Incidental Mutation 'R0655:Mtmr3'
| ID |
62505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr3
|
| Ensembl Gene |
ENSMUSG00000034354 |
| Gene Name |
myotubularin related protein 3 |
| Synonyms |
FYVE-DSP1, 1700092A20Rik, ZFYVE10 |
| MMRRC Submission |
038840-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0655 (G1)
|
| Quality Score |
91 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4430868-4544863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4438610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 615
(D615Y)
|
| 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: D615Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: D615Y
| 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: D615Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: D615Y
| 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: D614Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: D614Y
| 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: D614Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: D614Y
| 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: D615Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: D615Y
| 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 |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
C |
17: 36,268,737 (GRCm39) |
I757M |
probably benign |
Het |
| Abtb3 |
A |
G |
10: 85,481,390 (GRCm39) |
T931A |
probably damaging |
Het |
| Atg16l1 |
T |
A |
1: 87,694,551 (GRCm39) |
I76N |
probably damaging |
Het |
| Baz1b |
T |
A |
5: 135,271,284 (GRCm39) |
I1289N |
probably benign |
Het |
| Bcl2l15 |
T |
A |
3: 103,740,285 (GRCm39) |
|
probably null |
Het |
| Cbl |
G |
T |
9: 44,070,049 (GRCm39) |
T566K |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,919,482 (GRCm39) |
K180E |
probably benign |
Het |
| Cpxm2 |
G |
A |
7: 131,656,549 (GRCm39) |
T571I |
possibly damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,736,046 (GRCm39) |
Y485F |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,871 (GRCm39) |
Y350N |
possibly damaging |
Het |
| Dstn |
T |
A |
2: 143,780,342 (GRCm39) |
I14N |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,831,460 (GRCm39) |
S184G |
probably benign |
Het |
| Eif1a |
G |
T |
18: 46,741,130 (GRCm39) |
G122C |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 139,990,799 (GRCm39) |
T562S |
probably benign |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,161,673 (GRCm39) |
N30S |
probably damaging |
Het |
| Gria2 |
C |
A |
3: 80,639,377 (GRCm39) |
E212* |
probably null |
Het |
| Gsdmc2 |
C |
T |
15: 63,699,622 (GRCm39) |
A269T |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,109,350 (GRCm39) |
V195A |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,321,061 (GRCm39) |
S2123P |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,160,519 (GRCm39) |
E519G |
probably benign |
Het |
| Htr2b |
A |
G |
1: 86,038,565 (GRCm39) |
S14P |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,047 (GRCm39) |
V61A |
probably damaging |
Het |
| Ifitm1 |
C |
A |
7: 140,549,449 (GRCm39) |
F77L |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,346 (GRCm39) |
S118P |
probably benign |
Het |
| Mtss1 |
C |
A |
15: 58,953,351 (GRCm39) |
C9F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,948,928 (GRCm39) |
S167P |
possibly damaging |
Het |
| Or1e34 |
T |
C |
11: 73,778,631 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,632 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or8b54 |
C |
T |
9: 38,686,850 (GRCm39) |
Q100* |
probably null |
Het |
| Oscp1 |
T |
C |
4: 125,952,526 (GRCm39) |
L18P |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,537,462 (GRCm39) |
S297P |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,323,797 (GRCm39) |
D476V |
probably benign |
Het |
| Phlpp2 |
A |
T |
8: 110,622,219 (GRCm39) |
I154L |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,846 (GRCm39) |
V449E |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,416,341 (GRCm39) |
S519P |
probably benign |
Het |
| Rnf138 |
T |
G |
18: 21,143,840 (GRCm39) |
V128G |
probably benign |
Het |
| Safb |
T |
A |
17: 56,904,803 (GRCm39) |
S209T |
probably benign |
Het |
| Sbno1 |
C |
A |
5: 124,514,212 (GRCm39) |
V1327L |
possibly damaging |
Het |
| Scarb1 |
A |
G |
5: 125,377,504 (GRCm39) |
V176A |
probably damaging |
Het |
| Scd4 |
A |
G |
19: 44,327,407 (GRCm39) |
H161R |
possibly damaging |
Het |
| Selenoo |
T |
A |
15: 88,979,858 (GRCm39) |
H335Q |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,894,647 (GRCm39) |
F664S |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,626,217 (GRCm39) |
I1116M |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,901,690 (GRCm39) |
R835W |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,006,899 (GRCm39) |
E921G |
probably damaging |
Het |
| Tectb |
G |
A |
19: 55,178,302 (GRCm39) |
G234S |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,776,540 (GRCm39) |
M606I |
probably damaging |
Het |
| Tmed10 |
T |
A |
12: 85,390,291 (GRCm39) |
I88F |
probably damaging |
Het |
| Tnfrsf11a |
G |
A |
1: 105,735,880 (GRCm39) |
V31I |
unknown |
Het |
| Trp53inp2 |
G |
T |
2: 155,228,088 (GRCm39) |
G98* |
probably null |
Het |
| Tssc4 |
A |
G |
7: 142,623,782 (GRCm39) |
D30G |
probably damaging |
Het |
| Uaca |
T |
C |
9: 60,779,311 (GRCm39) |
Y1233H |
probably benign |
Het |
| Unc13c |
G |
A |
9: 73,838,235 (GRCm39) |
T872I |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,542,940 (GRCm39) |
H398R |
probably damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,207 (GRCm39) |
T112I |
probably benign |
Het |
| Vmn1r85 |
A |
G |
7: 12,818,650 (GRCm39) |
Y165H |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,319 (GRCm39) |
C748* |
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,102,233 (GRCm39) |
W929R |
probably damaging |
Het |
| Yeats2 |
A |
T |
16: 20,012,574 (GRCm39) |
K591* |
probably null |
Het |
| Zbtb9 |
T |
A |
17: 27,193,074 (GRCm39) |
S160T |
probably damaging |
Het |
| Znfx1 |
T |
A |
2: 166,898,827 (GRCm39) |
R32S |
probably damaging |
Het |
| Zng1 |
T |
C |
19: 24,930,684 (GRCm39) |
M122V |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGTGGCCTCTTGCAAAATGTTC -3'
(R):5'- GGTGTAGACCATTTCGAGGGATGC -3'
Sequencing Primer
(F):5'- GGCTGCCACAGAAAGCTC -3'
(R):5'- gccccagttttgcataacc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation