Incidental Mutation 'IGL01994:Mtmr3'
ID |
183600 |
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 |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01994
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
4430868-4544863 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 4437938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 839
(H839N)
|
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 benign
Transcript: ENSMUST00000040448
AA Change: H839N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000049079 Gene: ENSMUSG00000034354 AA Change: H839N
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 benign
Transcript: ENSMUST00000109943
AA Change: H839N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105569 Gene: ENSMUSG00000034354 AA Change: H839N
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 benign
Transcript: ENSMUST00000123506
AA Change: H838N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122422 Gene: ENSMUSG00000034354 AA Change: H838N
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 benign
Transcript: ENSMUST00000128256
AA Change: H838N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116315 Gene: ENSMUSG00000034354 AA Change: H838N
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 benign
Transcript: ENSMUST00000130716
AA Change: H839N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137687 Gene: ENSMUSG00000034354 AA Change: H839N
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155566
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
A |
T |
13: 12,305,563 (GRCm39) |
Y418N |
probably benign |
Het |
Adam15 |
T |
C |
3: 89,248,812 (GRCm39) |
|
probably benign |
Het |
Adam32 |
C |
A |
8: 25,392,812 (GRCm39) |
|
probably benign |
Het |
Adamts12 |
T |
A |
15: 11,345,680 (GRCm39) |
C1574S |
probably damaging |
Het |
Adck1 |
T |
C |
12: 88,397,926 (GRCm39) |
S187P |
possibly damaging |
Het |
Atp13a3 |
A |
G |
16: 30,156,336 (GRCm39) |
V949A |
possibly damaging |
Het |
Atxn3 |
T |
C |
12: 101,908,439 (GRCm39) |
T138A |
probably benign |
Het |
Atxn7l2 |
C |
T |
3: 108,110,859 (GRCm39) |
R559Q |
probably damaging |
Het |
Bicra |
G |
T |
7: 15,706,741 (GRCm39) |
S1233R |
possibly damaging |
Het |
Cacybp |
G |
T |
1: 160,034,206 (GRCm39) |
N101K |
probably damaging |
Het |
Cops7b |
T |
C |
1: 86,528,828 (GRCm39) |
L185P |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,420,814 (GRCm39) |
D899G |
possibly damaging |
Het |
Cyp4f37 |
C |
T |
17: 32,844,150 (GRCm39) |
R85* |
probably null |
Het |
Dnah3 |
T |
G |
7: 119,550,437 (GRCm39) |
N3294T |
possibly damaging |
Het |
Elmo1 |
T |
A |
13: 20,526,634 (GRCm39) |
Y395N |
probably damaging |
Het |
Fam234b |
T |
A |
6: 135,202,203 (GRCm39) |
Y308* |
probably null |
Het |
Fam43a |
A |
G |
16: 30,419,481 (GRCm39) |
K22E |
probably damaging |
Het |
Fcer2a |
T |
C |
8: 3,738,302 (GRCm39) |
N123D |
possibly damaging |
Het |
Gm11595 |
A |
G |
11: 99,663,027 (GRCm39) |
C218R |
unknown |
Het |
Gria4 |
T |
C |
9: 4,537,726 (GRCm39) |
Y194C |
probably damaging |
Het |
Grin2d |
T |
C |
7: 45,507,396 (GRCm39) |
E435G |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,844,725 (GRCm39) |
E506G |
probably damaging |
Het |
Htt |
G |
A |
5: 34,989,948 (GRCm39) |
S1160N |
possibly damaging |
Het |
Ift140 |
A |
G |
17: 25,267,417 (GRCm39) |
E605G |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,445,411 (GRCm39) |
V374A |
probably benign |
Het |
Ippk |
A |
G |
13: 49,612,093 (GRCm39) |
Q439R |
possibly damaging |
Het |
Itgam |
G |
A |
7: 127,700,899 (GRCm39) |
V530M |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,931,429 (GRCm39) |
H47R |
possibly damaging |
Het |
Klk1b24 |
A |
T |
7: 43,841,057 (GRCm39) |
I162F |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,059,434 (GRCm39) |
T606S |
probably benign |
Het |
Lama2 |
C |
T |
10: 27,343,199 (GRCm39) |
|
probably null |
Het |
Lrp2 |
A |
G |
2: 69,313,945 (GRCm39) |
I2262T |
probably benign |
Het |
Mamdc4 |
A |
T |
2: 25,458,546 (GRCm39) |
I317N |
possibly damaging |
Het |
Ncr1 |
G |
T |
7: 4,344,253 (GRCm39) |
V177F |
probably benign |
Het |
Nop58 |
T |
C |
1: 59,743,242 (GRCm39) |
S219P |
probably damaging |
Het |
Nrg3 |
T |
C |
14: 38,734,043 (GRCm39) |
Y281C |
probably damaging |
Het |
Nsf |
A |
G |
11: 103,819,608 (GRCm39) |
S54P |
probably damaging |
Het |
Or56b6 |
A |
T |
7: 104,925,153 (GRCm39) |
|
noncoding transcript |
Het |
Or6k8-ps1 |
T |
A |
1: 173,979,102 (GRCm39) |
S7T |
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,685,801 (GRCm39) |
K730R |
probably damaging |
Het |
Polr2g |
A |
T |
19: 8,771,740 (GRCm39) |
|
probably benign |
Het |
Rps13 |
A |
G |
7: 115,932,925 (GRCm39) |
|
probably benign |
Het |
Scgb2b7 |
A |
G |
7: 31,403,409 (GRCm39) |
I99T |
probably benign |
Het |
Slc22a27 |
G |
T |
19: 7,887,108 (GRCm39) |
H260Q |
possibly damaging |
Het |
Spata18 |
G |
T |
5: 73,814,944 (GRCm39) |
|
probably null |
Het |
Tns2 |
A |
G |
15: 102,019,814 (GRCm39) |
E560G |
possibly damaging |
Het |
Trbv16 |
T |
C |
6: 41,128,715 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,851,520 (GRCm39) |
I1829N |
probably damaging |
Het |
Vcl |
C |
T |
14: 21,053,311 (GRCm39) |
T442I |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,880,731 (GRCm39) |
I24N |
probably benign |
Het |
Vmn2r114 |
T |
C |
17: 23,529,451 (GRCm39) |
D217G |
probably damaging |
Het |
Vmn2r58 |
A |
G |
7: 41,486,394 (GRCm39) |
Y834H |
probably damaging |
Het |
Zdhhc8 |
G |
T |
16: 18,045,636 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2014-05-07 |