Incidental Mutation 'R5929:Mtmr7'
| ID |
460095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr7
|
| Ensembl Gene |
ENSMUSG00000039431 |
| Gene Name |
myotubularin related protein 7 |
| Synonyms |
|
| MMRRC Submission |
044124-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5929 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 41011399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048890]
[ENSMUST00000048890]
[ENSMUST00000048898]
[ENSMUST00000048898]
[ENSMUST00000173487]
[ENSMUST00000173487]
[ENSMUST00000173487]
[ENSMUST00000173487]
[ENSMUST00000174205]
[ENSMUST00000174205]
[ENSMUST00000174205]
[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 |
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 |
probably null
Transcript: ENSMUST00000048898
|
| SMART Domains |
Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
| 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 null
Transcript: ENSMUST00000048898
|
| SMART Domains |
Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
| 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 null
Transcript: ENSMUST00000173487
|
| SMART Domains |
Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
| 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 null
Transcript: ENSMUST00000173487
|
| SMART Domains |
Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
| 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 null
Transcript: ENSMUST00000173487
|
| SMART Domains |
Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
| 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 null
Transcript: ENSMUST00000173487
|
| SMART Domains |
Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
| 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 null
Transcript: ENSMUST00000174205
|
| SMART Domains |
Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174205
|
| SMART Domains |
Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174205
|
| SMART Domains |
Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174205
|
| SMART Domains |
Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
| Meta Mutation Damage Score |
0.9494 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
99% (84/85) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang4 |
C |
T |
14: 52,001,708 (GRCm39) |
C80Y |
probably damaging |
Het |
| Ankib1 |
T |
C |
5: 3,819,633 (GRCm39) |
I95M |
possibly damaging |
Het |
| Ankrd1 |
T |
C |
19: 36,095,277 (GRCm39) |
E137G |
possibly damaging |
Het |
| Car6 |
T |
C |
4: 150,280,592 (GRCm39) |
H84R |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,629,993 (GRCm39) |
L463Q |
probably damaging |
Het |
| Casz1 |
T |
A |
4: 149,023,426 (GRCm39) |
L491Q |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,023,153 (GRCm39) |
S400L |
probably damaging |
Het |
| Catsperd |
A |
T |
17: 56,959,493 (GRCm39) |
H311L |
probably benign |
Het |
| Ccdc83 |
A |
G |
7: 89,885,524 (GRCm39) |
|
probably benign |
Het |
| Cd163 |
G |
A |
6: 124,303,568 (GRCm39) |
|
probably null |
Het |
| Cd244a |
A |
T |
1: 171,386,935 (GRCm39) |
R15W |
probably damaging |
Het |
| Ces3b |
A |
G |
8: 105,819,797 (GRCm39) |
K490R |
probably damaging |
Het |
| Chordc1 |
T |
C |
9: 18,215,658 (GRCm39) |
S137P |
possibly damaging |
Het |
| Col4a1 |
T |
A |
8: 11,266,788 (GRCm39) |
T1140S |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,940,243 (GRCm39) |
E1229G |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,853,419 (GRCm39) |
S20P |
possibly damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,048 (GRCm39) |
H327Q |
possibly damaging |
Het |
| Depdc5 |
G |
T |
5: 33,132,850 (GRCm39) |
E646* |
probably null |
Het |
| Dnah5 |
G |
A |
15: 28,311,353 (GRCm39) |
M1777I |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,311,354 (GRCm39) |
A1778S |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,601,019 (GRCm39) |
Y39H |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,379,410 (GRCm39) |
I1453F |
possibly damaging |
Het |
| Fyn |
T |
A |
10: 39,427,457 (GRCm39) |
W447R |
probably damaging |
Het |
| Gabra6 |
T |
A |
11: 42,208,389 (GRCm39) |
M148L |
probably damaging |
Het |
| Gcfc2 |
T |
A |
6: 81,923,580 (GRCm39) |
V32D |
probably damaging |
Het |
| Ginm1 |
G |
T |
10: 7,649,814 (GRCm39) |
L160I |
probably benign |
Het |
| Gm19345 |
A |
G |
7: 19,591,747 (GRCm39) |
Y221H |
probably damaging |
Het |
| Gpr155 |
G |
A |
2: 73,204,011 (GRCm39) |
R268* |
probably null |
Het |
| Hacl1 |
T |
A |
14: 31,338,345 (GRCm39) |
M411L |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 38,074,394 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
C |
A |
1: 150,453,047 (GRCm39) |
E5423* |
probably null |
Het |
| Ipo4 |
T |
C |
14: 55,868,646 (GRCm39) |
H454R |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,400,297 (GRCm39) |
I1693F |
probably benign |
Het |
| Kif12 |
T |
C |
4: 63,086,754 (GRCm39) |
T361A |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,078,945 (GRCm39) |
E431G |
probably damaging |
Het |
| Kif27 |
C |
T |
13: 58,491,784 (GRCm39) |
A452T |
probably benign |
Het |
| Kifbp |
A |
T |
10: 62,395,181 (GRCm39) |
I487N |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,050,436 (GRCm39) |
Y363* |
probably null |
Het |
| Lrrc8d |
A |
T |
5: 105,960,472 (GRCm39) |
K294I |
probably damaging |
Het |
| Mapk3 |
A |
C |
7: 126,359,030 (GRCm39) |
|
probably benign |
Het |
| Mogat1 |
A |
T |
1: 78,500,370 (GRCm39) |
I145F |
probably benign |
Het |
| Ndufaf6 |
T |
C |
4: 11,051,150 (GRCm39) |
N317D |
probably benign |
Het |
| Nfe2l1 |
G |
T |
11: 96,718,185 (GRCm39) |
Q117K |
probably damaging |
Het |
| Odad3 |
T |
C |
9: 21,913,718 (GRCm39) |
E18G |
possibly damaging |
Het |
| Olfm3 |
T |
G |
3: 114,895,529 (GRCm39) |
I137S |
probably damaging |
Het |
| Or4f7d-ps1 |
T |
A |
2: 111,674,631 (GRCm39) |
|
noncoding transcript |
Het |
| Otub1 |
G |
A |
19: 7,177,350 (GRCm39) |
S99F |
probably damaging |
Het |
| Padi2 |
T |
G |
4: 140,671,848 (GRCm39) |
|
probably null |
Het |
| Paip1 |
C |
T |
13: 119,582,326 (GRCm39) |
T268I |
probably damaging |
Het |
| Pak1ip1 |
T |
C |
13: 41,158,276 (GRCm39) |
S50P |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Phkb |
A |
G |
8: 86,697,543 (GRCm39) |
I451V |
probably benign |
Het |
| Plcg1 |
T |
A |
2: 160,595,522 (GRCm39) |
|
probably null |
Het |
| Prg4 |
A |
G |
1: 150,329,880 (GRCm39) |
F722S |
probably benign |
Het |
| Prss3 |
T |
C |
6: 41,353,738 (GRCm39) |
|
probably null |
Het |
| Psmd3 |
C |
T |
11: 98,586,422 (GRCm39) |
P530L |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,507,322 (GRCm39) |
D609E |
probably damaging |
Het |
| Sema3f |
T |
C |
9: 107,569,392 (GRCm39) |
Y82C |
probably damaging |
Het |
| Shoc1 |
G |
T |
4: 59,092,497 (GRCm39) |
S228* |
probably null |
Het |
| Slc35b2 |
G |
T |
17: 45,877,587 (GRCm39) |
W238L |
probably benign |
Het |
| Sox12 |
T |
C |
2: 152,239,308 (GRCm39) |
Y104C |
probably damaging |
Het |
| Stx5a |
T |
G |
19: 8,719,675 (GRCm39) |
D13E |
probably damaging |
Het |
| Tlr7 |
C |
A |
X: 166,089,878 (GRCm39) |
G536V |
probably damaging |
Het |
| Tspan12 |
A |
G |
6: 21,772,746 (GRCm39) |
S220P |
possibly damaging |
Het |
| Utp11 |
T |
C |
4: 124,576,036 (GRCm39) |
T173A |
probably damaging |
Het |
| Wrnip1 |
G |
C |
13: 32,990,949 (GRCm39) |
D403H |
probably damaging |
Het |
| Xpnpep1 |
T |
C |
19: 53,001,920 (GRCm39) |
T109A |
probably damaging |
Het |
| Zfp354b |
A |
T |
11: 50,813,282 (GRCm39) |
F548I |
probably damaging |
Het |
| Zup1 |
A |
T |
10: 33,825,043 (GRCm39) |
Y146* |
probably null |
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 |
|
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'- TACACAGGAAGTTCCCAAACTGG -3'
(R):5'- TGTTCAGGAAAAGCTTTCTGTCTC -3'
Sequencing Primer
(F):5'- TTCCCAAACTGGCAGGAATAAACATG -3'
(R):5'- GGAAAAGCTTTCTGTCTCACATATTC -3'
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| Posted On |
2017-02-28 |
Incidental Mutation