Incidental Mutation 'R9009:Mtmr7'
| ID |
685508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr7
|
| Ensembl Gene |
ENSMUSG00000039431 |
| Gene Name |
myotubularin related protein 7 |
| Synonyms |
|
| MMRRC Submission |
068839-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9009 (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 41008904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 469
(D469G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043851
(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: D469G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: D469G
| 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: D305G
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
AA Change: D305G
| 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: D469G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: D469G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (58/62) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
T |
A |
8: 120,878,279 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
C |
T |
1: 179,581,171 (GRCm39) |
S1677N |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,728,025 (GRCm39) |
|
probably benign |
Het |
| Arid3c |
A |
T |
4: 41,729,925 (GRCm39) |
I90N |
probably benign |
Het |
| Asb1 |
C |
A |
1: 91,480,205 (GRCm39) |
D301E |
unknown |
Het |
| Asb1 |
T |
G |
1: 91,480,206 (GRCm39) |
*302G |
probably null |
Het |
| Birc2 |
A |
T |
9: 7,833,937 (GRCm39) |
F181L |
probably benign |
Het |
| Bnip1 |
T |
A |
17: 27,001,590 (GRCm39) |
|
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
T |
C |
17: 43,116,135 (GRCm39) |
D575G |
possibly damaging |
Het |
| Cdca7 |
T |
A |
2: 72,314,273 (GRCm39) |
H248Q |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,143,192 (GRCm39) |
D567G |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,140,402 (GRCm39) |
I609V |
probably benign |
Het |
| Cnmd |
T |
A |
14: 79,894,085 (GRCm39) |
T101S |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,954,404 (GRCm39) |
T312A |
probably benign |
Het |
| Cript |
C |
A |
17: 87,338,475 (GRCm39) |
T41N |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,344,261 (GRCm39) |
I264V |
probably benign |
Het |
| Cyp4a32 |
C |
T |
4: 115,467,802 (GRCm39) |
T262I |
probably null |
Het |
| D430041D05Rik |
T |
A |
2: 104,240,521 (GRCm39) |
|
probably benign |
Het |
| Dctd |
C |
T |
8: 48,564,712 (GRCm39) |
P5S |
probably benign |
Het |
| Det1 |
T |
C |
7: 78,492,984 (GRCm39) |
N340S |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,262,232 (GRCm39) |
N2032D |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,840,116 (GRCm39) |
T164S |
probably benign |
Het |
| Emcn |
T |
C |
3: 137,124,775 (GRCm39) |
V196A |
possibly damaging |
Het |
| Fbxo32 |
A |
G |
15: 58,046,358 (GRCm39) |
I284T |
possibly damaging |
Het |
| Gimap3 |
C |
A |
6: 48,742,094 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Gm43302 |
C |
T |
5: 105,427,974 (GRCm39) |
D196N |
probably benign |
Het |
| Gpc6 |
C |
A |
14: 117,424,217 (GRCm39) |
H102N |
possibly damaging |
Het |
| Gpr158 |
A |
T |
2: 21,581,760 (GRCm39) |
D413V |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,555,382 (GRCm39) |
R767G |
probably damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,800,634 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
A |
C |
1: 163,696,291 (GRCm39) |
D640A |
probably damaging |
Het |
| Lmbrd2 |
A |
T |
15: 9,157,311 (GRCm39) |
Q183L |
possibly damaging |
Het |
| Malt1 |
A |
G |
18: 65,577,911 (GRCm39) |
I135V |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,057,109 (GRCm39) |
V528A |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,167,163 (GRCm39) |
S363P |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,073,323 (GRCm39) |
Y44C |
probably damaging |
Het |
| Mstn |
C |
T |
1: 53,103,131 (GRCm39) |
Q156* |
probably null |
Het |
| Muc6 |
A |
G |
7: 141,217,018 (GRCm39) |
S2552P |
possibly damaging |
Het |
| Myo1f |
C |
A |
17: 33,823,662 (GRCm39) |
N1063K |
probably benign |
Het |
| Or52k2 |
T |
A |
7: 102,253,642 (GRCm39) |
I27N |
probably benign |
Het |
| Or5af1 |
A |
T |
11: 58,722,280 (GRCm39) |
Y100F |
probably benign |
Het |
| Or6z5 |
G |
A |
7: 6,477,399 (GRCm39) |
V97M |
probably benign |
Het |
| Orai2 |
A |
G |
5: 136,179,430 (GRCm39) |
V201A |
possibly damaging |
Het |
| Pcdhga6 |
A |
T |
18: 37,841,878 (GRCm39) |
T533S |
possibly damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,881,552 (GRCm39) |
K907N |
|
Het |
| Plaat5 |
G |
T |
19: 7,614,823 (GRCm39) |
M228I |
probably benign |
Het |
| Ppp1r15a |
A |
T |
7: 45,174,049 (GRCm39) |
V253E |
probably benign |
Het |
| Ppp1r9b |
A |
G |
11: 94,887,467 (GRCm39) |
E493G |
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,322,997 (GRCm39) |
N151S |
probably benign |
Het |
| Prkcd |
C |
T |
14: 30,329,297 (GRCm39) |
A163T |
probably damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,849,994 (GRCm39) |
E26V |
probably damaging |
Het |
| Ptprm |
A |
T |
17: 66,996,354 (GRCm39) |
N1278K |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,001,653 (GRCm39) |
S1248T |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,338,927 (GRCm39) |
I1186M |
probably damaging |
Het |
| Sv2a |
T |
C |
3: 96,094,409 (GRCm39) |
F248S |
probably benign |
Het |
| Tas2r116 |
T |
A |
6: 132,832,963 (GRCm39) |
I188K |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,693,671 (GRCm39) |
T169A |
probably benign |
Het |
| Tecrl |
C |
A |
5: 83,432,121 (GRCm39) |
C258F |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,193,360 (GRCm39) |
E358V |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,759,203 (GRCm39) |
S219T |
possibly damaging |
Het |
| Tpgs2 |
T |
A |
18: 25,301,777 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,744,219 (GRCm39) |
I1284F |
probably damaging |
Het |
| Vmn1r160 |
T |
C |
7: 22,571,127 (GRCm39) |
V160A |
possibly damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,671 (GRCm39) |
L139P |
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 |
|
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 |
|
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'- CCAGCAAAGCCTTGAAGCTC -3'
(R):5'- AATAGTAGTGGTGTGGAGACTACTG -3'
Sequencing Primer
(F):5'- CAGCAAAGCCTTGAAGCTCTTATTTC -3'
(R):5'- GTTTCTGTACCATGCCAAAAAGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation