Incidental Mutation 'R2411:Mtmr10'
| ID |
249988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr10
|
| Ensembl Gene |
ENSMUSG00000030522 |
| Gene Name |
myotubularin related protein 10 |
| Synonyms |
|
| MMRRC Submission |
040376-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R2411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
63937418-63990554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63947245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 53
(K53N)
|
| 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: K53N
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: K53N
| 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: ENSMUST00000173123
AA Change: K96N
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174210
AA Change: K53N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206452
AA Change: K53N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206732
|
| Meta Mutation Damage Score |
0.4378 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4933402D24Rik |
A |
G |
1: 63,795,373 (GRCm39) |
|
probably benign |
Het |
| 9030612E09Rik |
G |
T |
10: 43,050,796 (GRCm39) |
R30L |
possibly damaging |
Het |
| Aadacl2 |
A |
G |
3: 59,924,844 (GRCm39) |
D137G |
possibly damaging |
Het |
| Acad11 |
T |
G |
9: 103,963,222 (GRCm39) |
|
probably benign |
Het |
| Acap1 |
A |
T |
11: 69,776,311 (GRCm39) |
N229K |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,369,898 (GRCm39) |
T666A |
probably damaging |
Het |
| Btbd16 |
T |
C |
7: 130,391,954 (GRCm39) |
F160L |
probably damaging |
Het |
| Clock |
A |
C |
5: 76,379,360 (GRCm39) |
H525Q |
probably benign |
Het |
| Col6a1 |
G |
T |
10: 76,546,922 (GRCm39) |
Q767K |
unknown |
Het |
| Creld1 |
A |
G |
6: 113,466,737 (GRCm39) |
H240R |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,932,755 (GRCm39) |
|
probably null |
Het |
| Fam204a |
A |
T |
19: 60,187,870 (GRCm39) |
*237R |
probably null |
Het |
| Filip1 |
T |
A |
9: 79,805,715 (GRCm39) |
N13I |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,499,206 (GRCm39) |
A19S |
probably benign |
Het |
| Hddc3 |
A |
T |
7: 79,993,341 (GRCm39) |
Q56L |
probably damaging |
Het |
| Hes6 |
A |
C |
1: 91,340,986 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
A |
G |
3: 95,487,326 (GRCm39) |
D270G |
probably benign |
Het |
| Ifitm1 |
A |
G |
7: 140,549,711 (GRCm39) |
|
probably null |
Het |
| Igbp1b |
A |
C |
6: 138,634,871 (GRCm39) |
V191G |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,072,517 (GRCm39) |
N316K |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,914,453 (GRCm39) |
Y566C |
probably damaging |
Het |
| Map4k4 |
A |
G |
1: 40,046,656 (GRCm39) |
D775G |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,155,662 (GRCm39) |
R864W |
probably damaging |
Het |
| Nckap1l |
C |
A |
15: 103,391,995 (GRCm39) |
P810Q |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,290 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or1ad1 |
A |
G |
11: 50,875,758 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a27 |
C |
T |
2: 88,559,741 (GRCm39) |
M67I |
probably benign |
Het |
| Ppp2r3c |
T |
C |
12: 55,345,269 (GRCm39) |
K73R |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,498,780 (GRCm39) |
F1311Y |
probably damaging |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,379,497 (GRCm39) |
E1104G |
possibly damaging |
Het |
| St14 |
G |
A |
9: 31,019,530 (GRCm39) |
T97I |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,281,290 (GRCm39) |
|
probably benign |
Het |
| Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
| Tor1b |
G |
T |
2: 30,845,824 (GRCm39) |
S167I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,359 (GRCm39) |
E27511D |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,306,258 (GRCm39) |
|
probably benign |
Het |
| Vmn1r10 |
G |
T |
6: 57,091,124 (GRCm39) |
V239F |
probably benign |
Het |
| Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
| Zfp160 |
C |
T |
17: 21,246,007 (GRCm39) |
R186C |
possibly damaging |
Het |
| Zfp869 |
A |
G |
8: 70,159,179 (GRCm39) |
C465R |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,782 (GRCm39) |
K6E |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCAGCTCTTCTTCACAG -3'
(R):5'- CCACCGTTTACAGTGTATTTCTAG -3'
Sequencing Primer
(F):5'- ACAGTCATTCTTTCAGCCACCAG -3'
(R):5'- GTGTATTTCTAGCAGTAATGCATTGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation