Incidental Mutation 'IGL03251:Cdkl2'
ID |
414928 |
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 # |
IGL03251
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
92153933-92191742 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92181585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 132
(I132T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069937]
[ENSMUST00000086978]
[ENSMUST00000113140]
[ENSMUST00000113143]
|
AlphaFold |
Q9QUK0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069937
AA Change: I132T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000063617 Gene: ENSMUSG00000029403 AA Change: I132T
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086978
AA Change: I132T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000084199 Gene: ENSMUSG00000029403 AA Change: I132T
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113140
AA Change: I132T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108765 Gene: ENSMUSG00000029403 AA Change: I132T
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113143
AA Change: I132T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108768 Gene: ENSMUSG00000029403 AA Change: I132T
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,631,661 (GRCm39) |
|
probably benign |
Het |
Ckap4 |
A |
T |
10: 84,364,469 (GRCm39) |
I198N |
probably damaging |
Het |
Col6a3 |
C |
T |
1: 90,737,898 (GRCm39) |
R600H |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,686,433 (GRCm39) |
I239T |
probably benign |
Het |
Ei24 |
A |
G |
9: 36,691,405 (GRCm39) |
*359R |
probably null |
Het |
Elk3 |
A |
T |
10: 93,090,683 (GRCm39) |
|
probably null |
Het |
Eps8l2 |
T |
A |
7: 140,922,875 (GRCm39) |
M46K |
probably damaging |
Het |
Frem2 |
G |
T |
3: 53,479,729 (GRCm39) |
T1988N |
probably benign |
Het |
Gm5431 |
T |
C |
11: 48,785,548 (GRCm39) |
K276E |
probably benign |
Het |
Gm8220 |
T |
A |
14: 44,525,729 (GRCm39) |
C133S |
possibly damaging |
Het |
Hectd2 |
T |
C |
19: 36,562,926 (GRCm39) |
L168P |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,217,228 (GRCm39) |
D1372V |
probably damaging |
Het |
Isl1 |
T |
C |
13: 116,441,985 (GRCm39) |
S83G |
probably benign |
Het |
Lrp1b |
A |
G |
2: 40,490,279 (GRCm39) |
I107T |
probably benign |
Het |
Mlc1 |
A |
T |
15: 88,858,934 (GRCm39) |
V117D |
possibly damaging |
Het |
Ndc1 |
A |
G |
4: 107,237,856 (GRCm39) |
E220G |
possibly damaging |
Het |
Nlrp4b |
T |
A |
7: 10,448,427 (GRCm39) |
M210K |
probably benign |
Het |
Or2z8 |
A |
T |
8: 72,811,920 (GRCm39) |
Y132F |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,691,423 (GRCm39) |
E60G |
possibly damaging |
Het |
Pld1 |
G |
A |
3: 28,142,814 (GRCm39) |
R674H |
probably benign |
Het |
Ppp1r13l |
G |
A |
7: 19,102,794 (GRCm39) |
|
probably benign |
Het |
Ppp2cb |
A |
T |
8: 34,100,679 (GRCm39) |
|
probably benign |
Het |
Rchy1 |
G |
T |
5: 92,110,502 (GRCm39) |
A26D |
probably benign |
Het |
Rrm1 |
T |
C |
7: 102,106,413 (GRCm39) |
F311L |
probably damaging |
Het |
Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
Slc24a4 |
T |
C |
12: 102,189,084 (GRCm39) |
L173P |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
Tube1 |
T |
A |
10: 39,010,977 (GRCm39) |
|
probably benign |
Het |
Utp20 |
C |
T |
10: 88,653,188 (GRCm39) |
|
probably null |
Het |
Vmn2r55 |
T |
C |
7: 12,405,120 (GRCm39) |
|
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 |
IGL03187:Cdkl2
|
APN |
5 |
92,165,239 (GRCm39) |
critical splice donor site |
probably null |
|
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 |