Incidental Mutation 'R5744:Mtmr3'
| ID |
445725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr3
|
| Ensembl Gene |
ENSMUSG00000034354 |
| Gene Name |
myotubularin related protein 3 |
| Synonyms |
FYVE-DSP1, 1700092A20Rik, ZFYVE10 |
| MMRRC Submission |
043197-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5744 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4430868-4544863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4437679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 925
(V925A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000040448
AA Change: V925A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: V925A
| 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 |
possibly damaging
Transcript: ENSMUST00000109943
AA Change: V925A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: V925A
| 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 |
possibly damaging
Transcript: ENSMUST00000123506
AA Change: V924A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: V924A
| 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 |
possibly damaging
Transcript: ENSMUST00000128256
AA Change: V924A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: V924A
| 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 |
possibly damaging
Transcript: ENSMUST00000130716
AA Change: V925A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: V925A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart2 |
A |
G |
12: 55,612,131 (GRCm39) |
I19V |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,586,977 (GRCm39) |
I943T |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,981,890 (GRCm39) |
V1640A |
probably benign |
Het |
| Cep250 |
T |
C |
2: 155,823,394 (GRCm39) |
F1015S |
possibly damaging |
Het |
| Cgnl1 |
G |
T |
9: 71,537,957 (GRCm39) |
|
probably null |
Het |
| Csgalnact2 |
C |
T |
6: 118,103,197 (GRCm39) |
G255E |
probably damaging |
Het |
| Ctla2a |
C |
T |
13: 61,083,767 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
T |
13: 9,618,441 (GRCm39) |
I497F |
probably damaging |
Het |
| Eif3f |
C |
A |
7: 108,537,624 (GRCm39) |
T179K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,563,380 (GRCm39) |
F376L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,102,991 (GRCm39) |
F590Y |
probably damaging |
Het |
| Gemin5 |
C |
A |
11: 58,046,009 (GRCm39) |
C433F |
possibly damaging |
Het |
| Gm7694 |
C |
T |
1: 170,130,075 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
G |
A |
2: 21,373,331 (GRCm39) |
G89R |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,415,475 (GRCm39) |
P4817S |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,375,852 (GRCm39) |
L9P |
possibly damaging |
Het |
| Igdcc3 |
TGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGC |
9: 65,048,770 (GRCm39) |
|
probably benign |
Het |
| Il1rap |
A |
C |
16: 26,498,974 (GRCm39) |
I158L |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,277,649 (GRCm39) |
S640P |
probably damaging |
Het |
| Metrn |
A |
G |
17: 26,014,211 (GRCm39) |
V205A |
probably damaging |
Het |
| Mfhas1 |
C |
A |
8: 36,056,636 (GRCm39) |
D370E |
probably damaging |
Het |
| Mn1 |
T |
C |
5: 111,568,402 (GRCm39) |
S791P |
possibly damaging |
Het |
| Neil1 |
T |
C |
9: 57,051,485 (GRCm39) |
T278A |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,815,802 (GRCm39) |
N619D |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,900,308 (GRCm39) |
L879P |
probably damaging |
Het |
| Or2l5 |
A |
G |
16: 19,334,086 (GRCm39) |
I100T |
probably benign |
Het |
| Or7a37 |
T |
C |
10: 78,806,017 (GRCm39) |
F178S |
probably damaging |
Het |
| Or9k2 |
T |
C |
10: 129,998,661 (GRCm39) |
D178G |
possibly damaging |
Het |
| Plxna1 |
C |
T |
6: 89,311,664 (GRCm39) |
R947Q |
possibly damaging |
Het |
| Prdm16 |
A |
G |
4: 154,613,161 (GRCm39) |
S89P |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,311,081 (GRCm39) |
S277R |
probably null |
Het |
| Sel1l |
A |
T |
12: 91,776,754 (GRCm39) |
I746N |
possibly damaging |
Het |
| Slc2a8 |
C |
T |
2: 32,866,040 (GRCm39) |
D291N |
probably benign |
Het |
| Slc7a5 |
T |
C |
8: 122,615,121 (GRCm39) |
N242S |
probably benign |
Het |
| Smco3 |
T |
C |
6: 136,808,763 (GRCm39) |
N37S |
probably damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,280,990 (GRCm39) |
K38* |
probably null |
Het |
| Tfap2b |
T |
C |
1: 19,289,445 (GRCm39) |
M190T |
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,778,523 (GRCm39) |
Y623* |
probably null |
Het |
| Tomm70a |
G |
T |
16: 56,942,202 (GRCm39) |
|
probably benign |
Het |
| Ttyh2 |
T |
C |
11: 114,593,136 (GRCm39) |
|
probably null |
Het |
| Zbtb10 |
A |
G |
3: 9,329,623 (GRCm39) |
Y327C |
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 |
|
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'- CCTCGAGTACAAGTGAGCAGAG -3'
(R):5'- AAAGTCAGAAAGTGGGCCCC -3'
Sequencing Primer
(F):5'- TACAAGTGAGCAGAGCTACAGC -3'
(R):5'- TTGCCCAGCAAGCAGTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation