Incidental Mutation 'IGL01557:Ppm1h'
| ID |
90764 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppm1h
|
| Ensembl Gene |
ENSMUSG00000034613 |
| Gene Name |
protein phosphatase 1H (PP2C domain containing) |
| Synonyms |
C030002B11Rik, ARHCL1, A430075L18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
122514667-122781700 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 122618086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067918]
[ENSMUST00000161487]
|
| AlphaFold |
Q3UYC0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067918
|
| SMART Domains |
Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
PP2Cc
|
67 |
504 |
1.22e-35 |
SMART |
|
PP2C_SIG
|
136 |
506 |
1.59e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160315
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161487
|
| SMART Domains |
Protein: ENSMUSP00000124982
Gene: ENSMUSG00000034613
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
PP2Cc
|
67 |
455 |
6.36e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218987
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,101,792 (GRCm39) |
|
probably null |
Het |
| Arl9 |
T |
G |
5: 77,151,948 (GRCm39) |
|
probably null |
Het |
| Ces3a |
C |
A |
8: 105,784,383 (GRCm39) |
T439K |
probably damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,921,711 (GRCm39) |
W408R |
probably damaging |
Het |
| Defb22 |
T |
G |
2: 152,327,999 (GRCm39) |
D62A |
possibly damaging |
Het |
| Dnah17 |
C |
T |
11: 117,964,512 (GRCm39) |
R2422Q |
probably damaging |
Het |
| Ehd3 |
A |
G |
17: 74,112,275 (GRCm39) |
K13R |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,975,221 (GRCm39) |
E1406G |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,732,203 (GRCm39) |
Y762D |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,923,522 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,331,472 (GRCm39) |
E68G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,060,474 (GRCm39) |
T2448A |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,584,192 (GRCm39) |
C317W |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,319,129 (GRCm39) |
S278T |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,890,510 (GRCm39) |
V20A |
probably benign |
Het |
| Nutm1 |
A |
T |
2: 112,082,163 (GRCm39) |
N304K |
probably benign |
Het |
| Or14j8 |
G |
A |
17: 38,263,742 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,100 (GRCm39) |
V698A |
probably damaging |
Het |
| Pitrm1 |
C |
A |
13: 6,602,720 (GRCm39) |
D70E |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,187,203 (GRCm39) |
T3702A |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,731,636 (GRCm39) |
Y411C |
probably damaging |
Het |
| Spon2 |
G |
A |
5: 33,374,047 (GRCm39) |
A112V |
probably damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,426 (GRCm39) |
V195D |
probably benign |
Het |
|
| Other mutations in Ppm1h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Ppm1h
|
APN |
10 |
122,714,534 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01060:Ppm1h
|
APN |
10 |
122,743,476 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01608:Ppm1h
|
APN |
10 |
122,777,185 (GRCm39) |
nonsense |
probably null |
|
|
IGL02112:Ppm1h
|
APN |
10 |
122,638,305 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0129:Ppm1h
|
UTSW |
10 |
122,777,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0217:Ppm1h
|
UTSW |
10 |
122,756,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Ppm1h
|
UTSW |
10 |
122,756,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Ppm1h
|
UTSW |
10 |
122,638,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1144:Ppm1h
|
UTSW |
10 |
122,777,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1430:Ppm1h
|
UTSW |
10 |
122,693,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Ppm1h
|
UTSW |
10 |
122,756,630 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2021:Ppm1h
|
UTSW |
10 |
122,714,433 (GRCm39) |
nonsense |
probably null |
|
|
R2882:Ppm1h
|
UTSW |
10 |
122,777,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3767:Ppm1h
|
UTSW |
10 |
122,740,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Ppm1h
|
UTSW |
10 |
122,740,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Ppm1h
|
UTSW |
10 |
122,740,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Ppm1h
|
UTSW |
10 |
122,515,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4996:Ppm1h
|
UTSW |
10 |
122,777,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Ppm1h
|
UTSW |
10 |
122,618,183 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6199:Ppm1h
|
UTSW |
10 |
122,756,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Ppm1h
|
UTSW |
10 |
122,740,018 (GRCm39) |
missense |
probably benign |
|
|
R7991:Ppm1h
|
UTSW |
10 |
122,618,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8160:Ppm1h
|
UTSW |
10 |
122,638,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8300:Ppm1h
|
UTSW |
10 |
122,618,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8906:Ppm1h
|
UTSW |
10 |
122,714,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Ppm1h
|
UTSW |
10 |
122,638,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9459:Ppm1h
|
UTSW |
10 |
122,743,482 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9755:Ppm1h
|
UTSW |
10 |
122,638,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation