Incidental Mutation 'R7138:Clk4'
ID 553210
Institutional Source Beutler Lab
Gene Symbol Clk4
Ensembl Gene ENSMUSG00000020385
Gene Name CDC like kinase 4
Synonyms
MMRRC Submission 045249-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.738) question?
Stock # R7138 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 51153941-51172597 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 51168759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 377 (F377L)
Ref Sequence ENSEMBL: ENSMUSP00000090820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093132] [ENSMUST00000109111] [ENSMUST00000109113] [ENSMUST00000126131] [ENSMUST00000130641] [ENSMUST00000148053]
AlphaFold O35493
Predicted Effect probably damaging
Transcript: ENSMUST00000093132
AA Change: F377L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: F377L

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 damaging
Transcript: ENSMUST00000109111
AA Change: F197L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385
AA Change: F197L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 225 3.3e-20 PFAM
Pfam:Pkinase 1 295 5.4e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109113
AA Change: F197L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385
AA Change: F197L

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
SMART Domains Protein: ENSMUSP00000118972
Gene: ENSMUSG00000020385

DomainStartEndE-ValueType
low complexity region 63 74 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130641
SMART Domains Protein: ENSMUSP00000123133
Gene: ENSMUSG00000020385

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
SMART Domains Protein: ENSMUSP00000120822
Gene: ENSMUSG00000020385

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,899,113 (GRCm39) C698* probably null Het
Acacb G A 5: 114,345,387 (GRCm39) V947M probably benign Het
Acadsb T G 7: 131,042,968 (GRCm39) L343R probably damaging Het
Adgrf2 C T 17: 43,021,874 (GRCm39) E317K probably damaging Het
Agap2 A G 10: 126,923,154 (GRCm39) T663A unknown Het
Akap8 A T 17: 32,535,515 (GRCm39) F166L possibly damaging Het
Ankrd17 A T 5: 90,390,836 (GRCm39) M2278K probably benign Het
Avl9 T C 6: 56,705,242 (GRCm39) S148P probably damaging Het
Brf1 T C 12: 112,933,835 (GRCm39) E266G probably damaging Het
Cabin1 T C 10: 75,581,187 (GRCm39) K380E probably damaging Het
Catsper2 T C 2: 121,227,544 (GRCm39) D542G possibly damaging Het
Cbln4 C A 2: 171,884,095 (GRCm39) D42Y probably damaging Het
Ccn6 T A 10: 39,034,473 (GRCm39) Q43L possibly damaging Het
Cd5 C T 19: 10,697,668 (GRCm39) R437Q probably damaging Het
Ceacam18 G C 7: 43,288,706 (GRCm39) E152D possibly damaging Het
Chd8 A G 14: 52,451,955 (GRCm39) S1347P possibly damaging Het
Chodl T G 16: 78,738,335 (GRCm39) I101R probably damaging Het
Cntnap3 C T 13: 64,929,539 (GRCm39) probably null Het
Dab2 A G 15: 6,458,780 (GRCm39) S231G probably benign Het
Disp2 T A 2: 118,617,361 (GRCm39) H118Q probably benign Het
Dnah10 T C 5: 124,900,009 (GRCm39) F3869S probably damaging Het
Edil3 C T 13: 89,279,847 (GRCm39) T175I probably damaging Het
Eif1ad18 T G 12: 88,050,648 (GRCm39) I61R probably damaging Het
Fap A G 2: 62,372,522 (GRCm39) S319P probably benign Het
Frmpd2 T A 14: 33,293,761 (GRCm39) V1309E probably benign Het
Galntl5 T A 5: 25,394,842 (GRCm39) S70T probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gna15 G A 10: 81,343,881 (GRCm39) T260M probably damaging Het
Gucy2c A G 6: 136,705,342 (GRCm39) I531T probably damaging Het
Heatr5b A G 17: 79,135,417 (GRCm39) V238A probably damaging Het
Htr2a A G 14: 74,943,182 (GRCm39) Y254C probably damaging Het
Inpp5b A G 4: 124,679,065 (GRCm39) R491G probably damaging Het
Kcnt2 C T 1: 140,523,778 (GRCm39) L1093F possibly damaging Het
Kcp C A 6: 29,491,861 (GRCm39) E922* probably null Het
Lrp2 G A 2: 69,296,089 (GRCm39) A3340V possibly damaging Het
Lrrn1 T G 6: 107,545,336 (GRCm39) V378G probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Net1 G A 13: 3,938,510 (GRCm39) R126C probably damaging Het
Nipsnap3a T C 4: 52,993,978 (GRCm39) C20R probably benign Het
Nxpe2 C T 9: 48,232,006 (GRCm39) C317Y probably damaging Het
Or10v9 T A 19: 11,832,652 (GRCm39) I222F probably damaging Het
Or52h1 T C 7: 103,829,504 (GRCm39) Y37C probably damaging Het
Or8b8 T C 9: 37,809,360 (GRCm39) I220T probably damaging Het
Or8g54 T G 9: 39,707,086 (GRCm39) Y138* probably null Het
Orm1 T A 4: 63,262,949 (GRCm39) W39R probably damaging Het
Pds5b A T 5: 150,724,142 (GRCm39) K1240* probably null Het
Pdss1 T A 2: 22,802,681 (GRCm39) H173Q probably damaging Het
Pebp1 A G 5: 117,423,882 (GRCm39) W84R probably damaging Het
Pla2g4e C T 2: 120,001,759 (GRCm39) C630Y probably damaging Het
Plaat3 T A 19: 7,556,550 (GRCm39) V117E probably damaging Het
Plekho2 G T 9: 65,463,635 (GRCm39) Q405K probably benign Het
Plppr2 T A 9: 21,855,708 (GRCm39) V227E probably damaging Het
Pphln1-ps1 T A 16: 13,495,589 (GRCm39) D229E probably benign Het
Rapgef4 T C 2: 72,028,707 (GRCm39) S393P probably damaging Het
Rapgefl1 A G 11: 98,737,900 (GRCm39) probably null Het
Ripk3 C A 14: 56,025,803 (GRCm39) R19L probably benign Het
Rnase10 G T 14: 51,247,167 (GRCm39) V182F probably damaging Het
Rsf1 T A 7: 97,319,002 (GRCm39) S917R Het
Sephs2 T C 7: 126,872,187 (GRCm39) N302S possibly damaging Het
Slc13a2 C T 11: 78,289,950 (GRCm39) V455M possibly damaging Het
Slc30a2 A T 4: 134,071,429 (GRCm39) D54V probably benign Het
Slco6c1 T C 1: 97,047,706 (GRCm39) E199G possibly damaging Het
Snx27 A T 3: 94,436,247 (GRCm39) M256K probably benign Het
Spag4 T A 2: 155,908,519 (GRCm39) S150T probably benign Het
Spon1 T A 7: 113,635,945 (GRCm39) C720S probably damaging Het
Tbc1d22a T C 15: 86,123,356 (GRCm39) S166P probably benign Het
Tbc1d9 T C 8: 83,937,113 (GRCm39) I65T probably damaging Het
Tmem176a T A 6: 48,820,953 (GRCm39) V141D probably damaging Het
Tmem268 G A 4: 63,480,687 (GRCm39) probably benign Het
Tonsl A G 15: 76,518,976 (GRCm39) V519A probably benign Het
Ttn G A 2: 76,612,376 (GRCm39) P17204S possibly damaging Het
Wrap53 T A 11: 69,454,694 (GRCm39) D225V probably benign Het
Zfhx4 G A 3: 5,477,107 (GRCm39) A3241T possibly damaging Het
Zfp1002 T C 2: 150,097,372 (GRCm39) H47R probably damaging Het
Znfx1 T C 2: 166,898,697 (GRCm39) R76G 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
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'- TGAGCAGTTTAAAGCTGTTGGC -3'
(R):5'- CTCTACATGAGCTCTACGTTAAAAG -3'

Sequencing Primer
(F):5'- CCGTAATGAGATCTGATGCCC -3'
(R):5'- TTGAAACAAGTTACAACCTCACTAG -3'
Posted On 2019-05-15