Incidental Mutation 'R4561:Tmem117'
ID |
343110 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem117
|
Ensembl Gene |
ENSMUSG00000063296 |
Gene Name |
transmembrane protein 117 |
Synonyms |
B930062P21Rik |
MMRRC Submission |
041786-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R4561 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
T |
C |
10: 69,837,848 (GRCm39) |
S1601P |
probably damaging |
Het |
Arnt |
A |
G |
3: 95,359,924 (GRCm39) |
N56D |
probably damaging |
Het |
Atad5 |
A |
G |
11: 79,986,715 (GRCm39) |
T601A |
probably benign |
Het |
Calr4 |
A |
G |
4: 109,103,379 (GRCm39) |
N163S |
probably damaging |
Het |
Cenpc1 |
C |
A |
5: 86,195,491 (GRCm39) |
A93S |
probably damaging |
Het |
Cep135 |
C |
T |
5: 76,786,040 (GRCm39) |
H1048Y |
possibly damaging |
Het |
Ctnna2 |
A |
G |
6: 77,613,696 (GRCm39) |
|
probably null |
Het |
Ddx60 |
T |
C |
8: 62,395,495 (GRCm39) |
L144P |
probably damaging |
Het |
Dera |
A |
T |
6: 137,757,736 (GRCm39) |
T96S |
possibly damaging |
Het |
Dock9 |
T |
A |
14: 121,796,419 (GRCm39) |
M1853L |
probably benign |
Het |
Erbb4 |
G |
A |
1: 68,383,080 (GRCm39) |
R306* |
probably null |
Het |
Glyat |
G |
T |
19: 12,628,644 (GRCm39) |
L146F |
possibly damaging |
Het |
Grk4 |
C |
A |
5: 34,852,157 (GRCm39) |
Q134K |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,245,618 (GRCm39) |
Q181R |
probably benign |
Het |
Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
Ipo4 |
C |
T |
14: 55,867,546 (GRCm39) |
|
probably benign |
Het |
Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
Kcnd2 |
A |
G |
6: 21,216,395 (GRCm39) |
Q33R |
probably benign |
Het |
Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
Klhl30 |
A |
T |
1: 91,288,753 (GRCm39) |
H504L |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,881,439 (GRCm39) |
Y101C |
possibly damaging |
Het |
Mfn2 |
C |
A |
4: 147,961,492 (GRCm39) |
R707L |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
Neb |
A |
T |
2: 52,176,167 (GRCm39) |
Y1431N |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,203,774 (GRCm39) |
T625A |
probably damaging |
Het |
Or5g27 |
G |
T |
2: 85,409,964 (GRCm39) |
C127F |
probably damaging |
Het |
Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,604,943 (GRCm39) |
L1124Q |
possibly damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,754,681 (GRCm39) |
F189L |
probably damaging |
Het |
Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Slc22a22 |
T |
A |
15: 57,126,781 (GRCm39) |
Q77L |
probably damaging |
Het |
Slc24a2 |
A |
T |
4: 87,145,634 (GRCm39) |
V140D |
probably damaging |
Het |
Slc35g2 |
C |
A |
9: 100,435,287 (GRCm39) |
R128L |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
Spag7 |
T |
C |
11: 70,555,816 (GRCm39) |
I80M |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,758,015 (GRCm39) |
M164T |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,452,468 (GRCm39) |
|
probably null |
Het |
Tcte2 |
T |
C |
17: 13,942,864 (GRCm39) |
|
probably benign |
Het |
Tmtc4 |
T |
C |
14: 123,200,710 (GRCm39) |
T194A |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,016,562 (GRCm39) |
Y1269C |
probably damaging |
Het |
Zfp236 |
A |
T |
18: 82,638,531 (GRCm39) |
I1363N |
probably damaging |
Het |
Zfp760 |
T |
A |
17: 21,942,648 (GRCm39) |
S608T |
probably benign |
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 |
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'- CATGTTCTTACACAGCAGGTTC -3'
(R):5'- TCATCCTTTGAGAGGCTGCC -3'
Sequencing Primer
(F):5'- TCTTACACAGCAGGTTCATAGGG -3'
(R):5'- TGCCGGCTCTTGCTCAG -3'
|
Posted On |
2015-09-24 |