Incidental Mutation 'R5847:Mtmr3'
ID |
453686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr3
|
Ensembl Gene |
ENSMUSG00000034354 |
Gene Name |
myotubularin related protein 3 |
Synonyms |
FYVE-DSP1, 1700092A20Rik, ZFYVE10 |
MMRRC Submission |
044065-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5847 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
4430868-4544863 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4432925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1116
(V1116A)
|
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: V1108A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049079 Gene: ENSMUSG00000034354 AA Change: V1108A
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: V1108A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105569 Gene: ENSMUSG00000034354 AA Change: V1108A
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: V1144A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122422 Gene: ENSMUSG00000034354 AA Change: V1144A
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: V1116A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116315 Gene: ENSMUSG00000034354 AA Change: V1116A
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
|
SMART Domains |
Protein: ENSMUSP00000137687 Gene: ENSMUSG00000034354
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: ENSMUST00000155566
|
Meta Mutation Damage Score |
0.4911 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (62/62) |
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 |
Adgrg6 |
T |
A |
10: 14,302,521 (GRCm39) |
Y964F |
probably damaging |
Het |
Akap3 |
T |
A |
6: 126,842,521 (GRCm39) |
L380Q |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,473,723 (GRCm39) |
I760T |
probably benign |
Het |
Aoc1l2 |
T |
A |
6: 48,910,412 (GRCm39) |
F701L |
probably damaging |
Het |
Arhgap20 |
G |
A |
9: 51,736,276 (GRCm39) |
|
probably benign |
Het |
Cacng3 |
T |
C |
7: 122,361,532 (GRCm39) |
F113S |
possibly damaging |
Het |
Ccdc158 |
G |
T |
5: 92,775,339 (GRCm39) |
N955K |
probably benign |
Het |
Ccdc63 |
T |
A |
5: 122,254,908 (GRCm39) |
M368L |
possibly damaging |
Het |
Cnot2 |
T |
C |
10: 116,363,851 (GRCm39) |
T18A |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 76,950,820 (GRCm39) |
D550E |
possibly damaging |
Het |
Cyp2c37 |
C |
T |
19: 40,000,176 (GRCm39) |
R433W |
probably damaging |
Het |
Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
Dek |
A |
G |
13: 47,255,077 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
CAGTTGCTTAAA |
CA |
11: 65,986,066 (GRCm39) |
|
probably null |
Het |
Dock4 |
A |
G |
12: 40,671,250 (GRCm39) |
Y23C |
probably damaging |
Het |
Edar |
T |
A |
10: 58,439,001 (GRCm39) |
S344C |
probably damaging |
Het |
Epg5 |
T |
C |
18: 78,073,270 (GRCm39) |
V2431A |
probably benign |
Het |
Evc2 |
C |
T |
5: 37,562,068 (GRCm39) |
|
probably benign |
Het |
Idh3b |
A |
T |
2: 130,125,948 (GRCm39) |
D41E |
probably benign |
Het |
Igkv8-24 |
A |
T |
6: 70,193,956 (GRCm39) |
V84D |
probably damaging |
Het |
Iqca1l |
A |
T |
5: 24,749,164 (GRCm39) |
L778Q |
probably benign |
Het |
Mgam |
T |
C |
6: 40,660,989 (GRCm39) |
I1118T |
probably benign |
Het |
Myoc |
A |
G |
1: 162,466,936 (GRCm39) |
Y35C |
probably damaging |
Het |
Ncr1 |
A |
T |
7: 4,347,573 (GRCm39) |
D246V |
probably benign |
Het |
Nphp3 |
A |
G |
9: 103,880,236 (GRCm39) |
E86G |
probably damaging |
Het |
Or2l13b |
A |
T |
16: 19,349,076 (GRCm39) |
V198E |
probably damaging |
Het |
Or52e5 |
A |
T |
7: 104,719,064 (GRCm39) |
Y130F |
probably benign |
Het |
Or8h7 |
A |
C |
2: 86,720,676 (GRCm39) |
V281G |
probably damaging |
Het |
Pbld1 |
A |
T |
10: 62,912,193 (GRCm39) |
I275L |
probably benign |
Het |
Pde12 |
A |
G |
14: 26,386,786 (GRCm39) |
V574A |
possibly damaging |
Het |
Pdxk |
G |
T |
10: 78,280,872 (GRCm39) |
D189E |
probably benign |
Het |
Pkhd1 |
C |
A |
1: 20,444,960 (GRCm39) |
E2276* |
probably null |
Het |
Ppp1r10 |
A |
G |
17: 36,237,739 (GRCm39) |
N237S |
possibly damaging |
Het |
Rheb |
T |
A |
5: 25,012,067 (GRCm39) |
Y131F |
probably benign |
Het |
Rpgrip1l |
T |
C |
8: 92,031,613 (GRCm39) |
D88G |
probably damaging |
Het |
Scgb2b33 |
T |
C |
7: 32,812,239 (GRCm39) |
|
noncoding transcript |
Het |
Snx9 |
C |
A |
17: 5,974,896 (GRCm39) |
N461K |
possibly damaging |
Het |
Tbc1d2b |
C |
A |
9: 90,091,777 (GRCm39) |
V842F |
probably damaging |
Het |
Tgfbi |
G |
A |
13: 56,784,418 (GRCm39) |
E615K |
possibly damaging |
Het |
Tmem51 |
A |
G |
4: 141,759,346 (GRCm39) |
M134T |
probably damaging |
Het |
Tox4 |
A |
G |
14: 52,524,241 (GRCm39) |
D125G |
probably damaging |
Het |
Trappc3 |
A |
T |
4: 126,167,771 (GRCm39) |
N110I |
probably damaging |
Het |
Trim11 |
T |
A |
11: 58,881,419 (GRCm39) |
D437E |
probably damaging |
Het |
Ttc23l |
T |
C |
15: 10,537,682 (GRCm39) |
N196S |
probably benign |
Het |
Wnk1 |
C |
A |
6: 119,969,369 (GRCm39) |
G362V |
probably damaging |
Het |
Wwc1 |
A |
G |
11: 35,758,153 (GRCm39) |
F731S |
probably damaging |
Het |
Wwp1 |
A |
T |
4: 19,662,174 (GRCm39) |
D140E |
possibly damaging |
Het |
Zfp24 |
G |
A |
18: 24,151,095 (GRCm39) |
P17L |
possibly damaging |
Het |
Zfp354b |
T |
C |
11: 50,814,043 (GRCm39) |
E294G |
probably damaging |
Het |
Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
Zfp868 |
T |
C |
8: 70,064,303 (GRCm39) |
H344R |
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 |
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 |
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'- TTAAAGGAACAGCAGCATGGCC -3'
(R):5'- GCCACATGTCATCCTTGGTG -3'
Sequencing Primer
(F):5'- AGCAGCATGGCCTCTGC -3'
(R):5'- ATGACTGCACTGGGTAGACTTATC -3'
|
Posted On |
2017-02-10 |