Incidental Mutation 'R7052:Mtmr7'
ID |
547658 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr7
|
Ensembl Gene |
ENSMUSG00000039431 |
Gene Name |
myotubularin related protein 7 |
Synonyms |
|
MMRRC Submission |
045149-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7052 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41008874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 315
(H315R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048890]
[ENSMUST00000048898]
[ENSMUST00000098817]
[ENSMUST00000173487]
[ENSMUST00000174205]
|
AlphaFold |
Q9Z2C9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048890
|
SMART Domains |
Protein: ENSMUSP00000043367 Gene: ENSMUSG00000039431
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
450 |
4.9e-145 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048898
AA Change: H479R
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043851 Gene: ENSMUSG00000039431 AA Change: H479R
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: ENSMUST00000098817
|
SMART Domains |
Protein: ENSMUSP00000096415 Gene: ENSMUSG00000031600
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
Blast:UBCc
|
29 |
128 |
6e-6 |
BLAST |
low complexity region
|
155 |
164 |
N/A |
INTRINSIC |
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
Pfam:Mod_r
|
235 |
380 |
2.7e-39 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173487
AA Change: H315R
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000134281 Gene: ENSMUSG00000039431 AA Change: H315R
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 |
possibly damaging
Transcript: ENSMUST00000174205
AA Change: H479R
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000134731 Gene: ENSMUSG00000039431 AA Change: H479R
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (63/63) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
C |
T |
6: 142,604,261 (GRCm39) |
R658H |
probably benign |
Het |
Als2cl |
C |
T |
9: 110,727,151 (GRCm39) |
R906C |
probably damaging |
Het |
Asb8 |
T |
C |
15: 98,034,282 (GRCm39) |
H91R |
probably damaging |
Het |
Atp8b3 |
C |
T |
10: 80,355,858 (GRCm39) |
E1285K |
probably benign |
Het |
Bves |
G |
A |
10: 45,222,386 (GRCm39) |
R172H |
possibly damaging |
Het |
C6 |
A |
T |
15: 4,763,177 (GRCm39) |
N59I |
probably damaging |
Het |
Capn15 |
A |
T |
17: 26,180,724 (GRCm39) |
V782D |
probably damaging |
Het |
Ccdc168 |
T |
A |
1: 44,096,466 (GRCm39) |
Y1544F |
possibly damaging |
Het |
Ccdc18 |
T |
C |
5: 108,309,554 (GRCm39) |
L383S |
probably benign |
Het |
Coro6 |
C |
A |
11: 77,357,056 (GRCm39) |
N119K |
probably benign |
Het |
Cps1 |
T |
A |
1: 67,237,569 (GRCm39) |
D1023E |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,172,262 (GRCm39) |
|
probably null |
Het |
Ero1a |
T |
A |
14: 45,544,040 (GRCm39) |
K55* |
probably null |
Het |
Fam209 |
G |
A |
2: 172,314,751 (GRCm39) |
G80D |
possibly damaging |
Het |
Fam89b |
G |
A |
19: 5,779,276 (GRCm39) |
R94C |
probably damaging |
Het |
Fut1 |
A |
G |
7: 45,269,181 (GRCm39) |
*323W |
probably null |
Het |
Garin2 |
C |
T |
12: 78,766,176 (GRCm39) |
T315I |
probably benign |
Het |
Gm47985 |
T |
A |
1: 151,058,890 (GRCm39) |
F177Y |
possibly damaging |
Het |
Gstm7 |
T |
A |
3: 107,838,633 (GRCm39) |
D37V |
probably damaging |
Het |
H2-Aa |
T |
A |
17: 34,503,484 (GRCm39) |
S38C |
possibly damaging |
Het |
Ighg2c |
T |
C |
12: 113,252,343 (GRCm39) |
T70A |
|
Het |
Ino80 |
A |
G |
2: 119,257,068 (GRCm39) |
|
probably null |
Het |
Irf8 |
C |
T |
8: 121,466,581 (GRCm39) |
R9W |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,310,785 (GRCm39) |
N197S |
probably damaging |
Het |
Kif11 |
T |
A |
19: 37,373,040 (GRCm39) |
C86* |
probably null |
Het |
Lonp1 |
A |
T |
17: 56,933,549 (GRCm39) |
F109I |
probably benign |
Het |
Mlkl |
G |
A |
8: 112,046,074 (GRCm39) |
S312L |
possibly damaging |
Het |
Mroh9 |
T |
A |
1: 162,866,525 (GRCm39) |
Q706L |
possibly damaging |
Het |
Myh7b |
G |
C |
2: 155,456,053 (GRCm39) |
R146P |
probably damaging |
Het |
Naip5 |
A |
G |
13: 100,358,855 (GRCm39) |
Y794H |
probably benign |
Het |
Nup153 |
A |
T |
13: 46,840,949 (GRCm39) |
N886K |
probably benign |
Het |
Nup205 |
A |
G |
6: 35,192,077 (GRCm39) |
R1047G |
possibly damaging |
Het |
Oog3 |
A |
T |
4: 143,887,027 (GRCm39) |
L31Q |
probably damaging |
Het |
Or5b123 |
T |
A |
19: 13,596,990 (GRCm39) |
S155T |
probably benign |
Het |
Or6c38 |
T |
C |
10: 128,929,744 (GRCm39) |
Y33C |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,717,012 (GRCm39) |
N495S |
probably benign |
Het |
Patj |
A |
G |
4: 98,565,497 (GRCm39) |
Q1070R |
probably benign |
Het |
Pax1 |
G |
A |
2: 147,207,824 (GRCm39) |
R232H |
probably damaging |
Het |
Pcdhb1 |
A |
G |
18: 37,399,582 (GRCm39) |
N511S |
probably damaging |
Het |
Pigs |
C |
T |
11: 78,232,211 (GRCm39) |
L448F |
probably damaging |
Het |
Pih1d2 |
A |
G |
9: 50,533,077 (GRCm39) |
Y235C |
probably damaging |
Het |
Pkd2l2 |
T |
A |
18: 34,558,212 (GRCm39) |
I297K |
possibly damaging |
Het |
Pou2f1 |
C |
T |
1: 165,742,684 (GRCm39) |
V82I |
possibly damaging |
Het |
Pramel1 |
T |
C |
4: 143,123,074 (GRCm39) |
L17P |
probably damaging |
Het |
Riok1 |
C |
T |
13: 38,220,991 (GRCm39) |
|
probably benign |
Het |
Scg3 |
C |
A |
9: 75,568,664 (GRCm39) |
E358* |
probably null |
Het |
Siglec15 |
T |
C |
18: 78,091,946 (GRCm39) |
E85G |
probably damaging |
Het |
Snx20 |
T |
C |
8: 89,356,606 (GRCm39) |
H70R |
probably benign |
Het |
Spi1 |
T |
A |
2: 90,943,685 (GRCm39) |
S76R |
probably damaging |
Het |
Stat5a |
T |
C |
11: 100,770,111 (GRCm39) |
S463P |
probably damaging |
Het |
Svs5 |
A |
G |
2: 164,080,126 (GRCm39) |
I13T |
unknown |
Het |
Tmem132e |
T |
C |
11: 82,328,189 (GRCm39) |
S406P |
probably damaging |
Het |
Top1mt |
T |
C |
15: 75,540,560 (GRCm39) |
N237S |
possibly damaging |
Het |
Trav6d-4 |
G |
A |
14: 52,991,053 (GRCm39) |
V30M |
possibly damaging |
Het |
Trp73 |
A |
T |
4: 154,149,140 (GRCm39) |
M217K |
probably damaging |
Het |
Vmn1r58 |
A |
G |
7: 5,414,134 (GRCm39) |
I32T |
probably benign |
Het |
Vmn1r9 |
T |
C |
6: 57,048,396 (GRCm39) |
M157T |
probably benign |
Het |
Vmn2r100 |
C |
T |
17: 19,751,556 (GRCm39) |
S533F |
possibly damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,821,507 (GRCm39) |
M160K |
probably benign |
Het |
Vps13d |
C |
A |
4: 144,889,914 (GRCm39) |
A597S |
probably benign |
Het |
Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
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 |
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 |
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'- ATAGCCACGCATCTTCCCTG -3'
(R):5'- GTAAGAAAGTTTCTGTACCATGCC -3'
Sequencing Primer
(F):5'- GGTGGGTTTTATGTCCAGCAAAGC -3'
(R):5'- GCCATTGACCAGTGGTAATGTCAC -3'
|
Posted On |
2019-05-13 |