Incidental Mutation 'R0577:Mtmr6'
| ID |
56273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr6
|
| Ensembl Gene |
ENSMUSG00000021987 |
| Gene Name |
myotubularin related protein 6 |
| Synonyms |
Gm38641, 4022440C11Rik |
| MMRRC Submission |
038767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0577 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
60502677-60539819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60534087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 442
(V442I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022563]
[ENSMUST00000224366]
|
| AlphaFold |
Q8VE11 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022563
AA Change: V404I
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022563
Gene: ENSMUSG00000021987
AA Change: V404I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
107 |
446 |
1.3e-143 |
PFAM |
|
coiled coil region
|
510 |
548 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224164
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224366
AA Change: V442I
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,910 (GRCm39) |
H336Q |
probably benign |
Het |
| Abcc2 |
A |
T |
19: 43,807,840 (GRCm39) |
D827V |
probably damaging |
Het |
| Asph |
G |
T |
4: 9,604,620 (GRCm39) |
A139E |
probably benign |
Het |
| Bag3 |
T |
C |
7: 128,125,611 (GRCm39) |
M10T |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,952,230 (GRCm39) |
D2894G |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,332 (GRCm39) |
S47P |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,413,462 (GRCm39) |
V1118I |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,411,818 (GRCm39) |
C365S |
possibly damaging |
Het |
| Eef1g |
A |
G |
19: 8,950,406 (GRCm39) |
D264G |
probably benign |
Het |
| Fbxw17 |
T |
C |
13: 50,585,619 (GRCm39) |
L274P |
probably benign |
Het |
| Gpc6 |
A |
G |
14: 117,673,420 (GRCm39) |
T226A |
probably benign |
Het |
| Klf12 |
T |
A |
14: 100,260,585 (GRCm39) |
Y48F |
probably damaging |
Het |
| Klhdc4 |
C |
T |
8: 122,548,090 (GRCm39) |
A67T |
probably damaging |
Het |
| Macir |
C |
T |
1: 97,589,551 (GRCm39) |
|
probably null |
Het |
| Madd |
C |
T |
2: 90,968,740 (GRCm39) |
E1596K |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,889,930 (GRCm39) |
Y533C |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,490,862 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
C |
T |
14: 50,272,249 (GRCm39) |
G204R |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,061 (GRCm39) |
D270E |
probably benign |
Het |
| Or9i16 |
T |
C |
19: 13,865,167 (GRCm39) |
T136A |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,087,271 (GRCm39) |
N277S |
probably benign |
Het |
| Pias2 |
A |
T |
18: 77,184,977 (GRCm39) |
L12F |
probably damaging |
Het |
| Potefam1 |
G |
T |
2: 111,024,694 (GRCm39) |
Q57K |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,334,106 (GRCm39) |
R3105L |
probably damaging |
Het |
| Rps11 |
A |
G |
7: 44,772,274 (GRCm39) |
V111A |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,321,047 (GRCm39) |
T1543A |
possibly damaging |
Het |
| Vmn2r86 |
C |
A |
10: 130,288,444 (GRCm39) |
R352S |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,125,938 (GRCm39) |
N178S |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,461,068 (GRCm39) |
F355I |
probably damaging |
Het |
|
| Other mutations in Mtmr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00837:Mtmr6
|
APN |
14 |
60,517,666 (GRCm39) |
nonsense |
probably null |
|
|
IGL01377:Mtmr6
|
APN |
14 |
60,519,483 (GRCm39) |
nonsense |
probably null |
|
|
IGL02579:Mtmr6
|
APN |
14 |
60,519,378 (GRCm39) |
splice site |
probably benign |
|
|
IGL02598:Mtmr6
|
APN |
14 |
60,537,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03007:Mtmr6
|
APN |
14 |
60,526,984 (GRCm39) |
splice site |
probably benign |
|
|
Chilly
|
UTSW |
14 |
60,529,578 (GRCm39) |
splice site |
probably null |
|
|
IGL03046:Mtmr6
|
UTSW |
14 |
60,529,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0542:Mtmr6
|
UTSW |
14 |
60,529,578 (GRCm39) |
splice site |
probably null |
|
|
R1845:Mtmr6
|
UTSW |
14 |
60,534,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1999:Mtmr6
|
UTSW |
14 |
60,530,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Mtmr6
|
UTSW |
14 |
60,536,441 (GRCm39) |
missense |
probably benign |
|
|
R2019:Mtmr6
|
UTSW |
14 |
60,536,441 (GRCm39) |
missense |
probably benign |
|
|
R2078:Mtmr6
|
UTSW |
14 |
60,529,436 (GRCm39) |
splice site |
probably null |
|
|
R2120:Mtmr6
|
UTSW |
14 |
60,534,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3743:Mtmr6
|
UTSW |
14 |
60,537,747 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4739:Mtmr6
|
UTSW |
14 |
60,529,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Mtmr6
|
UTSW |
14 |
60,517,638 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5603:Mtmr6
|
UTSW |
14 |
60,522,450 (GRCm39) |
nonsense |
probably null |
|
|
R6056:Mtmr6
|
UTSW |
14 |
60,535,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Mtmr6
|
UTSW |
14 |
60,537,963 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7438:Mtmr6
|
UTSW |
14 |
60,537,753 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7634:Mtmr6
|
UTSW |
14 |
60,533,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7678:Mtmr6
|
UTSW |
14 |
60,527,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Mtmr6
|
UTSW |
14 |
60,537,894 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8003:Mtmr6
|
UTSW |
14 |
60,519,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8721:Mtmr6
|
UTSW |
14 |
60,527,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGGCATGGGAACTATAGCTCTG -3'
(R):5'- GTACAGCCATGATGTACGGTGGTG -3'
Sequencing Primer
(F):5'- gtcctcctgcttttccttcc -3'
(R):5'- ATGTACGGTGGTGCAGGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation