Incidental Mutation 'IGL01801:Mtmr12'
| ID |
155526 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtmr12
|
| Ensembl Gene |
ENSMUSG00000039458 |
| Gene Name |
myotubularin related protein 12 |
| Synonyms |
Pip3ap, C730015A02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
12205056-12272326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12270045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 711
(L711P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038172]
[ENSMUST00000071993]
[ENSMUST00000174160]
[ENSMUST00000174418]
|
| AlphaFold |
Q80TA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038172
AA Change: L711P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041227
Gene: ENSMUSG00000039458
AA Change: L711P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
42 |
N/A |
INTRINSIC |
|
Pfam:Myotub-related
|
182 |
501 |
7.6e-55 |
PFAM |
|
Pfam:3-PAP
|
559 |
687 |
3.2e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071993
AA Change: L401P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071883
Gene: ENSMUSG00000039458
AA Change: L401P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
|
Pfam:Myotub-related
|
17 |
193 |
7.8e-53 |
PFAM |
|
Pfam:3-PAP
|
249 |
380 |
8.8e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174160
|
| SMART Domains |
Protein: ENSMUSP00000134293
Gene: ENSMUSG00000039458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
42 |
N/A |
INTRINSIC |
|
Pfam:Myotub-related
|
182 |
501 |
3.2e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174418
|
| SMART Domains |
Protein: ENSMUSP00000133285
Gene: ENSMUSG00000039458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
42 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1303 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
C |
T |
17: 54,031,870 (GRCm39) |
|
noncoding transcript |
Het |
| Acsm4 |
C |
T |
7: 119,306,486 (GRCm39) |
T308I |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,117,559 (GRCm39) |
N174S |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,265,918 (GRCm39) |
G281D |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,086 (GRCm39) |
N1027S |
probably null |
Het |
| Cacnb4 |
A |
T |
2: 52,324,723 (GRCm39) |
N446K |
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,606,623 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,679,393 (GRCm39) |
D215G |
probably damaging |
Het |
| Cyp2d22 |
T |
C |
15: 82,257,046 (GRCm39) |
T312A |
probably benign |
Het |
| Cyp4f40 |
A |
T |
17: 32,895,279 (GRCm39) |
N467I |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,169,015 (GRCm39) |
I62T |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,435,216 (GRCm39) |
T444A |
probably benign |
Het |
| Gabra6 |
A |
C |
11: 42,205,935 (GRCm39) |
I307R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,057,111 (GRCm39) |
R287H |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,635,574 (GRCm39) |
V127A |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,436,815 (GRCm39) |
T54S |
probably benign |
Het |
| Mrgpra6 |
T |
C |
7: 46,835,572 (GRCm39) |
D283G |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,232,642 (GRCm39) |
R70G |
probably benign |
Het |
| Or4n4 |
A |
G |
14: 50,519,665 (GRCm39) |
I15T |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,334,576 (GRCm39) |
|
probably null |
Het |
| Prmt9 |
T |
C |
8: 78,289,069 (GRCm39) |
V257A |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,434,072 (GRCm39) |
V959A |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,225,131 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
C |
T |
15: 7,916,805 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mtmr12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02158:Mtmr12
|
APN |
15 |
12,238,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pius
|
UTSW |
15 |
12,245,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Mtmr12
|
UTSW |
15 |
12,257,792 (GRCm39) |
nonsense |
probably null |
|
|
R1739:Mtmr12
|
UTSW |
15 |
12,245,105 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1876:Mtmr12
|
UTSW |
15 |
12,257,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2284:Mtmr12
|
UTSW |
15 |
12,245,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4301:Mtmr12
|
UTSW |
15 |
12,236,106 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4424:Mtmr12
|
UTSW |
15 |
12,230,400 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4617:Mtmr12
|
UTSW |
15 |
12,270,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Mtmr12
|
UTSW |
15 |
12,270,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6316:Mtmr12
|
UTSW |
15 |
12,236,199 (GRCm39) |
missense |
probably null |
0.31 |
|
R6857:Mtmr12
|
UTSW |
15 |
12,263,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7068:Mtmr12
|
UTSW |
15 |
12,257,756 (GRCm39) |
missense |
probably null |
0.08 |
|
R7511:Mtmr12
|
UTSW |
15 |
12,265,681 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7515:Mtmr12
|
UTSW |
15 |
12,270,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7607:Mtmr12
|
UTSW |
15 |
12,257,794 (GRCm39) |
nonsense |
probably null |
|
|
R7709:Mtmr12
|
UTSW |
15 |
12,245,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:Mtmr12
|
UTSW |
15 |
12,259,726 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8257:Mtmr12
|
UTSW |
15 |
12,259,684 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8398:Mtmr12
|
UTSW |
15 |
12,265,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8778:Mtmr12
|
UTSW |
15 |
12,270,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF013:Mtmr12
|
UTSW |
15 |
12,261,984 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-02-04 |
Incidental Mutation