Incidental Mutation 'R9452:Mtmr3'
| ID |
714343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr3
|
| Ensembl Gene |
ENSMUSG00000034354 |
| Gene Name |
myotubularin related protein 3 |
| Synonyms |
FYVE-DSP1, 1700092A20Rik, ZFYVE10 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4430868-4544863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4441037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 539
(L539I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105569
(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: L539I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: L539I
| 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: L539I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: L539I
| 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: L538I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: L538I
| 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: L538I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: L538I
| 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 |
possibly damaging
Transcript: ENSMUST00000130716
AA Change: L539I
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: L539I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,612,382 (GRCm39) |
Y564C |
probably null |
Het |
| Ablim2 |
A |
T |
5: 36,015,198 (GRCm39) |
D470V |
probably benign |
Het |
| Actr10 |
T |
C |
12: 71,006,818 (GRCm39) |
|
probably null |
Het |
| Adam4 |
T |
A |
12: 81,467,071 (GRCm39) |
I517L |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,622,429 (GRCm39) |
D1659E |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,706,726 (GRCm39) |
V184A |
probably damaging |
Het |
| Bag1 |
A |
T |
4: 40,947,733 (GRCm39) |
I157N |
probably benign |
Het |
| Bicc1 |
A |
T |
10: 70,792,981 (GRCm39) |
D224E |
probably damaging |
Het |
| C2 |
T |
G |
17: 35,095,319 (GRCm39) |
I209L |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,289,720 (GRCm39) |
|
probably null |
Het |
| Capn1 |
T |
C |
19: 6,057,287 (GRCm39) |
Y387C |
probably damaging |
Het |
| Cebpa |
A |
G |
7: 34,819,033 (GRCm39) |
I64V |
possibly damaging |
Het |
| Celf4 |
T |
G |
18: 25,624,219 (GRCm39) |
M436L |
probably benign |
Het |
| Cfb |
C |
A |
17: 35,078,084 (GRCm39) |
V436L |
probably benign |
Het |
| Ciart |
C |
T |
3: 95,788,527 (GRCm39) |
C104Y |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,394 (GRCm39) |
L898P |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,687,833 (GRCm39) |
M388K |
possibly damaging |
Het |
| Cypt12 |
T |
C |
3: 18,002,843 (GRCm39) |
V72A |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,941,541 (GRCm39) |
D309G |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,018,448 (GRCm39) |
V1394A |
probably benign |
Het |
| Dpp3 |
A |
C |
19: 4,973,750 (GRCm39) |
S108A |
probably benign |
Het |
| Eif5b |
C |
T |
1: 38,084,861 (GRCm39) |
P903S |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,733,690 (GRCm39) |
D580G |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,852,901 (GRCm39) |
V44A |
probably benign |
Het |
| Fer |
A |
G |
17: 64,231,067 (GRCm39) |
K273E |
probably benign |
Het |
| Gzme |
T |
A |
14: 56,355,854 (GRCm39) |
I153F |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,744,462 (GRCm39) |
N2040K |
probably damaging |
Het |
| Ifi214 |
G |
T |
1: 173,356,894 (GRCm39) |
Q70K |
possibly damaging |
Het |
| Itpripl1 |
C |
A |
2: 126,983,334 (GRCm39) |
E263* |
probably null |
Het |
| Kat8 |
A |
G |
7: 127,524,421 (GRCm39) |
K433R |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lefty1 |
A |
T |
1: 180,762,849 (GRCm39) |
T59S |
probably benign |
Het |
| Lig3 |
C |
T |
11: 82,681,448 (GRCm39) |
T481M |
probably damaging |
Het |
| Lrfn1 |
A |
T |
7: 28,159,157 (GRCm39) |
I359F |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,850,726 (GRCm39) |
C90* |
probably null |
Het |
| Micall2 |
T |
G |
5: 139,703,311 (GRCm39) |
|
probably null |
Het |
| Obscn |
C |
A |
11: 58,924,962 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
T |
C |
3: 103,643,575 (GRCm39) |
T269A |
probably benign |
Het |
| Oprl1 |
C |
T |
2: 181,360,454 (GRCm39) |
A170V |
possibly damaging |
Het |
| Or4c112 |
C |
T |
2: 88,854,234 (GRCm39) |
G38R |
|
Het |
| Pdgfrb |
G |
A |
18: 61,198,798 (GRCm39) |
V319M |
possibly damaging |
Het |
| Pirb |
G |
A |
7: 3,720,617 (GRCm39) |
R294C |
possibly damaging |
Het |
| Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,614,841 (GRCm39) |
F228L |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,682,953 (GRCm39) |
D83V |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,734,992 (GRCm39) |
D111G |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,702 (GRCm39) |
S162P |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,256,151 (GRCm39) |
I1174K |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,485,465 (GRCm39) |
Y431N |
possibly damaging |
Het |
| Pter |
A |
G |
2: 12,985,111 (GRCm39) |
D147G |
probably benign |
Het |
| Rbsn |
T |
C |
6: 92,178,745 (GRCm39) |
D134G |
possibly damaging |
Het |
| Rnf220 |
T |
C |
4: 117,153,339 (GRCm39) |
D299G |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,595,163 (GRCm39) |
S2004N |
probably benign |
Het |
| Slc7a4 |
T |
A |
16: 17,391,271 (GRCm39) |
N593I |
probably damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,400,808 (GRCm39) |
H506R |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,399,152 (GRCm39) |
S2200P |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,669,610 (GRCm39) |
N1377K |
probably benign |
Het |
| Tle1 |
A |
T |
4: 72,040,596 (GRCm39) |
H654Q |
probably benign |
Het |
| Ttll6 |
G |
A |
11: 96,026,588 (GRCm39) |
R124H |
probably damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,778,132 (GRCm39) |
C516R |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,288 (GRCm39) |
S213P |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,697,257 (GRCm39) |
L771F |
possibly damaging |
Het |
| Washc4 |
A |
G |
10: 83,396,387 (GRCm39) |
N399S |
probably benign |
Het |
| Wdr37 |
G |
A |
13: 8,897,663 (GRCm39) |
H198Y |
|
Het |
| Zfp407 |
A |
G |
18: 84,580,579 (GRCm39) |
L178P |
probably benign |
Het |
| Zfp882 |
C |
T |
8: 72,668,831 (GRCm39) |
H553Y |
probably damaging |
Het |
| Zfp956 |
T |
C |
6: 47,940,370 (GRCm39) |
V243A |
probably benign |
Het |
|
| Other mutations in Mtmr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01568:Mtmr3
|
APN |
11 |
4,477,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01808:Mtmr3
|
APN |
11 |
4,447,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01994:Mtmr3
|
APN |
11 |
4,437,938 (GRCm39) |
missense |
probably benign |
|
|
IGL02839:Mtmr3
|
APN |
11 |
4,437,994 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02893:Mtmr3
|
APN |
11 |
4,457,632 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03370:Mtmr3
|
APN |
11 |
4,437,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
capellini
|
UTSW |
11 |
4,447,381 (GRCm39) |
nonsense |
probably null |
|
|
R0322:Mtmr3
|
UTSW |
11 |
4,437,505 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0363:Mtmr3
|
UTSW |
11 |
4,437,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0655:Mtmr3
|
UTSW |
11 |
4,438,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0866:Mtmr3
|
UTSW |
11 |
4,438,474 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1065:Mtmr3
|
UTSW |
11 |
4,442,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1417:Mtmr3
|
UTSW |
11 |
4,437,923 (GRCm39) |
missense |
probably benign |
|
|
R1698:Mtmr3
|
UTSW |
11 |
4,442,825 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1707:Mtmr3
|
UTSW |
11 |
4,454,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Mtmr3
|
UTSW |
11 |
4,449,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Mtmr3
|
UTSW |
11 |
4,449,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3956:Mtmr3
|
UTSW |
11 |
4,441,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4079:Mtmr3
|
UTSW |
11 |
4,441,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Mtmr3
|
UTSW |
11 |
4,437,947 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4577:Mtmr3
|
UTSW |
11 |
4,447,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:Mtmr3
|
UTSW |
11 |
4,441,067 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4676:Mtmr3
|
UTSW |
11 |
4,477,855 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4726:Mtmr3
|
UTSW |
11 |
4,457,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Mtmr3
|
UTSW |
11 |
4,438,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4799:Mtmr3
|
UTSW |
11 |
4,437,764 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4810:Mtmr3
|
UTSW |
11 |
4,448,046 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5744:Mtmr3
|
UTSW |
11 |
4,437,679 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5847:Mtmr3
|
UTSW |
11 |
4,432,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Mtmr3
|
UTSW |
11 |
4,448,951 (GRCm39) |
missense |
probably benign |
|
|
R6102:Mtmr3
|
UTSW |
11 |
4,437,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6105:Mtmr3
|
UTSW |
11 |
4,435,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6254:Mtmr3
|
UTSW |
11 |
4,447,381 (GRCm39) |
nonsense |
probably null |
|
|
R6443:Mtmr3
|
UTSW |
11 |
4,437,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6881:Mtmr3
|
UTSW |
11 |
4,439,725 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6941:Mtmr3
|
UTSW |
11 |
4,437,505 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6986:Mtmr3
|
UTSW |
11 |
4,439,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Mtmr3
|
UTSW |
11 |
4,448,896 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8469:Mtmr3
|
UTSW |
11 |
4,481,223 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R9169:Mtmr3
|
UTSW |
11 |
4,437,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9520:Mtmr3
|
UTSW |
11 |
4,441,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Mtmr3
|
UTSW |
11 |
4,440,992 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9667:Mtmr3
|
UTSW |
11 |
4,470,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0975:Mtmr3
|
UTSW |
11 |
4,438,441 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Mtmr3
|
UTSW |
11 |
4,435,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAACCAGTACCTTGAGACAG -3'
(R):5'- TTCTCAGGGATGTCACGGTG -3'
Sequencing Primer
(F):5'- GAGACAGCTGACACGTTTTTCAC -3'
(R):5'- ATGTCACGGTGAACTGTCTAGAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation