Incidental Mutation 'IGL01981:Cdkl3'
ID |
183499 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdkl3
|
Ensembl Gene |
ENSMUSG00000020389 |
Gene Name |
cyclin dependent kinase like 3 |
Synonyms |
B230379H01Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.863)
|
Stock # |
IGL01981
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
51895048-51980611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51895896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 48
(T48A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112477
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020657]
[ENSMUST00000063303]
[ENSMUST00000063321]
[ENSMUST00000109076]
[ENSMUST00000109077]
[ENSMUST00000109078]
[ENSMUST00000120374]
[ENSMUST00000109080]
[ENSMUST00000109081]
[ENSMUST00000121591]
[ENSMUST00000143228]
[ENSMUST00000109079]
[ENSMUST00000135076]
[ENSMUST00000109086]
|
AlphaFold |
Q8BLF2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020657
|
SMART Domains |
Protein: ENSMUSP00000020657 Gene: ENSMUSG00000020390
Domain | Start | End | E-Value | Type |
UBCc
|
7 |
150 |
3.01e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063303
AA Change: T48A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000064315 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063321
AA Change: T48A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000065128 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
Blast:S_TKc
|
361 |
477 |
9e-19 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109076
AA Change: T48A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104704 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109077
AA Change: T48A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104705 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109078
AA Change: T48A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104706 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
Blast:S_TKc
|
361 |
457 |
8e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120374
AA Change: T48A
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000113303 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109080
AA Change: T48A
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000104708 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109081
AA Change: T48A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104709 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121591
AA Change: T48A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112477 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143228
AA Change: T48A
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000123279 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109079
AA Change: T48A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104707 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
Blast:S_TKc
|
361 |
477 |
9e-19 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135076
AA Change: T48A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000117983 Gene: ENSMUSG00000020389 AA Change: T48A
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
4 |
192 |
5.6e-65 |
PFAM |
Pfam:Pkinase_Tyr
|
4 |
192 |
7.3e-37 |
PFAM |
Pfam:Kinase-like
|
49 |
192 |
3.2e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124699
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181262
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147412
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109086
|
SMART Domains |
Protein: ENSMUSP00000104714 Gene: ENSMUSG00000020390
Domain | Start | End | E-Value | Type |
UBCc
|
7 |
150 |
3.01e-72 |
SMART |
|
Coding Region Coverage |
|
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 is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
A |
C |
7: 27,337,499 (GRCm39) |
D417A |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,969,336 (GRCm39) |
S231T |
possibly damaging |
Het |
Arhgap31 |
G |
A |
16: 38,421,935 (GRCm39) |
T1377I |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,251,501 (GRCm39) |
Y510C |
probably damaging |
Het |
Chml |
A |
G |
1: 175,515,751 (GRCm39) |
S57P |
probably damaging |
Het |
Cpxm1 |
G |
T |
2: 130,236,060 (GRCm39) |
C367* |
probably null |
Het |
D930020B18Rik |
A |
G |
10: 121,528,319 (GRCm39) |
T428A |
probably damaging |
Het |
Dnaja3 |
A |
T |
16: 4,519,033 (GRCm39) |
I325F |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
Erbb3 |
A |
G |
10: 128,407,519 (GRCm39) |
V943A |
probably benign |
Het |
Fam110b |
A |
G |
4: 5,799,481 (GRCm39) |
I300V |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,588,537 (GRCm39) |
E76G |
probably damaging |
Het |
Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
Furin |
A |
G |
7: 80,042,647 (GRCm39) |
L380P |
probably damaging |
Het |
Fxr2 |
A |
C |
11: 69,541,328 (GRCm39) |
I354L |
possibly damaging |
Het |
Garnl3 |
G |
T |
2: 32,887,741 (GRCm39) |
N756K |
probably damaging |
Het |
Gimap1 |
A |
G |
6: 48,720,258 (GRCm39) |
Y290C |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,935,795 (GRCm39) |
W99* |
probably null |
Het |
Hexd |
G |
T |
11: 121,107,819 (GRCm39) |
S183I |
possibly damaging |
Het |
Hmg20a |
C |
T |
9: 56,384,514 (GRCm39) |
P95S |
probably damaging |
Het |
Jhy |
A |
T |
9: 40,806,842 (GRCm39) |
I769N |
probably damaging |
Het |
Lrrd1 |
G |
T |
5: 3,901,267 (GRCm39) |
C524F |
probably damaging |
Het |
Musk |
C |
A |
4: 58,296,629 (GRCm39) |
S76R |
probably damaging |
Het |
Myom3 |
C |
T |
4: 135,513,160 (GRCm39) |
R613* |
probably null |
Het |
Naa16 |
T |
A |
14: 79,618,956 (GRCm39) |
E172D |
probably benign |
Het |
Obox6 |
A |
T |
7: 15,568,846 (GRCm39) |
M10K |
possibly damaging |
Het |
Or5al5 |
A |
T |
2: 85,961,174 (GRCm39) |
Y278N |
probably benign |
Het |
Pam |
C |
T |
1: 97,762,166 (GRCm39) |
V700M |
probably damaging |
Het |
Phf8-ps |
C |
T |
17: 33,286,628 (GRCm39) |
G58E |
probably damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,743,655 (GRCm39) |
R1978L |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,593,791 (GRCm39) |
T1441S |
possibly damaging |
Het |
Plg |
A |
G |
17: 12,621,934 (GRCm39) |
|
probably benign |
Het |
Pot1a |
A |
G |
6: 25,750,099 (GRCm39) |
L521P |
probably damaging |
Het |
Pramel14 |
G |
A |
4: 143,720,924 (GRCm39) |
P6S |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,270,256 (GRCm39) |
V1280E |
probably damaging |
Het |
Rcbtb2 |
T |
C |
14: 73,402,222 (GRCm39) |
S136P |
possibly damaging |
Het |
Rtl1 |
C |
T |
12: 109,558,369 (GRCm39) |
E1157K |
possibly damaging |
Het |
Sell |
G |
A |
1: 163,893,195 (GRCm39) |
R137Q |
probably benign |
Het |
Shisa9 |
A |
T |
16: 12,062,522 (GRCm39) |
M248L |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,966,149 (GRCm39) |
E1144G |
probably benign |
Het |
Sphk2 |
G |
T |
7: 45,360,157 (GRCm39) |
Q616K |
probably benign |
Het |
Tecrl |
T |
C |
5: 83,442,453 (GRCm39) |
T207A |
probably benign |
Het |
Ubr5 |
T |
C |
15: 37,996,842 (GRCm39) |
T1885A |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,232,965 (GRCm39) |
|
probably benign |
Het |
Usp32 |
A |
G |
11: 84,927,350 (GRCm39) |
M622T |
probably benign |
Het |
Vangl1 |
A |
G |
3: 102,091,607 (GRCm39) |
F160L |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,813,317 (GRCm39) |
S3289G |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,855,673 (GRCm39) |
F647S |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,498,907 (GRCm39) |
L509P |
probably damaging |
Het |
Zcchc2 |
A |
G |
1: 105,955,229 (GRCm39) |
E640G |
probably damaging |
Het |
Zfp563 |
T |
A |
17: 33,324,383 (GRCm39) |
I326N |
probably benign |
Het |
|
Other mutations in Cdkl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00425:Cdkl3
|
APN |
11 |
51,920,683 (GRCm39) |
missense |
probably benign |
0.28 |
IGL01632:Cdkl3
|
APN |
11 |
51,895,899 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01768:Cdkl3
|
APN |
11 |
51,916,744 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01974:Cdkl3
|
APN |
11 |
51,902,064 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02510:Cdkl3
|
APN |
11 |
51,902,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R0027:Cdkl3
|
UTSW |
11 |
51,923,176 (GRCm39) |
unclassified |
probably benign |
|
R0027:Cdkl3
|
UTSW |
11 |
51,923,176 (GRCm39) |
unclassified |
probably benign |
|
R0480:Cdkl3
|
UTSW |
11 |
51,895,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R0499:Cdkl3
|
UTSW |
11 |
51,923,243 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0627:Cdkl3
|
UTSW |
11 |
51,902,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R0848:Cdkl3
|
UTSW |
11 |
51,902,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R1510:Cdkl3
|
UTSW |
11 |
51,924,341 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1558:Cdkl3
|
UTSW |
11 |
51,923,337 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2046:Cdkl3
|
UTSW |
11 |
51,917,677 (GRCm39) |
missense |
probably benign |
|
R2077:Cdkl3
|
UTSW |
11 |
51,917,666 (GRCm39) |
missense |
probably damaging |
0.98 |
R2207:Cdkl3
|
UTSW |
11 |
51,918,020 (GRCm39) |
makesense |
probably null |
|
R2271:Cdkl3
|
UTSW |
11 |
51,923,322 (GRCm39) |
missense |
probably benign |
0.07 |
R2272:Cdkl3
|
UTSW |
11 |
51,923,322 (GRCm39) |
missense |
probably benign |
0.07 |
R4032:Cdkl3
|
UTSW |
11 |
51,902,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:Cdkl3
|
UTSW |
11 |
51,895,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R4971:Cdkl3
|
UTSW |
11 |
51,901,995 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6541:Cdkl3
|
UTSW |
11 |
51,913,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R6559:Cdkl3
|
UTSW |
11 |
51,916,696 (GRCm39) |
missense |
probably benign |
0.04 |
R7034:Cdkl3
|
UTSW |
11 |
51,918,042 (GRCm39) |
missense |
probably benign |
0.00 |
R7068:Cdkl3
|
UTSW |
11 |
51,902,154 (GRCm39) |
critical splice donor site |
probably null |
|
R7406:Cdkl3
|
UTSW |
11 |
51,924,369 (GRCm39) |
missense |
probably benign |
0.11 |
R7658:Cdkl3
|
UTSW |
11 |
51,918,009 (GRCm39) |
missense |
not run |
|
R7870:Cdkl3
|
UTSW |
11 |
51,909,284 (GRCm39) |
critical splice donor site |
probably null |
|
R8324:Cdkl3
|
UTSW |
11 |
51,913,706 (GRCm39) |
critical splice donor site |
probably null |
|
R8331:Cdkl3
|
UTSW |
11 |
51,917,704 (GRCm39) |
missense |
probably benign |
0.04 |
R8349:Cdkl3
|
UTSW |
11 |
51,975,260 (GRCm39) |
missense |
|
|
R8449:Cdkl3
|
UTSW |
11 |
51,975,260 (GRCm39) |
missense |
|
|
R8806:Cdkl3
|
UTSW |
11 |
51,923,295 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9262:Cdkl3
|
UTSW |
11 |
51,916,702 (GRCm39) |
missense |
probably benign |
0.21 |
R9360:Cdkl3
|
UTSW |
11 |
51,924,349 (GRCm39) |
missense |
probably null |
0.00 |
R9385:Cdkl3
|
UTSW |
11 |
51,926,779 (GRCm39) |
missense |
probably benign |
0.01 |
R9623:Cdkl3
|
UTSW |
11 |
51,895,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R9729:Cdkl3
|
UTSW |
11 |
51,895,770 (GRCm39) |
missense |
probably benign |
0.44 |
|
Posted On |
2014-05-07 |