Incidental Mutation 'R4577:Mtmr3'
| ID |
342567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr3
|
| Ensembl Gene |
ENSMUSG00000034354 |
| Gene Name |
myotubularin related protein 3 |
| Synonyms |
FYVE-DSP1, 1700092A20Rik, ZFYVE10 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4577 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4430868-4544863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 4447375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 361
(L361V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116315
(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: L362V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: L362V
| 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: L362V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: L362V
| 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 |
possibly damaging
Transcript: ENSMUST00000123506
AA Change: L361V
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: L361V
| 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: L361V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: L361V
| 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: L362V
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: L362V
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
C |
4: 144,430,323 (GRCm39) |
I222S |
probably damaging |
Het |
| Abca1 |
C |
A |
4: 53,062,568 (GRCm39) |
C1429F |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,364,892 (GRCm39) |
E1524G |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,510,090 (GRCm39) |
V759A |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,684,051 (GRCm39) |
Q538R |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,904,444 (GRCm39) |
D67G |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,277,773 (GRCm39) |
S2060T |
possibly damaging |
Het |
| Cand2 |
G |
A |
6: 115,768,220 (GRCm39) |
C455Y |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,191 (GRCm39) |
D366G |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,711,152 (GRCm39) |
R595G |
probably damaging |
Het |
| Chaf1a |
G |
A |
17: 56,372,184 (GRCm39) |
R784Q |
probably damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Clca4a |
C |
A |
3: 144,660,730 (GRCm39) |
S698I |
probably damaging |
Het |
| Dnah5 |
A |
C |
15: 28,289,396 (GRCm39) |
Y1195S |
probably benign |
Het |
| Dynlt4 |
A |
G |
4: 116,985,812 (GRCm39) |
T212A |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,114,308 (GRCm39) |
I1229T |
probably damaging |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
| Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
| F3 |
A |
G |
3: 121,527,763 (GRCm39) |
I254V |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
| Fsd1l |
T |
C |
4: 53,686,397 (GRCm39) |
F270S |
probably damaging |
Het |
| Galnt3 |
T |
C |
2: 65,928,203 (GRCm39) |
Y231C |
probably benign |
Het |
| Gm10220 |
A |
C |
5: 26,322,869 (GRCm39) |
I181S |
probably benign |
Het |
| Gnb5 |
G |
A |
9: 75,250,823 (GRCm39) |
V316I |
possibly damaging |
Het |
| Gys2 |
A |
G |
6: 142,400,236 (GRCm39) |
F325S |
possibly damaging |
Het |
| Hmgn2 |
G |
A |
4: 133,694,668 (GRCm39) |
|
probably benign |
Het |
| Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
| Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
| Iqub |
A |
T |
6: 24,501,290 (GRCm39) |
I220N |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,085,529 (GRCm39) |
T2259A |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 66,158,063 (GRCm39) |
K4R |
unknown |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| L3mbtl2 |
G |
A |
15: 81,570,486 (GRCm39) |
E655K |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,711,731 (GRCm39) |
C3163Y |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,750,550 (GRCm39) |
R934* |
probably null |
Het |
| Map4 |
A |
G |
9: 109,910,489 (GRCm39) |
T1061A |
possibly damaging |
Het |
| Mbnl1 |
G |
A |
3: 60,437,199 (GRCm39) |
V50I |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,492,379 (GRCm39) |
Q132* |
probably null |
Het |
| Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,124,827 (GRCm39) |
E1792G |
probably damaging |
Het |
| Nup88 |
C |
A |
11: 70,860,543 (GRCm39) |
A55S |
probably damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,167 (GRCm39) |
Y252* |
probably null |
Het |
| Or4a79 |
T |
C |
2: 89,552,387 (GRCm39) |
K23E |
possibly damaging |
Het |
| Pacs1 |
G |
T |
19: 5,193,861 (GRCm39) |
S556* |
probably null |
Het |
| Parp4 |
A |
G |
14: 56,827,867 (GRCm39) |
E206G |
probably benign |
Het |
| Paxbp1 |
T |
G |
16: 90,812,042 (GRCm39) |
K889N |
probably damaging |
Het |
| Pcdhga2 |
G |
A |
18: 37,802,302 (GRCm39) |
A49T |
possibly damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,609,014 (GRCm39) |
L292* |
probably null |
Het |
| Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
| Plec |
C |
A |
15: 76,068,269 (GRCm39) |
Q1142H |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,037,257 (GRCm39) |
S87P |
probably damaging |
Het |
| Prss28 |
T |
C |
17: 25,529,079 (GRCm39) |
V140A |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,769,786 (GRCm39) |
S258T |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,336,866 (GRCm39) |
C932* |
probably null |
Het |
| Sdc2 |
T |
C |
15: 33,017,278 (GRCm39) |
Y31H |
probably damaging |
Het |
| Selenoh |
T |
C |
2: 84,500,675 (GRCm39) |
E55G |
possibly damaging |
Het |
| Serpina3k |
T |
G |
12: 104,310,451 (GRCm39) |
V327G |
possibly damaging |
Het |
| Setd1b |
A |
G |
5: 123,286,679 (GRCm39) |
E575G |
unknown |
Het |
| Slco1a4 |
A |
T |
6: 141,765,266 (GRCm39) |
S325R |
probably damaging |
Het |
| Smtnl1 |
C |
A |
2: 84,648,787 (GRCm39) |
V156L |
possibly damaging |
Het |
| Spef1l |
A |
G |
7: 139,558,043 (GRCm39) |
I51T |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,392,039 (GRCm39) |
D1607G |
probably damaging |
Het |
| Tmem101 |
T |
A |
11: 102,046,663 (GRCm39) |
M69L |
possibly damaging |
Het |
| Treh |
G |
A |
9: 44,597,208 (GRCm39) |
M542I |
probably benign |
Het |
| Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,623,441 (GRCm39) |
I280T |
probably benign |
Het |
| Ubtfl1 |
A |
G |
9: 18,320,789 (GRCm39) |
T106A |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,123,724 (GRCm39) |
H583R |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,241 (GRCm39) |
P2161S |
probably damaging |
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 |
|
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 |
|
R9452:Mtmr3
|
UTSW |
11 |
4,441,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCCAAGAAGACTATCAACAGGGATC -3'
(R):5'- TACAGAGCTCTAGTGTTCCGC -3'
Sequencing Primer
(F):5'- GGATCAAAAGTATAACTAAGGGTCAC -3'
(R):5'- TCTGACTCTGCCACGGC -3'
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| Posted On |
2015-09-24 |
Incidental Mutation