Incidental Mutation 'R8160:Ppm1h'
| ID |
633478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1h
|
| Ensembl Gene |
ENSMUSG00000034613 |
| Gene Name |
protein phosphatase 1H (PP2C domain containing) |
| Synonyms |
C030002B11Rik, ARHCL1, A430075L18Rik |
| MMRRC Submission |
067586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
122514667-122781700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122638341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 204
(T204S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067918]
[ENSMUST00000161487]
|
| AlphaFold |
Q3UYC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067918
AA Change: T204S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
AA Change: T204S
| 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 |
probably benign
Transcript: ENSMUST00000161487
AA Change: T204S
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124982
Gene: ENSMUSG00000034613
AA Change: T204S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
PP2Cc
|
67 |
455 |
6.36e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.0706 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
C |
T |
7: 133,569,770 (GRCm39) |
|
probably null |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,690 (GRCm39) |
D472G |
possibly damaging |
Het |
| Appl1 |
T |
C |
14: 26,650,592 (GRCm39) |
I527V |
probably benign |
Het |
| Arhgef4 |
C |
A |
1: 34,762,655 (GRCm39) |
T637K |
unknown |
Het |
| Atp7b |
G |
A |
8: 22,487,575 (GRCm39) |
A1273V |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,543 (GRCm39) |
S35T |
|
Het |
| Cdh24 |
C |
A |
14: 54,875,946 (GRCm39) |
V208F |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,178,112 (GRCm39) |
Q1055L |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,124,711 (GRCm39) |
R1009Q |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,644,107 (GRCm39) |
V58E |
probably benign |
Het |
| Fam209 |
A |
T |
2: 172,314,645 (GRCm39) |
I45F |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,043,899 (GRCm39) |
Y579C |
probably null |
Het |
| Hipk4 |
C |
T |
7: 27,223,186 (GRCm39) |
A82V |
possibly damaging |
Het |
| Il17rc |
A |
G |
6: 113,453,489 (GRCm39) |
Y223C |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Kdm5b |
T |
A |
1: 134,541,657 (GRCm39) |
M744K |
probably damaging |
Het |
| Mettl16 |
T |
C |
11: 74,708,505 (GRCm39) |
V568A |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,496,907 (GRCm39) |
Q422* |
probably null |
Het |
| Mvb12b |
G |
T |
2: 33,730,234 (GRCm39) |
D81E |
probably benign |
Het |
| Nostrin |
A |
T |
2: 69,009,810 (GRCm39) |
I313F |
probably damaging |
Het |
| Nsun6 |
A |
G |
2: 15,014,219 (GRCm39) |
|
probably null |
Het |
| Nt5dc1 |
T |
A |
10: 34,200,392 (GRCm39) |
E209V |
possibly damaging |
Het |
| Oasl2 |
T |
C |
5: 115,039,347 (GRCm39) |
|
probably benign |
Het |
| Or10a49 |
C |
T |
7: 108,467,995 (GRCm39) |
R122Q |
possibly damaging |
Het |
| Or6aa1 |
C |
T |
7: 86,044,473 (GRCm39) |
V78M |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,085 (GRCm39) |
|
probably benign |
Het |
| Rad51b |
T |
A |
12: 79,350,115 (GRCm39) |
L70I |
probably benign |
Het |
| Smok3c |
A |
G |
5: 138,063,286 (GRCm39) |
T258A |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
| Spmip7 |
T |
C |
11: 11,437,734 (GRCm39) |
S246P |
unknown |
Het |
| St6galnac1 |
G |
A |
11: 116,666,316 (GRCm39) |
|
probably benign |
Het |
| Tasor |
T |
A |
14: 27,171,913 (GRCm39) |
N420K |
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 |
|
|
IGL01060:Ppm1h
|
APN |
10 |
122,743,476 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTACACAGATCCTCACTTC -3'
(R):5'- AGCAAGGAAGTTTTGGCGC -3'
Sequencing Primer
(F):5'- CCGAAGGCATCTCCTGC -3'
(R):5'- CGCGAGCTACATCAATGGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation