Incidental Mutation 'E0374:Cdkn3'
| ID |
233325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdkn3
|
| Ensembl Gene |
ENSMUSG00000037628 |
| Gene Name |
cyclin dependent kinase inhibitor 3 |
| Synonyms |
2410006H10Rik, KAP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
E0374 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
46997912-47008987 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 47004630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067426]
[ENSMUST00000227149]
[ENSMUST00000228106]
|
| AlphaFold |
Q810P3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067426
|
| SMART Domains |
Protein: ENSMUSP00000070575
Gene: ENSMUSG00000037628
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc_DSPc
|
7 |
197 |
2.8e-3 |
SMART |
|
low complexity region
|
199 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226621
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227149
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228106
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxr1 |
A |
G |
6: 87,232,861 (GRCm39) |
S234P |
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,098,656 (GRCm39) |
V307A |
probably damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,284 (GRCm39) |
V163A |
probably damaging |
Het |
| Chst13 |
C |
A |
6: 90,286,174 (GRCm39) |
E263* |
probably null |
Het |
| Dctn1 |
T |
A |
6: 83,171,156 (GRCm39) |
C754S |
possibly damaging |
Het |
| Dlgap4 |
T |
G |
2: 156,603,763 (GRCm39) |
I185S |
probably damaging |
Het |
| Heca |
T |
A |
10: 17,783,924 (GRCm39) |
H443L |
probably damaging |
Het |
| Klkb1 |
C |
T |
8: 45,742,128 (GRCm39) |
M50I |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,337,929 (GRCm39) |
Y414C |
probably damaging |
Het |
| Maff |
C |
A |
15: 79,241,875 (GRCm39) |
N97K |
probably damaging |
Het |
| Map1s |
T |
A |
8: 71,358,661 (GRCm39) |
|
probably benign |
Het |
| Mfsd10 |
A |
T |
5: 34,793,981 (GRCm39) |
|
probably null |
Het |
| Nfam1 |
T |
G |
15: 82,900,611 (GRCm39) |
I124L |
probably benign |
Het |
| Omg |
T |
G |
11: 79,393,775 (GRCm39) |
I28L |
probably benign |
Het |
| Pfkm |
A |
T |
15: 98,021,114 (GRCm39) |
I311F |
probably damaging |
Het |
| Sap30 |
T |
A |
8: 57,938,095 (GRCm39) |
N174I |
probably damaging |
Het |
| Sdc1 |
T |
A |
12: 8,839,424 (GRCm39) |
N28K |
probably damaging |
Het |
| Trabd2b |
T |
G |
4: 114,457,094 (GRCm39) |
V337G |
probably damaging |
Het |
|
| Other mutations in Cdkn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0033:Cdkn3
|
UTSW |
14 |
47,006,329 (GRCm39) |
nonsense |
probably null |
|
|
R0033:Cdkn3
|
UTSW |
14 |
47,006,329 (GRCm39) |
nonsense |
probably null |
|
|
R0445:Cdkn3
|
UTSW |
14 |
47,004,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1912:Cdkn3
|
UTSW |
14 |
47,007,291 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3176:Cdkn3
|
UTSW |
14 |
47,008,934 (GRCm39) |
unclassified |
probably benign |
|
|
R3276:Cdkn3
|
UTSW |
14 |
47,008,934 (GRCm39) |
unclassified |
probably benign |
|
|
R4941:Cdkn3
|
UTSW |
14 |
47,007,320 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5344:Cdkn3
|
UTSW |
14 |
47,004,807 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5964:Cdkn3
|
UTSW |
14 |
47,004,674 (GRCm39) |
missense |
probably null |
1.00 |
|
R6039:Cdkn3
|
UTSW |
14 |
47,007,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Cdkn3
|
UTSW |
14 |
47,007,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Cdkn3
|
UTSW |
14 |
47,004,647 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7234:Cdkn3
|
UTSW |
14 |
47,008,918 (GRCm39) |
missense |
unknown |
|
|
R8083:Cdkn3
|
UTSW |
14 |
47,000,058 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8314:Cdkn3
|
UTSW |
14 |
47,007,330 (GRCm39) |
synonymous |
silent |
|
|
R8948:Cdkn3
|
UTSW |
14 |
47,004,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCACCAATCAATCTGGTTTAGTTC -3'
(R):5'- TACCCAGGGAAGAACGTACTG -3'
Sequencing Primer
(F):5'- AGTTCTAATCAGCTTTTGTTCCAGG -3'
(R):5'- AGAACGTACTGTATCAGGGTTTTCC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation