Incidental Mutation 'IGL02234:Mtmr10'
| ID |
285850 |
| 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 # |
IGL02234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
63937418-63990554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63949350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 108
(I108V)
|
| 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: I108V
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: I108V
| 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
AA Change: I108V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,645,179 (GRCm39) |
T1010M |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,829,303 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,756 (GRCm39) |
K1585* |
probably null |
Het |
| Cdh19 |
T |
C |
1: 110,859,956 (GRCm39) |
D175G |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,707,159 (GRCm39) |
R1214L |
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,753,478 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
T |
C |
8: 11,266,713 (GRCm39) |
K1165E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,890,631 (GRCm39) |
F1888L |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,811,512 (GRCm39) |
R1193L |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,274,340 (GRCm39) |
H347L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,143,748 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,549,039 (GRCm39) |
V193A |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,691,495 (GRCm39) |
|
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,439,938 (GRCm39) |
H79Y |
probably damaging |
Het |
| Gm12588 |
T |
A |
11: 121,799,151 (GRCm39) |
|
|
Het |
| Gpr107 |
T |
C |
2: 31,067,845 (GRCm39) |
Y222H |
probably damaging |
Het |
| Gzmn |
C |
T |
14: 56,406,464 (GRCm39) |
|
probably null |
Het |
| Helq |
A |
G |
5: 100,944,336 (GRCm39) |
I258T |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,661 (GRCm39) |
K137R |
probably benign |
Het |
| Htr1f |
T |
A |
16: 64,746,430 (GRCm39) |
R287S |
probably damaging |
Het |
| Il20ra |
A |
C |
10: 19,625,018 (GRCm39) |
D99A |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mboat7 |
A |
G |
7: 3,694,350 (GRCm39) |
Y34H |
probably damaging |
Het |
| Mid2 |
T |
C |
X: 139,664,418 (GRCm39) |
S646P |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,294,229 (GRCm39) |
S995P |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,226,842 (GRCm39) |
T1395M |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,302 (GRCm39) |
F448L |
probably damaging |
Het |
| Odc1 |
C |
A |
12: 17,598,621 (GRCm39) |
D220E |
possibly damaging |
Het |
| Or8k33 |
T |
C |
2: 86,383,610 (GRCm39) |
N286S |
probably damaging |
Het |
| Pax7 |
A |
G |
4: 139,555,901 (GRCm39) |
I189T |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,416,588 (GRCm39) |
H179L |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,467,694 (GRCm39) |
M1836L |
probably benign |
Het |
| Psmc5 |
T |
C |
11: 106,153,836 (GRCm39) |
V390A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,368,766 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,679,318 (GRCm39) |
R866C |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,646,647 (GRCm39) |
F271S |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,282,301 (GRCm39) |
|
probably null |
Het |
| Ttll8 |
T |
A |
15: 88,798,252 (GRCm39) |
I828F |
possibly damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,537 (GRCm39) |
Y241C |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
|
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 |
Incidental Mutation