Incidental Mutation 'R6249:Mtmr7'
ID |
505852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr7
|
Ensembl Gene |
ENSMUSG00000039431 |
Gene Name |
myotubularin related protein 7 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6249 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41034524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 266
(I266N)
|
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: I266N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043367 Gene: ENSMUSG00000039431 AA Change: I266N
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
450 |
4.9e-145 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048898
AA Change: I266N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043851 Gene: ENSMUSG00000039431 AA Change: I266N
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: I102N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134281 Gene: ENSMUSG00000039431 AA Change: I102N
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: I225N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134020 Gene: ENSMUSG00000039431 AA Change: I225N
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
67 |
260 |
4e-64 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174205
AA Change: I266N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134731 Gene: ENSMUSG00000039431 AA Change: I266N
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110004F10Rik |
A |
T |
7: 115,702,505 (GRCm39) |
S90C |
probably damaging |
Het |
Abca9 |
T |
C |
11: 110,036,453 (GRCm39) |
D552G |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,471,639 (GRCm39) |
L502P |
probably damaging |
Het |
Agmo |
T |
C |
12: 37,293,837 (GRCm39) |
|
probably null |
Het |
Ank3 |
A |
G |
10: 69,658,906 (GRCm39) |
|
probably null |
Het |
Apol11b |
G |
T |
15: 77,519,537 (GRCm39) |
T181K |
probably benign |
Het |
Arap2 |
G |
T |
5: 62,803,536 (GRCm39) |
H1244N |
probably damaging |
Het |
Arid1b |
A |
T |
17: 5,329,636 (GRCm39) |
M838L |
possibly damaging |
Het |
Aste1 |
G |
A |
9: 105,273,816 (GRCm39) |
V19I |
probably benign |
Het |
B3gnt3 |
A |
T |
8: 72,145,306 (GRCm39) |
M354K |
probably damaging |
Het |
Calcr |
A |
T |
6: 3,692,711 (GRCm39) |
M381K |
possibly damaging |
Het |
Ccdc63 |
A |
C |
5: 122,263,062 (GRCm39) |
L160W |
probably benign |
Het |
Cerkl |
A |
G |
2: 79,199,122 (GRCm39) |
L156P |
probably damaging |
Het |
Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Ddb1 |
C |
A |
19: 10,583,084 (GRCm39) |
Y5* |
probably null |
Het |
Fignl2 |
T |
C |
15: 100,952,060 (GRCm39) |
E74G |
possibly damaging |
Het |
Glb1l2 |
C |
T |
9: 26,676,850 (GRCm39) |
|
probably benign |
Het |
Gm16503 |
A |
G |
4: 147,625,508 (GRCm39) |
M1V |
probably null |
Het |
Gm2696 |
A |
C |
10: 77,630,646 (GRCm39) |
|
probably benign |
Het |
Gm45844 |
A |
G |
7: 7,243,092 (GRCm39) |
S20P |
probably benign |
Het |
Gm7579 |
C |
T |
7: 141,765,743 (GRCm39) |
P50S |
unknown |
Het |
Idh1 |
A |
G |
1: 65,205,378 (GRCm39) |
S196P |
probably damaging |
Het |
Il1rap |
T |
C |
16: 26,511,598 (GRCm39) |
V214A |
possibly damaging |
Het |
Kctd17 |
C |
G |
15: 78,314,239 (GRCm39) |
|
probably null |
Het |
Lama1 |
G |
T |
17: 68,105,599 (GRCm39) |
V2036L |
probably benign |
Het |
Lars1 |
G |
T |
18: 42,390,271 (GRCm39) |
|
probably null |
Het |
Mdn1 |
T |
A |
4: 32,708,484 (GRCm39) |
V1670E |
possibly damaging |
Het |
Ncapd3 |
GGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTG |
9: 26,999,349 (GRCm39) |
|
probably benign |
Het |
Nckap5 |
T |
C |
1: 125,952,667 (GRCm39) |
E1295G |
probably benign |
Het |
Nrxn3 |
T |
A |
12: 89,221,448 (GRCm39) |
V409D |
probably damaging |
Het |
Or13p3 |
A |
G |
4: 118,566,910 (GRCm39) |
Y102C |
probably damaging |
Het |
Or2a5 |
G |
T |
6: 42,874,238 (GRCm39) |
L284F |
probably damaging |
Het |
Or2aj4 |
T |
A |
16: 19,384,725 (GRCm39) |
N303Y |
probably damaging |
Het |
Or51q1 |
A |
T |
7: 103,628,818 (GRCm39) |
S140C |
possibly damaging |
Het |
Or5h22 |
T |
C |
16: 58,894,795 (GRCm39) |
Y216C |
probably damaging |
Het |
Or8b44 |
T |
G |
9: 38,410,880 (GRCm39) |
I305R |
unknown |
Het |
Pcdha4 |
T |
A |
18: 37,086,729 (GRCm39) |
V304E |
probably damaging |
Het |
Pde6c |
T |
C |
19: 38,147,008 (GRCm39) |
|
probably null |
Het |
Pebp4 |
A |
T |
14: 70,297,099 (GRCm39) |
T213S |
possibly damaging |
Het |
Phf2 |
C |
A |
13: 48,959,348 (GRCm39) |
R886L |
unknown |
Het |
Pik3ca |
A |
T |
3: 32,515,712 (GRCm39) |
H795L |
probably damaging |
Het |
Pisd |
G |
T |
5: 32,896,188 (GRCm39) |
T379N |
probably damaging |
Het |
Pld2 |
T |
C |
11: 70,446,196 (GRCm39) |
L732P |
probably damaging |
Het |
Pskh1 |
A |
G |
8: 106,639,617 (GRCm39) |
D99G |
possibly damaging |
Het |
Rest |
A |
G |
5: 77,429,071 (GRCm39) |
T497A |
probably benign |
Het |
Rps24 |
C |
T |
14: 24,543,530 (GRCm39) |
T108M |
possibly damaging |
Het |
Rtel1 |
C |
T |
2: 180,993,475 (GRCm39) |
R566C |
probably damaging |
Het |
Scyl2 |
A |
G |
10: 89,493,719 (GRCm39) |
S350P |
possibly damaging |
Het |
Slc38a7 |
G |
T |
8: 96,564,302 (GRCm39) |
|
probably null |
Het |
Sox5 |
A |
G |
6: 143,779,009 (GRCm39) |
I674T |
probably benign |
Het |
Spata31f1a |
A |
T |
4: 42,850,528 (GRCm39) |
W543R |
probably benign |
Het |
Surf4 |
C |
A |
2: 26,816,899 (GRCm39) |
E39D |
probably damaging |
Het |
Tas2r144 |
T |
A |
6: 42,192,291 (GRCm39) |
Y10* |
probably null |
Het |
Thbs4 |
C |
T |
13: 92,911,215 (GRCm39) |
G323R |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,399,006 (GRCm38) |
Y542C |
probably damaging |
Het |
Trim61 |
A |
G |
8: 65,467,108 (GRCm39) |
V51A |
probably benign |
Het |
Tyrp1 |
T |
A |
4: 80,769,009 (GRCm39) |
I501N |
possibly damaging |
Het |
U2surp |
C |
T |
9: 95,382,869 (GRCm39) |
D32N |
probably benign |
Het |
Ush1c |
T |
C |
7: 45,864,383 (GRCm39) |
Y411C |
probably damaging |
Het |
Vwa7 |
G |
A |
17: 35,242,365 (GRCm39) |
V490I |
probably benign |
Het |
Xylt1 |
G |
T |
7: 117,266,528 (GRCm39) |
A849S |
probably benign |
Het |
Ythdc1 |
T |
A |
5: 86,979,815 (GRCm39) |
N599K |
possibly damaging |
Het |
Zbtb38 |
T |
A |
9: 96,568,045 (GRCm39) |
Y1013F |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
Zswim9 |
T |
C |
7: 12,994,903 (GRCm39) |
S418G |
probably 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 |
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 |
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'- CAACTGCAATGTATTTCCCAGTC -3'
(R):5'- CAGTGTTTCAGGGGCTCAAAC -3'
Sequencing Primer
(F):5'- GTCACCACACTTGTTTAACAGTATC -3'
(R):5'- TTCAGGGGCTCAAACTGTAG -3'
|
Posted On |
2018-02-28 |