Incidental Mutation 'IGL01665:Tmem167'
| ID |
103274 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem167
|
| Ensembl Gene |
ENSMUSG00000012422 |
| Gene Name |
transmembrane protein 167 |
| Synonyms |
5730424F14Rik, 0610041E09Rik, Gm10085 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.416)
|
| Stock # |
IGL01665
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
90237843-90263047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90246504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 9
(S9R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012566]
[ENSMUST00000161457]
[ENSMUST00000161568]
|
| AlphaFold |
Q9CR64 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012566
AA Change: S9R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000012566
Gene: ENSMUSG00000012422
AA Change: S9R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1242
|
10 |
44 |
2.1e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157683
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161457
AA Change: S9R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124571
Gene: ENSMUSG00000012422
AA Change: S9R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1242
|
10 |
44 |
4.6e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161568
AA Change: S9R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125314
Gene: ENSMUSG00000012422
AA Change: S9R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1242
|
10 |
44 |
3.5e-23 |
PFAM |
|
transmembrane domain
|
54 |
71 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(27) : Gene trapped(27) |
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
T |
A |
9: 54,530,004 (GRCm39) |
I231L |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,507,506 (GRCm39) |
V22D |
probably damaging |
Het |
| Adgra3 |
T |
C |
5: 50,164,272 (GRCm39) |
T236A |
possibly damaging |
Het |
| Adipor2 |
A |
T |
6: 119,338,887 (GRCm39) |
L122H |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,074,291 (GRCm39) |
I321V |
probably benign |
Het |
| Bhmt2 |
A |
T |
13: 93,799,661 (GRCm39) |
Y258* |
probably null |
Het |
| C230029F24Rik |
T |
A |
1: 49,377,253 (GRCm39) |
|
noncoding transcript |
Het |
| Ccpg1 |
T |
A |
9: 72,913,159 (GRCm39) |
F232I |
probably damaging |
Het |
| Cd83 |
A |
T |
13: 43,955,153 (GRCm39) |
T195S |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,848,386 (GRCm39) |
G847* |
probably null |
Het |
| Cfap70 |
G |
A |
14: 20,453,186 (GRCm39) |
T897M |
probably damaging |
Het |
| Cyp3a11 |
T |
A |
5: 145,805,475 (GRCm39) |
M181L |
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,457,083 (GRCm39) |
V2090I |
probably benign |
Het |
| Gm45234 |
A |
G |
6: 124,723,571 (GRCm39) |
|
probably benign |
Het |
| Gm7964 |
T |
A |
7: 83,406,341 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9 |
T |
A |
1: 172,319,738 (GRCm39) |
C39* |
probably null |
Het |
| Il1rap |
A |
T |
16: 26,541,463 (GRCm39) |
D568V |
probably damaging |
Het |
| Ints7 |
C |
T |
1: 191,345,331 (GRCm39) |
|
probably benign |
Het |
| Lsamp |
C |
T |
16: 41,964,375 (GRCm39) |
R250* |
probably null |
Het |
| Oit3 |
T |
A |
10: 59,274,731 (GRCm39) |
D23V |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,442 (GRCm39) |
L303Q |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,400,450 (GRCm39) |
N800K |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,513,331 (GRCm39) |
D210G |
probably benign |
Het |
| Plekhb2 |
T |
A |
1: 34,908,411 (GRCm39) |
Y152N |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,678,088 (GRCm39) |
S679P |
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,643,854 (GRCm39) |
T2A |
possibly damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,985,463 (GRCm39) |
S522T |
probably benign |
Het |
|
| Other mutations in Tmem167 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02602:Tmem167
|
APN |
13 |
90,252,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
3370:Tmem167
|
UTSW |
13 |
90,246,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
H8786:Tmem167
|
UTSW |
13 |
90,246,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3236:Tmem167
|
UTSW |
13 |
90,252,499 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4820:Tmem167
|
UTSW |
13 |
90,252,548 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7041:Tmem167
|
UTSW |
13 |
90,246,533 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8268:Tmem167
|
UTSW |
13 |
90,252,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Tmem167
|
UTSW |
13 |
90,246,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V3553:Tmem167
|
UTSW |
13 |
90,246,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Tmem167
|
UTSW |
13 |
90,251,406 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation