Incidental Mutation 'IGL01773:Mtmr7'
| ID |
153729 |
| 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 # |
IGL01773
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41034461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 287
(L287Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048890]
[ENSMUST00000048898]
[ENSMUST00000173487]
[ENSMUST00000173957]
[ENSMUST00000174205]
|
| AlphaFold |
Q9Z2C9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048890
AA Change: L287Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431
AA Change: L287Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
4.9e-145 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048898
AA Change: L287Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: L287Q
| 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: ENSMUST00000173487
AA Change: L123Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
AA Change: L123Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
1 |
286 |
8.1e-125 |
PFAM |
|
coiled coil region
|
350 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173957
AA Change: L246Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134020
Gene: ENSMUSG00000039431
AA Change: L246Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
67 |
260 |
4e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174205
AA Change: L287Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: L287Q
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1s |
C |
A |
1: 136,046,491 (GRCm39) |
H1775Q |
probably benign |
Het |
| Calcrl |
A |
G |
2: 84,200,787 (GRCm39) |
Y86H |
probably benign |
Het |
| Ccdc63 |
T |
C |
5: 122,251,208 (GRCm39) |
K401E |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,244,147 (GRCm39) |
T127A |
probably benign |
Het |
| Cpq |
T |
A |
15: 33,212,996 (GRCm39) |
F5Y |
probably benign |
Het |
| Cuzd1 |
T |
A |
7: 130,916,614 (GRCm39) |
M282L |
probably damaging |
Het |
| Ddx10 |
C |
A |
9: 53,115,430 (GRCm39) |
D635Y |
possibly damaging |
Het |
| Ect2l |
T |
C |
10: 18,037,252 (GRCm39) |
D382G |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,290,365 (GRCm39) |
S901P |
possibly damaging |
Het |
| Gpr179 |
G |
A |
11: 97,232,192 (GRCm39) |
R671C |
probably benign |
Het |
| Isl2 |
T |
C |
9: 55,451,504 (GRCm39) |
L219P |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,357,733 (GRCm39) |
S296P |
possibly damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,230 (GRCm39) |
F105S |
probably damaging |
Het |
| Or52d13 |
T |
G |
7: 103,110,221 (GRCm39) |
M60L |
possibly damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,770 (GRCm39) |
T255A |
possibly damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,830 (GRCm39) |
I46T |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,410,155 (GRCm39) |
F130I |
probably damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,845,958 (GRCm39) |
S277R |
possibly damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,494 (GRCm39) |
K290R |
probably benign |
Het |
| Rnaseh2a |
A |
T |
8: 85,691,767 (GRCm39) |
V136D |
probably damaging |
Het |
| Rnf39 |
C |
T |
17: 37,256,328 (GRCm39) |
S140L |
possibly damaging |
Het |
| Sbno2 |
A |
G |
10: 79,893,665 (GRCm39) |
V1212A |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,021,101 (GRCm39) |
I50F |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,852,157 (GRCm39) |
E761V |
probably damaging |
Het |
| Sptlc1 |
A |
G |
13: 53,531,334 (GRCm39) |
Y18H |
probably damaging |
Het |
| Tfam |
A |
G |
10: 71,072,805 (GRCm39) |
M9T |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,841 (GRCm39) |
L140P |
probably damaging |
Het |
| Try4 |
A |
T |
6: 41,281,960 (GRCm39) |
N182I |
probably damaging |
Het |
| Vmn1r209 |
C |
T |
13: 22,990,450 (GRCm39) |
C80Y |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,260,930 (GRCm39) |
S498T |
probably benign |
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 |
|
IGL01340:Mtmr7
|
APN |
8 |
41,050,465 (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 |
2014-02-04 |
Incidental Mutation