Incidental Mutation 'R5985:Mtmr7'
| ID |
481608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr7
|
| Ensembl Gene |
ENSMUSG00000039431 |
| Gene Name |
myotubularin related protein 7 |
| Synonyms |
|
| MMRRC Submission |
044165-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41004873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 568
(F568L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048890]
[ENSMUST00000048898]
[ENSMUST00000098817]
[ENSMUST00000173487]
[ENSMUST00000174205]
|
| AlphaFold |
Q9Z2C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048890
|
| SMART Domains |
Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
4.9e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048898
AA Change: F568L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: F568L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
109 |
448 |
1.6e-143 |
PFAM |
|
coiled coil region
|
514 |
553 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098817
|
| SMART Domains |
Protein: ENSMUSP00000096415
Gene: ENSMUSG00000031600
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
Blast:UBCc
|
29 |
128 |
6e-6 |
BLAST |
|
low complexity region
|
155 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
|
Pfam:Mod_r
|
235 |
380 |
2.7e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173487
|
| SMART Domains |
Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
1 |
286 |
8.1e-125 |
PFAM |
|
coiled coil region
|
350 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174205
|
| SMART Domains |
Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
| Meta Mutation Damage Score |
0.0582 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
96% (47/49) |
| 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 family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,241,628 (GRCm39) |
I1164L |
probably benign |
Het |
| Actn1 |
C |
A |
12: 80,215,169 (GRCm39) |
G864V |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,604,146 (GRCm39) |
I34T |
probably benign |
Het |
| Ankrd10 |
T |
A |
8: 11,669,077 (GRCm39) |
K225* |
probably null |
Het |
| Ankrd29 |
G |
A |
18: 12,412,832 (GRCm39) |
A115V |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,304,667 (GRCm39) |
T1175A |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,621,798 (GRCm39) |
D781G |
probably damaging |
Het |
| B4galnt3 |
G |
A |
6: 120,187,119 (GRCm39) |
P759S |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,675,411 (GRCm39) |
I448V |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,284,507 (GRCm39) |
F821L |
probably damaging |
Het |
| Cpeb3 |
T |
C |
19: 37,064,952 (GRCm39) |
Y498C |
probably damaging |
Het |
| Defb37 |
A |
T |
8: 19,036,347 (GRCm39) |
C58S |
probably damaging |
Het |
| Faap20 |
T |
C |
4: 155,334,797 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
C |
T |
4: 82,884,287 (GRCm39) |
V1204I |
probably benign |
Het |
| Gal3st2 |
T |
C |
1: 93,801,335 (GRCm39) |
V46A |
possibly damaging |
Het |
| Gan |
C |
T |
8: 117,922,557 (GRCm39) |
S430L |
possibly damaging |
Het |
| Gas2 |
T |
A |
7: 51,593,424 (GRCm39) |
I168K |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
| Gm3898 |
G |
A |
9: 43,741,329 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
C |
9: 4,503,593 (GRCm39) |
Q341R |
probably damaging |
Het |
| Herpud1 |
G |
A |
8: 95,117,422 (GRCm39) |
R2Q |
probably damaging |
Het |
| Klf15 |
G |
A |
6: 90,443,703 (GRCm39) |
G93R |
possibly damaging |
Het |
| Myod1 |
A |
G |
7: 46,027,222 (GRCm39) |
Y229C |
probably damaging |
Het |
| Or12e14 |
A |
G |
2: 87,187,949 (GRCm39) |
I54V |
probably benign |
Het |
| Or5l13 |
A |
G |
2: 87,779,665 (GRCm39) |
M304T |
probably benign |
Het |
| Phf11b |
A |
G |
14: 59,559,027 (GRCm39) |
L235P |
possibly damaging |
Het |
| Pira1 |
C |
A |
7: 3,740,316 (GRCm39) |
G302C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Prox1 |
A |
T |
1: 189,879,152 (GRCm39) |
F675L |
possibly damaging |
Het |
| Rnf144a |
C |
T |
12: 26,367,779 (GRCm39) |
E176K |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,870,181 (GRCm39) |
E965G |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,122,973 (GRCm39) |
N874S |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,958,233 (GRCm39) |
I180V |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,383,328 (GRCm39) |
V1141A |
possibly damaging |
Het |
| Spns1 |
G |
A |
7: 125,975,902 (GRCm39) |
T84I |
probably benign |
Het |
| Syne2 |
C |
G |
12: 76,012,933 (GRCm39) |
P2709R |
probably damaging |
Het |
| Terb1 |
A |
T |
8: 105,178,439 (GRCm39) |
S662T |
probably benign |
Het |
| Terb1 |
A |
G |
8: 105,208,948 (GRCm39) |
S377P |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,303,205 (GRCm39) |
Y258H |
probably damaging |
Het |
| Trip12 |
T |
A |
1: 84,703,492 (GRCm39) |
E1881D |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,958,358 (GRCm39) |
L412P |
probably damaging |
Het |
| Ttll13 |
C |
T |
7: 79,904,386 (GRCm39) |
A337V |
probably damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,067,527 (GRCm39) |
K344E |
possibly damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,855 (GRCm39) |
I7F |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,082 (GRCm39) |
N303K |
possibly damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,800,587 (GRCm39) |
V585A |
probably benign |
Het |
| Zan |
A |
C |
5: 137,444,299 (GRCm39) |
|
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,508,774 (GRCm39) |
N502K |
possibly damaging |
Het |
| Zfp473 |
C |
T |
7: 44,382,752 (GRCm39) |
R526Q |
probably damaging |
Het |
|
| Other mutations in Mtmr7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Mtmr7
|
APN |
8 |
41,050,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01340:Mtmr7
|
APN |
8 |
41,050,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01773:Mtmr7
|
APN |
8 |
41,034,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Mtmr7
|
APN |
8 |
41,013,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02195:Mtmr7
|
APN |
8 |
41,013,946 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03394:Mtmr7
|
APN |
8 |
41,061,972 (GRCm39) |
missense |
probably damaging |
0.97 |
|
BB001:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
BB003:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
BB011:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
BB013:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0116:Mtmr7
|
UTSW |
8 |
41,034,447 (GRCm39) |
splice site |
probably benign |
|
|
R0379:Mtmr7
|
UTSW |
8 |
41,004,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Mtmr7
|
UTSW |
8 |
41,013,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Mtmr7
|
UTSW |
8 |
41,004,852 (GRCm39) |
missense |
probably benign |
|
|
R4372:Mtmr7
|
UTSW |
8 |
41,007,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4482:Mtmr7
|
UTSW |
8 |
41,007,425 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4502:Mtmr7
|
UTSW |
8 |
41,011,203 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4622:Mtmr7
|
UTSW |
8 |
41,034,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Mtmr7
|
UTSW |
8 |
41,043,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Mtmr7
|
UTSW |
8 |
41,062,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4991:Mtmr7
|
UTSW |
8 |
41,007,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5424:Mtmr7
|
UTSW |
8 |
41,059,873 (GRCm39) |
missense |
probably benign |
|
|
R5707:Mtmr7
|
UTSW |
8 |
41,011,203 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5929:Mtmr7
|
UTSW |
8 |
41,011,399 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6013:Mtmr7
|
UTSW |
8 |
41,034,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Mtmr7
|
UTSW |
8 |
41,034,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7052:Mtmr7
|
UTSW |
8 |
41,008,874 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7249:Mtmr7
|
UTSW |
8 |
41,043,520 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7538:Mtmr7
|
UTSW |
8 |
41,050,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7699:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7699:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7700:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7708:Mtmr7
|
UTSW |
8 |
41,043,554 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7890:Mtmr7
|
UTSW |
8 |
41,004,776 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7924:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7926:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8059:Mtmr7
|
UTSW |
8 |
41,034,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8446:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8493:Mtmr7
|
UTSW |
8 |
41,059,927 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9009:Mtmr7
|
UTSW |
8 |
41,008,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9527:Mtmr7
|
UTSW |
8 |
41,011,345 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1177:Mtmr7
|
UTSW |
8 |
41,050,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAGATCGACAGCTCAAATC -3'
(R):5'- TTCAACTGCCACAAGAGTCTTG -3'
Sequencing Primer
(F):5'- TCCACCCCAGACTCTTGATCAC -3'
(R):5'- AAGAGTCTTGTCCTTAATGTTACCC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation