Incidental Mutation 'IGL02034:Tmem175'
| ID |
184453 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem175
|
| Ensembl Gene |
ENSMUSG00000013495 |
| Gene Name |
transmembrane protein 175 |
| Synonyms |
3010001K23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02034
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
108777649-108795636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108790002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 118
(T118I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000063272]
[ENSMUST00000078323]
[ENSMUST00000120327]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000146207]
[ENSMUST00000153238]
|
| AlphaFold |
Q9CXY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053913
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
55 |
102 |
3.22e-14 |
SMART |
|
C1
|
114 |
162 |
1.73e-2 |
SMART |
|
C1
|
178 |
228 |
1.58e-13 |
SMART |
|
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
|
RA
|
387 |
486 |
2.08e-20 |
SMART |
|
DAGKc
|
580 |
707 |
4.79e-63 |
SMART |
|
DAGKa
|
733 |
885 |
7e-88 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063272
AA Change: T118I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068607
Gene: ENSMUSG00000013495
AA Change: T118I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1211
|
31 |
121 |
7.3e-28 |
PFAM |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
Pfam:DUF1211
|
256 |
353 |
4.4e-36 |
PFAM |
|
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078323
AA Change: T118I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077437
Gene: ENSMUSG00000013495
AA Change: T118I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1211
|
31 |
121 |
7.3e-28 |
PFAM |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
Pfam:DUF1211
|
256 |
353 |
4.4e-36 |
PFAM |
|
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120327
AA Change: T118I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112780
Gene: ENSMUSG00000013495
AA Change: T118I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1211
|
32 |
121 |
1.5e-22 |
PFAM |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
Pfam:DUF1211
|
257 |
353 |
9.5e-27 |
PFAM |
|
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123669
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132179
|
| SMART Domains |
Protein: ENSMUSP00000118466
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
55 |
102 |
3.22e-14 |
SMART |
|
Blast:C1
|
114 |
144 |
1e-12 |
BLAST |
|
low complexity region
|
156 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132708
|
| SMART Domains |
Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C1
|
26 |
56 |
2e-13 |
BLAST |
|
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146207
AA Change: T118I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143596
Gene: ENSMUSG00000013495
AA Change: T118I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1211
|
32 |
121 |
5.4e-23 |
PFAM |
|
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
|
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153238
|
| SMART Domains |
Protein: ENSMUSP00000118065
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
55 |
102 |
3.22e-14 |
SMART |
|
Blast:C1
|
114 |
144 |
1e-12 |
BLAST |
|
low complexity region
|
156 |
169 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcor |
A |
G |
X: 11,905,498 (GRCm39) |
S1556P |
possibly damaging |
Het |
| Brd10 |
A |
G |
19: 29,694,259 (GRCm39) |
S1745P |
possibly damaging |
Het |
| Ccdc6 |
T |
A |
10: 70,004,978 (GRCm39) |
I241N |
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,619,986 (GRCm39) |
I48T |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,837,118 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,897,347 (GRCm39) |
M264V |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,221,043 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
A |
G |
5: 87,843,941 (GRCm39) |
|
probably benign |
Het |
| Cyfip1 |
G |
A |
7: 55,548,101 (GRCm39) |
R567Q |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,235,486 (GRCm39) |
|
probably null |
Het |
| Ermp1 |
G |
A |
19: 29,623,359 (GRCm39) |
|
probably benign |
Het |
| Erv3 |
C |
T |
2: 131,697,934 (GRCm39) |
V142I |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,495,730 (GRCm39) |
N58S |
probably damaging |
Het |
| Gcm2 |
G |
A |
13: 41,259,269 (GRCm39) |
R67C |
probably damaging |
Het |
| Gm17019 |
A |
G |
5: 15,080,266 (GRCm39) |
I182T |
possibly damaging |
Het |
| Gpr45 |
T |
C |
1: 43,072,478 (GRCm39) |
*374Q |
probably null |
Het |
| Haus8 |
T |
C |
8: 71,708,202 (GRCm39) |
N165S |
probably damaging |
Het |
| Hoxd4 |
T |
A |
2: 74,558,750 (GRCm39) |
L191Q |
probably damaging |
Het |
| I830077J02Rik |
A |
G |
3: 105,834,565 (GRCm39) |
|
probably benign |
Het |
| Lpl |
T |
C |
8: 69,333,424 (GRCm39) |
L7P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,158,382 (GRCm39) |
K1612* |
probably null |
Het |
| Myh14 |
G |
T |
7: 44,265,717 (GRCm39) |
A1546D |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,875,577 (GRCm39) |
S1698P |
probably damaging |
Het |
| Or10p22 |
A |
T |
10: 128,826,570 (GRCm39) |
Q263L |
probably benign |
Het |
| Or4c112 |
C |
T |
2: 88,854,015 (GRCm39) |
V111M |
probably benign |
Het |
| Or52e7 |
C |
A |
7: 104,684,597 (GRCm39) |
T64N |
probably benign |
Het |
| Or5p51 |
G |
A |
7: 107,444,385 (GRCm39) |
T185I |
probably benign |
Het |
| Otog |
A |
T |
7: 45,945,417 (GRCm39) |
K40* |
probably null |
Het |
| Rgma |
C |
A |
7: 73,067,181 (GRCm39) |
H145Q |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,977,776 (GRCm39) |
|
probably null |
Het |
| Ssxb2 |
T |
A |
X: 8,324,743 (GRCm39) |
|
probably benign |
Het |
| Wdhd1 |
A |
G |
14: 47,498,808 (GRCm39) |
V542A |
probably benign |
Het |
| Zfp977 |
G |
A |
7: 42,230,136 (GRCm39) |
P130S |
probably damaging |
Het |
|
| Other mutations in Tmem175 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Tmem175
|
APN |
5 |
108,793,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0057:Tmem175
|
UTSW |
5 |
108,787,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Tmem175
|
UTSW |
5 |
108,787,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2294:Tmem175
|
UTSW |
5 |
108,786,525 (GRCm39) |
splice site |
probably benign |
|
|
R4576:Tmem175
|
UTSW |
5 |
108,792,468 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4707:Tmem175
|
UTSW |
5 |
108,790,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5063:Tmem175
|
UTSW |
5 |
108,794,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6248:Tmem175
|
UTSW |
5 |
108,793,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6864:Tmem175
|
UTSW |
5 |
108,793,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Tmem175
|
UTSW |
5 |
108,790,948 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7562:Tmem175
|
UTSW |
5 |
108,789,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7648:Tmem175
|
UTSW |
5 |
108,792,432 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8313:Tmem175
|
UTSW |
5 |
108,791,075 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8884:Tmem175
|
UTSW |
5 |
108,794,327 (GRCm39) |
missense |
probably benign |
|
|
R9386:Tmem175
|
UTSW |
5 |
108,787,339 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9560:Tmem175
|
UTSW |
5 |
108,789,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation