Incidental Mutation 'IGL01817:Ppp1r14a'
| ID |
154420 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r14a
|
| Ensembl Gene |
ENSMUSG00000037166 |
| Gene Name |
protein phosphatase 1, regulatory inhibitor subunit 14A |
| Synonyms |
1110001M11Rik, Cpi17 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01817
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28988732-28992817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28992622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 108
(V108A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048187]
[ENSMUST00000207714]
|
| AlphaFold |
Q91VC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048187
AA Change: V108A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000035642
Gene: ENSMUSG00000037166
AA Change: V108A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PP1_inhibitor
|
1 |
136 |
2.1e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207714
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Eif4g3 |
T |
C |
4: 137,847,673 (GRCm39) |
V198A |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 85,046,320 (GRCm39) |
E23G |
probably damaging |
Het |
| Gm4847 |
C |
A |
1: 166,462,471 (GRCm39) |
D340Y |
probably damaging |
Het |
| Gtf3c5 |
T |
C |
2: 28,459,301 (GRCm39) |
|
probably null |
Het |
| Ighv1-13 |
G |
A |
12: 114,594,600 (GRCm39) |
|
probably benign |
Het |
| Ighv1-43 |
C |
A |
12: 114,909,714 (GRCm39) |
E69D |
probably benign |
Het |
| Ighv1-43 |
T |
C |
12: 114,909,715 (GRCm39) |
E69G |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,356,728 (GRCm39) |
L138F |
probably damaging |
Het |
| Nme1nme2 |
G |
T |
11: 93,846,447 (GRCm39) |
|
probably benign |
Het |
| Nsun5 |
G |
T |
5: 135,398,893 (GRCm39) |
G19V |
probably damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,348 (GRCm39) |
I294T |
probably benign |
Het |
| Or4c118 |
A |
G |
2: 88,974,702 (GRCm39) |
F222L |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,587,030 (GRCm39) |
I148V |
probably benign |
Het |
| Per1 |
T |
C |
11: 68,995,025 (GRCm39) |
L615P |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,423,908 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
T |
A |
9: 105,528,021 (GRCm39) |
I458N |
probably damaging |
Het |
| Scamp2 |
T |
A |
9: 57,488,903 (GRCm39) |
C201* |
probably null |
Het |
| Speer1c |
C |
A |
5: 10,295,297 (GRCm39) |
A48S |
probably damaging |
Het |
| Stambpl1 |
G |
T |
19: 34,211,393 (GRCm39) |
L151F |
possibly damaging |
Het |
| Tent5c |
T |
C |
3: 100,380,171 (GRCm39) |
Y195C |
probably damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,222 (GRCm39) |
T107I |
probably damaging |
Het |
|
| Other mutations in Ppp1r14a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4784:Ppp1r14a
|
UTSW |
7 |
28,991,486 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4801:Ppp1r14a
|
UTSW |
7 |
28,990,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Ppp1r14a
|
UTSW |
7 |
28,990,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5221:Ppp1r14a
|
UTSW |
7 |
28,988,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Ppp1r14a
|
UTSW |
7 |
28,988,791 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5588:Ppp1r14a
|
UTSW |
7 |
28,992,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Ppp1r14a
|
UTSW |
7 |
28,988,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Ppp1r14a
|
UTSW |
7 |
28,992,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9556:Ppp1r14a
|
UTSW |
7 |
28,988,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation