Incidental Mutation 'R1193:Tmem150c'
| ID |
100935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem150c
|
| Ensembl Gene |
ENSMUSG00000050640 |
| Gene Name |
transmembrane protein 150C |
| Synonyms |
|
| MMRRC Submission |
039265-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R1193 (G1)
|
| Quality Score |
168 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
100225731-100307667 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100231451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 175
(T175A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063192]
[ENSMUST00000139520]
|
| AlphaFold |
Q8C8S3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063192
AA Change: T175A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057116
Gene: ENSMUSG00000050640
AA Change: T175A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114464
Gene: ENSMUSG00000050640
| 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: ENSMUST00000165548
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
G |
3: 32,766,293 (GRCm39) |
D49G |
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Gpm6a |
A |
T |
8: 55,500,268 (GRCm39) |
|
probably null |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nudt5 |
G |
A |
2: 5,868,411 (GRCm39) |
S103N |
probably benign |
Het |
| Or5an9 |
A |
T |
19: 12,187,803 (GRCm39) |
Y291F |
probably damaging |
Het |
| Or6z3 |
A |
G |
7: 6,463,715 (GRCm39) |
N69S |
probably benign |
Het |
| Pds5a |
G |
T |
5: 65,795,145 (GRCm39) |
A697E |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,510,242 (GRCm39) |
D806G |
probably damaging |
Het |
| Rars1 |
C |
T |
11: 35,700,153 (GRCm39) |
A548T |
possibly damaging |
Het |
| Rfk |
C |
T |
19: 17,372,685 (GRCm39) |
P69L |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sp4 |
C |
T |
12: 118,262,981 (GRCm39) |
R355H |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,647,895 (GRCm39) |
Y137H |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Twnk |
A |
G |
19: 44,996,229 (GRCm39) |
K221E |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,800,653 (GRCm39) |
K428E |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,739 (GRCm39) |
Y108* |
probably null |
Het |
| Wwox |
G |
A |
8: 115,406,614 (GRCm39) |
V202M |
probably benign |
Het |
|
| Other mutations in Tmem150c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00574:Tmem150c
|
APN |
5 |
100,240,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCGTCTCTCTTTGGCTTGGTATAAA -3'
(R):5'- TGAAGAAATCCACAACGTGGGGACATC -3'
Sequencing Primer
(F):5'- ttcatctatgctccaccagac -3'
(R):5'- TGGGGACATCCCTGACCTTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation