Incidental Mutation 'R5424:Mtmr7'
ID |
426762 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr7
|
Ensembl Gene |
ENSMUSG00000039431 |
Gene Name |
myotubularin related protein 7 |
Synonyms |
|
MMRRC Submission |
042990-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5424 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41059873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 80
(V80A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048890]
[ENSMUST00000048898]
[ENSMUST00000173957]
[ENSMUST00000174205]
|
AlphaFold |
Q9Z2C9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048890
AA Change: V80A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043367 Gene: ENSMUSG00000039431 AA Change: V80A
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
450 |
4.9e-145 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000048898
AA Change: V80A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043851 Gene: ENSMUSG00000039431 AA Change: V80A
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 benign
Transcript: ENSMUST00000173957
AA Change: V39A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134020 Gene: ENSMUSG00000039431 AA Change: V39A
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
67 |
260 |
4e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174205
AA Change: V80A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134731 Gene: ENSMUSG00000039431 AA Change: V80A
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174537
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (59/59) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
C |
A |
1: 130,670,678 (GRCm39) |
A300D |
probably damaging |
Het |
Abca14 |
T |
C |
7: 119,810,777 (GRCm39) |
Y119H |
probably benign |
Het |
Actb |
A |
G |
5: 142,891,306 (GRCm39) |
|
probably benign |
Het |
Ada |
T |
A |
2: 163,570,045 (GRCm39) |
K323* |
probably null |
Het |
Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
Aire |
A |
T |
10: 77,872,553 (GRCm39) |
V355E |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,969,443 (GRCm39) |
I117M |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Clca3a2 |
A |
G |
3: 144,789,942 (GRCm39) |
F465L |
probably damaging |
Het |
Cpne8 |
T |
A |
15: 90,400,260 (GRCm39) |
M345L |
probably benign |
Het |
Ddx54 |
T |
C |
5: 120,757,926 (GRCm39) |
|
probably null |
Het |
Dnah14 |
T |
G |
1: 181,590,875 (GRCm39) |
M3256R |
possibly damaging |
Het |
Epha2 |
T |
A |
4: 141,046,251 (GRCm39) |
Y483* |
probably null |
Het |
Ermard |
T |
A |
17: 15,280,032 (GRCm39) |
S509T |
possibly damaging |
Het |
Fam186a |
G |
T |
15: 99,843,644 (GRCm39) |
H867N |
unknown |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Gas8 |
C |
A |
8: 124,253,251 (GRCm39) |
L200I |
possibly damaging |
Het |
Gfra2 |
A |
T |
14: 71,133,287 (GRCm39) |
D39V |
probably damaging |
Het |
Gm10770 |
T |
C |
2: 150,020,948 (GRCm39) |
T190A |
probably benign |
Het |
Gm2617 |
T |
C |
19: 9,301,320 (GRCm39) |
|
noncoding transcript |
Het |
Gm5592 |
C |
T |
7: 40,805,017 (GRCm39) |
|
probably benign |
Het |
Gmppb |
T |
A |
9: 107,929,204 (GRCm39) |
|
probably null |
Het |
Ifit2 |
T |
A |
19: 34,551,458 (GRCm39) |
C333S |
probably benign |
Het |
Ighg2b |
T |
C |
12: 113,271,550 (GRCm39) |
K1R |
unknown |
Het |
Impdh2-ps |
G |
T |
8: 100,758,141 (GRCm39) |
|
noncoding transcript |
Het |
Kdelr2 |
A |
C |
5: 143,403,899 (GRCm39) |
E96A |
probably benign |
Het |
Lama2 |
G |
A |
10: 26,860,392 (GRCm39) |
R3032C |
probably damaging |
Het |
Lipg |
T |
A |
18: 75,087,324 (GRCm39) |
I166F |
probably damaging |
Het |
Lrrc8b |
T |
C |
5: 105,628,569 (GRCm39) |
V305A |
probably damaging |
Het |
Marveld2 |
T |
C |
13: 100,748,695 (GRCm39) |
H128R |
probably benign |
Het |
Mgat4a |
A |
G |
1: 37,505,636 (GRCm39) |
V189A |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,971,094 (GRCm39) |
E1033V |
probably damaging |
Het |
Ndrg2 |
A |
G |
14: 52,146,342 (GRCm39) |
S153P |
probably damaging |
Het |
Nelfa |
C |
T |
5: 34,079,189 (GRCm39) |
|
probably null |
Het |
Nes |
G |
T |
3: 87,886,131 (GRCm39) |
E1419D |
possibly damaging |
Het |
Nipa1 |
C |
A |
7: 55,629,223 (GRCm39) |
V297L |
possibly damaging |
Het |
Obox5 |
T |
A |
7: 15,492,807 (GRCm39) |
I254K |
probably benign |
Het |
Or56b35 |
T |
C |
7: 104,963,778 (GRCm39) |
V189A |
possibly damaging |
Het |
Or8k24 |
G |
A |
2: 86,216,184 (GRCm39) |
Q193* |
probably null |
Het |
Pcdhga7 |
G |
A |
18: 37,848,388 (GRCm39) |
A132T |
probably benign |
Het |
Pla1a |
T |
A |
16: 38,235,137 (GRCm39) |
I186F |
probably damaging |
Het |
Plscr4 |
T |
A |
9: 92,372,075 (GRCm39) |
M282K |
possibly damaging |
Het |
Rpl22l1 |
T |
C |
3: 28,861,047 (GRCm39) |
|
probably benign |
Het |
Scn5a |
T |
C |
9: 119,330,800 (GRCm39) |
D1246G |
probably damaging |
Het |
Senp7 |
A |
G |
16: 56,006,471 (GRCm39) |
S932G |
possibly damaging |
Het |
Slc51a |
C |
A |
16: 32,297,565 (GRCm39) |
A111S |
probably benign |
Het |
Srcin1 |
T |
A |
11: 97,427,885 (GRCm39) |
K236* |
probably null |
Het |
Tbxas1 |
A |
G |
6: 39,004,839 (GRCm39) |
D362G |
possibly damaging |
Het |
Tcl1b5 |
T |
C |
12: 105,146,275 (GRCm39) |
I116T |
possibly damaging |
Het |
Tgm7 |
T |
A |
2: 120,929,522 (GRCm39) |
M251L |
probably damaging |
Het |
Tnn |
T |
A |
1: 159,950,272 (GRCm39) |
Q778L |
possibly damaging |
Het |
Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
Zfp622 |
T |
C |
15: 25,984,855 (GRCm39) |
C74R |
probably damaging |
Het |
Zfp646 |
C |
A |
7: 127,481,875 (GRCm39) |
H1351N |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGGGCAAGAATGACAACC -3'
(R):5'- CGAGGCCTACTTTTGAGGACTG -3'
Sequencing Primer
(F):5'- TTGGGCAAGAATGACAACCAAGTC -3'
(R):5'- CCTACTTTTGAGGACTGTTTCTTG -3'
|
Posted On |
2016-09-01 |