Incidental Mutation 'IGL01060:Ppm1h'
ID |
52027 |
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 # |
IGL01060
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
122514667-122781700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122743476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 400
(D400G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067918]
[ENSMUST00000161487]
[ENSMUST00000162969]
|
AlphaFold |
Q3UYC0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067918
AA Change: D400G
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000066561 Gene: ENSMUSG00000034613 AA Change: D400G
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: ENSMUST00000161065
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161487
AA Change: D400G
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124982 Gene: ENSMUSG00000034613 AA Change: D400G
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
PP2Cc
|
67 |
455 |
6.36e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162969
AA Change: D19G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000124006 Gene: ENSMUSG00000034613 AA Change: D19G
Domain | Start | End | E-Value | Type |
Pfam:PP2C
|
2 |
99 |
2.9e-14 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Anks4b |
A |
G |
7: 119,773,148 (GRCm39) |
T3A |
possibly damaging |
Het |
Arhgef26 |
T |
A |
3: 62,247,542 (GRCm39) |
S209T |
probably benign |
Het |
Ccdc78 |
A |
G |
17: 26,007,806 (GRCm39) |
D281G |
probably damaging |
Het |
Ccnb3 |
A |
T |
X: 6,846,513 (GRCm39) |
N1362K |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,368,918 (GRCm39) |
N1662S |
possibly damaging |
Het |
Elp1 |
C |
T |
4: 56,784,537 (GRCm39) |
|
probably null |
Het |
Ern2 |
T |
A |
7: 121,769,315 (GRCm39) |
R904W |
probably damaging |
Het |
Fam120c |
C |
T |
X: 150,252,583 (GRCm39) |
P1045S |
probably benign |
Het |
Gm12887 |
C |
T |
4: 121,473,610 (GRCm39) |
|
probably benign |
Het |
Gpld1 |
G |
A |
13: 25,166,549 (GRCm39) |
G627S |
probably damaging |
Het |
Krt77 |
T |
A |
15: 101,769,315 (GRCm39) |
|
probably benign |
Het |
Ltf |
A |
T |
9: 110,851,950 (GRCm39) |
|
probably null |
Het |
Map3k6 |
G |
T |
4: 132,974,613 (GRCm39) |
|
probably null |
Het |
Nsd1 |
G |
A |
13: 55,411,242 (GRCm39) |
G1431D |
probably damaging |
Het |
Plekhm2 |
C |
T |
4: 141,369,956 (GRCm39) |
|
probably null |
Het |
Popdc2 |
T |
A |
16: 38,194,327 (GRCm39) |
N249K |
probably damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,588,181 (GRCm39) |
S320T |
probably damaging |
Het |
Rsph6a |
C |
T |
7: 18,788,793 (GRCm39) |
R42* |
probably null |
Het |
Sap130 |
T |
C |
18: 31,848,496 (GRCm39) |
L967P |
probably damaging |
Het |
Smyd2 |
T |
C |
1: 189,629,667 (GRCm39) |
E121G |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,426,413 (GRCm39) |
W144* |
probably null |
Het |
Taar6 |
A |
G |
10: 23,860,970 (GRCm39) |
V192A |
probably benign |
Het |
Tbc1d24 |
A |
T |
17: 24,404,802 (GRCm39) |
V114E |
probably damaging |
Het |
Trim16 |
T |
C |
11: 62,711,530 (GRCm39) |
I67T |
probably benign |
Het |
Ttll7 |
A |
G |
3: 146,615,337 (GRCm39) |
D267G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,720,073 (GRCm39) |
|
probably benign |
Het |
Vmn2r56 |
T |
A |
7: 12,447,016 (GRCm39) |
I379F |
probably damaging |
Het |
Zfp14 |
T |
C |
7: 29,737,510 (GRCm39) |
T492A |
probably damaging |
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 |
|
IGL01557:Ppm1h
|
APN |
10 |
122,618,086 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
2013-06-21 |