Incidental Mutation 'K7371:Mtmr10'
ID |
7869 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr10
|
Ensembl Gene |
ENSMUSG00000030522 |
Gene Name |
myotubularin related protein 10 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
K7371
of strain
614
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
63937418-63990554 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 63963958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 231
(G231D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032736
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032736]
[ENSMUST00000206452]
|
AlphaFold |
Q7TPM9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032736
AA Change: G231D
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000032736 Gene: ENSMUSG00000030522 AA Change: G231D
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 benign
Transcript: ENSMUST00000206452
|
Predicted Effect |
unknown
Transcript: ENSMUST00000206680
AA Change: A59T
|
Meta Mutation Damage Score |
0.1923 |
Coding Region Coverage |
|
Validation Efficiency |
72% (67/93) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,767 (GRCm39) |
Y155C |
probably benign |
Homo |
Alpi |
G |
A |
1: 87,026,893 (GRCm39) |
|
probably benign |
Homo |
Ap4e1 |
T |
A |
2: 126,908,456 (GRCm39) |
|
probably benign |
Het |
Arhgdib |
A |
T |
6: 136,909,297 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
C |
2: 91,425,868 (GRCm39) |
|
probably benign |
Het |
Ddx50 |
A |
T |
10: 62,457,289 (GRCm39) |
M1K |
probably null |
Het |
Ell3 |
T |
C |
2: 121,269,969 (GRCm39) |
H380R |
probably damaging |
Het |
Epx |
A |
G |
11: 87,755,710 (GRCm39) |
V658A |
probably damaging |
Homo |
Ern1 |
A |
T |
11: 106,291,101 (GRCm39) |
I858N |
probably damaging |
Homo |
Nfx1 |
A |
G |
4: 40,976,803 (GRCm39) |
D159G |
probably damaging |
Homo |
Opn5 |
A |
G |
17: 42,891,522 (GRCm39) |
I305T |
probably damaging |
Homo |
Pak2 |
T |
C |
16: 31,852,602 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,400,838 (GRCm39) |
I2204K |
possibly damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,363,463 (GRCm39) |
T628S |
possibly damaging |
Het |
Smgc |
T |
A |
15: 91,744,453 (GRCm39) |
|
probably benign |
Het |
Stab1 |
G |
A |
14: 30,872,206 (GRCm39) |
L1194F |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,779,153 (GRCm39) |
|
probably null |
Homo |
Tet1 |
T |
C |
10: 62,714,955 (GRCm39) |
D280G |
probably benign |
Het |
Vcam1 |
A |
G |
3: 115,918,298 (GRCm39) |
I227T |
probably benign |
Homo |
Wdr87-ps |
A |
G |
7: 29,230,417 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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 |
2012-11-12 |