Incidental Mutation 'R4562:Tmem117'
| ID |
343166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem117
|
| Ensembl Gene |
ENSMUSG00000063296 |
| Gene Name |
transmembrane protein 117 |
| Synonyms |
B930062P21Rik |
| MMRRC Submission |
041787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R4562 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
94527113-94993979 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94992677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 446
(M446L)
|
| 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: M446L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: M446L
| 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 |
0.0812 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
A |
3: 36,120,331 (GRCm39) |
R25K |
probably benign |
Het |
| Acap1 |
C |
T |
11: 69,776,177 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,098,215 (GRCm39) |
L309P |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,162,094 (GRCm39) |
D17G |
probably damaging |
Het |
| Atp8b1 |
A |
T |
18: 64,689,962 (GRCm39) |
V590D |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Cad |
G |
A |
5: 31,215,477 (GRCm39) |
S96N |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,763,240 (GRCm39) |
T1303A |
probably benign |
Het |
| Defa24 |
A |
G |
8: 22,224,523 (GRCm39) |
|
probably benign |
Het |
| Dffb |
A |
G |
4: 154,049,913 (GRCm39) |
C317R |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,821,778 (GRCm39) |
V711A |
probably benign |
Het |
| Esco1 |
A |
G |
18: 10,595,074 (GRCm39) |
S71P |
possibly damaging |
Het |
| Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
| Gm10797 |
A |
G |
10: 67,408,515 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10822 |
C |
T |
2: 73,729,833 (GRCm39) |
|
noncoding transcript |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Ift22 |
A |
G |
5: 136,941,724 (GRCm39) |
E152G |
probably benign |
Het |
| Ighv3-5 |
T |
A |
12: 114,226,498 (GRCm39) |
T25S |
possibly damaging |
Het |
| Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
| Kcna5 |
T |
C |
6: 126,511,303 (GRCm39) |
H275R |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Klf14 |
G |
A |
6: 30,935,394 (GRCm39) |
A80V |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
A |
11: 58,273,215 (GRCm39) |
|
probably null |
Het |
| Mef2b |
G |
A |
8: 70,619,918 (GRCm39) |
D345N |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,963,907 (GRCm39) |
T214M |
possibly damaging |
Het |
| Or10g9b |
A |
G |
9: 39,917,577 (GRCm39) |
S223P |
probably damaging |
Het |
| Or13g1 |
A |
G |
7: 85,956,360 (GRCm39) |
|
probably benign |
Het |
| Or4f4b |
A |
T |
2: 111,313,909 (GRCm39) |
M45L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,459,252 (GRCm39) |
|
probably null |
Het |
| P4htm |
T |
C |
9: 108,459,195 (GRCm39) |
S246G |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
| Pde6b |
A |
G |
5: 108,551,234 (GRCm39) |
K173E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Plekhh2 |
A |
G |
17: 84,873,525 (GRCm39) |
D270G |
probably benign |
Het |
| Prr5 |
A |
C |
15: 84,626,114 (GRCm39) |
D63A |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
C |
A |
7: 28,774,005 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
G |
A |
5: 31,689,373 (GRCm39) |
V347M |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,188,265 (GRCm39) |
T904A |
possibly damaging |
Het |
| Tln1 |
C |
A |
4: 43,533,598 (GRCm39) |
A2319S |
probably damaging |
Het |
| Tm6sf1 |
G |
A |
7: 81,509,209 (GRCm39) |
A5T |
probably damaging |
Het |
| Tnfrsf22 |
C |
T |
7: 143,203,313 (GRCm39) |
R19Q |
unknown |
Het |
| Tnfsf11 |
T |
C |
14: 78,516,020 (GRCm39) |
D316G |
probably damaging |
Het |
| Trerf1 |
G |
A |
17: 47,637,997 (GRCm39) |
|
noncoding transcript |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 102,957,720 (GRCm39) |
T45I |
probably damaging |
Het |
| Usp3 |
G |
T |
9: 66,428,047 (GRCm39) |
|
probably benign |
Het |
| Vmn2r-ps158 |
C |
T |
7: 42,672,986 (GRCm39) |
Q130* |
probably null |
Het |
| Wdr31 |
A |
C |
4: 62,372,159 (GRCm39) |
L319W |
probably damaging |
Het |
| Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
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 |
|
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 |
|
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'- AGGTGACATGTTCTTACACAGCAG -3'
(R):5'- TCATCCTTTGAGAGGCTGCC -3'
Sequencing Primer
(F):5'- TCTTACACAGCAGGTTCATAGGG -3'
(R):5'- TGCCGGCTCTTGCTCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation