Incidental Mutation 'IGL00418:Tmem175'
ID |
6400 |
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 # |
IGL00418
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
108777649-108795636 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 108793732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 287
(D287E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000063272]
[ENSMUST00000078323]
[ENSMUST00000120327]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
[ENSMUST00000146207]
|
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 benign
Transcript: ENSMUST00000063272
AA Change: D287E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000068607 Gene: ENSMUSG00000013495 AA Change: D287E
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 benign
Transcript: ENSMUST00000078323
AA Change: D287E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000077437 Gene: ENSMUSG00000013495 AA Change: D287E
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 benign
Transcript: ENSMUST00000120327
AA Change: D287E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112780 Gene: ENSMUSG00000013495 AA Change: D287E
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 |
noncoding transcript
Transcript: ENSMUST00000198346
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139169
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200485
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145917
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146207
|
SMART Domains |
Protein: ENSMUSP00000143596 Gene: ENSMUSG00000013495
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
A |
G |
12: 55,095,748 (GRCm39) |
I238T |
probably damaging |
Het |
Akap4 |
T |
C |
X: 6,942,729 (GRCm39) |
V344A |
possibly damaging |
Het |
Apex2 |
T |
C |
X: 149,355,048 (GRCm39) |
K430E |
probably benign |
Het |
Aqp9 |
C |
T |
9: 71,040,013 (GRCm39) |
A90T |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,558,642 (GRCm39) |
|
probably benign |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Bspry |
G |
T |
4: 62,414,342 (GRCm39) |
D312Y |
probably benign |
Het |
Cdh16 |
G |
A |
8: 105,350,045 (GRCm39) |
R5W |
probably benign |
Het |
Ciz1 |
C |
T |
2: 32,262,400 (GRCm39) |
R461C |
probably damaging |
Het |
Cldn14 |
T |
A |
16: 93,716,189 (GRCm39) |
D219V |
probably benign |
Het |
Clpb |
A |
T |
7: 101,436,952 (GRCm39) |
T706S |
probably benign |
Het |
Cyp2d11 |
A |
T |
15: 82,276,669 (GRCm39) |
M90K |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,332,853 (GRCm39) |
I498F |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,385,892 (GRCm39) |
|
probably benign |
Het |
Dpyd |
T |
A |
3: 118,737,891 (GRCm39) |
F477L |
probably damaging |
Het |
Dscaml1 |
C |
A |
9: 45,581,498 (GRCm39) |
S439* |
probably null |
Het |
Faxc |
A |
G |
4: 21,958,490 (GRCm39) |
K216E |
possibly damaging |
Het |
Fmo1 |
C |
T |
1: 162,663,815 (GRCm39) |
R238Q |
probably damaging |
Het |
Gm14399 |
G |
A |
2: 174,973,315 (GRCm39) |
R147* |
probably null |
Het |
H2-Ab1 |
G |
A |
17: 34,486,549 (GRCm39) |
V203M |
probably damaging |
Het |
Heatr5b |
T |
C |
17: 79,060,570 (GRCm39) |
E2035G |
probably damaging |
Het |
Hip1 |
A |
G |
5: 135,455,200 (GRCm39) |
I786T |
probably damaging |
Het |
Homer1 |
T |
C |
13: 93,524,196 (GRCm39) |
|
probably benign |
Het |
Igkv9-120 |
A |
G |
6: 68,026,971 (GRCm39) |
D2G |
possibly damaging |
Het |
Irgm1 |
A |
T |
11: 48,756,832 (GRCm39) |
Y326* |
probably null |
Het |
Kctd19 |
A |
T |
8: 106,115,095 (GRCm39) |
|
probably null |
Het |
Large1 |
T |
C |
8: 73,550,469 (GRCm39) |
|
probably null |
Het |
Mzf1 |
G |
A |
7: 12,778,543 (GRCm39) |
A287V |
possibly damaging |
Het |
Nes |
A |
T |
3: 87,883,561 (GRCm39) |
K607* |
probably null |
Het |
Pars2 |
T |
A |
4: 106,511,247 (GRCm39) |
V307E |
probably damaging |
Het |
Pcsk5 |
T |
A |
19: 17,488,785 (GRCm39) |
I1012F |
possibly damaging |
Het |
Pole |
T |
C |
5: 110,451,431 (GRCm39) |
|
probably benign |
Het |
Rbm14 |
T |
C |
19: 4,852,576 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
T |
2: 65,594,866 (GRCm39) |
Q1905L |
probably benign |
Het |
Slc26a2 |
A |
G |
18: 61,331,812 (GRCm39) |
F540L |
probably benign |
Het |
Slco2a1 |
T |
C |
9: 102,956,640 (GRCm39) |
|
probably benign |
Het |
Tas2r106 |
T |
C |
6: 131,654,922 (GRCm39) |
|
probably null |
Het |
Trappc12 |
T |
C |
12: 28,787,835 (GRCm39) |
K416R |
probably damaging |
Het |
Trim2 |
A |
G |
3: 84,115,596 (GRCm39) |
L86P |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,783,544 (GRCm39) |
N240K |
probably damaging |
Het |
Wdr90 |
A |
C |
17: 26,068,338 (GRCm39) |
I1330S |
probably damaging |
Het |
Wfdc6a |
A |
G |
2: 164,426,914 (GRCm39) |
|
probably null |
Het |
Zc3h12c |
C |
T |
9: 52,027,965 (GRCm39) |
V466M |
probably damaging |
Het |
Zswim8 |
A |
G |
14: 20,768,543 (GRCm39) |
T1025A |
probably damaging |
Het |
|
Other mutations in Tmem175 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02034:Tmem175
|
APN |
5 |
108,790,002 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-04-20 |