Incidental Mutation 'R6013:Mtmr7'
ID |
479854 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr7
|
Ensembl Gene |
ENSMUSG00000039431 |
Gene Name |
myotubularin related protein 7 |
Synonyms |
|
MMRRC Submission |
044189-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6013 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 41034570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 251
(R251C)
|
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: R251C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043367 Gene: ENSMUSG00000039431 AA Change: R251C
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
450 |
4.9e-145 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048898
AA Change: R251C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043851 Gene: ENSMUSG00000039431 AA Change: R251C
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: R87C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134281 Gene: ENSMUSG00000039431 AA Change: R87C
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: R210C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134020 Gene: ENSMUSG00000039431 AA Change: R210C
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
67 |
260 |
4e-64 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174205
AA Change: R251C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134731 Gene: ENSMUSG00000039431 AA Change: R251C
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
Meta Mutation Damage Score |
0.9572 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
98% (54/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700008P02Rik |
C |
T |
3: 6,682,310 (GRCm39) |
|
probably null |
Het |
Aanat |
A |
T |
11: 116,486,950 (GRCm39) |
|
probably null |
Het |
Abca17 |
A |
T |
17: 24,506,820 (GRCm39) |
V1178E |
possibly damaging |
Het |
Abcf3 |
T |
A |
16: 20,369,311 (GRCm39) |
|
probably null |
Het |
Alk |
A |
G |
17: 72,207,732 (GRCm39) |
M1001T |
probably benign |
Het |
Arhgap23 |
C |
A |
11: 97,391,818 (GRCm39) |
S1445Y |
probably damaging |
Het |
Atp10a |
T |
C |
7: 58,447,538 (GRCm39) |
I760T |
probably benign |
Het |
Cadm1 |
C |
T |
9: 47,768,572 (GRCm39) |
|
probably benign |
Het |
Car10 |
A |
T |
11: 93,076,105 (GRCm39) |
|
probably benign |
Het |
Casq2 |
G |
T |
3: 102,052,945 (GRCm39) |
|
probably null |
Het |
Cemip2 |
G |
A |
19: 21,809,403 (GRCm39) |
V928I |
possibly damaging |
Het |
Clec4f |
T |
C |
6: 83,632,070 (GRCm39) |
I55V |
probably benign |
Het |
Cngb1 |
T |
C |
8: 96,010,949 (GRCm39) |
|
probably benign |
Het |
Csn1s2b |
A |
G |
5: 87,972,098 (GRCm39) |
|
probably null |
Het |
Cyp2c39 |
A |
C |
19: 39,501,969 (GRCm39) |
R119S |
probably benign |
Het |
Cyp4f16 |
C |
T |
17: 32,765,652 (GRCm39) |
A345V |
probably null |
Het |
Ddx43 |
T |
C |
9: 78,321,567 (GRCm39) |
L412S |
probably damaging |
Het |
Dnajb12 |
G |
A |
10: 59,730,163 (GRCm39) |
|
probably null |
Het |
Ephx2 |
A |
G |
14: 66,347,691 (GRCm39) |
S56P |
probably benign |
Het |
Fam83h |
A |
G |
15: 75,875,849 (GRCm39) |
F496S |
probably damaging |
Het |
Gcnt4 |
T |
C |
13: 97,083,786 (GRCm39) |
S361P |
possibly damaging |
Het |
H2-T23 |
G |
T |
17: 36,341,474 (GRCm39) |
H332Q |
probably benign |
Het |
Hrob |
T |
C |
11: 102,145,859 (GRCm39) |
V45A |
probably benign |
Het |
Ift57 |
G |
T |
16: 49,519,667 (GRCm39) |
|
probably null |
Het |
Il1rl2 |
A |
G |
1: 40,391,017 (GRCm39) |
H320R |
possibly damaging |
Het |
Kansl1 |
A |
G |
11: 104,241,465 (GRCm39) |
V618A |
probably benign |
Het |
Kctd3 |
T |
C |
1: 188,728,665 (GRCm39) |
E157G |
probably benign |
Het |
Magohb |
T |
A |
6: 131,270,037 (GRCm39) |
D31V |
possibly damaging |
Het |
Mdn1 |
C |
A |
4: 32,715,713 (GRCm39) |
F1993L |
probably damaging |
Het |
Med29 |
C |
A |
7: 28,086,418 (GRCm39) |
C130F |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,211,903 (GRCm39) |
I49V |
probably benign |
Het |
Nfkb1 |
G |
T |
3: 135,332,445 (GRCm39) |
T109K |
possibly damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,819,452 (GRCm39) |
|
probably null |
Het |
Pkp1 |
T |
A |
1: 135,811,648 (GRCm39) |
T408S |
probably damaging |
Het |
Plec |
A |
T |
15: 76,073,510 (GRCm39) |
D501E |
possibly damaging |
Het |
Prcp |
A |
C |
7: 92,576,976 (GRCm39) |
Y335S |
possibly damaging |
Het |
Reg2 |
T |
A |
6: 78,384,952 (GRCm39) |
Y165N |
possibly damaging |
Het |
Rnf7 |
T |
C |
9: 96,353,787 (GRCm39) |
*114W |
probably null |
Het |
Scg3 |
T |
C |
9: 75,584,090 (GRCm39) |
D137G |
probably damaging |
Het |
Serpinb7 |
T |
C |
1: 107,377,919 (GRCm39) |
V204A |
probably benign |
Het |
Sez6 |
C |
T |
11: 77,864,623 (GRCm39) |
H528Y |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,039,457 (GRCm39) |
S723T |
probably damaging |
Het |
Shtn1 |
T |
C |
19: 58,963,533 (GRCm39) |
D594G |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,063,904 (GRCm39) |
L2174P |
probably damaging |
Het |
Stk25 |
A |
G |
1: 93,553,181 (GRCm39) |
|
probably null |
Het |
Tep1 |
A |
T |
14: 51,098,505 (GRCm39) |
F429I |
probably damaging |
Het |
Thada |
T |
A |
17: 84,580,228 (GRCm39) |
I1409F |
probably benign |
Het |
Usp25 |
G |
A |
16: 76,873,909 (GRCm39) |
G495E |
probably benign |
Het |
Washc2 |
A |
G |
6: 116,231,114 (GRCm39) |
S844G |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,341,287 (GRCm39) |
H1176L |
possibly damaging |
Het |
Ypel1 |
T |
C |
16: 16,918,129 (GRCm39) |
N96D |
probably damaging |
Het |
Zfand6 |
C |
A |
7: 84,281,900 (GRCm39) |
V110L |
probably benign |
Het |
Zfp30 |
A |
G |
7: 29,488,846 (GRCm39) |
R8G |
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 |
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 |
|
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'- CCAGTCACCACACTTGTTTAACAG -3'
(R):5'- GACCTTTATGCTTGCACTGAGAG -3'
Sequencing Primer
(F):5'- TCACCACACTTGTTTAACAGTATCAC -3'
(R):5'- CTTGCACTGAGAGCTCTGTACAG -3'
|
Posted On |
2017-06-26 |