Incidental Mutation 'R3956:Mtmr3'
ID |
310710 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr3
|
Ensembl Gene |
ENSMUSG00000034354 |
Gene Name |
myotubularin related protein 3 |
Synonyms |
FYVE-DSP1, 1700092A20Rik, ZFYVE10 |
MMRRC Submission |
040833-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3956 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
4430868-4544863 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4441138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 504
(V504E)
|
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: V505E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049079 Gene: ENSMUSG00000034354 AA Change: V505E
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: V505E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105569 Gene: ENSMUSG00000034354 AA Change: V505E
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: V504E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122422 Gene: ENSMUSG00000034354 AA Change: V504E
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: V504E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116315 Gene: ENSMUSG00000034354 AA Change: V504E
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: V505E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000137687 Gene: ENSMUSG00000034354 AA Change: V505E
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
|
Meta Mutation Damage Score |
0.8718 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
Validation Efficiency |
100% (56/56) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
Aagab |
A |
G |
9: 63,526,442 (GRCm39) |
E155G |
probably damaging |
Het |
Abca16 |
A |
G |
7: 120,126,975 (GRCm39) |
N1221S |
probably damaging |
Het |
Acad11 |
A |
G |
9: 103,963,351 (GRCm39) |
|
probably benign |
Het |
Acsl1 |
T |
A |
8: 46,987,495 (GRCm39) |
L693Q |
probably damaging |
Het |
Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
B3gat1 |
A |
G |
9: 26,668,324 (GRCm39) |
T305A |
possibly damaging |
Het |
BC051076 |
A |
G |
5: 88,112,110 (GRCm39) |
|
noncoding transcript |
Het |
Ccni |
A |
G |
5: 93,331,263 (GRCm39) |
L236S |
probably damaging |
Het |
Ccnq |
C |
A |
11: 78,641,849 (GRCm39) |
E214* |
probably null |
Het |
Cdc45 |
A |
G |
16: 18,624,180 (GRCm39) |
V119A |
probably benign |
Het |
Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
Creld1 |
A |
G |
6: 113,469,190 (GRCm39) |
D340G |
possibly damaging |
Het |
Cyrib |
T |
C |
15: 63,813,823 (GRCm39) |
Y158C |
probably damaging |
Het |
Dipk1b |
C |
T |
2: 26,525,579 (GRCm39) |
P171L |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,374,847 (GRCm39) |
I1417L |
probably benign |
Het |
Efhc1 |
A |
C |
1: 21,048,890 (GRCm39) |
K434N |
probably damaging |
Het |
Evi5l |
T |
C |
8: 4,241,358 (GRCm39) |
V297A |
possibly damaging |
Het |
Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
Gfod1 |
A |
T |
13: 43,354,538 (GRCm39) |
C146S |
probably damaging |
Het |
Greb1 |
G |
T |
12: 16,732,300 (GRCm39) |
P1554T |
probably damaging |
Het |
Grip1 |
A |
T |
10: 119,765,931 (GRCm39) |
I88F |
probably damaging |
Het |
Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,701,023 (GRCm39) |
T121A |
probably benign |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Mfsd2b |
A |
T |
12: 4,916,848 (GRCm39) |
F194Y |
probably damaging |
Het |
Neb |
C |
T |
2: 52,091,975 (GRCm39) |
V5030M |
possibly damaging |
Het |
Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
Or5ac17 |
G |
A |
16: 59,036,428 (GRCm39) |
Q183* |
probably null |
Het |
Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
Or5al5 |
C |
T |
2: 85,961,363 (GRCm39) |
V215I |
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,256,801 (GRCm39) |
S502G |
probably benign |
Het |
Prb1c |
G |
T |
6: 132,338,814 (GRCm39) |
Q135K |
unknown |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Qng1 |
A |
G |
13: 58,532,203 (GRCm39) |
S118P |
probably damaging |
Het |
Ralgapa2 |
C |
T |
2: 146,277,884 (GRCm39) |
V426I |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
Riok3 |
T |
A |
18: 12,276,031 (GRCm39) |
Y242* |
probably null |
Het |
Robo2 |
T |
G |
16: 73,758,755 (GRCm39) |
Y672S |
probably damaging |
Het |
Rsbn1 |
A |
G |
3: 103,835,991 (GRCm39) |
H343R |
probably damaging |
Het |
Sar1a |
A |
T |
10: 61,522,172 (GRCm39) |
N88I |
possibly damaging |
Het |
Sgcz |
A |
G |
8: 37,993,346 (GRCm39) |
|
probably benign |
Het |
Spmip9 |
A |
G |
6: 70,890,469 (GRCm39) |
Y108H |
possibly damaging |
Het |
Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
Tlcd5 |
C |
A |
9: 43,022,808 (GRCm39) |
C182F |
probably damaging |
Het |
Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
Top6bl |
T |
A |
19: 4,742,525 (GRCm39) |
T214S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
Umodl1 |
A |
G |
17: 31,221,837 (GRCm39) |
T1280A |
probably benign |
Het |
Xpnpep3 |
A |
G |
15: 81,335,230 (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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTTCTGCTGATCACAGAGAC -3'
(R):5'- CAGGCCCTGCAATTGGTAAC -3'
Sequencing Primer
(F):5'- CAGGCTAAAGGGTACATACGGC -3'
(R):5'- CCCTGCAATTGGTAACTGTGAAG -3'
|
Posted On |
2015-04-29 |