Incidental Mutation 'IGL00975:Ppp1r26'
ID |
27014 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp1r26
|
Ensembl Gene |
ENSMUSG00000035829 |
Gene Name |
protein phosphatase 1, regulatory subunit 26 |
Synonyms |
LOC241289 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00975
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
28336812-28345520 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28343730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1120
(L1120Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040324]
[ENSMUST00000189694]
|
AlphaFold |
Q6A025 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040324
AA Change: L1120Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042173 Gene: ENSMUSG00000035829 AA Change: L1120Q
Domain | Start | End | E-Value | Type |
Pfam:PPP1R26_N
|
1 |
812 |
N/A |
PFAM |
low complexity region
|
901 |
913 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128199
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150362
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154081
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189694
AA Change: L1120Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139546 Gene: ENSMUSG00000035829 AA Change: L1120Q
Domain | Start | End | E-Value | Type |
low complexity region
|
122 |
132 |
N/A |
INTRINSIC |
low complexity region
|
487 |
504 |
N/A |
INTRINSIC |
low complexity region
|
515 |
536 |
N/A |
INTRINSIC |
low complexity region
|
551 |
559 |
N/A |
INTRINSIC |
low complexity region
|
636 |
654 |
N/A |
INTRINSIC |
low complexity region
|
766 |
780 |
N/A |
INTRINSIC |
low complexity region
|
901 |
913 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn10 |
A |
T |
15: 85,220,666 (GRCm39) |
M1L |
probably benign |
Het |
Atxn7l3 |
A |
G |
11: 102,185,807 (GRCm39) |
S3P |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,325,012 (GRCm39) |
D70G |
probably damaging |
Het |
Col20a1 |
G |
A |
2: 180,634,271 (GRCm39) |
A79T |
probably damaging |
Het |
Cycs |
T |
A |
6: 50,542,347 (GRCm39) |
D63V |
probably benign |
Het |
Dis3 |
A |
G |
14: 99,316,670 (GRCm39) |
V855A |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,150,373 (GRCm39) |
I797F |
possibly damaging |
Het |
Dpagt1 |
T |
C |
9: 44,243,949 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,227,393 (GRCm39) |
I1840T |
possibly damaging |
Het |
Epb41l3 |
C |
T |
17: 69,514,856 (GRCm39) |
|
probably benign |
Het |
Fam20c |
C |
T |
5: 138,794,912 (GRCm39) |
H514Y |
probably benign |
Het |
Fgd6 |
A |
T |
10: 93,969,938 (GRCm39) |
M1196L |
probably damaging |
Het |
Fmo3 |
T |
C |
1: 162,791,599 (GRCm39) |
D226G |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,682,187 (GRCm39) |
L263P |
probably damaging |
Het |
Gaa |
C |
A |
11: 119,165,509 (GRCm39) |
T333K |
possibly damaging |
Het |
Gm10530 |
T |
C |
1: 159,512,444 (GRCm39) |
|
probably benign |
Het |
Gm5458 |
A |
G |
14: 19,649,735 (GRCm39) |
L163P |
|
Het |
Inpp5j |
T |
C |
11: 3,452,176 (GRCm39) |
N358S |
probably damaging |
Het |
Ms4a8a |
A |
G |
19: 11,048,151 (GRCm39) |
L193P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,102,740 (GRCm39) |
K4511R |
probably benign |
Het |
Odad1 |
A |
T |
7: 45,592,080 (GRCm39) |
K320I |
probably damaging |
Het |
Or5an10 |
A |
G |
19: 12,276,149 (GRCm39) |
S116P |
probably damaging |
Het |
Pcca |
A |
G |
14: 123,114,312 (GRCm39) |
D82G |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,048,679 (GRCm39) |
T266A |
probably benign |
Het |
Pudp |
T |
G |
18: 50,701,349 (GRCm39) |
K128T |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,225,174 (GRCm39) |
T94A |
possibly damaging |
Het |
Six5 |
T |
C |
7: 18,831,603 (GRCm39) |
L698P |
probably damaging |
Het |
Slc13a4 |
T |
A |
6: 35,251,910 (GRCm39) |
M461L |
probably benign |
Het |
Slc30a9 |
T |
C |
5: 67,507,169 (GRCm39) |
V487A |
probably damaging |
Het |
Tbx21 |
T |
C |
11: 96,990,908 (GRCm39) |
I257V |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,553,731 (GRCm39) |
D382G |
probably benign |
Het |
Trim34b |
C |
A |
7: 103,978,859 (GRCm39) |
C35* |
probably null |
Het |
Usp47 |
A |
G |
7: 111,692,577 (GRCm39) |
D1013G |
probably damaging |
Het |
|
Other mutations in Ppp1r26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01092:Ppp1r26
|
APN |
2 |
28,343,872 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02061:Ppp1r26
|
APN |
2 |
28,340,639 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02399:Ppp1r26
|
APN |
2 |
28,343,292 (GRCm39) |
missense |
probably benign |
|
R0518:Ppp1r26
|
UTSW |
2 |
28,342,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R0763:Ppp1r26
|
UTSW |
2 |
28,340,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R1082:Ppp1r26
|
UTSW |
2 |
28,342,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R1477:Ppp1r26
|
UTSW |
2 |
28,342,800 (GRCm39) |
missense |
probably benign |
0.00 |
R1512:Ppp1r26
|
UTSW |
2 |
28,341,528 (GRCm39) |
missense |
probably benign |
0.01 |
R2157:Ppp1r26
|
UTSW |
2 |
28,342,370 (GRCm39) |
missense |
probably benign |
0.00 |
R2228:Ppp1r26
|
UTSW |
2 |
28,343,798 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2275:Ppp1r26
|
UTSW |
2 |
28,342,713 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3015:Ppp1r26
|
UTSW |
2 |
28,342,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R4402:Ppp1r26
|
UTSW |
2 |
28,341,618 (GRCm39) |
missense |
probably benign |
0.00 |
R4614:Ppp1r26
|
UTSW |
2 |
28,340,860 (GRCm39) |
missense |
probably benign |
0.04 |
R5521:Ppp1r26
|
UTSW |
2 |
28,341,438 (GRCm39) |
missense |
probably benign |
0.27 |
R5873:Ppp1r26
|
UTSW |
2 |
28,341,617 (GRCm39) |
missense |
probably benign |
0.10 |
R5988:Ppp1r26
|
UTSW |
2 |
28,342,566 (GRCm39) |
missense |
probably benign |
0.01 |
R6060:Ppp1r26
|
UTSW |
2 |
28,341,042 (GRCm39) |
missense |
probably benign |
0.00 |
R7007:Ppp1r26
|
UTSW |
2 |
28,341,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R7501:Ppp1r26
|
UTSW |
2 |
28,340,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R8812:Ppp1r26
|
UTSW |
2 |
28,341,192 (GRCm39) |
missense |
probably benign |
0.00 |
R8986:Ppp1r26
|
UTSW |
2 |
28,342,802 (GRCm39) |
nonsense |
probably null |
|
R9213:Ppp1r26
|
UTSW |
2 |
28,343,649 (GRCm39) |
missense |
probably benign |
0.04 |
Z1176:Ppp1r26
|
UTSW |
2 |
28,342,859 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ppp1r26
|
UTSW |
2 |
28,343,492 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Ppp1r26
|
UTSW |
2 |
28,342,880 (GRCm39) |
missense |
probably benign |
0.45 |
Z1177:Ppp1r26
|
UTSW |
2 |
28,340,904 (GRCm39) |
missense |
probably benign |
0.17 |
|
Posted On |
2013-04-17 |