Incidental Mutation 'IGL02082:Mtmr10'
ID |
283412 |
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 # |
IGL02082
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
63937418-63990554 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 63983238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032736]
[ENSMUST00000206452]
|
AlphaFold |
Q7TPM9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032736
|
SMART Domains |
Protein: ENSMUSP00000032736 Gene: ENSMUSG00000030522
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 |
noncoding transcript
Transcript: ENSMUST00000173374
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206452
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp9b |
A |
C |
18: 80,935,145 (GRCm39) |
|
probably benign |
Het |
Brinp3 |
T |
C |
1: 146,627,600 (GRCm39) |
C278R |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,917,320 (GRCm39) |
S47G |
unknown |
Het |
Clec16a |
T |
C |
16: 10,432,432 (GRCm39) |
L484P |
probably damaging |
Het |
Cnksr1 |
C |
A |
4: 133,963,363 (GRCm39) |
G71C |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,428,317 (GRCm39) |
N246I |
possibly damaging |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Focad |
C |
T |
4: 88,148,815 (GRCm39) |
Q511* |
probably null |
Het |
Gpr63 |
A |
G |
4: 25,008,564 (GRCm39) |
|
probably benign |
Het |
Iah1 |
C |
A |
12: 21,367,405 (GRCm39) |
S37* |
probably null |
Het |
Inpp4a |
T |
A |
1: 37,405,708 (GRCm39) |
|
probably benign |
Het |
Mcm2 |
A |
T |
6: 88,865,218 (GRCm39) |
Y486* |
probably null |
Het |
Nbea |
A |
G |
3: 55,875,588 (GRCm39) |
L1694S |
possibly damaging |
Het |
Pafah1b1 |
A |
G |
11: 74,590,159 (GRCm39) |
S4P |
probably benign |
Het |
Rnase10 |
A |
T |
14: 51,246,856 (GRCm39) |
E41V |
probably damaging |
Het |
Slc17a6 |
G |
T |
7: 51,318,777 (GRCm39) |
R473L |
probably benign |
Het |
Spata31g1 |
A |
G |
4: 42,970,198 (GRCm39) |
T2A |
probably benign |
Het |
Tbc1d9b |
A |
G |
11: 50,054,709 (GRCm39) |
D951G |
probably benign |
Het |
Tk1 |
C |
A |
11: 117,716,553 (GRCm39) |
|
probably null |
Het |
Trim46 |
C |
A |
3: 89,146,307 (GRCm39) |
A395S |
probably benign |
Het |
Vmn1r113 |
C |
T |
7: 20,521,672 (GRCm39) |
H155Y |
probably benign |
Het |
Vmn1r222 |
A |
G |
13: 23,416,499 (GRCm39) |
M238T |
probably damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
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 |
|
IGL02234:Mtmr10
|
APN |
7 |
63,949,350 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02448:Mtmr10
|
APN |
7 |
63,957,898 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |