Incidental Mutation 'R0466:Clk4'
ID 41646
Institutional Source Beutler Lab
Gene Symbol Clk4
Ensembl Gene ENSMUSG00000020385
Gene Name CDC like kinase 4
Synonyms
MMRRC Submission 038666-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.738) question?
Stock # R0466 (G1)
Quality Score 196
Status Validated
Chromosome 11
Chromosomal Location 51153941-51172597 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51158155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 53 (D53G)
Ref Sequence ENSEMBL: ENSMUSP00000090820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054226] [ENSMUST00000065950] [ENSMUST00000093132] [ENSMUST00000109113] [ENSMUST00000126131] [ENSMUST00000130641] [ENSMUST00000148053] [ENSMUST00000153414]
AlphaFold O35493
Predicted Effect probably benign
Transcript: ENSMUST00000054226
SMART Domains Protein: ENSMUSP00000061848
Gene: ENSMUSG00000045942

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000065950
SMART Domains Protein: ENSMUSP00000071085
Gene: ENSMUSG00000045942

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000093132
AA Change: D53G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: D53G

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
low complexity region 63 80 N/A INTRINSIC
low complexity region 102 119 N/A INTRINSIC
low complexity region 123 138 N/A INTRINSIC
S_TKc 159 475 1.58e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109113
SMART Domains Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 225 3.3e-20 PFAM
Pfam:Pkinase 1 295 5.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126131
AA Change: I34V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000118972
Gene: ENSMUSG00000020385
AA Change: I34V

DomainStartEndE-ValueType
low complexity region 63 74 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000130641
AA Change: I34V
SMART Domains Protein: ENSMUSP00000123133
Gene: ENSMUSG00000020385
AA Change: I34V

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
low complexity region 105 122 N/A INTRINSIC
low complexity region 126 141 N/A INTRINSIC
PDB:2VAG|A 149 182 2e-14 PDB
SCOP:d1howa_ 149 182 2e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148053
AA Change: I34V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000120822
Gene: ENSMUSG00000020385
AA Change: I34V

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153414
AA Change: I34V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000115894
Gene: ENSMUSG00000020385
AA Change: I34V

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133200
Meta Mutation Damage Score 0.2436 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 97% (63/65)
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 CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,887,321 (GRCm39) Y373C probably benign Het
Abca12 T G 1: 71,341,822 (GRCm39) Q1046H probably damaging Het
Adgrv1 A G 13: 81,714,415 (GRCm39) F956S probably benign Het
Alk A G 17: 72,212,152 (GRCm39) V797A possibly damaging Het
Ascl2 A G 7: 142,522,217 (GRCm39) L77P probably benign Het
Aspm A T 1: 139,405,639 (GRCm39) I1509F probably damaging Het
AY358078 A T 14: 52,043,089 (GRCm39) Y259F unknown Het
Cbs G A 17: 31,835,126 (GRCm39) A450V probably benign Het
Cdh11 T A 8: 103,396,690 (GRCm39) Q213L possibly damaging Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cfap126 T C 1: 170,953,769 (GRCm39) I113T probably damaging Het
Dab1 T C 4: 104,577,747 (GRCm39) L272P probably benign Het
Dmtf1 A T 5: 9,182,454 (GRCm39) probably null Het
Dph5 A C 3: 115,722,359 (GRCm39) D279A probably benign Het
Fbxw19 T A 9: 109,307,717 (GRCm39) T461S probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gcg T C 2: 62,307,282 (GRCm39) D93G probably damaging Het
Gmps A G 3: 63,901,365 (GRCm39) T395A probably damaging Het
H2-Ob A G 17: 34,461,633 (GRCm39) D124G probably damaging Het
Itga8 G T 2: 12,237,697 (GRCm39) A341E probably damaging Het
Itih3 A G 14: 30,634,831 (GRCm39) probably null Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kif2c C T 4: 117,029,489 (GRCm39) R215Q possibly damaging Het
Letm1 A C 5: 33,919,074 (GRCm39) probably benign Het
Lypd8l T C 11: 58,503,331 (GRCm39) probably benign Het
Mmp3 A G 9: 7,450,165 (GRCm39) D299G probably damaging Het
Myh8 G T 11: 67,189,405 (GRCm39) A1194S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nfib A C 4: 82,416,775 (GRCm39) Y87D probably damaging Het
Nlrp4a T C 7: 26,162,045 (GRCm39) probably benign Het
Nsmce1 A T 7: 125,071,408 (GRCm39) probably benign Het
Odad2 T A 18: 7,286,758 (GRCm39) I158F probably benign Het
Or7g12 T G 9: 18,899,551 (GRCm39) V89G probably benign Het
Or7g27 A T 9: 19,250,475 (GRCm39) T240S probably damaging Het
Patj C A 4: 98,576,393 (GRCm39) Q1193K probably damaging Het
Pcdhb5 G A 18: 37,455,596 (GRCm39) V659M probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pmis2 T C 7: 30,370,817 (GRCm39) I46V probably benign Het
Ppp2r5e A G 12: 75,509,216 (GRCm39) probably benign Het
Prom2 A G 2: 127,370,709 (GRCm39) F825S probably damaging Het
Rab11fip2 G A 19: 59,894,675 (GRCm39) A524V possibly damaging Het
Rb1cc1 A C 1: 6,333,491 (GRCm39) probably null Het
Rwdd3 G C 3: 120,952,668 (GRCm39) Q180E possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgcg A T 14: 61,459,135 (GRCm39) C265S probably damaging Het
Slc16a3 T C 11: 120,848,878 (GRCm39) S445P possibly damaging Het
Slc22a3 G A 17: 12,677,380 (GRCm39) Q263* probably null Het
Sorcs3 A G 19: 48,736,758 (GRCm39) T694A probably benign Het
Tbc1d15 T C 10: 115,055,077 (GRCm39) K322E probably damaging Het
Tecta G T 9: 42,284,369 (GRCm39) F905L probably benign Het
Tmeff1 A G 4: 48,636,853 (GRCm39) I184V possibly damaging Het
Ttf1 A G 2: 28,955,419 (GRCm39) H261R possibly damaging Het
Ttll6 T A 11: 96,036,417 (GRCm39) L349M probably damaging Het
Ubac2 G A 14: 122,211,031 (GRCm39) V134M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r25 T G 6: 123,829,008 (GRCm39) I89L probably benign Het
Vmn2r6 A C 3: 64,463,723 (GRCm39) F370L probably damaging Het
Vps13b T A 15: 35,445,748 (GRCm39) Y412* probably null Het
Zfp142 A G 1: 74,624,570 (GRCm39) S85P possibly damaging Het
Zfp516 G A 18: 82,975,579 (GRCm39) probably null Het
Other mutations in Clk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Clk4 APN 11 51,171,999 (GRCm39) nonsense probably null
B6819:Clk4 UTSW 11 51,166,593 (GRCm39) unclassified probably benign
K7894:Clk4 UTSW 11 51,166,593 (GRCm39) unclassified probably benign
R0001:Clk4 UTSW 11 51,159,592 (GRCm39) splice site probably benign
R0692:Clk4 UTSW 11 51,172,155 (GRCm39) nonsense probably null
R0719:Clk4 UTSW 11 51,166,320 (GRCm39) nonsense probably null
R0723:Clk4 UTSW 11 51,166,320 (GRCm39) nonsense probably null
R1277:Clk4 UTSW 11 51,158,016 (GRCm39) missense probably benign
R1714:Clk4 UTSW 11 51,171,245 (GRCm39) missense probably damaging 1.00
R4804:Clk4 UTSW 11 51,172,150 (GRCm39) missense probably damaging 1.00
R5141:Clk4 UTSW 11 51,166,598 (GRCm39) missense possibly damaging 0.79
R5399:Clk4 UTSW 11 51,166,084 (GRCm39) missense probably damaging 1.00
R6182:Clk4 UTSW 11 51,159,009 (GRCm39) missense possibly damaging 0.66
R6274:Clk4 UTSW 11 51,162,748 (GRCm39) missense possibly damaging 0.69
R6480:Clk4 UTSW 11 51,161,373 (GRCm39) nonsense probably null
R6759:Clk4 UTSW 11 51,166,401 (GRCm39) missense possibly damaging 0.95
R6843:Clk4 UTSW 11 51,167,076 (GRCm39) critical splice donor site probably null
R7138:Clk4 UTSW 11 51,168,759 (GRCm39) missense probably damaging 1.00
R7186:Clk4 UTSW 11 51,159,607 (GRCm39) missense probably benign 0.00
R7235:Clk4 UTSW 11 51,167,012 (GRCm39) missense probably damaging 0.98
R7687:Clk4 UTSW 11 51,172,225 (GRCm39) missense probably benign 0.02
R7842:Clk4 UTSW 11 51,171,956 (GRCm39) missense probably benign 0.00
R8073:Clk4 UTSW 11 51,168,716 (GRCm39) missense probably benign 0.29
R8515:Clk4 UTSW 11 51,166,088 (GRCm39) missense probably damaging 0.97
R8516:Clk4 UTSW 11 51,166,088 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AAGTGCTAAGAGCCTACGTGACCC -3'
(R):5'- TGAGCTACTGTCTCCTATCAATCCCAG -3'

Sequencing Primer
(F):5'- ACCCTGTGTGTGAGGTATTCC -3'
(R):5'- TCTCCTATCAATCCCAGACAGAC -3'
Posted On 2013-05-23