Incidental Mutation 'R8446:Mtmr7'
| ID |
654500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr7
|
| Ensembl Gene |
ENSMUSG00000039431 |
| Gene Name |
myotubularin related protein 7 |
| Synonyms |
|
| MMRRC Submission |
067827-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41059927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 62
(A62V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048890]
[ENSMUST00000048898]
[ENSMUST00000173957]
[ENSMUST00000174205]
|
| AlphaFold |
Q9Z2C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048890
AA Change: A62V
PolyPhen 2
Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431
AA Change: A62V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
4.9e-145 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048898
AA Change: A62V
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: A62V
| 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: ENSMUST00000173957
AA Change: A21V
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134020
Gene: ENSMUSG00000039431
AA Change: A21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
67 |
260 |
4e-64 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174205
AA Change: A62V
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: A62V
| 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: 99.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
G |
A |
5: 24,771,641 (GRCm39) |
R529* |
probably null |
Het |
| Afap1 |
T |
A |
5: 36,144,645 (GRCm39) |
S122T |
|
Het |
| Arnt |
TG |
T |
3: 95,382,014 (GRCm39) |
|
probably null |
Het |
| Bbs1 |
G |
A |
19: 4,947,633 (GRCm39) |
T307I |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,604,411 (GRCm39) |
S1439T |
|
Het |
| Camk4 |
T |
A |
18: 33,289,810 (GRCm39) |
H152Q |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,311,796 (GRCm39) |
M426K |
possibly damaging |
Het |
| Chrm3 |
C |
T |
13: 9,928,338 (GRCm39) |
G233S |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,454,248 (GRCm39) |
Y461N |
probably damaging |
Het |
| Clip1 |
G |
C |
5: 123,794,008 (GRCm39) |
P12A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,336 (GRCm39) |
L1584P |
possibly damaging |
Het |
| Commd5 |
T |
C |
15: 76,785,094 (GRCm39) |
S164P |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,913,743 (GRCm39) |
V154A |
probably damaging |
Het |
| Ddias |
C |
A |
7: 92,515,818 (GRCm39) |
C25F |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,329,875 (GRCm39) |
I3240F |
probably damaging |
Het |
| Fam186a |
T |
G |
15: 99,845,335 (GRCm39) |
D303A |
unknown |
Het |
| Igkv8-27 |
A |
G |
6: 70,148,932 (GRCm39) |
I74T |
probably damaging |
Het |
| Itgb2l |
G |
T |
16: 96,233,857 (GRCm39) |
Q278K |
probably damaging |
Het |
| Itgb7 |
T |
C |
15: 102,127,043 (GRCm39) |
E464G |
probably damaging |
Het |
| Kdm2a |
G |
A |
19: 4,406,916 (GRCm39) |
Q116* |
probably null |
Het |
| Krtap5-2 |
TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
TCCACAGGAACTACA |
7: 141,728,845 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,942,035 (GRCm39) |
|
probably null |
Het |
| Lnx2 |
A |
G |
5: 146,970,169 (GRCm39) |
L191S |
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,144,347 (GRCm39) |
M1239K |
probably benign |
Het |
| Nckap5l |
C |
A |
15: 99,323,930 (GRCm39) |
G858C |
probably benign |
Het |
| Nelfa |
A |
T |
5: 34,058,982 (GRCm39) |
L262Q |
probably damaging |
Het |
| Or2j3 |
A |
G |
17: 38,615,638 (GRCm39) |
V238A |
probably benign |
Het |
| Or8b46 |
A |
T |
9: 38,450,964 (GRCm39) |
M258L |
probably benign |
Het |
| Pdgfa |
T |
C |
5: 138,964,395 (GRCm39) |
T211A |
unknown |
Het |
| Prl3d2 |
A |
T |
13: 27,307,976 (GRCm39) |
I86F |
probably benign |
Het |
| Rpf2 |
T |
A |
10: 40,115,752 (GRCm39) |
T76S |
probably benign |
Het |
| Setbp1 |
C |
T |
18: 78,900,971 (GRCm39) |
D899N |
probably damaging |
Het |
| Slc35c1 |
T |
A |
2: 92,284,707 (GRCm39) |
E315D |
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,719,674 (GRCm39) |
M568L |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,314,602 (GRCm39) |
M737V |
probably benign |
Het |
| Sox17 |
A |
G |
1: 4,562,316 (GRCm39) |
Y295H |
possibly damaging |
Het |
| Tex44 |
A |
T |
1: 86,354,696 (GRCm39) |
I202F |
possibly damaging |
Het |
| Tinagl1 |
C |
T |
4: 130,060,694 (GRCm39) |
|
probably null |
Het |
| Tlr4 |
T |
A |
4: 66,757,673 (GRCm39) |
N155K |
probably damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,186,061 (GRCm39) |
F68I |
probably damaging |
Het |
| Trim67 |
G |
T |
8: 125,520,730 (GRCm39) |
A31S |
probably damaging |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,778,553 (GRCm39) |
M1316R |
unknown |
Het |
| Usp40 |
T |
C |
1: 87,906,190 (GRCm39) |
T682A |
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,128,953 (GRCm39) |
D272E |
probably benign |
Het |
| Zfp763 |
A |
T |
17: 33,238,473 (GRCm39) |
M224K |
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 |
|
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 |
|
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'- CACTGCTATTCCTAAGCATAACAGG -3'
(R):5'- AACCCTCCAGCTCTTGTAAGC -3'
Sequencing Primer
(F):5'- AACCCTGCCACGTGACTTG -3'
(R):5'- CTCCAGCTCTTGTAAGCAGAGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation