Incidental Mutation 'IGL00161:Ptpdc1'
| ID |
1028 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptpdc1
|
| Ensembl Gene |
ENSMUSG00000038042 |
| Gene Name |
protein tyrosine phosphatase domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
48731348-48779140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 48740534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 238
(R238Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035824]
[ENSMUST00000222028]
[ENSMUST00000223025]
|
| AlphaFold |
Q6NZK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035824
AA Change: R238Q
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: R238Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
102 |
243 |
1.1e-13 |
PFAM |
|
Pfam:Y_phosphatase
|
144 |
242 |
8.9e-10 |
PFAM |
|
low complexity region
|
598 |
610 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221887
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222028
AA Change: R299Q
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223025
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a centrosomal mitotic phosphatase. This protein has been implicated in centrosomal duplication and cytokinesis. In addition, knockdown of expression levels in non-cycling cells results in extra long cilia, suggesting that this protein may function in regulating cilia length independent of a function in cell cycle control. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,375,719 (GRCm39) |
V1932E |
probably damaging |
Het |
| Alg3 |
A |
G |
16: 20,426,608 (GRCm39) |
V211A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,992,309 (GRCm39) |
T1148A |
probably benign |
Het |
| Dmbt1 |
G |
T |
7: 130,711,357 (GRCm39) |
D1538Y |
probably damaging |
Het |
| Fbxl20 |
C |
T |
11: 97,981,500 (GRCm39) |
G396D |
possibly damaging |
Het |
| Gsto2 |
A |
G |
19: 47,863,406 (GRCm39) |
D94G |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,932,877 (GRCm39) |
I882V |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,617,147 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
C |
11: 71,072,007 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,088 (GRCm39) |
C272* |
probably null |
Het |
| Or4c123 |
A |
G |
2: 89,126,799 (GRCm39) |
C272R |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,096,388 (GRCm39) |
K305E |
possibly damaging |
Het |
| Pard3 |
A |
G |
8: 128,086,299 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
A |
G |
10: 80,158,657 (GRCm39) |
Y532H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,879,353 (GRCm39) |
|
probably null |
Het |
| Potefam3e |
T |
C |
8: 19,799,499 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,321 (GRCm39) |
Y140H |
probably damaging |
Het |
| Rdx |
A |
G |
9: 51,997,646 (GRCm39) |
D540G |
probably damaging |
Het |
| Rnase10 |
T |
G |
14: 51,247,238 (GRCm39) |
D168E |
possibly damaging |
Het |
| Slc30a5 |
A |
C |
13: 100,943,174 (GRCm39) |
D561E |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,195,562 (GRCm39) |
R252* |
probably null |
Het |
| Spata31g1 |
A |
T |
4: 42,973,982 (GRCm39) |
H1105L |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,503,692 (GRCm39) |
E121G |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,384,663 (GRCm39) |
M558V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,097,726 (GRCm39) |
|
probably benign |
Het |
| Vmn1r64 |
T |
C |
7: 5,886,827 (GRCm39) |
T239A |
probably damaging |
Het |
|
| Other mutations in Ptpdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Ptpdc1
|
APN |
13 |
48,740,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02931:Ptpdc1
|
APN |
13 |
48,744,095 (GRCm39) |
splice site |
probably benign |
|
|
IGL03180:Ptpdc1
|
APN |
13 |
48,739,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4519001:Ptpdc1
|
UTSW |
13 |
48,736,632 (GRCm39) |
missense |
probably benign |
0.29 |
|
PIT4687001:Ptpdc1
|
UTSW |
13 |
48,739,766 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0014:Ptpdc1
|
UTSW |
13 |
48,740,395 (GRCm39) |
nonsense |
probably null |
|
|
R0244:Ptpdc1
|
UTSW |
13 |
48,739,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0420:Ptpdc1
|
UTSW |
13 |
48,742,595 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0690:Ptpdc1
|
UTSW |
13 |
48,740,381 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0946:Ptpdc1
|
UTSW |
13 |
48,740,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1076:Ptpdc1
|
UTSW |
13 |
48,740,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Ptpdc1
|
UTSW |
13 |
48,739,796 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1459:Ptpdc1
|
UTSW |
13 |
48,740,173 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1688:Ptpdc1
|
UTSW |
13 |
48,739,700 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1732:Ptpdc1
|
UTSW |
13 |
48,740,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2097:Ptpdc1
|
UTSW |
13 |
48,746,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2570:Ptpdc1
|
UTSW |
13 |
48,739,539 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3950:Ptpdc1
|
UTSW |
13 |
48,742,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4260:Ptpdc1
|
UTSW |
13 |
48,733,234 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5194:Ptpdc1
|
UTSW |
13 |
48,740,265 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5271:Ptpdc1
|
UTSW |
13 |
48,744,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Ptpdc1
|
UTSW |
13 |
48,743,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Ptpdc1
|
UTSW |
13 |
48,739,845 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6894:Ptpdc1
|
UTSW |
13 |
48,744,114 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7056:Ptpdc1
|
UTSW |
13 |
48,740,466 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7436:Ptpdc1
|
UTSW |
13 |
48,740,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7719:Ptpdc1
|
UTSW |
13 |
48,739,766 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7827:Ptpdc1
|
UTSW |
13 |
48,733,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7969:Ptpdc1
|
UTSW |
13 |
48,740,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7986:Ptpdc1
|
UTSW |
13 |
48,746,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8330:Ptpdc1
|
UTSW |
13 |
48,751,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8500:Ptpdc1
|
UTSW |
13 |
48,739,759 (GRCm39) |
nonsense |
probably null |
|
|
R8687:Ptpdc1
|
UTSW |
13 |
48,740,136 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8874:Ptpdc1
|
UTSW |
13 |
48,744,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Ptpdc1
|
UTSW |
13 |
48,739,655 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9284:Ptpdc1
|
UTSW |
13 |
48,740,167 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9290:Ptpdc1
|
UTSW |
13 |
48,740,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9309:Ptpdc1
|
UTSW |
13 |
48,736,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9359:Ptpdc1
|
UTSW |
13 |
48,740,030 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9369:Ptpdc1
|
UTSW |
13 |
48,736,722 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9661:Ptpdc1
|
UTSW |
13 |
48,739,610 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Posted On |
2011-07-12 |
Incidental Mutation