Incidental Mutation 'IGL02506:Clk3'
ID 296348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clk3
Ensembl Gene ENSMUSG00000032316
Gene Name CDC-like kinase 3
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.500) question?
Stock # IGL02506
Quality Score
Status
Chromosome 9
Chromosomal Location 57657904-57672397 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 57661927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 31 (W31*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043990] [ENSMUST00000065330] [ENSMUST00000137245]
AlphaFold O35492
Predicted Effect probably benign
Transcript: ENSMUST00000043990
SMART Domains Protein: ENSMUSP00000049146
Gene: ENSMUSG00000038957

DomainStartEndE-ValueType
LSM14 1 80 9.12e-20 SMART
Pfam:Edc3_linker 102 197 1.9e-47 PFAM
FDF 198 301 1.84e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000065330
AA Change: W373*
SMART Domains Protein: ENSMUSP00000067341
Gene: ENSMUSG00000032316
AA Change: W373*

DomainStartEndE-ValueType
low complexity region 57 73 N/A INTRINSIC
low complexity region 122 147 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
low complexity region 181 199 N/A INTRINSIC
low complexity region 234 252 N/A INTRINSIC
low complexity region 261 283 N/A INTRINSIC
S_TKc 304 620 5.56e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137245
SMART Domains Protein: ENSMUSP00000123317
Gene: ENSMUSG00000038957

DomainStartEndE-ValueType
Pfam:LSM14 1 56 3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215109
Predicted Effect probably null
Transcript: ENSMUST00000215233
AA Change: W238*
Predicted Effect probably null
Transcript: ENSMUST00000215333
AA Change: W31*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216095
Predicted Effect probably benign
Transcript: ENSMUST00000217409
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 encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,916 (GRCm39) E189G possibly damaging Het
Acad11 T C 9: 103,968,931 (GRCm39) probably null Het
Adcy7 G T 8: 89,044,571 (GRCm39) R488L probably damaging Het
Akt1 C T 12: 112,625,714 (GRCm39) probably benign Het
Ano9 C T 7: 140,682,167 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,953,820 (GRCm39) D182G possibly damaging Het
Asxl3 T A 18: 22,585,456 (GRCm39) V127D probably benign Het
Cacna1g A G 11: 94,319,955 (GRCm39) M1407T probably damaging Het
Card9 A C 2: 26,244,427 (GRCm39) probably benign Het
Cdh5 A G 8: 104,864,454 (GRCm39) N472D probably damaging Het
Ceacam2 T A 7: 25,227,379 (GRCm39) T343S probably benign Het
Cic T A 7: 24,990,282 (GRCm39) C1928S probably benign Het
Cntn4 A G 6: 106,595,349 (GRCm39) T489A probably benign Het
Crispld1 G A 1: 17,826,529 (GRCm39) R431H probably damaging Het
Crmp1 T A 5: 37,436,199 (GRCm39) probably benign Het
Cyld A G 8: 89,456,218 (GRCm39) T423A possibly damaging Het
Cyp3a44 A T 5: 145,736,198 (GRCm39) I84N probably damaging Het
D2hgdh A G 1: 93,757,507 (GRCm39) N141D probably damaging Het
Dip2b T A 15: 100,055,162 (GRCm39) L341Q probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fam227b T A 2: 125,845,831 (GRCm39) Y386F probably benign Het
Fmn1 A T 2: 113,355,640 (GRCm39) T694S unknown Het
Gcnt2 T A 13: 41,040,856 (GRCm39) V5E probably benign Het
Herpud1 G T 8: 95,121,270 (GRCm39) E355* probably null Het
Igf1r T C 7: 67,843,144 (GRCm39) S752P probably benign Het
Iqsec1 T C 6: 90,649,057 (GRCm39) I687V possibly damaging Het
Kdm5a T C 6: 120,409,110 (GRCm39) S1598P probably damaging Het
Klk1b9 A G 7: 43,445,063 (GRCm39) E185G probably benign Het
Myo16 G T 8: 10,440,217 (GRCm39) R423L probably damaging Het
Myo7b T C 18: 32,100,207 (GRCm39) E1609G probably damaging Het
Nom1 T A 5: 29,644,814 (GRCm39) probably benign Het
Nomo1 A G 7: 45,727,480 (GRCm39) I1040V possibly damaging Het
Or8b39 G A 9: 37,996,741 (GRCm39) G203D probably damaging Het
Paqr9 T C 9: 95,442,748 (GRCm39) V246A probably benign Het
Pfkfb4 A T 9: 108,859,404 (GRCm39) D437V probably benign Het
Phldb1 G T 9: 44,622,223 (GRCm39) D797E probably benign Het
Pkd1l3 A G 8: 110,374,132 (GRCm39) E1399G probably damaging Het
Plekhs1 G A 19: 56,460,198 (GRCm39) C97Y probably damaging Het
Plscr4 A T 9: 92,372,044 (GRCm39) I272L possibly damaging Het
Prlhr A C 19: 60,456,366 (GRCm39) Y67D probably damaging Het
Rab3gap2 A G 1: 184,984,221 (GRCm39) probably benign Het
Rad23b T C 4: 55,382,511 (GRCm39) V238A probably benign Het
Sel1l2 T C 2: 140,117,380 (GRCm39) T164A possibly damaging Het
Serpinh1 T A 7: 98,996,199 (GRCm39) K295M probably damaging Het
Slc45a4 T C 15: 73,453,687 (GRCm39) E770G probably benign Het
Spag4 T C 2: 155,911,142 (GRCm39) L390P probably damaging Het
Stip1 A G 19: 7,012,857 (GRCm39) probably benign Het
Tacr1 A G 6: 82,380,739 (GRCm39) N50S probably damaging Het
Tg T C 15: 66,613,443 (GRCm39) V433A possibly damaging Het
Ubap1l T A 9: 65,276,493 (GRCm39) probably benign Het
Usp40 A T 1: 87,909,738 (GRCm39) I572K probably damaging Het
Vps13b G T 15: 35,917,308 (GRCm39) E3717D probably damaging Het
Wdr81 T C 11: 75,335,232 (GRCm39) N1778S probably benign Het
Ylpm1 T A 12: 85,095,965 (GRCm39) F1162Y probably damaging Het
Zbtb10 T A 3: 9,330,297 (GRCm39) F552I probably damaging Het
Zfp507 T C 7: 35,475,891 (GRCm39) I811V probably damaging Het
Zfp663 A T 2: 165,195,871 (GRCm39) V116D probably benign Het
Other mutations in Clk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Clk3 APN 9 57,661,875 (GRCm39) missense probably damaging 1.00
IGL01654:Clk3 APN 9 57,659,046 (GRCm39) missense probably damaging 1.00
R0062:Clk3 UTSW 9 57,659,449 (GRCm39) missense probably damaging 1.00
R0062:Clk3 UTSW 9 57,659,449 (GRCm39) missense probably damaging 1.00
R0731:Clk3 UTSW 9 57,658,409 (GRCm39) unclassified probably benign
R1944:Clk3 UTSW 9 57,672,469 (GRCm39) missense probably benign 0.27
R2060:Clk3 UTSW 9 57,658,400 (GRCm39) missense probably damaging 1.00
R2362:Clk3 UTSW 9 57,661,902 (GRCm39) missense possibly damaging 0.90
R4380:Clk3 UTSW 9 57,659,075 (GRCm39) missense probably damaging 1.00
R5395:Clk3 UTSW 9 57,660,622 (GRCm39) missense probably damaging 1.00
R5422:Clk3 UTSW 9 57,672,721 (GRCm39) missense probably benign
R6652:Clk3 UTSW 9 57,669,078 (GRCm39) missense probably damaging 0.99
R6828:Clk3 UTSW 9 57,668,132 (GRCm39) missense possibly damaging 0.87
R6933:Clk3 UTSW 9 57,669,132 (GRCm39) missense probably damaging 1.00
R7343:Clk3 UTSW 9 57,668,239 (GRCm39) missense probably damaging 0.97
R7585:Clk3 UTSW 9 57,669,119 (GRCm39) missense probably damaging 1.00
R8395:Clk3 UTSW 9 57,672,445 (GRCm39) missense probably benign
Posted On 2015-04-16