Incidental Mutation 'R4502:Mtmr7'
| ID |
331858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr7
|
| Ensembl Gene |
ENSMUSG00000039431 |
| Gene Name |
myotubularin related protein 7 |
| Synonyms |
|
| MMRRC Submission |
041754-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4502 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41004136-41087840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41011203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 285
(E285G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048890]
[ENSMUST00000048898]
[ENSMUST00000173487]
[ENSMUST00000174205]
|
| AlphaFold |
Q9Z2C9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048890
AA Change: E449G
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431
AA Change: E449G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
4.9e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048898
AA Change: E449G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: E449G
| 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 |
possibly damaging
Transcript: ENSMUST00000173487
AA Change: E285G
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
AA Change: E285G
| 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 |
possibly damaging
Transcript: ENSMUST00000174205
AA Change: E449G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: E449G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
450 |
7.2e-145 |
PFAM |
|
| Meta Mutation Damage Score |
0.4753 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| 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 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 |
|---|
| Agtr1b |
A |
C |
3: 20,369,962 (GRCm39) |
Y215D |
probably damaging |
Het |
| Arf5 |
T |
C |
6: 28,425,775 (GRCm39) |
V123A |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
G |
9: 53,407,246 (GRCm39) |
V1164A |
possibly damaging |
Het |
| Atp6v0d1 |
A |
G |
8: 106,292,430 (GRCm39) |
C39R |
probably damaging |
Het |
| Bmp8a |
T |
A |
4: 123,236,192 (GRCm39) |
S104C |
probably damaging |
Het |
| Cand1 |
T |
C |
10: 119,052,572 (GRCm39) |
T185A |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,560 (GRCm39) |
E1284G |
probably damaging |
Het |
| Chodl |
A |
G |
16: 78,728,332 (GRCm39) |
S26G |
possibly damaging |
Het |
| Cic |
C |
T |
7: 24,987,892 (GRCm39) |
P620S |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,387,837 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
G |
T |
3: 118,591,186 (GRCm39) |
G225C |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,286,772 (GRCm39) |
V5560M |
probably damaging |
Het |
| Eea1 |
G |
A |
10: 95,875,427 (GRCm39) |
E1233K |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,245,740 (GRCm39) |
D1139G |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Hc |
T |
C |
2: 34,896,264 (GRCm39) |
D1173G |
probably benign |
Het |
| Htr2a |
T |
A |
14: 74,879,428 (GRCm39) |
M19K |
probably benign |
Het |
| Kank4 |
G |
A |
4: 98,665,335 (GRCm39) |
S653L |
possibly damaging |
Het |
| Kcnt2 |
G |
T |
1: 140,435,485 (GRCm39) |
C484F |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,282 (GRCm39) |
S158P |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,826,749 (GRCm39) |
D62G |
probably damaging |
Het |
| Ldhb |
T |
C |
6: 142,436,183 (GRCm39) |
K329E |
possibly damaging |
Het |
| Or2p2 |
A |
T |
13: 21,256,916 (GRCm39) |
I185N |
probably damaging |
Het |
| Or5k15 |
T |
C |
16: 58,710,539 (GRCm39) |
I15V |
probably benign |
Het |
| Or6aa1 |
T |
A |
7: 86,044,485 (GRCm39) |
T74S |
possibly damaging |
Het |
| Pi4kb |
T |
A |
3: 94,903,918 (GRCm39) |
H501Q |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,435,750 (GRCm39) |
K910R |
probably benign |
Het |
| Ppp1r12a |
G |
T |
10: 108,085,339 (GRCm39) |
R428I |
probably benign |
Het |
| Rbbp8nl |
G |
T |
2: 179,920,989 (GRCm39) |
T465N |
possibly damaging |
Het |
| Rpl5 |
T |
C |
5: 108,052,723 (GRCm39) |
F223S |
possibly damaging |
Het |
| Scpep1 |
T |
C |
11: 88,835,211 (GRCm39) |
K154R |
probably benign |
Het |
| Sil1 |
T |
C |
18: 35,450,928 (GRCm39) |
Y249C |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,067,964 (GRCm39) |
L1017Q |
probably damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,556,154 (GRCm39) |
N264S |
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,539,787 (GRCm39) |
M345V |
probably benign |
Het |
| Tdrd5 |
T |
A |
1: 156,128,334 (GRCm39) |
M141L |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,960,259 (GRCm39) |
C182R |
probably damaging |
Het |
| Thap4 |
T |
C |
1: 93,678,709 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,864,560 (GRCm39) |
T558A |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,991 (GRCm39) |
R973* |
probably null |
Het |
| Ulk3 |
A |
G |
9: 57,500,512 (GRCm39) |
Y307C |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,912,284 (GRCm39) |
L1001P |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 78,984,764 (GRCm39) |
T39S |
probably benign |
Het |
| Vps33b |
G |
A |
7: 79,937,655 (GRCm39) |
A468T |
possibly damaging |
Het |
| Wnt9a |
T |
C |
11: 59,219,363 (GRCm39) |
S130P |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,655,079 (GRCm39) |
E730G |
probably benign |
Het |
| Zfp689 |
C |
A |
7: 127,047,925 (GRCm39) |
V36L |
probably benign |
Het |
| Zfp938 |
A |
G |
10: 82,062,105 (GRCm39) |
S172P |
possibly 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 |
|
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 |
|
|
R5985:Mtmr7
|
UTSW |
8 |
41,004,873 (GRCm39) |
missense |
probably benign |
|
|
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'- TCTGATTCAGACAGAAATCACAGG -3'
(R):5'- GCAACTTAGATGGTGACCCAAAAG -3'
Sequencing Primer
(F):5'- AGTGACTACATGTATTTGTGAACTGG -3'
(R):5'- GATGGTGACCCAAAAGAAATCTCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation