Incidental Mutation 'R6316:Mtmr12'
| ID |
509999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr12
|
| Ensembl Gene |
ENSMUSG00000039458 |
| Gene Name |
myotubularin related protein 12 |
| Synonyms |
Pip3ap, C730015A02Rik |
| MMRRC Submission |
044416-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
12205056-12272326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12236199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 153
(C153S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038172]
[ENSMUST00000071993]
[ENSMUST00000174160]
[ENSMUST00000174418]
|
| AlphaFold |
Q80TA6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038172
AA Change: C153S
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041227
Gene: ENSMUSG00000039458
AA Change: C153S
| 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 benign
Transcript: ENSMUST00000071993
|
| SMART Domains |
Protein: ENSMUSP00000071883
Gene: ENSMUSG00000039458
| 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 |
noncoding transcript
Transcript: ENSMUST00000173071
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174160
AA Change: C153S
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134293
Gene: ENSMUSG00000039458
AA Change: C153S
| 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 |
possibly damaging
Transcript: ENSMUST00000174418
AA Change: C153S
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133285
Gene: ENSMUSG00000039458
AA Change: C153S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
42 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,118 (GRCm39) |
T775A |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,509,196 (GRCm39) |
N523I |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,647,187 (GRCm39) |
T3118A |
possibly damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Asxl3 |
A |
G |
18: 22,655,839 (GRCm39) |
Y1283C |
probably damaging |
Het |
| Btbd2 |
T |
A |
10: 80,480,612 (GRCm39) |
I319F |
probably damaging |
Het |
| Eno4 |
G |
A |
19: 58,948,723 (GRCm39) |
|
probably null |
Het |
| Glis2 |
T |
A |
16: 4,431,700 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,757,277 (GRCm39) |
C395S |
probably benign |
Het |
| H1f8 |
T |
C |
6: 115,925,876 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
T |
A |
1: 66,774,744 (GRCm39) |
Y694F |
probably benign |
Het |
| Kcnj1 |
A |
T |
9: 32,308,632 (GRCm39) |
E332V |
probably damaging |
Het |
| Klhdc7a |
T |
C |
4: 139,694,113 (GRCm39) |
E278G |
probably benign |
Het |
| Krt33a |
T |
C |
11: 99,905,027 (GRCm39) |
N160D |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,823,567 (GRCm39) |
N448S |
probably damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,774 (GRCm39) |
Y245C |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,028,467 (GRCm39) |
I457T |
possibly damaging |
Het |
| Manf |
A |
G |
9: 106,766,385 (GRCm39) |
L132P |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,860,481 (GRCm39) |
D321G |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,553,115 (GRCm39) |
T4393A |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,356,787 (GRCm39) |
|
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,768 (GRCm39) |
Y276C |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,720,822 (GRCm39) |
K225N |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Rilpl2 |
A |
G |
5: 124,615,943 (GRCm39) |
V69A |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,232,210 (GRCm39) |
V99A |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,204,709 (GRCm39) |
V196A |
probably benign |
Het |
| Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
| Tcte1 |
A |
G |
17: 45,845,786 (GRCm39) |
H130R |
probably benign |
Het |
| Tead1 |
C |
A |
7: 112,491,046 (GRCm39) |
Q296K |
probably damaging |
Het |
| Thoc2l |
G |
C |
5: 104,667,595 (GRCm39) |
G706R |
probably damaging |
Het |
| Tmem163 |
C |
T |
1: 127,479,102 (GRCm39) |
S139N |
probably benign |
Het |
| Tor1aip2 |
G |
T |
1: 155,937,840 (GRCm39) |
D192Y |
probably damaging |
Het |
| Trgv2 |
G |
A |
13: 19,520,912 (GRCm39) |
Q61* |
probably null |
Het |
| Trib1 |
T |
C |
15: 59,521,264 (GRCm39) |
S85P |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,750,336 (GRCm39) |
N1581K |
probably benign |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,883,930 (GRCm39) |
Y563C |
probably damaging |
Het |
|
| Other mutations in Mtmr12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01801:Mtmr12
|
APN |
15 |
12,270,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCAAAAGAATGCTGCTGG -3'
(R):5'- TGCCAAGTCAATACAGTCTTGCC -3'
Sequencing Primer
(F):5'- AATGCTGCTGGGAGGGG -3'
(R):5'- AGTCAATACAGTCTTGCCTGCCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation