Incidental Mutation 'R7842:Clk4'
ID 606389
Institutional Source Beutler Lab
Gene Symbol Clk4
Ensembl Gene ENSMUSG00000020385
Gene Name CDC like kinase 4
Synonyms
MMRRC Submission 045896-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.738) question?
Stock # R7842 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 51153941-51172597 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51171956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 412 (H412L)
Ref Sequence ENSEMBL: ENSMUSP00000090820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093132] [ENSMUST00000109111] [ENSMUST00000109113]
AlphaFold O35493
Predicted Effect probably benign
Transcript: ENSMUST00000093132
AA Change: H412L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: H412L

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: ENSMUST00000109111
AA Change: H232L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385
AA Change: H232L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 225 3.3e-20 PFAM
Pfam:Pkinase 1 295 5.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109113
AA Change: H232L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385
AA Change: H232L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 225 3.3e-20 PFAM
Pfam:Pkinase 1 295 5.4e-60 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (77/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,855,034 (GRCm39) T3A unknown Het
4933412E24Rik T C 15: 59,888,422 (GRCm39) E6G probably damaging Het
Abca6 A G 11: 110,087,523 (GRCm39) L1135P possibly damaging Het
Agps A G 2: 75,681,876 (GRCm39) D113G probably damaging Het
Ankhd1 G T 18: 36,780,881 (GRCm39) V1978L probably benign Het
Ankrd31 T A 13: 96,957,966 (GRCm39) probably null Het
Arhgap5 T A 12: 52,565,480 (GRCm39) M817K possibly damaging Het
Bdp1 C A 13: 100,235,637 (GRCm39) V105F probably damaging Het
Brdt A G 5: 107,496,454 (GRCm39) N189D possibly damaging Het
Ccdc180 A T 4: 45,909,428 (GRCm39) N532I probably benign Het
Ccnc A C 4: 21,730,480 (GRCm39) K39T probably damaging Het
Cfap251 T C 5: 123,392,487 (GRCm39) V207A unknown Het
Cfap57 C A 4: 118,411,952 (GRCm39) G1231* probably null Het
Chd7 A T 4: 8,854,115 (GRCm39) T1896S probably benign Het
Creld1 T C 6: 113,465,100 (GRCm39) L109P probably damaging Het
Cxxc4 A T 3: 133,946,093 (GRCm39) I225L possibly damaging Het
Cyp4f39 A T 17: 32,702,291 (GRCm39) R263W probably benign Het
Dennd10 G A 19: 60,819,317 (GRCm39) A263T not run Het
Dip2c T C 13: 9,656,569 (GRCm39) probably null Het
Dnah14 A G 1: 181,455,463 (GRCm39) T863A probably damaging Het
Dnah17 C A 11: 117,970,508 (GRCm39) probably null Het
Dnajc10 A G 2: 80,175,409 (GRCm39) K599E probably benign Het
Dnajc7 C A 11: 100,489,544 (GRCm39) R101L probably benign Het
Dnttip2 G A 3: 122,069,990 (GRCm39) E402K probably benign Het
Dusp22 T A 13: 30,852,774 (GRCm39) probably null Het
Egflam C A 15: 7,280,675 (GRCm39) R450M probably null Het
Eml5 C T 12: 98,760,394 (GRCm39) R1785Q probably damaging Het
Fam78b G T 1: 166,829,178 (GRCm39) R15L probably damaging Het
Fbxl5 A T 5: 43,915,945 (GRCm39) I489N probably damaging Het
Flt3 G A 5: 147,271,263 (GRCm39) P893S probably damaging Het
Gm17019 T C 5: 15,081,049 (GRCm39) M131V possibly damaging Het
Gm21560 T A 14: 6,216,262 (GRCm38) I194F probably benign Het
Gm28729 T C 9: 96,399,705 (GRCm39) D158G probably damaging Het
Gucy2c C T 6: 136,746,814 (GRCm39) probably null Het
Hectd1 C T 12: 51,819,343 (GRCm39) G1247S probably damaging Het
Ireb2 T A 9: 54,816,970 (GRCm39) I946K probably benign Het
Itgb4 A T 11: 115,873,531 (GRCm39) D249V probably benign Het
Klhdc7a A G 4: 139,694,549 (GRCm39) S133P probably damaging Het
Lsr A T 7: 30,665,437 (GRCm39) D172E possibly damaging Het
Macf1 T C 4: 123,420,702 (GRCm39) E184G probably benign Het
Map2 T A 1: 66,455,570 (GRCm39) D1421E probably benign Het
Map3k4 A T 17: 12,490,030 (GRCm39) L467H possibly damaging Het
Mogat1 T C 1: 78,499,502 (GRCm39) probably null Het
Mxra8 A G 4: 155,927,367 (GRCm39) D384G probably damaging Het
Myo15b A G 11: 115,762,321 (GRCm39) T1214A Het
Naip1 T C 13: 100,563,506 (GRCm39) Y553C probably damaging Het
Nln A T 13: 104,189,137 (GRCm39) I278K probably benign Het
Nsmaf T A 4: 6,435,109 (GRCm39) probably null Het
Nynrin A G 14: 56,102,553 (GRCm39) R741G probably damaging Het
Or4p8 A G 2: 88,727,305 (GRCm39) V212A possibly damaging Het
Or52e19b A G 7: 103,032,783 (GRCm39) V142A probably benign Het
Or5d38 C T 2: 87,955,330 (GRCm39) probably benign Het
Or8j3 G T 2: 86,028,516 (GRCm39) Y193* probably null Het
Orc1 A G 4: 108,462,744 (GRCm39) H607R probably benign Het
Pate2 A T 9: 35,581,829 (GRCm39) Y41F probably damaging Het
Pcdhb20 A T 18: 37,638,112 (GRCm39) T213S possibly damaging Het
Pcm1 G A 8: 41,780,621 (GRCm39) E1858K possibly damaging Het
Pla2g2d A G 4: 138,506,089 (GRCm39) T59A probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Prl2c2 A G 13: 13,179,907 (GRCm39) L2P probably benign Het
Proz G A 8: 13,113,406 (GRCm39) V76I probably benign Het
Prr36 A G 8: 4,260,953 (GRCm39) S955P probably benign Het
Pter T C 2: 12,983,352 (GRCm39) V119A probably damaging Het
Qrich1 T A 9: 108,433,567 (GRCm39) probably null Het
Rbm15b T C 9: 106,763,088 (GRCm39) E360G probably damaging Het
Skint11 G A 4: 114,101,968 (GRCm39) C327Y possibly damaging Het
Spag17 T A 3: 99,961,174 (GRCm39) S987T probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Tbx1 T C 16: 18,405,365 (GRCm39) S100G unknown Het
Tiam2 C T 17: 3,568,399 (GRCm39) S1515L possibly damaging Het
Togaram1 C A 12: 65,013,233 (GRCm39) D161E probably damaging Het
Trhde A T 10: 114,532,003 (GRCm39) S366T possibly damaging Het
Ttc12 A G 9: 49,349,724 (GRCm39) I691T possibly damaging Het
Ube4a A G 9: 44,861,025 (GRCm39) probably null Het
Uggt2 A T 14: 119,235,516 (GRCm39) I1453N probably damaging Het
Unc79 T C 12: 103,058,313 (GRCm39) S972P probably damaging Het
Wdr20 G A 12: 110,704,649 (GRCm39) D63N probably benign Het
Wls T A 3: 159,578,816 (GRCm39) I126N probably benign Het
Xirp2 A G 2: 67,355,289 (GRCm39) D3350G probably benign 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
R0466:Clk4 UTSW 11 51,158,155 (GRCm39) missense possibly damaging 0.59
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
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'- GTAAAGCGTCATGTATTTTGCTGC -3'
(R):5'- TCCAACATTCTTCGAACCAGGTC -3'

Sequencing Primer
(F):5'- CCAGGGTTTGGGGACAA -3'
(R):5'- GGTCAAACAGCTTCTCATGC -3'
Posted On 2019-12-20