Incidental Mutation 'R1029:Tmem117'
ID |
95174 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem117
|
Ensembl Gene |
ENSMUSG00000063296 |
Gene Name |
transmembrane protein 117 |
Synonyms |
B930062P21Rik |
MMRRC Submission |
039131-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R1029 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
94527113-94993979 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 94909217 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 210
(T210N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080141]
|
AlphaFold |
Q8BH18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080141
AA Change: T210N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000079038 Gene: ENSMUSG00000063296 AA Change: T210N
Domain | Start | End | E-Value | Type |
Pfam:TMEM117
|
4 |
416 |
1.1e-235 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.5%
|
Validation Efficiency |
92% (36/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
A |
G |
11: 30,376,177 (GRCm39) |
L230S |
probably damaging |
Het |
4930505A04Rik |
A |
G |
11: 30,396,389 (GRCm39) |
|
probably benign |
Het |
Atg2b |
A |
G |
12: 105,602,032 (GRCm39) |
I1648T |
probably damaging |
Het |
Ccdc110 |
T |
C |
8: 46,394,817 (GRCm39) |
F236S |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,230,782 (GRCm39) |
D363G |
possibly damaging |
Het |
Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
Cog7 |
C |
T |
7: 121,529,752 (GRCm39) |
|
probably null |
Het |
Dnah7c |
A |
G |
1: 46,651,881 (GRCm39) |
K1365E |
probably damaging |
Het |
Dock9 |
T |
C |
14: 121,837,096 (GRCm39) |
|
probably null |
Het |
Ehd3 |
T |
A |
17: 74,123,321 (GRCm39) |
I108N |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,348,773 (GRCm39) |
S535P |
probably damaging |
Het |
Fam170a |
T |
C |
18: 50,414,741 (GRCm39) |
V129A |
probably damaging |
Het |
Gfra3 |
T |
C |
18: 34,823,892 (GRCm39) |
T361A |
probably benign |
Het |
Gm10295 |
A |
T |
7: 71,000,448 (GRCm39) |
I44K |
unknown |
Het |
Gm10553 |
T |
C |
1: 85,078,170 (GRCm39) |
S96P |
probably benign |
Het |
Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
Hspa13 |
A |
T |
16: 75,562,125 (GRCm39) |
Y25N |
probably damaging |
Het |
Lrfn3 |
G |
A |
7: 30,055,347 (GRCm39) |
P533S |
probably damaging |
Het |
Lrp4 |
A |
G |
2: 91,317,372 (GRCm39) |
|
probably benign |
Het |
Mical3 |
T |
C |
6: 120,911,639 (GRCm39) |
D1991G |
probably benign |
Het |
Myoz1 |
A |
G |
14: 20,700,600 (GRCm39) |
Y206H |
probably damaging |
Het |
Or2at1 |
A |
T |
7: 99,416,431 (GRCm39) |
I21F |
probably benign |
Het |
Otog |
A |
G |
7: 45,924,019 (GRCm39) |
E1126G |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,472,613 (GRCm39) |
|
probably benign |
Het |
Pttg1ip2 |
C |
T |
5: 5,505,919 (GRCm39) |
A121T |
probably benign |
Het |
Rab7 |
A |
G |
6: 87,990,624 (GRCm39) |
S17P |
probably damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Sppl2a |
A |
G |
2: 126,765,514 (GRCm39) |
S203P |
probably benign |
Het |
Taar7a |
A |
G |
10: 23,868,439 (GRCm39) |
I314T |
possibly damaging |
Het |
Tgs1 |
T |
C |
4: 3,593,471 (GRCm39) |
I453T |
probably damaging |
Het |
Trim55 |
A |
G |
3: 19,698,906 (GRCm39) |
N45S |
probably damaging |
Het |
Ugt2b34 |
G |
C |
5: 87,052,246 (GRCm39) |
S250* |
probably null |
Het |
Vmn2r67 |
G |
A |
7: 84,785,974 (GRCm39) |
T677I |
probably damaging |
Het |
Zfp335 |
C |
G |
2: 164,734,598 (GRCm39) |
|
probably benign |
Het |
Znrf1 |
T |
A |
8: 112,263,986 (GRCm39) |
Y72N |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCCAGGGGCCACTTACCTTTTC -3'
(R):5'- AACGTGGACACTCACCTGCATC -3'
Sequencing Primer
(F):5'- GGATGCTACCATGtttattgttttg -3'
(R):5'- CCTGCATCACAATAAGGAGGTC -3'
|
Posted On |
2014-01-05 |