Incidental Mutation 'R5892:Tmem117'
| ID |
457266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem117
|
| Ensembl Gene |
ENSMUSG00000063296 |
| Gene Name |
transmembrane protein 117 |
| Synonyms |
B930062P21Rik |
| MMRRC Submission |
044093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R5892 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
94527113-94993979 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94536020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 18
(V18E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080141]
|
| AlphaFold |
Q8BH18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080141
AA Change: V18E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: V18E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM117
|
4 |
416 |
1.1e-235 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229677
|
| Meta Mutation Damage Score |
0.4857 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930524J08Rik |
G |
T |
5: 100,127,124 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,091,844 (GRCm39) |
A893T |
probably damaging |
Het |
| Adtrp |
A |
T |
13: 41,981,682 (GRCm39) |
N30K |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,597,885 (GRCm39) |
S904T |
probably damaging |
Het |
| Cep170 |
T |
A |
1: 176,582,953 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,946,994 (GRCm39) |
V145A |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,535,572 (GRCm39) |
E4G |
probably benign |
Het |
| Depdc1a |
G |
C |
3: 159,232,306 (GRCm39) |
A686P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,376,753 (GRCm39) |
|
probably null |
Het |
| Enox1 |
A |
G |
14: 77,723,457 (GRCm39) |
|
probably benign |
Het |
| Fam107b |
A |
G |
2: 3,779,601 (GRCm39) |
E268G |
probably damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,435,917 (GRCm39) |
S437G |
probably benign |
Het |
| Flnb |
C |
A |
14: 7,907,183 (GRCm38) |
T1252K |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,923,951 (GRCm39) |
|
probably benign |
Het |
| Gm20402 |
G |
A |
3: 52,176,370 (GRCm39) |
A50T |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gzmk |
C |
T |
13: 113,310,456 (GRCm39) |
|
probably null |
Het |
| Ino80 |
A |
T |
2: 119,270,028 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,223,813 (GRCm39) |
T677A |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,428,305 (GRCm39) |
E1220G |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,890,204 (GRCm39) |
T498A |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,273,120 (GRCm39) |
T4043S |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 15,619,078 (GRCm39) |
N314S |
probably benign |
Het |
| Mfsd1 |
A |
G |
3: 67,497,162 (GRCm39) |
|
probably null |
Het |
| Muc1 |
C |
T |
3: 89,138,300 (GRCm39) |
P381S |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,076,002 (GRCm39) |
K730* |
probably null |
Het |
| Nat3 |
T |
A |
8: 68,000,590 (GRCm39) |
N156K |
probably benign |
Het |
| Nelfe |
T |
C |
17: 35,073,645 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 70,990,471 (GRCm39) |
L927Q |
probably damaging |
Het |
| P4ha2 |
A |
G |
11: 54,011,014 (GRCm39) |
Y343C |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,571,185 (GRCm39) |
Q190L |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,945,439 (GRCm39) |
N183S |
probably damaging |
Het |
| Plekha2 |
C |
T |
8: 25,542,381 (GRCm39) |
V278I |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,940,775 (GRCm39) |
L1550P |
probably damaging |
Het |
| Ppox |
C |
T |
1: 171,105,034 (GRCm39) |
V385I |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,407,716 (GRCm39) |
D1170G |
possibly damaging |
Het |
| Prmt5 |
A |
T |
14: 54,747,368 (GRCm39) |
S470T |
probably damaging |
Het |
| Robo2 |
T |
A |
16: 73,692,668 (GRCm39) |
|
probably benign |
Het |
| Siglecg |
G |
A |
7: 43,061,628 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,949,810 (GRCm39) |
N367S |
probably damaging |
Het |
| Tex29 |
C |
T |
8: 11,904,288 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
C |
T |
10: 105,249,366 (GRCm39) |
M122I |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,283,151 (GRCm39) |
N287K |
probably benign |
Het |
| Unc93b1 |
A |
T |
19: 3,993,632 (GRCm39) |
D358V |
probably damaging |
Het |
| Vrk2 |
A |
T |
11: 26,484,372 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
T |
17: 26,046,960 (GRCm39) |
Q671L |
probably benign |
Het |
| Zfp110 |
C |
T |
7: 12,582,405 (GRCm39) |
T351I |
probably benign |
Het |
| Zfp963 |
T |
C |
8: 70,196,027 (GRCm39) |
D142G |
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 |
|
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 |
|
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'- GCAGGAACAGGTGTGGTATTCC -3'
(R):5'- AAGAGGAACTTGCCAGCAATC -3'
Sequencing Primer
(F):5'- CCTACCTATCTTCTTGTGCAGCAGG -3'
(R):5'- TTGCCAGCAATCAGTCCTATGAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation