Incidental Mutation 'R9370:Mtmr10'
| ID |
709266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr10
|
| Ensembl Gene |
ENSMUSG00000030522 |
| Gene Name |
myotubularin related protein 10 |
| Synonyms |
|
| MMRRC Submission |
068964-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R9370 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
63937418-63990554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63969249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 337
(E337G)
|
| 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: E337G
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: E337G
| 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 |
probably benign
Transcript: ENSMUST00000206680
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1d1 |
T |
A |
6: 37,544,099 (GRCm39) |
*326R |
probably null |
Het |
| Cntn5 |
T |
A |
9: 9,833,520 (GRCm39) |
I344F |
probably benign |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Eln |
C |
T |
5: 134,741,476 (GRCm39) |
V563I |
unknown |
Het |
| Epb41l5 |
T |
C |
1: 119,561,312 (GRCm39) |
Y83C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,673,511 (GRCm39) |
D91G |
possibly damaging |
Het |
| Fscn3 |
T |
C |
6: 28,434,535 (GRCm39) |
V370A |
probably benign |
Het |
| Gcc2 |
A |
G |
10: 58,131,940 (GRCm39) |
N1550S |
probably benign |
Het |
| Gck |
T |
C |
11: 5,852,244 (GRCm39) |
D365G |
possibly damaging |
Het |
| Hhatl |
C |
T |
9: 121,617,836 (GRCm39) |
G251E |
possibly damaging |
Het |
| Hspa12a |
A |
G |
19: 58,813,708 (GRCm39) |
F139S |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,018 (GRCm39) |
D497G |
probably damaging |
Het |
| Ino80 |
A |
G |
2: 119,232,848 (GRCm39) |
S1157P |
probably damaging |
Het |
| Jmjd6 |
A |
G |
11: 116,729,952 (GRCm39) |
I315T |
probably benign |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lyst |
C |
T |
13: 13,935,333 (GRCm39) |
H3601Y |
probably damaging |
Het |
| Mars2 |
T |
C |
1: 55,276,624 (GRCm39) |
S76P |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,760,246 (GRCm39) |
D254G |
possibly damaging |
Het |
| Nell1 |
A |
T |
7: 49,770,292 (GRCm39) |
E117V |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,884,937 (GRCm39) |
S36P |
possibly damaging |
Het |
| Rps6kc1 |
A |
C |
1: 190,531,222 (GRCm39) |
L927V |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,441,080 (GRCm39) |
I1042N |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,481,259 (GRCm39) |
N41D |
possibly damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,834,855 (GRCm39) |
T5A |
probably benign |
Het |
| Tbc1d22a |
C |
T |
15: 86,123,441 (GRCm39) |
T194I |
probably benign |
Het |
| Tmem234 |
T |
A |
4: 129,500,922 (GRCm39) |
V93D |
probably damaging |
Het |
| Trim43b |
T |
C |
9: 88,971,559 (GRCm39) |
E199G |
probably benign |
Het |
| Ttc24 |
A |
T |
3: 87,980,136 (GRCm39) |
V148E |
probably benign |
Het |
| Utp15 |
A |
G |
13: 98,387,119 (GRCm39) |
F434L |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,104,424 (GRCm39) |
Y349C |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,546,844 (GRCm39) |
V865E |
probably damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,521,340 (GRCm39) |
R821C |
probably damaging |
Het |
| Zfp90 |
A |
G |
8: 107,145,791 (GRCm39) |
D41G |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,744,148 (GRCm39) |
C835S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCCTTACTAGGCCCCATAGG -3'
(R):5'- AGGAACATCACTTTTCCTGATTGTTCC -3'
Sequencing Primer
(F):5'- CCATAGGCTGACACCATTGTATG -3'
(R):5'- CCTGATTGTTCCAACATAATTTTTTA -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation