Incidental Mutation 'IGL01808:Mtmr3'
| ID |
155743 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtmr3
|
| Ensembl Gene |
ENSMUSG00000034354 |
| Gene Name |
myotubularin related protein 3 |
| Synonyms |
FYVE-DSP1, 1700092A20Rik, ZFYVE10 |
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01808
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4480868-4594863 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4497404 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 352
(I352T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040448]
[ENSMUST00000109943]
[ENSMUST00000123506]
[ENSMUST00000128256]
[ENSMUST00000130716]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040448
AA Change: I352T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: I352T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
126 |
527 |
7.6e-149 |
PFAM |
|
low complexity region
|
578 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
832 |
N/A |
INTRINSIC |
|
coiled coil region
|
1027 |
1058 |
N/A |
INTRINSIC |
|
FYVE
|
1072 |
1141 |
3.63e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109943
AA Change: I352T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: I352T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
126 |
527 |
7.6e-149 |
PFAM |
|
low complexity region
|
578 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
832 |
N/A |
INTRINSIC |
|
coiled coil region
|
1027 |
1058 |
N/A |
INTRINSIC |
|
FYVE
|
1072 |
1141 |
3.63e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123506
AA Change: I351T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: I351T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
126 |
524 |
1e-138 |
PFAM |
|
low complexity region
|
577 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
831 |
N/A |
INTRINSIC |
|
coiled coil region
|
1026 |
1057 |
N/A |
INTRINSIC |
|
FYVE
|
1108 |
1177 |
7.77e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128256
AA Change: I351T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: I351T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
125 |
526 |
7.7e-149 |
PFAM |
|
low complexity region
|
577 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
831 |
N/A |
INTRINSIC |
|
coiled coil region
|
1026 |
1057 |
N/A |
INTRINSIC |
|
FYVE
|
1071 |
1149 |
1.42e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130716
AA Change: I352T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: I352T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
126 |
527 |
2.2e-148 |
PFAM |
|
low complexity region
|
578 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
832 |
N/A |
INTRINSIC |
|
coiled coil region
|
1027 |
1058 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144242
|
| Coding Region Coverage |
|
| 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 dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased serum alkaline phosphatase level and, in males, impaired glucose tolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ager |
A |
T |
17: 34,599,457 |
Q266L |
probably damaging |
Het |
| Amz1 |
A |
G |
5: 140,741,279 |
|
probably benign |
Het |
| Ebf2 |
C |
T |
14: 67,414,483 |
A488V |
probably benign |
Het |
| Gm5885 |
A |
T |
6: 133,531,218 |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,298,697 |
S220P |
probably damaging |
Het |
| Gpr171 |
G |
A |
3: 59,098,151 |
P68S |
probably damaging |
Het |
| H2afx |
T |
C |
9: 44,334,949 |
I63T |
possibly damaging |
Het |
| H2-M9 |
A |
T |
17: 36,641,819 |
|
probably null |
Het |
| Igsf9 |
T |
C |
1: 172,484,803 |
V27A |
probably benign |
Het |
| Kcnh6 |
G |
T |
11: 106,023,927 |
|
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 120,023,169 |
|
probably null |
Het |
| Mllt6 |
C |
A |
11: 97,672,484 |
H298N |
possibly damaging |
Het |
| Mtrr |
T |
C |
13: 68,566,093 |
D509G |
probably benign |
Het |
| Ncan |
C |
T |
8: 70,107,440 |
|
probably null |
Het |
| Olfr612 |
T |
A |
7: 103,538,574 |
Y220F |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,309,014 |
V459A |
probably damaging |
Het |
| Phrf1 |
C |
A |
7: 141,260,966 |
P1274Q |
probably damaging |
Het |
| Slc4a2 |
T |
C |
5: 24,440,207 |
L1125P |
probably damaging |
Het |
| Synpo |
T |
C |
18: 60,602,208 |
I650V |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,662,507 |
R86H |
probably damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,325,555 |
V501A |
probably benign |
Het |
| Vmn1r203 |
T |
C |
13: 22,524,547 |
I166T |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,710,286 |
C933R |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,576,025 |
F342Y |
probably damaging |
Het |
|
| Other mutations in Mtmr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01568:Mtmr3
|
APN |
11 |
4527861 |
missense |
probably damaging |
1.00 |
|
IGL01994:Mtmr3
|
APN |
11 |
4487938 |
missense |
probably benign |
|
|
IGL02839:Mtmr3
|
APN |
11 |
4487994 |
missense |
probably benign |
0.03 |
|
IGL02893:Mtmr3
|
APN |
11 |
4507632 |
missense |
possibly damaging |
0.89 |
|
IGL03370:Mtmr3
|
APN |
11 |
4487385 |
missense |
probably damaging |
1.00 |
|
capellini
|
UTSW |
11 |
4497381 |
nonsense |
probably null |
|
|
R0322:Mtmr3
|
UTSW |
11 |
4487505 |
missense |
possibly damaging |
0.59 |
|
R0363:Mtmr3
|
UTSW |
11 |
4487536 |
missense |
probably damaging |
0.99 |
|
R0655:Mtmr3
|
UTSW |
11 |
4488610 |
missense |
probably damaging |
1.00 |
|
R0866:Mtmr3
|
UTSW |
11 |
4488474 |
missense |
probably benign |
0.03 |
|
R1065:Mtmr3
|
UTSW |
11 |
4492859 |
missense |
probably damaging |
1.00 |
|
R1417:Mtmr3
|
UTSW |
11 |
4487923 |
missense |
probably benign |
|
|
R1698:Mtmr3
|
UTSW |
11 |
4492825 |
missense |
possibly damaging |
0.95 |
|
R1707:Mtmr3
|
UTSW |
11 |
4504095 |
missense |
probably damaging |
1.00 |
|
R2191:Mtmr3
|
UTSW |
11 |
4499032 |
missense |
probably damaging |
1.00 |
|
R2192:Mtmr3
|
UTSW |
11 |
4499032 |
missense |
probably damaging |
1.00 |
|
R3956:Mtmr3
|
UTSW |
11 |
4491138 |
missense |
probably damaging |
1.00 |
|
R4079:Mtmr3
|
UTSW |
11 |
4491057 |
missense |
probably damaging |
1.00 |
|
R4320:Mtmr3
|
UTSW |
11 |
4487947 |
missense |
probably benign |
0.39 |
|
R4577:Mtmr3
|
UTSW |
11 |
4497375 |
missense |
probably damaging |
1.00 |
|
R4622:Mtmr3
|
UTSW |
11 |
4491067 |
missense |
possibly damaging |
0.62 |
|
R4676:Mtmr3
|
UTSW |
11 |
4527855 |
missense |
probably benign |
0.12 |
|
R4726:Mtmr3
|
UTSW |
11 |
4507634 |
missense |
probably damaging |
1.00 |
|
R4781:Mtmr3
|
UTSW |
11 |
4488435 |
missense |
probably benign |
0.00 |
|
R4799:Mtmr3
|
UTSW |
11 |
4487764 |
missense |
probably benign |
0.12 |
|
R4810:Mtmr3
|
UTSW |
11 |
4498046 |
missense |
probably benign |
0.33 |
|
R5744:Mtmr3
|
UTSW |
11 |
4487679 |
missense |
possibly damaging |
0.47 |
|
R5847:Mtmr3
|
UTSW |
11 |
4482925 |
missense |
probably damaging |
1.00 |
|
R5933:Mtmr3
|
UTSW |
11 |
4498951 |
missense |
probably benign |
|
|
R6102:Mtmr3
|
UTSW |
11 |
4487673 |
missense |
probably damaging |
0.99 |
|
R6105:Mtmr3
|
UTSW |
11 |
4485432 |
missense |
probably damaging |
0.99 |
|
R6254:Mtmr3
|
UTSW |
11 |
4497381 |
nonsense |
probably null |
|
|
R6443:Mtmr3
|
UTSW |
11 |
4487358 |
missense |
probably damaging |
0.99 |
|
R6881:Mtmr3
|
UTSW |
11 |
4489725 |
missense |
probably benign |
0.33 |
|
R6941:Mtmr3
|
UTSW |
11 |
4487505 |
missense |
possibly damaging |
0.59 |
|
R6986:Mtmr3
|
UTSW |
11 |
4489692 |
missense |
probably damaging |
1.00 |
|
R7045:Mtmr3
|
UTSW |
11 |
4498896 |
missense |
possibly damaging |
0.94 |
|
R8469:Mtmr3
|
UTSW |
11 |
4531223 |
start codon destroyed |
probably null |
0.95 |
|
R9169:Mtmr3
|
UTSW |
11 |
4487739 |
missense |
probably benign |
0.00 |
|
R9452:Mtmr3
|
UTSW |
11 |
4491037 |
missense |
probably damaging |
1.00 |
|
R9520:Mtmr3
|
UTSW |
11 |
4491131 |
missense |
probably damaging |
1.00 |
|
R9564:Mtmr3
|
UTSW |
11 |
4490992 |
missense |
possibly damaging |
0.96 |
|
R9667:Mtmr3
|
UTSW |
11 |
4520890 |
missense |
probably damaging |
1.00 |
|
T0975:Mtmr3
|
UTSW |
11 |
4488441 |
missense |
probably benign |
|
|
Z1176:Mtmr3
|
UTSW |
11 |
4485913 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation