Incidental Mutation 'IGL02448:Mtmr10'
ID |
293604 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mtmr10
|
Ensembl Gene |
ENSMUSG00000030522 |
Gene Name |
myotubularin related protein 10 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.217)
|
Stock # |
IGL02448
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
63937418-63990554 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63957898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 166
(Y166F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032736]
[ENSMUST00000206452]
|
AlphaFold |
Q7TPM9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032736
AA Change: Y166F
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000032736 Gene: ENSMUSG00000030522 AA Change: Y166F
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
176 |
330 |
8.6e-12 |
PFAM |
Pfam:Myotub-related
|
319 |
508 |
2.7e-56 |
PFAM |
Pfam:3-PAP
|
570 |
701 |
2.2e-57 |
PFAM |
low complexity region
|
730 |
737 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206452
AA Change: Y166F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206680
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206732
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl6 |
T |
A |
9: 20,786,866 (GRCm39) |
I286F |
probably damaging |
Het |
Arhgap5 |
A |
G |
12: 52,609,123 (GRCm39) |
E1366G |
probably damaging |
Het |
Blzf1 |
T |
A |
1: 164,123,350 (GRCm39) |
I326F |
possibly damaging |
Het |
Cc2d2a |
A |
C |
5: 43,840,547 (GRCm39) |
|
probably benign |
Het |
Cdc37 |
T |
C |
9: 21,051,147 (GRCm39) |
E366G |
possibly damaging |
Het |
Cdh17 |
T |
C |
4: 11,784,680 (GRCm39) |
S279P |
probably benign |
Het |
Cdh18 |
T |
C |
15: 23,173,875 (GRCm39) |
S30P |
probably benign |
Het |
Cep192 |
A |
G |
18: 68,002,518 (GRCm39) |
T2238A |
probably benign |
Het |
Cpped1 |
C |
T |
16: 11,623,253 (GRCm39) |
E289K |
probably benign |
Het |
Ctsq |
A |
T |
13: 61,184,044 (GRCm39) |
Y293N |
probably damaging |
Het |
Epb41l2 |
A |
G |
10: 25,369,493 (GRCm39) |
N20S |
possibly damaging |
Het |
Gcc2 |
T |
A |
10: 58,128,393 (GRCm39) |
C1304* |
probably null |
Het |
Hsd3b5 |
C |
T |
3: 98,529,447 (GRCm39) |
G61E |
probably damaging |
Het |
Igfals |
A |
T |
17: 25,099,161 (GRCm39) |
N84I |
probably damaging |
Het |
Irs2 |
A |
T |
8: 11,057,862 (GRCm39) |
V190D |
probably benign |
Het |
Kank1 |
T |
A |
19: 25,388,739 (GRCm39) |
L804Q |
probably damaging |
Het |
Kcnj2 |
G |
T |
11: 110,963,108 (GRCm39) |
V167L |
probably benign |
Het |
Kif20a |
T |
C |
18: 34,761,507 (GRCm39) |
V300A |
possibly damaging |
Het |
Kmt2d |
T |
C |
15: 98,741,991 (GRCm39) |
|
probably benign |
Het |
Moxd1 |
T |
C |
10: 24,158,617 (GRCm39) |
F424L |
probably damaging |
Het |
Mpeg1 |
A |
C |
19: 12,439,973 (GRCm39) |
D477A |
probably benign |
Het |
Muc5b |
T |
G |
7: 141,422,226 (GRCm39) |
I4454S |
possibly damaging |
Het |
Ntng1 |
G |
A |
3: 109,841,875 (GRCm39) |
|
probably benign |
Het |
Or52r1b |
T |
C |
7: 102,691,604 (GRCm39) |
I306T |
possibly damaging |
Het |
Or7e175 |
T |
A |
9: 20,048,937 (GRCm39) |
L175* |
probably null |
Het |
Pex11a |
A |
T |
7: 79,387,208 (GRCm39) |
|
probably null |
Het |
Plcg2 |
A |
G |
8: 118,333,960 (GRCm39) |
D911G |
probably benign |
Het |
Rc3h2 |
T |
C |
2: 37,279,817 (GRCm39) |
T471A |
probably benign |
Het |
Rif1 |
T |
A |
2: 52,006,708 (GRCm39) |
L2214Q |
probably damaging |
Het |
Rtel1 |
T |
A |
2: 180,977,830 (GRCm39) |
S120T |
probably benign |
Het |
Ryr1 |
A |
G |
7: 28,804,491 (GRCm39) |
|
probably benign |
Het |
Sh3yl1 |
G |
T |
12: 30,989,666 (GRCm39) |
A129S |
probably damaging |
Het |
Slc25a10 |
A |
G |
11: 120,387,879 (GRCm39) |
T191A |
probably benign |
Het |
Slc8b1 |
T |
C |
5: 120,663,856 (GRCm39) |
S359P |
probably damaging |
Het |
Srf |
T |
C |
17: 46,866,349 (GRCm39) |
T136A |
possibly damaging |
Het |
Stx1a |
G |
T |
5: 135,052,473 (GRCm39) |
|
probably benign |
Het |
Taf1d |
T |
A |
9: 15,221,690 (GRCm39) |
C224* |
probably null |
Het |
Tnik |
A |
G |
3: 28,675,226 (GRCm39) |
S700G |
probably null |
Het |
Ttn |
T |
C |
2: 76,773,331 (GRCm39) |
H2357R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,566,458 (GRCm39) |
E28145G |
probably damaging |
Het |
Ush1c |
C |
A |
7: 45,858,561 (GRCm39) |
V576F |
possibly damaging |
Het |
Xpc |
T |
C |
6: 91,492,726 (GRCm39) |
E19G |
probably benign |
Het |
Zdhhc25 |
G |
A |
15: 88,485,045 (GRCm39) |
V127M |
probably damaging |
Het |
|
Other mutations in Mtmr10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01999:Mtmr10
|
APN |
7 |
63,987,460 (GRCm39) |
missense |
probably benign |
|
IGL02082:Mtmr10
|
APN |
7 |
63,983,238 (GRCm39) |
splice site |
probably benign |
|
IGL02234:Mtmr10
|
APN |
7 |
63,949,350 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02515:Mtmr10
|
APN |
7 |
63,987,259 (GRCm39) |
missense |
probably damaging |
1.00 |
Curlyq
|
UTSW |
7 |
63,983,187 (GRCm39) |
missense |
probably damaging |
1.00 |
K7371:Mtmr10
|
UTSW |
7 |
63,963,958 (GRCm39) |
missense |
probably benign |
0.18 |
PIT4472001:Mtmr10
|
UTSW |
7 |
63,983,106 (GRCm39) |
missense |
probably benign |
0.23 |
R0302:Mtmr10
|
UTSW |
7 |
63,947,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R0619:Mtmr10
|
UTSW |
7 |
63,970,961 (GRCm39) |
missense |
probably benign |
0.00 |
R0787:Mtmr10
|
UTSW |
7 |
63,950,363 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0972:Mtmr10
|
UTSW |
7 |
63,976,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1482:Mtmr10
|
UTSW |
7 |
63,963,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R1770:Mtmr10
|
UTSW |
7 |
63,986,469 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1826:Mtmr10
|
UTSW |
7 |
63,987,214 (GRCm39) |
missense |
probably benign |
0.00 |
R2174:Mtmr10
|
UTSW |
7 |
63,986,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2215:Mtmr10
|
UTSW |
7 |
63,987,403 (GRCm39) |
missense |
probably benign |
0.00 |
R2352:Mtmr10
|
UTSW |
7 |
63,947,328 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2411:Mtmr10
|
UTSW |
7 |
63,947,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R3702:Mtmr10
|
UTSW |
7 |
63,987,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R3710:Mtmr10
|
UTSW |
7 |
63,976,433 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3802:Mtmr10
|
UTSW |
7 |
63,970,376 (GRCm39) |
missense |
probably benign |
0.29 |
R4190:Mtmr10
|
UTSW |
7 |
63,963,934 (GRCm39) |
missense |
probably benign |
0.37 |
R4484:Mtmr10
|
UTSW |
7 |
63,970,379 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4562:Mtmr10
|
UTSW |
7 |
63,963,907 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5128:Mtmr10
|
UTSW |
7 |
63,983,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R5203:Mtmr10
|
UTSW |
7 |
63,967,909 (GRCm39) |
missense |
probably benign |
|
R5444:Mtmr10
|
UTSW |
7 |
63,938,149 (GRCm39) |
splice site |
probably null |
|
R5627:Mtmr10
|
UTSW |
7 |
63,986,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R5786:Mtmr10
|
UTSW |
7 |
63,987,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R7078:Mtmr10
|
UTSW |
7 |
63,970,375 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7236:Mtmr10
|
UTSW |
7 |
63,963,932 (GRCm39) |
utr 3 prime |
probably benign |
|
R7575:Mtmr10
|
UTSW |
7 |
63,947,213 (GRCm39) |
missense |
probably damaging |
0.99 |
R7863:Mtmr10
|
UTSW |
7 |
63,969,205 (GRCm39) |
missense |
probably benign |
0.03 |
R7939:Mtmr10
|
UTSW |
7 |
63,963,899 (GRCm39) |
missense |
probably benign |
0.19 |
R9370:Mtmr10
|
UTSW |
7 |
63,969,249 (GRCm39) |
missense |
probably benign |
0.12 |
|
Posted On |
2015-04-16 |