Incidental Mutation 'IGL02433:Tmem68'
| ID |
293179 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem68
|
| Ensembl Gene |
ENSMUSG00000028232 |
| Gene Name |
transmembrane protein 68 |
| Synonyms |
Diesl, 2010300G19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.363)
|
| Stock # |
IGL02433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
3549041-3574853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3569624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 22
(I22N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029891]
[ENSMUST00000134451]
[ENSMUST00000154922]
|
| AlphaFold |
Q9D850 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029891
AA Change: I22N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029891
Gene: ENSMUSG00000028232
AA Change: I22N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
PlsC
|
123 |
238 |
3.98e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134451
AA Change: I22N
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150676
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154922
AA Change: I22N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123591
Gene: ENSMUSG00000028232
AA Change: I22N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
Blast:PlsC
|
75 |
112 |
4e-15 |
BLAST |
|
Blast:PlsC
|
123 |
163 |
1e-21 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bche |
T |
C |
3: 73,609,262 (GRCm39) |
T55A |
probably benign |
Het |
| Ccdc177 |
T |
C |
12: 80,804,372 (GRCm39) |
D634G |
unknown |
Het |
| Cnot2 |
T |
C |
10: 116,328,241 (GRCm39) |
T498A |
possibly damaging |
Het |
| Dock10 |
C |
T |
1: 80,507,905 (GRCm39) |
V1669M |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,124 (GRCm39) |
E534G |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
| Gm10073 |
T |
C |
8: 107,299,951 (GRCm39) |
Y11C |
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,514 (GRCm39) |
|
probably benign |
Het |
| Krt31 |
T |
C |
11: 99,939,221 (GRCm39) |
Y232C |
probably damaging |
Het |
| Muc19 |
G |
A |
15: 91,756,694 (GRCm39) |
|
noncoding transcript |
Het |
| Myof |
A |
G |
19: 37,960,641 (GRCm39) |
S467P |
probably benign |
Het |
| Nup88 |
C |
T |
11: 70,860,714 (GRCm39) |
V22I |
probably benign |
Het |
| Or4f14 |
G |
T |
2: 111,742,762 (GRCm39) |
P171Q |
probably damaging |
Het |
| Or6c6c |
A |
T |
10: 129,541,445 (GRCm39) |
T233S |
probably benign |
Het |
| Or8h9 |
A |
G |
2: 86,789,392 (GRCm39) |
S137P |
possibly damaging |
Het |
| Prag1 |
C |
T |
8: 36,606,722 (GRCm39) |
P821L |
probably damaging |
Het |
| Pramel22 |
C |
T |
4: 143,382,007 (GRCm39) |
G230S |
possibly damaging |
Het |
| Tap2 |
G |
A |
17: 34,424,393 (GRCm39) |
|
probably benign |
Het |
| Usp17le |
A |
G |
7: 104,418,408 (GRCm39) |
W245R |
probably benign |
Het |
| Xpo5 |
G |
T |
17: 46,550,446 (GRCm39) |
C976F |
probably damaging |
Het |
| Xrcc1 |
T |
C |
7: 24,264,979 (GRCm39) |
S94P |
possibly damaging |
Het |
| Zfp524 |
T |
A |
7: 5,021,091 (GRCm39) |
N206K |
possibly damaging |
Het |
|
| Other mutations in Tmem68 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02364:Tmem68
|
APN |
4 |
3,560,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02537:Tmem68
|
APN |
4 |
3,569,649 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02886:Tmem68
|
APN |
4 |
3,569,361 (GRCm39) |
splice site |
probably benign |
|
|
R0600:Tmem68
|
UTSW |
4 |
3,569,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1670:Tmem68
|
UTSW |
4 |
3,560,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3001:Tmem68
|
UTSW |
4 |
3,569,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Tmem68
|
UTSW |
4 |
3,569,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Tmem68
|
UTSW |
4 |
3,569,594 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4428:Tmem68
|
UTSW |
4 |
3,569,534 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5221:Tmem68
|
UTSW |
4 |
3,560,561 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5640:Tmem68
|
UTSW |
4 |
3,569,512 (GRCm39) |
missense |
probably benign |
|
|
R6919:Tmem68
|
UTSW |
4 |
3,569,669 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7122:Tmem68
|
UTSW |
4 |
3,564,107 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7857:Tmem68
|
UTSW |
4 |
3,551,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation