Incidental Mutation 'R6102:Mtmr3'
ID |
485322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr3
|
Ensembl Gene |
ENSMUSG00000034354 |
Gene Name |
myotubularin related protein 3 |
Synonyms |
FYVE-DSP1, 1700092A20Rik, ZFYVE10 |
MMRRC Submission |
044252-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6102 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
4430868-4544863 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4437673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 927
(N927S)
|
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 damaging
Transcript: ENSMUST00000040448
AA Change: N927S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000049079 Gene: ENSMUSG00000034354 AA Change: N927S
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: N927S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105569 Gene: ENSMUSG00000034354 AA Change: N927S
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: N926S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122422 Gene: ENSMUSG00000034354 AA Change: N926S
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: N926S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116315 Gene: ENSMUSG00000034354 AA Change: N926S
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: N927S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137687 Gene: ENSMUSG00000034354 AA Change: N927S
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 |
0.1385 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (65/67) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12e |
A |
G |
11: 70,210,849 (GRCm39) |
I290T |
possibly damaging |
Het |
Apeh |
T |
A |
9: 107,963,638 (GRCm39) |
D559V |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,405,197 (GRCm39) |
Y1361* |
probably null |
Het |
Atad5 |
G |
T |
11: 80,002,398 (GRCm39) |
|
probably null |
Het |
Ccr4 |
C |
T |
9: 114,325,561 (GRCm39) |
|
probably null |
Het |
Clasrp |
G |
A |
7: 19,320,393 (GRCm39) |
|
probably benign |
Het |
Cldn23 |
A |
G |
8: 36,292,705 (GRCm39) |
M261T |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,230,739 (GRCm39) |
M1450V |
probably benign |
Het |
Cyp4v3 |
T |
A |
8: 45,773,197 (GRCm39) |
E202V |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,598,299 (GRCm39) |
V1412E |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,881,342 (GRCm39) |
S2578P |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,180,165 (GRCm39) |
Y196F |
probably benign |
Het |
Exoc1 |
T |
C |
5: 76,685,626 (GRCm39) |
S113P |
probably damaging |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Frs3 |
C |
T |
17: 48,013,596 (GRCm39) |
H173Y |
probably damaging |
Het |
Ginm1 |
G |
T |
10: 7,644,260 (GRCm39) |
T323K |
probably benign |
Het |
Golgb1 |
T |
C |
16: 36,733,227 (GRCm39) |
S825P |
probably damaging |
Het |
Hs3st3b1 |
A |
T |
11: 63,812,681 (GRCm39) |
C11* |
probably null |
Het |
Ighv3-3 |
G |
C |
12: 114,160,080 (GRCm39) |
A110G |
possibly damaging |
Het |
Igkv6-20 |
G |
A |
6: 70,312,853 (GRCm39) |
H107Y |
probably benign |
Het |
Kcnj16 |
A |
G |
11: 110,916,403 (GRCm39) |
E355G |
probably benign |
Het |
Lig4 |
C |
T |
8: 10,022,872 (GRCm39) |
G303S |
probably damaging |
Het |
Map1b |
A |
C |
13: 99,562,381 (GRCm39) |
V2443G |
unknown |
Het |
Map3k6 |
T |
C |
4: 132,974,442 (GRCm39) |
|
probably null |
Het |
Mmp13 |
A |
G |
9: 7,276,688 (GRCm39) |
Q261R |
probably benign |
Het |
Mphosph9 |
T |
A |
5: 124,435,772 (GRCm39) |
I554F |
possibly damaging |
Het |
Mrgpra3 |
A |
T |
7: 47,239,897 (GRCm39) |
F10I |
possibly damaging |
Het |
Ms4a18 |
G |
A |
19: 10,990,887 (GRCm39) |
T69I |
probably benign |
Het |
Necab1 |
T |
A |
4: 14,989,211 (GRCm39) |
Q188L |
probably benign |
Het |
Nfatc2 |
A |
G |
2: 168,361,427 (GRCm39) |
|
probably benign |
Het |
Or5i1 |
T |
C |
2: 87,613,192 (GRCm39) |
F103L |
probably damaging |
Het |
Or5p70 |
T |
C |
7: 107,994,491 (GRCm39) |
S55P |
probably damaging |
Het |
Or7g34 |
T |
C |
9: 19,478,318 (GRCm39) |
M121V |
possibly damaging |
Het |
Paip2b |
A |
C |
6: 83,785,828 (GRCm39) |
V134G |
possibly damaging |
Het |
Pax3 |
T |
C |
1: 78,108,984 (GRCm39) |
T225A |
probably damaging |
Het |
Pbx1 |
C |
A |
1: 168,011,134 (GRCm39) |
A298S |
probably benign |
Het |
Pcdhac2 |
A |
T |
18: 37,279,335 (GRCm39) |
K772* |
probably null |
Het |
Pcsk4 |
A |
T |
10: 80,161,651 (GRCm39) |
Y163* |
probably null |
Het |
Plcd3 |
A |
G |
11: 102,971,470 (GRCm39) |
V58A |
probably damaging |
Het |
Plek2 |
T |
A |
12: 78,946,867 (GRCm39) |
T57S |
possibly damaging |
Het |
Plscr2 |
C |
T |
9: 92,169,721 (GRCm39) |
T57I |
probably benign |
Het |
Ppp2r5b |
A |
G |
19: 6,284,768 (GRCm39) |
S32P |
probably benign |
Het |
Ppp3r2 |
C |
T |
4: 49,682,022 (GRCm39) |
|
probably benign |
Het |
Psme4 |
T |
A |
11: 30,815,567 (GRCm39) |
L1693H |
probably damaging |
Het |
Rrbp1 |
T |
A |
2: 143,830,313 (GRCm39) |
Q618L |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Serpina3b |
A |
T |
12: 104,100,428 (GRCm39) |
T337S |
probably benign |
Het |
Slc18a2 |
T |
C |
19: 59,282,310 (GRCm39) |
Y506H |
probably benign |
Het |
Slc9a9 |
A |
G |
9: 94,818,482 (GRCm39) |
Y292C |
probably benign |
Het |
Spta1 |
T |
C |
1: 174,052,086 (GRCm39) |
V1840A |
probably benign |
Het |
Ssb |
T |
C |
2: 69,701,552 (GRCm39) |
*416Q |
probably null |
Het |
Strada |
A |
G |
11: 106,059,262 (GRCm39) |
V209A |
probably benign |
Het |
Tbc1d31 |
A |
T |
15: 57,799,489 (GRCm39) |
D225V |
probably damaging |
Het |
Tgm4 |
T |
C |
9: 122,885,600 (GRCm39) |
F381L |
probably benign |
Het |
Tmem120b |
T |
A |
5: 123,253,207 (GRCm39) |
Y203N |
probably damaging |
Het |
Tmem176b |
A |
G |
6: 48,812,868 (GRCm39) |
V109A |
probably benign |
Het |
Tnfrsf11a |
C |
A |
1: 105,747,671 (GRCm39) |
L201M |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,804,694 (GRCm39) |
|
probably null |
Het |
Tubb2a |
T |
C |
13: 34,259,326 (GRCm39) |
I155V |
probably benign |
Het |
Vmn1r5 |
A |
G |
6: 56,963,099 (GRCm39) |
D258G |
probably damaging |
Het |
Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
Vmn2r19 |
A |
T |
6: 123,306,907 (GRCm39) |
I472F |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,375,361 (GRCm39) |
|
probably null |
Het |
Zfp273 |
A |
G |
13: 67,970,466 (GRCm39) |
Y5C |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp825 |
A |
G |
13: 74,628,772 (GRCm39) |
L248P |
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 |
R5847:Mtmr3
|
UTSW |
11 |
4,432,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R5933:Mtmr3
|
UTSW |
11 |
4,448,951 (GRCm39) |
missense |
probably benign |
|
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'- TCCTCGAGTACAAGTGAGCAGAG -3'
(R):5'- AAAGTCAGAAAGTGGGCCCC -3'
Sequencing Primer
(F):5'- TACAAGTGAGCAGAGCTACAGC -3'
(R):5'- CCCAGCAAGCAGTGGTAGATTC -3'
|
Posted On |
2017-08-16 |