Incidental Mutation 'IGL02579:Mtmr6'
| ID |
299309 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtmr6
|
| Ensembl Gene |
ENSMUSG00000021987 |
| Gene Name |
myotubularin related protein 6 |
| Synonyms |
Gm38641, 4022440C11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02579
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
60502677-60539819 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 60519378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022563]
[ENSMUST00000224366]
|
| AlphaFold |
Q8VE11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022563
|
| SMART Domains |
Protein: ENSMUSP00000022563
Gene: ENSMUSG00000021987
| 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 |
probably benign
Transcript: ENSMUST00000224366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225574
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,005,537 (GRCm39) |
E1140G |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,091,135 (GRCm39) |
E461G |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,176,175 (GRCm39) |
|
probably benign |
Het |
| Calhm6 |
C |
A |
10: 34,003,423 (GRCm39) |
M161I |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,829,416 (GRCm39) |
M729T |
possibly damaging |
Het |
| Enpep |
G |
A |
3: 129,077,739 (GRCm39) |
T626M |
probably benign |
Het |
| Gje1 |
A |
T |
10: 14,592,492 (GRCm39) |
C97S |
probably benign |
Het |
| Igkv4-58 |
T |
A |
6: 69,477,385 (GRCm39) |
I71F |
probably damaging |
Het |
| Itfg1 |
G |
A |
8: 86,507,194 (GRCm39) |
T222M |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Nwd1 |
A |
T |
8: 73,434,155 (GRCm39) |
I1251F |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,892 (GRCm39) |
D267G |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pold1 |
T |
C |
7: 44,192,703 (GRCm39) |
E53G |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,488,465 (GRCm39) |
D529V |
possibly damaging |
Het |
| Rgl2 |
A |
G |
17: 34,156,134 (GRCm39) |
T741A |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,169 (GRCm39) |
N26S |
probably benign |
Het |
| Traf5 |
G |
T |
1: 191,731,848 (GRCm39) |
P28Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,589,433 (GRCm39) |
Y21274H |
probably damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,961 (GRCm39) |
K479* |
probably null |
Het |
| Zfp322a |
A |
T |
13: 23,541,613 (GRCm39) |
V43E |
probably damaging |
Het |
| Zfp385c |
C |
A |
11: 100,521,605 (GRCm39) |
G152C |
probably damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,962,868 (GRCm39) |
N177Y |
possibly 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 |
|
|
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 |
|
|
R0577:Mtmr6
|
UTSW |
14 |
60,534,087 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation