Incidental Mutation 'IGL01308:Mtmr7'
ID |
73538 |
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 # |
IGL01308
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41050388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 136
(Y136N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048890]
[ENSMUST00000048898]
[ENSMUST00000173957]
[ENSMUST00000174205]
|
AlphaFold |
Q9Z2C9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048890
AA Change: Y136N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043367 Gene: ENSMUSG00000039431 AA Change: Y136N
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
450 |
4.9e-145 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048898
AA Change: Y136N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043851 Gene: ENSMUSG00000039431 AA Change: Y136N
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: Y95N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134020 Gene: ENSMUSG00000039431 AA Change: Y95N
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
67 |
260 |
4e-64 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174205
AA Change: Y136N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000134731 Gene: ENSMUSG00000039431 AA Change: Y136N
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,748,997 (GRCm39) |
D1256G |
probably damaging |
Het |
Acot7 |
A |
T |
4: 152,345,353 (GRCm39) |
M308L |
probably benign |
Het |
Adarb2 |
A |
G |
13: 8,253,329 (GRCm39) |
R25G |
possibly damaging |
Het |
Ano1 |
C |
A |
7: 144,149,235 (GRCm39) |
Q875H |
probably damaging |
Het |
Ano6 |
G |
A |
15: 95,811,542 (GRCm39) |
|
probably null |
Het |
Defa40 |
C |
T |
8: 21,740,434 (GRCm39) |
T80I |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,611,523 (GRCm39) |
D455V |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,088,022 (GRCm39) |
P354L |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,768,572 (GRCm39) |
H1454R |
probably damaging |
Het |
Esyt1 |
T |
A |
10: 128,355,660 (GRCm39) |
N421Y |
possibly damaging |
Het |
Gen1 |
T |
C |
12: 11,306,871 (GRCm39) |
T100A |
probably damaging |
Het |
Jak3 |
A |
T |
8: 72,137,810 (GRCm39) |
D780V |
probably damaging |
Het |
Klrb1a |
A |
G |
6: 128,595,008 (GRCm39) |
|
probably benign |
Het |
Lrp8 |
A |
G |
4: 107,721,273 (GRCm39) |
I826M |
probably benign |
Het |
Mcmbp |
G |
A |
7: 128,316,209 (GRCm39) |
Q214* |
probably null |
Het |
Ndor1 |
A |
G |
2: 25,140,151 (GRCm39) |
Y88H |
probably benign |
Het |
Nkx2-4 |
A |
G |
2: 146,926,260 (GRCm39) |
Y201H |
possibly damaging |
Het |
Or3a1d |
A |
G |
11: 74,237,486 (GRCm39) |
L308P |
probably damaging |
Het |
Or52n4b |
T |
A |
7: 108,143,933 (GRCm39) |
L65* |
probably null |
Het |
Or6c5 |
A |
T |
10: 129,074,476 (GRCm39) |
T153S |
probably benign |
Het |
Pigg |
T |
C |
5: 108,484,343 (GRCm39) |
L663P |
probably damaging |
Het |
Pik3cd |
A |
G |
4: 149,741,917 (GRCm39) |
V343A |
probably damaging |
Het |
Plekha4 |
A |
G |
7: 45,187,659 (GRCm39) |
S244G |
probably damaging |
Het |
Prkce |
T |
A |
17: 86,932,890 (GRCm39) |
D623E |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,159,425 (GRCm39) |
|
probably benign |
Het |
Rexo5 |
T |
C |
7: 119,433,499 (GRCm39) |
W419R |
probably damaging |
Het |
Rnaseh2b |
A |
G |
14: 62,602,706 (GRCm39) |
|
probably null |
Het |
Rras |
A |
G |
7: 44,670,709 (GRCm39) |
Y193C |
possibly damaging |
Het |
Sall4 |
T |
C |
2: 168,592,164 (GRCm39) |
I997V |
probably damaging |
Het |
Sec31b |
A |
G |
19: 44,512,122 (GRCm39) |
F591L |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,059,610 (GRCm39) |
L232P |
probably benign |
Het |
Slc13a3 |
A |
T |
2: 165,248,700 (GRCm39) |
I526N |
probably damaging |
Het |
Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
Snrnp25 |
A |
G |
11: 32,158,745 (GRCm39) |
|
probably benign |
Het |
Tex264 |
T |
C |
9: 106,539,607 (GRCm39) |
K201E |
possibly damaging |
Het |
Tgfb1 |
G |
T |
7: 25,387,442 (GRCm39) |
R50L |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,445,625 (GRCm39) |
V207A |
probably benign |
Het |
Tmed1 |
A |
T |
9: 21,421,338 (GRCm39) |
C45* |
probably null |
Het |
Tmem260 |
A |
G |
14: 48,749,415 (GRCm39) |
N638S |
probably damaging |
Het |
Traf3ip3 |
T |
C |
1: 192,867,199 (GRCm39) |
E274G |
probably damaging |
Het |
Trak1 |
T |
C |
9: 121,272,802 (GRCm39) |
|
probably null |
Het |
Trim3 |
A |
T |
7: 105,266,676 (GRCm39) |
V502E |
probably damaging |
Het |
Trmo |
C |
T |
4: 46,377,053 (GRCm39) |
|
probably benign |
Het |
Xab2 |
C |
T |
8: 3,666,332 (GRCm39) |
R192Q |
probably benign |
Het |
|
Other mutations in Mtmr7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01340:Mtmr7
|
APN |
8 |
41,050,465 (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 |