Incidental Mutation 'IGL00790:Ppp1r10'
| ID |
13124 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r10
|
| Ensembl Gene |
ENSMUSG00000039220 |
| Gene Name |
protein phosphatase 1, regulatory subunit 10 |
| Synonyms |
PNUTS, 2610025H06Rik, D17Ertd808e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00790
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36227404-36243175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36235751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 111
(N111I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087210]
[ENSMUST00000087211]
[ENSMUST00000151664]
|
| AlphaFold |
Q80W00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087210
AA Change: N111I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: N111I
| Domain | Start | End | E-Value | Type |
|---|
|
TFS2N
|
74 |
146 |
2.23e-22 |
SMART |
|
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
363 |
N/A |
INTRINSIC |
|
PDB:4MP0|D
|
393 |
433 |
8e-22 |
PDB |
|
low complexity region
|
502 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
853 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
855 |
881 |
5.76e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087211
AA Change: N111I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: N111I
| Domain | Start | End | E-Value | Type |
|---|
|
TFS2N
|
74 |
146 |
2.23e-22 |
SMART |
|
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
363 |
N/A |
INTRINSIC |
|
PDB:4MP0|D
|
393 |
433 |
8e-22 |
PDB |
|
low complexity region
|
502 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
853 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
855 |
881 |
5.76e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151664
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
A |
T |
17: 66,291,175 (GRCm39) |
N1419K |
probably benign |
Het |
| Arhgef18 |
A |
G |
8: 3,479,553 (GRCm39) |
E79G |
probably damaging |
Het |
| Art4 |
T |
A |
6: 136,831,493 (GRCm39) |
Q216L |
probably damaging |
Het |
| Bbs4 |
T |
C |
9: 59,231,348 (GRCm39) |
D407G |
probably benign |
Het |
| Cherp |
A |
G |
8: 73,222,090 (GRCm39) |
I277T |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,342,976 (GRCm39) |
M119T |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,616,759 (GRCm39) |
C73S |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,884,390 (GRCm39) |
S1686P |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,227,953 (GRCm39) |
G468S |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,122,781 (GRCm39) |
D551V |
possibly damaging |
Het |
| Gmip |
T |
A |
8: 70,269,661 (GRCm39) |
Y585* |
probably null |
Het |
| Gnal |
A |
G |
18: 67,267,360 (GRCm39) |
|
probably null |
Het |
| Idh1 |
T |
G |
1: 65,205,281 (GRCm39) |
Q228P |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,938 (GRCm39) |
I2245N |
probably damaging |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,052 (GRCm39) |
M183K |
possibly damaging |
Het |
| Npr2 |
T |
A |
4: 43,641,612 (GRCm39) |
V472D |
possibly damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,806 (GRCm39) |
N787I |
probably damaging |
Het |
| Phf8-ps |
A |
G |
17: 33,286,361 (GRCm39) |
V147A |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,640,942 (GRCm39) |
N508D |
probably benign |
Het |
| Rgs17 |
A |
G |
10: 5,862,624 (GRCm38) |
Q25P |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,348,925 (GRCm39) |
|
probably benign |
Het |
| Tab3 |
T |
A |
X: 84,665,210 (GRCm39) |
N591K |
probably damaging |
Het |
| Tfcp2 |
T |
C |
15: 100,411,059 (GRCm39) |
|
probably benign |
Het |
| Them5 |
A |
T |
3: 94,250,716 (GRCm39) |
D93V |
probably damaging |
Het |
| Thoc5 |
T |
G |
11: 4,868,147 (GRCm39) |
V275G |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,318,463 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
G |
T |
1: 63,345,673 (GRCm39) |
V1351F |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,312 (GRCm39) |
Y224* |
probably null |
Het |
| Zfp606 |
T |
G |
7: 12,228,159 (GRCm39) |
M702R |
probably damaging |
Het |
|
| Other mutations in Ppp1r10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Ppp1r10
|
APN |
17 |
36,240,451 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01144:Ppp1r10
|
APN |
17 |
36,237,456 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01650:Ppp1r10
|
APN |
17 |
36,242,053 (GRCm39) |
missense |
unknown |
|
|
IGL02445:Ppp1r10
|
APN |
17 |
36,237,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02715:Ppp1r10
|
APN |
17 |
36,241,604 (GRCm39) |
missense |
unknown |
|
|
IGL02797:Ppp1r10
|
APN |
17 |
36,238,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03181:Ppp1r10
|
APN |
17 |
36,241,516 (GRCm39) |
nonsense |
probably null |
|
|
R1183:Ppp1r10
|
UTSW |
17 |
36,240,335 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1710:Ppp1r10
|
UTSW |
17 |
36,237,428 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2166:Ppp1r10
|
UTSW |
17 |
36,241,481 (GRCm39) |
missense |
unknown |
|
|
R2865:Ppp1r10
|
UTSW |
17 |
36,239,384 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2898:Ppp1r10
|
UTSW |
17 |
36,239,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3692:Ppp1r10
|
UTSW |
17 |
36,241,760 (GRCm39) |
missense |
unknown |
|
|
R4612:Ppp1r10
|
UTSW |
17 |
36,238,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Ppp1r10
|
UTSW |
17 |
36,240,352 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4796:Ppp1r10
|
UTSW |
17 |
36,234,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Ppp1r10
|
UTSW |
17 |
36,234,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5152:Ppp1r10
|
UTSW |
17 |
36,240,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5186:Ppp1r10
|
UTSW |
17 |
36,239,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Ppp1r10
|
UTSW |
17 |
36,241,324 (GRCm39) |
missense |
unknown |
|
|
R5705:Ppp1r10
|
UTSW |
17 |
36,240,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5847:Ppp1r10
|
UTSW |
17 |
36,237,739 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6912:Ppp1r10
|
UTSW |
17 |
36,240,453 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6974:Ppp1r10
|
UTSW |
17 |
36,240,443 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7169:Ppp1r10
|
UTSW |
17 |
36,240,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7302:Ppp1r10
|
UTSW |
17 |
36,241,773 (GRCm39) |
missense |
unknown |
|
|
R7403:Ppp1r10
|
UTSW |
17 |
36,240,326 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7427:Ppp1r10
|
UTSW |
17 |
36,241,025 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8006:Ppp1r10
|
UTSW |
17 |
36,239,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8850:Ppp1r10
|
UTSW |
17 |
36,239,690 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8944:Ppp1r10
|
UTSW |
17 |
36,241,018 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9497:Ppp1r10
|
UTSW |
17 |
36,235,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9741:Ppp1r10
|
UTSW |
17 |
36,237,331 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1088:Ppp1r10
|
UTSW |
17 |
36,241,659 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation