Incidental Mutation 'IGL00574:Tmem150c'
| ID |
6406 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem150c
|
| Ensembl Gene |
ENSMUSG00000050640 |
| Gene Name |
transmembrane protein 150C |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
IGL00574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
100225731-100307667 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100240810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 51
(H51N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063192]
[ENSMUST00000139520]
|
| AlphaFold |
Q8C8S3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063192
AA Change: H51N
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000057116
Gene: ENSMUSG00000050640
AA Change: H51N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
8 |
218 |
2.1e-45 |
PFAM |
|
low complexity region
|
229 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124145
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139520
AA Change: H51N
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000114464
Gene: ENSMUSG00000050640
AA Change: H51N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
8 |
121 |
1.5e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165548
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
C |
1: 125,339,011 (GRCm39) |
Y109C |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,703,107 (GRCm39) |
L568Q |
probably damaging |
Het |
| Baiap2 |
T |
C |
11: 119,897,234 (GRCm39) |
S530P |
probably damaging |
Het |
| Bmpr1a |
T |
C |
14: 34,156,376 (GRCm39) |
I164V |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,947,330 (GRCm39) |
N473S |
probably benign |
Het |
| Egr4 |
T |
C |
6: 85,489,487 (GRCm39) |
D191G |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Grk4 |
T |
A |
5: 34,852,162 (GRCm39) |
N135K |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,820,787 (GRCm39) |
N1134S |
probably benign |
Het |
| Macrod2 |
T |
G |
2: 140,242,797 (GRCm39) |
M21R |
probably damaging |
Het |
| Mtx3 |
G |
T |
13: 92,984,384 (GRCm39) |
Q188H |
possibly damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,794 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,489,423 (GRCm39) |
F26C |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,341,708 (GRCm39) |
I647K |
probably damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,975 (GRCm39) |
N522K |
probably benign |
Het |
| Rbm10 |
T |
A |
X: 20,516,931 (GRCm39) |
|
probably benign |
Het |
| Rbm10 |
G |
A |
X: 20,516,932 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,572,762 (GRCm39) |
E734G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,463 (GRCm39) |
V837A |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sohlh2 |
C |
T |
3: 55,111,747 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
G |
A |
4: 48,469,937 (GRCm39) |
Q43* |
probably null |
Het |
| Tmem147 |
G |
A |
7: 30,427,858 (GRCm39) |
R66* |
probably null |
Het |
| Usp47 |
A |
T |
7: 111,662,542 (GRCm39) |
K228M |
probably damaging |
Het |
|
| Other mutations in Tmem150c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03088:Tmem150c
|
APN |
5 |
100,234,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0331:Tmem150c
|
UTSW |
5 |
100,234,132 (GRCm39) |
splice site |
probably null |
|
|
R1193:Tmem150c
|
UTSW |
5 |
100,231,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Tmem150c
|
UTSW |
5 |
100,227,887 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5053:Tmem150c
|
UTSW |
5 |
100,231,599 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5202:Tmem150c
|
UTSW |
5 |
100,227,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Tmem150c
|
UTSW |
5 |
100,231,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5887:Tmem150c
|
UTSW |
5 |
100,243,524 (GRCm39) |
missense |
probably benign |
|
|
R6934:Tmem150c
|
UTSW |
5 |
100,243,465 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6936:Tmem150c
|
UTSW |
5 |
100,231,577 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6982:Tmem150c
|
UTSW |
5 |
100,240,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7889:Tmem150c
|
UTSW |
5 |
100,240,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Tmem150c
|
UTSW |
5 |
100,240,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9019:Tmem150c
|
UTSW |
5 |
100,240,958 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9434:Tmem150c
|
UTSW |
5 |
100,240,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation