Incidental Mutation 'BB011:Cilk1'
ID 642653
Institutional Source Beutler Lab
Gene Symbol Cilk1
Ensembl Gene ENSMUSG00000009828
Gene Name ciliogenesis associated kinase 1
Synonyms 2210420N10Rik, Ick
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # BB011
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 78016474-78079389 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78062746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 260 (L260P)
Ref Sequence ENSEMBL: ENSMUSP00000048234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044551] [ENSMUST00000117330] [ENSMUST00000118869]
AlphaFold Q9JKV2
Predicted Effect probably damaging
Transcript: ENSMUST00000044551
AA Change: L260P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048234
Gene: ENSMUSG00000009828
AA Change: L260P

DomainStartEndE-ValueType
S_TKc 4 284 2.7e-102 SMART
low complexity region 310 327 N/A INTRINSIC
low complexity region 331 344 N/A INTRINSIC
low complexity region 413 422 N/A INTRINSIC
low complexity region 457 471 N/A INTRINSIC
low complexity region 513 551 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117330
AA Change: L260P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113655
Gene: ENSMUSG00000009828
AA Change: L260P

DomainStartEndE-ValueType
S_TKc 4 284 2.7e-102 SMART
low complexity region 310 327 N/A INTRINSIC
low complexity region 331 344 N/A INTRINSIC
low complexity region 413 422 N/A INTRINSIC
low complexity region 457 471 N/A INTRINSIC
low complexity region 513 539 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118869
AA Change: L260P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112961
Gene: ENSMUSG00000009828
AA Change: L260P

DomainStartEndE-ValueType
S_TKc 4 284 2.7e-102 SMART
low complexity region 310 327 N/A INTRINSIC
low complexity region 331 344 N/A INTRINSIC
low complexity region 413 422 N/A INTRINSIC
low complexity region 457 471 N/A INTRINSIC
low complexity region 513 551 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal primary cilium morphology and Shh signaling during limb digit patterning, peripheral edema, cleft palate, hydrocephalus, polydactyly, delayed skeletal development, and embryonic lethality at late stages of gestation. [provided by MGI curators]
Allele List at MGI

All alleles(29) : Targeted, other(1) Gene trapped(28)

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,383,281 (GRCm39) K2155E possibly damaging Het
Adgre5 G A 8: 84,456,029 (GRCm39) P256S possibly damaging Het
Adipor1 T A 1: 134,353,731 (GRCm39) V172D probably damaging Het
Ahsa1 T C 12: 87,317,230 (GRCm39) probably null Het
Ankrd11 T C 8: 123,622,641 (GRCm39) I404V possibly damaging Het
Asxl3 G A 18: 22,658,602 (GRCm39) R2204Q probably damaging Het
Barhl2 A G 5: 106,605,515 (GRCm39) S65P unknown Het
Bbx A T 16: 50,044,671 (GRCm39) L630H probably damaging Het
Cars1 T C 7: 143,123,608 (GRCm39) T531A possibly damaging Het
Catsperb T A 12: 101,486,824 (GRCm39) H450Q probably benign Het
Cdt1 T C 8: 123,296,091 (GRCm39) L135P probably damaging Het
Cfap206 T A 4: 34,728,833 (GRCm39) H24L probably benign Het
Cnga4 T A 7: 105,057,028 (GRCm39) V480E probably benign Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Ctcfl G A 2: 172,955,449 (GRCm39) T271I possibly damaging Het
Dlc1 T C 8: 37,038,570 (GRCm39) R1003G probably benign Het
Dnah7b A G 1: 46,258,590 (GRCm39) D1927G probably benign Het
Dscc1 A T 15: 54,945,572 (GRCm39) D374E probably benign Het
Eci2 G A 13: 35,177,053 (GRCm39) Q69* probably null Het
Ep300 C A 15: 81,533,703 (GRCm39) P1920Q unknown Het
Epha5 A G 5: 84,232,705 (GRCm39) Y629H possibly damaging Het
Fat2 G A 11: 55,153,613 (GRCm39) T3533I probably benign Het
Fat3 T C 9: 15,910,593 (GRCm39) N1803S probably damaging Het
Fcrl2 T C 3: 87,166,840 (GRCm39) Y51C probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gcnt2 A T 13: 41,072,040 (GRCm39) K228* probably null Het
Gucy2c A T 6: 136,740,053 (GRCm39) V258E probably benign Het
Hecw1 C A 13: 14,497,113 (GRCm39) L298F probably damaging Het
Hydin T G 8: 111,145,103 (GRCm39) V818G possibly damaging Het
Hykk A G 9: 54,829,524 (GRCm39) Y131C probably damaging Het
Mpo A G 11: 87,685,666 (GRCm39) D48G probably damaging Het
Mrps10 T C 17: 47,689,208 (GRCm39) *202Q probably null Het
Mrps14 T C 1: 160,024,559 (GRCm39) V30A probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Muc2 G T 7: 141,281,631 (GRCm39) G497W probably damaging Het
Nnt A T 13: 119,523,181 (GRCm39) V237D probably damaging Het
Nox4 G T 7: 87,023,589 (GRCm39) V492L probably benign Het
Obscn C G 11: 59,003,381 (GRCm39) E1306Q probably benign Het
Or5ak23 T C 2: 85,244,563 (GRCm39) Y220C probably benign Het
Or6aa1 A G 7: 86,043,938 (GRCm39) I256T probably damaging Het
Pard3 A G 8: 128,137,231 (GRCm39) N861S probably benign Het
Pdlim4 G A 11: 53,946,048 (GRCm39) R230* probably null Het
Pinlyp C T 7: 24,241,550 (GRCm39) V159M possibly damaging Het
Plcb1 A T 2: 135,201,613 (GRCm39) T855S probably benign Het
Pot1a T A 6: 25,753,309 (GRCm39) D409V possibly damaging Het
Prom1 T C 5: 44,187,111 (GRCm39) D382G probably benign Het
Prss16 A T 13: 22,192,834 (GRCm39) N83K probably damaging Het
Ptprn2 A G 12: 116,804,884 (GRCm39) D133G probably benign Het
Rasef C T 4: 73,659,166 (GRCm39) probably null Het
Rbak A G 5: 143,160,241 (GRCm39) S271P probably damaging Het
Rbm20 A T 19: 53,666,016 (GRCm39) I60F possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rsf1 G GACGGCCGCC 7: 97,229,116 (GRCm39) probably benign Het
Serpinb3c A G 1: 107,200,904 (GRCm39) L171P probably damaging Het
Slc25a19 T C 11: 115,506,376 (GRCm39) Y211C unknown Het
Sorbs2 C T 8: 46,248,507 (GRCm39) S586L probably damaging Het
Spesp1 A T 9: 62,180,733 (GRCm39) S58R probably benign Het
Spryd3 A G 15: 102,026,762 (GRCm39) I329T probably benign Het
St8sia2 G A 7: 73,616,700 (GRCm39) L113F probably damaging Het
Star T C 8: 26,299,883 (GRCm39) I75T possibly damaging Het
Tasor2 A T 13: 3,644,331 (GRCm39) F129Y possibly damaging Het
Tdrd6 T A 17: 43,938,697 (GRCm39) I784F possibly damaging Het
Tex55 G A 16: 38,632,826 (GRCm39) Q369* probably null Het
Tsc22d4 A G 5: 137,766,273 (GRCm39) I144V unknown Het
Tspan8 T C 10: 115,669,229 (GRCm39) probably null Het
Ttll9 C T 2: 152,804,407 (GRCm39) probably benign Het
Ubr4 T G 4: 139,194,587 (GRCm39) L1160R unknown Het
Ufd1 A G 16: 18,642,035 (GRCm39) Y162C possibly damaging Het
Unc13c A T 9: 73,641,690 (GRCm39) F1268I probably benign Het
Uvssa T C 5: 33,568,295 (GRCm39) I561T probably damaging Het
Vmn2r15 A T 5: 109,434,254 (GRCm39) S817T probably damaging Het
Ybx1 T C 4: 119,139,476 (GRCm39) E173G probably damaging Het
Zc3h6 T C 2: 128,857,400 (GRCm39) S640P possibly damaging Het
Other mutations in Cilk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Cilk1 APN 9 78,071,821 (GRCm39) missense probably benign 0.00
IGL01679:Cilk1 APN 9 78,047,307 (GRCm39) missense possibly damaging 0.94
IGL02525:Cilk1 APN 9 78,067,675 (GRCm39) missense probably benign 0.37
IGL02719:Cilk1 APN 9 78,047,301 (GRCm39) missense probably damaging 0.99
BB001:Cilk1 UTSW 9 78,062,746 (GRCm39) missense probably damaging 1.00
H8930:Cilk1 UTSW 9 78,057,901 (GRCm39) missense possibly damaging 0.92
R0471:Cilk1 UTSW 9 78,062,799 (GRCm39) critical splice donor site probably null
R1626:Cilk1 UTSW 9 78,057,919 (GRCm39) missense probably damaging 1.00
R1824:Cilk1 UTSW 9 78,065,144 (GRCm39) missense probably benign
R2186:Cilk1 UTSW 9 78,038,769 (GRCm39) missense probably benign 0.07
R2872:Cilk1 UTSW 9 78,047,382 (GRCm39) splice site probably null
R2872:Cilk1 UTSW 9 78,047,382 (GRCm39) splice site probably null
R4609:Cilk1 UTSW 9 78,075,071 (GRCm39) utr 3 prime probably benign
R4737:Cilk1 UTSW 9 78,057,936 (GRCm39) missense probably damaging 1.00
R4792:Cilk1 UTSW 9 78,060,975 (GRCm39) missense probably damaging 1.00
R5001:Cilk1 UTSW 9 78,038,801 (GRCm39) missense probably damaging 1.00
R5060:Cilk1 UTSW 9 78,060,978 (GRCm39) missense probably benign 0.01
R5093:Cilk1 UTSW 9 78,047,303 (GRCm39) missense probably benign 0.24
R5393:Cilk1 UTSW 9 78,067,997 (GRCm39) missense probably benign
R6199:Cilk1 UTSW 9 78,071,921 (GRCm39) missense probably benign 0.04
R6412:Cilk1 UTSW 9 78,047,258 (GRCm39) missense probably damaging 1.00
R7038:Cilk1 UTSW 9 78,016,484 (GRCm39) unclassified probably benign
R7468:Cilk1 UTSW 9 78,065,221 (GRCm39) missense probably benign 0.00
R7660:Cilk1 UTSW 9 78,074,902 (GRCm39) missense probably benign
R7661:Cilk1 UTSW 9 78,074,902 (GRCm39) missense probably benign
R7662:Cilk1 UTSW 9 78,074,902 (GRCm39) missense probably benign
R7666:Cilk1 UTSW 9 78,074,902 (GRCm39) missense probably benign
R7693:Cilk1 UTSW 9 78,065,008 (GRCm39) missense probably benign
R7783:Cilk1 UTSW 9 78,042,927 (GRCm39) missense probably damaging 0.97
R7787:Cilk1 UTSW 9 78,074,902 (GRCm39) missense probably benign
R7788:Cilk1 UTSW 9 78,074,902 (GRCm39) missense probably benign
R7924:Cilk1 UTSW 9 78,062,746 (GRCm39) missense probably damaging 1.00
R8317:Cilk1 UTSW 9 78,060,933 (GRCm39) missense probably damaging 0.98
R8861:Cilk1 UTSW 9 78,071,844 (GRCm39) missense probably benign 0.01
R9131:Cilk1 UTSW 9 78,074,230 (GRCm39) missense possibly damaging 0.89
R9749:Cilk1 UTSW 9 78,060,999 (GRCm39) missense probably damaging 0.99
R9782:Cilk1 UTSW 9 78,048,520 (GRCm39) missense probably damaging 0.99
X0067:Cilk1 UTSW 9 78,062,685 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACAGTTGCCTTTCTGTGACGG -3'
(R):5'- CTCCAGTTCAGAGCAGTCAATAC -3'

Sequencing Primer
(F):5'- TGACGGGCACACAGAAGACC -3'
(R):5'- AGAGCAGTCAATACTATTTTTCAACC -3'
Posted On 2020-08-01