Incidental Mutation 'IGL03187:Cdkl2'
| ID |
412505 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdkl2
|
| Ensembl Gene |
ENSMUSG00000029403 |
| Gene Name |
cyclin dependent kinase like 2 |
| Synonyms |
KKIAMRE, 5330436L21Rik, Kkm |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03187
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92153933-92191742 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 92165239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069937]
[ENSMUST00000086978]
[ENSMUST00000113140]
[ENSMUST00000113143]
|
| AlphaFold |
Q9QUK0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069937
|
| SMART Domains |
Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086978
|
| SMART Domains |
Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113140
|
| SMART Domains |
Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113143
|
| SMART Domains |
Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201357
|
| 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 product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbx |
G |
A |
16: 50,094,926 (GRCm39) |
T130I |
probably damaging |
Het |
| Clrn1 |
A |
G |
3: 58,753,854 (GRCm39) |
V169A |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,408,463 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
A |
C |
19: 55,219,484 (GRCm39) |
I379M |
possibly damaging |
Het |
| Hps5 |
A |
T |
7: 46,422,631 (GRCm39) |
L533Q |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,765,062 (GRCm39) |
K749N |
probably damaging |
Het |
| Krt6b |
G |
T |
15: 101,588,392 (GRCm39) |
F89L |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,097,351 (GRCm39) |
F439L |
possibly damaging |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Nhej1 |
A |
G |
1: 75,007,420 (GRCm39) |
S111P |
possibly damaging |
Het |
| Or4k1 |
G |
T |
14: 50,377,257 (GRCm39) |
P280T |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,191,706 (GRCm39) |
V601M |
probably damaging |
Het |
| Ripor3 |
A |
G |
2: 167,827,588 (GRCm39) |
V621A |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,650,224 (GRCm39) |
N732S |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,284,327 (GRCm39) |
E170K |
possibly damaging |
Het |
| Syde1 |
A |
T |
10: 78,424,943 (GRCm39) |
I356N |
possibly damaging |
Het |
| Tex2 |
C |
T |
11: 106,458,903 (GRCm39) |
|
probably benign |
Het |
| Vmn2r50 |
T |
G |
7: 9,771,368 (GRCm39) |
T778P |
probably damaging |
Het |
| Zfp709 |
T |
G |
8: 72,643,126 (GRCm39) |
I184S |
probably benign |
Het |
|
| Other mutations in Cdkl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Cdkl2
|
APN |
5 |
92,165,236 (GRCm39) |
splice site |
probably null |
|
|
IGL02481:Cdkl2
|
APN |
5 |
92,185,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Cdkl2
|
APN |
5 |
92,185,103 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03251:Cdkl2
|
APN |
5 |
92,181,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Cdkl2
|
UTSW |
5 |
92,168,171 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0616:Cdkl2
|
UTSW |
5 |
92,156,863 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0764:Cdkl2
|
UTSW |
5 |
92,168,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1023:Cdkl2
|
UTSW |
5 |
92,187,145 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2338:Cdkl2
|
UTSW |
5 |
92,181,538 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2497:Cdkl2
|
UTSW |
5 |
92,156,857 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3926:Cdkl2
|
UTSW |
5 |
92,180,998 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4444:Cdkl2
|
UTSW |
5 |
92,168,168 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4445:Cdkl2
|
UTSW |
5 |
92,168,168 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4446:Cdkl2
|
UTSW |
5 |
92,168,168 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4647:Cdkl2
|
UTSW |
5 |
92,165,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4664:Cdkl2
|
UTSW |
5 |
92,185,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5478:Cdkl2
|
UTSW |
5 |
92,187,108 (GRCm39) |
nonsense |
probably null |
|
|
R5636:Cdkl2
|
UTSW |
5 |
92,181,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6446:Cdkl2
|
UTSW |
5 |
92,181,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Cdkl2
|
UTSW |
5 |
92,181,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7096:Cdkl2
|
UTSW |
5 |
92,181,043 (GRCm39) |
nonsense |
probably null |
|
|
R7388:Cdkl2
|
UTSW |
5 |
92,167,318 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8871:Cdkl2
|
UTSW |
5 |
92,164,989 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8993:Cdkl2
|
UTSW |
5 |
92,170,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9323:Cdkl2
|
UTSW |
5 |
92,168,107 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9768:Cdkl2
|
UTSW |
5 |
92,165,244 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation