Incidental Mutation 'IGL01340:Mtmr7'
| ID |
74826 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtmr7
|
| Ensembl Gene |
ENSMUSG00000039431 |
| Gene Name |
myotubularin related protein 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41050465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 110
(Y110C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048890]
[ENSMUST00000048898]
[ENSMUST00000173957]
[ENSMUST00000174205]
|
| AlphaFold |
Q9Z2C9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048890
AA Change: Y110C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431
AA Change: Y110C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
4.9e-145 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048898
AA Change: Y110C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: Y110C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
109 |
448 |
1.6e-143 |
PFAM |
|
coiled coil region
|
514 |
553 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173957
AA Change: Y69C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134020
Gene: ENSMUSG00000039431
AA Change: Y69C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
67 |
260 |
4e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174205
AA Change: Y110C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: Y110C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,021,453 (GRCm39) |
I1086L |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,380,058 (GRCm39) |
C630* |
probably null |
Het |
| Adgrg5 |
T |
C |
8: 95,664,257 (GRCm39) |
L289P |
probably damaging |
Het |
| Aplp1 |
G |
A |
7: 30,143,843 (GRCm39) |
T64I |
probably damaging |
Het |
| Bdh1 |
T |
A |
16: 31,275,661 (GRCm39) |
W261R |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,581,672 (GRCm39) |
I202N |
possibly damaging |
Het |
| Cd209c |
C |
T |
8: 3,995,892 (GRCm39) |
R6H |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,881,350 (GRCm39) |
I371F |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,224,493 (GRCm39) |
Y67C |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,183,256 (GRCm39) |
S387P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,487,165 (GRCm39) |
D598G |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,850,463 (GRCm39) |
L520P |
unknown |
Het |
| Cpvl |
A |
T |
6: 53,873,436 (GRCm39) |
Y433* |
probably null |
Het |
| Cxcl1 |
G |
T |
5: 91,039,434 (GRCm39) |
C59F |
probably damaging |
Het |
| Cyth3 |
T |
A |
5: 143,670,190 (GRCm39) |
L33* |
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,384,010 (GRCm39) |
K1069E |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,834,109 (GRCm39) |
|
probably benign |
Het |
| Fam83h |
T |
A |
15: 75,875,885 (GRCm39) |
D484V |
probably damaging |
Het |
| Igsf3 |
C |
A |
3: 101,346,995 (GRCm39) |
Y663* |
probably null |
Het |
| Kmt5c |
C |
T |
7: 4,745,140 (GRCm39) |
R44* |
probably null |
Het |
| Kxd1 |
T |
C |
8: 70,968,093 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
G |
18: 42,335,642 (GRCm39) |
V1158A |
probably benign |
Het |
| Lmf2 |
A |
G |
15: 89,237,075 (GRCm39) |
F413S |
probably damaging |
Het |
| Mc4r |
C |
T |
18: 66,992,229 (GRCm39) |
A295T |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,314,895 (GRCm39) |
|
probably null |
Het |
| Myd88 |
A |
C |
9: 119,166,418 (GRCm39) |
|
probably benign |
Het |
| Ndc1 |
T |
C |
4: 107,231,344 (GRCm39) |
V95A |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,696,021 (GRCm39) |
E163V |
possibly damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,321 (GRCm39) |
T207A |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,242,109 (GRCm39) |
D1491V |
possibly damaging |
Het |
| Phc3 |
T |
A |
3: 30,984,033 (GRCm39) |
I673F |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,593,201 (GRCm39) |
N1637K |
probably benign |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,067,078 (GRCm39) |
F111S |
probably damaging |
Het |
| Slco1a6 |
A |
T |
6: 142,055,109 (GRCm39) |
N278K |
possibly damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,577 (GRCm39) |
F720I |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,883,368 (GRCm39) |
V741E |
probably benign |
Het |
| Snx6 |
C |
T |
12: 54,801,094 (GRCm39) |
R185Q |
probably damaging |
Het |
| Spata31g1 |
A |
C |
4: 42,971,984 (GRCm39) |
E439A |
possibly damaging |
Het |
| Telo2 |
G |
A |
17: 25,319,103 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
A |
G |
6: 34,881,514 (GRCm39) |
S278P |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,664,381 (GRCm39) |
D277E |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 75,012,957 (GRCm39) |
E158G |
possibly damaging |
Het |
|
| Other mutations in Mtmr7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Mtmr7
|
APN |
8 |
41,050,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01773:Mtmr7
|
APN |
8 |
41,034,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Mtmr7
|
APN |
8 |
41,013,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02195:Mtmr7
|
APN |
8 |
41,013,946 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03394:Mtmr7
|
APN |
8 |
41,061,972 (GRCm39) |
missense |
probably damaging |
0.97 |
|
BB001:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
BB003:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
BB011:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
BB013:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0116:Mtmr7
|
UTSW |
8 |
41,034,447 (GRCm39) |
splice site |
probably benign |
|
|
R0379:Mtmr7
|
UTSW |
8 |
41,004,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Mtmr7
|
UTSW |
8 |
41,013,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Mtmr7
|
UTSW |
8 |
41,004,852 (GRCm39) |
missense |
probably benign |
|
|
R4372:Mtmr7
|
UTSW |
8 |
41,007,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4482:Mtmr7
|
UTSW |
8 |
41,007,425 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4502:Mtmr7
|
UTSW |
8 |
41,011,203 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4622:Mtmr7
|
UTSW |
8 |
41,034,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Mtmr7
|
UTSW |
8 |
41,043,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Mtmr7
|
UTSW |
8 |
41,062,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4991:Mtmr7
|
UTSW |
8 |
41,007,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5424:Mtmr7
|
UTSW |
8 |
41,059,873 (GRCm39) |
missense |
probably benign |
|
|
R5707:Mtmr7
|
UTSW |
8 |
41,011,203 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5929:Mtmr7
|
UTSW |
8 |
41,011,399 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5985:Mtmr7
|
UTSW |
8 |
41,004,873 (GRCm39) |
missense |
probably benign |
|
|
R6013:Mtmr7
|
UTSW |
8 |
41,034,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Mtmr7
|
UTSW |
8 |
41,034,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7052:Mtmr7
|
UTSW |
8 |
41,008,874 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7249:Mtmr7
|
UTSW |
8 |
41,043,520 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7538:Mtmr7
|
UTSW |
8 |
41,050,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7699:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7699:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7700:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7708:Mtmr7
|
UTSW |
8 |
41,043,554 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7890:Mtmr7
|
UTSW |
8 |
41,004,776 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7924:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7926:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8059:Mtmr7
|
UTSW |
8 |
41,034,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8446:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8493:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9009:Mtmr7
|
UTSW |
8 |
41,008,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9527:Mtmr7
|
UTSW |
8 |
41,011,345 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1177:Mtmr7
|
UTSW |
8 |
41,050,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-10-07 |
Incidental Mutation