a5 |
A |
G |
16: 44,964,396 (GRCm39) |
I279T |
probably benign |
Het |
Slc39a10 |
T |
C |
1: 46,874,877 (GRCm39) |
T142A |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,321,376 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,698,721 (GRCm39) |
T5A |
possibly damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,708,381 (GRCm39) |
|
probably null |
Het |
Ush2a |
C |
T |
1: 188,465,955 (GRCm39) |
P2841L |
probably damaging |
Het |
Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
probably benign |
Het |
Vmn2r91 |
A |
T |
17: 18,330,370 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACAGTATATTGGCCCAGGG -3'
(R):5'- ACCAAGGCAGGGTCATTCAG -3'
Sequencing Primer
(F):5'- CCCAGGGCAGAAGATATACACAGTG -3'
(R):5'- GGTCATTCAGAGGATCTTCCACAG -3'
|
Posted On |
2015-02-18 |