Incidental Mutation 'R7038:Cilk1'
ID 568383
Institutional Source Beutler Lab
Gene Symbol Cilk1
Ensembl Gene ENSMUSG00000009828
Gene Name ciliogenesis associated kinase 1
Synonyms 2210420N10Rik, Ick
MMRRC Submission 045138-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # R7038 (G1)
Quality Score 57.0073
Status Validated
Chromosome 9
Chromosomal Location 78016474-78079389 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 78016484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001402] [ENSMUST00000009972] [ENSMUST00000044551] [ENSMUST00000085311] [ENSMUST00000117330] [ENSMUST00000118869] [ENSMUST00000125615] [ENSMUST00000159099] [ENSMUST00000162625]
AlphaFold Q9JKV2
Predicted Effect probably benign
Transcript: ENSMUST00000001402
SMART Domains Protein: ENSMUSP00000001402
Gene: ENSMUSG00000001366

DomainStartEndE-ValueType
Pfam:F-box 176 228 5.3e-9 PFAM
Pfam:F-box-like 178 229 3.7e-11 PFAM
Blast:HNHc 347 399 1e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000009972
Predicted Effect probably benign
Transcript: ENSMUST00000044551
SMART Domains Protein: ENSMUSP00000048234
Gene: ENSMUSG00000009828

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 benign
Transcript: ENSMUST00000085311
SMART Domains Protein: ENSMUSP00000082419
Gene: ENSMUSG00000001366

DomainStartEndE-ValueType
Pfam:F-box 175 227 4.9e-9 PFAM
Pfam:F-box-like 177 228 4e-11 PFAM
Blast:HNHc 346 398 1e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000117330
SMART Domains Protein: ENSMUSP00000113655
Gene: ENSMUSG00000009828

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 benign
Transcript: ENSMUST00000118869
SMART Domains Protein: ENSMUSP00000112961
Gene: ENSMUSG00000009828

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 benign
Transcript: ENSMUST00000125615
Predicted Effect probably benign
Transcript: ENSMUST00000159099
Predicted Effect probably benign
Transcript: ENSMUST00000162625
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (101/102)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,468,979 (GRCm39) S748P possibly damaging Het
Alppl2 T C 1: 87,016,833 (GRCm39) D104G probably damaging Het
Als2 C A 1: 59,206,673 (GRCm39) W1590L possibly damaging Het
Aopep G T 13: 63,338,339 (GRCm39) V571F possibly damaging Het
Aplf C T 6: 87,630,805 (GRCm39) W210* probably null Het
Ash1l A T 3: 88,889,978 (GRCm39) H619L probably benign Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Bpifb1 G T 2: 154,044,589 (GRCm39) V19F probably damaging Het
Capn1 A T 19: 6,064,349 (GRCm39) L50Q probably benign Het
Carmil1 A G 13: 24,323,318 (GRCm39) S245P probably damaging Het
Cavin4 A G 4: 48,672,479 (GRCm39) H308R probably benign Het
Cd4 C T 6: 124,847,217 (GRCm39) V316M probably damaging Het
Cdcp1 T C 9: 123,002,662 (GRCm39) Y803C probably damaging Het
Cep295nl A G 11: 118,223,815 (GRCm39) I343T probably benign Het
Cgn T G 3: 94,670,392 (GRCm39) T1021P possibly damaging Het
Col6a5 A G 9: 105,822,937 (GRCm39) V140A unknown Het
Cops8 T C 1: 90,531,320 (GRCm39) probably benign Het
Crhbp A G 13: 95,580,699 (GRCm39) Y54H probably damaging Het
Cyp2c29 G A 19: 39,275,571 (GRCm39) V4I probably benign Het
Cyp2j6 T A 4: 96,423,708 (GRCm39) Y220F probably benign Het
D130043K22Rik A G 13: 25,077,391 (GRCm39) D1008G probably damaging Het
Ddx47 T A 6: 135,000,336 (GRCm39) V444E possibly damaging Het
Dnttip2 T A 3: 122,070,181 (GRCm39) C465* probably null Het
Dst C A 1: 34,221,879 (GRCm39) S2561* probably null Het
Dstyk T C 1: 132,381,847 (GRCm39) S534P probably benign Het
Eif4e A G 3: 138,232,943 (GRCm39) probably benign Het
Eipr1 C T 12: 28,801,817 (GRCm39) probably benign Het
Fastkd2 T A 1: 63,771,032 (GRCm39) D129E possibly damaging Het
Fndc3b C T 3: 27,555,618 (GRCm39) G312D probably benign Het
Gab2 T A 7: 96,952,290 (GRCm39) I562N probably damaging Het
Gata5 C A 2: 179,975,685 (GRCm39) D160Y possibly damaging Het
Gcn1 G A 5: 115,749,203 (GRCm39) V1912I probably damaging Het
Gdf5 C A 2: 155,786,655 (GRCm39) Q107H probably damaging Het
Gdpd1 A G 11: 86,926,118 (GRCm39) Y276H probably damaging Het
Gins1 A G 2: 150,759,791 (GRCm39) Y81C probably damaging Het
Gm28360 T C 1: 117,781,329 (GRCm39) C107R probably damaging Het
Hadha T C 5: 30,324,998 (GRCm39) probably null Het
Hcn4 A T 9: 58,730,867 (GRCm39) I25F unknown Het
Hectd4 A G 5: 121,437,660 (GRCm39) Y1095C possibly damaging Het
Hsp90b1 A T 10: 86,531,730 (GRCm39) L73Q probably damaging Het
Hspa12a A G 19: 58,793,132 (GRCm39) V351A probably damaging Het
Htr1b T A 9: 81,514,296 (GRCm39) M104L probably benign Het
Igf2r T C 17: 12,917,212 (GRCm39) T1563A probably benign Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Liph A T 16: 21,795,009 (GRCm39) V201E probably damaging Het
Ltn1 T C 16: 87,221,759 (GRCm39) D196G probably damaging Het
Med15 C T 16: 17,470,591 (GRCm39) D589N possibly damaging Het
Mknk1 A G 4: 115,714,307 (GRCm39) D26G probably damaging Het
Mpi T C 9: 57,452,500 (GRCm39) D344G probably damaging Het
Mrc2 A G 11: 105,223,062 (GRCm39) E435G possibly damaging Het
Mrps5 A G 2: 127,442,786 (GRCm39) E285G probably damaging Het
Ms4a20 A T 19: 11,087,675 (GRCm39) F85L probably benign Het
Muc16 T A 9: 18,531,764 (GRCm39) M6197L probably damaging Het
Myo3b A T 2: 69,925,552 (GRCm39) E34D probably benign Het
Nsd3 T C 8: 26,131,279 (GRCm39) S215P probably damaging Het
Nsmce2 T A 15: 59,368,679 (GRCm39) probably benign Het
Ntan1 T C 16: 13,644,774 (GRCm39) S37P probably benign Het
Nup210l T A 3: 90,067,254 (GRCm39) Y765N probably damaging Het
Or10q12 A T 19: 13,745,715 (GRCm39) D3V probably benign Het
Or2aa1 T C 11: 59,480,408 (GRCm39) Y169C possibly damaging Het
Or4s2b A T 2: 88,509,085 (GRCm39) R288S probably damaging Het
Or7g30 A C 9: 19,352,888 (GRCm39) L226F possibly damaging Het
Pald1 T C 10: 61,175,078 (GRCm39) H724R probably benign Het
Pcdhb7 A T 18: 37,475,257 (GRCm39) D131V possibly damaging Het
Pds5b G T 5: 150,724,225 (GRCm39) R1269S probably benign Het
Pikfyve T C 1: 65,273,520 (GRCm39) V645A probably damaging Het
Plag1 G T 4: 3,904,676 (GRCm39) H172N probably damaging Het
Plch2 G C 4: 155,074,489 (GRCm39) probably null Het
Plxnb1 T A 9: 108,929,453 (GRCm39) V103E probably damaging Het
Prpf8 T A 11: 75,386,984 (GRCm39) M1143K probably benign Het
Ptpn18 T A 1: 34,498,906 (GRCm39) M1K probably null Het
Rasgrf2 G A 13: 92,130,952 (GRCm39) T703I possibly damaging Het
Rassf6 A T 5: 90,757,584 (GRCm39) H125Q probably benign Het
Sdad1 A G 5: 92,446,049 (GRCm39) probably null Het
Sf3a3 T A 4: 124,622,219 (GRCm39) F426L probably benign Het
Sgsm3 T C 15: 80,892,576 (GRCm39) F6L possibly damaging Het
Slc14a2 A T 18: 78,202,252 (GRCm39) I626N probably damaging Het
Slc17a8 T C 10: 89,436,083 (GRCm39) N165S probably benign Het
Slc41a1 C A 1: 131,769,795 (GRCm39) A305D possibly damaging Het
Smyd4 C A 11: 75,281,340 (GRCm39) P271Q probably damaging Het
Spag17 C A 3: 99,891,925 (GRCm39) H260N probably benign Het
Spata2 A T 2: 167,327,283 (GRCm39) V38E possibly damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Syt14 T A 1: 192,665,966 (GRCm39) probably benign Het
Tbx21 A G 11: 96,990,597 (GRCm39) S329P probably damaging Het
Tex2 A T 11: 106,402,726 (GRCm39) probably null Het
Tmem62 A G 2: 120,824,058 (GRCm39) I244M possibly damaging Het
Tnks A T 8: 35,318,790 (GRCm39) N830K probably damaging Het
Tox2 A G 2: 163,156,264 (GRCm39) E145G probably damaging Het
Tpcn1 T C 5: 120,723,342 (GRCm39) D7G probably damaging Het
Ttc28 T A 5: 111,414,445 (GRCm39) M1320K probably benign Het
Tubgcp5 T G 7: 55,455,114 (GRCm39) V270G probably damaging Het
Unc5a A G 13: 55,152,297 (GRCm39) R62G probably damaging Het
Unc5d A G 8: 29,205,749 (GRCm39) probably null Het
Utrn T C 10: 12,558,082 (GRCm39) H1459R probably damaging Het
Vmn2r100 T A 17: 19,725,263 (GRCm39) L64Q possibly damaging Het
Wdr55 T G 18: 36,893,473 (GRCm39) L45R probably damaging Het
Zfp292 A G 4: 34,816,357 (GRCm39) Y306H probably damaging Het
Zfp398 G T 6: 47,843,243 (GRCm39) D300Y probably damaging Het
Zfp407 A G 18: 84,579,982 (GRCm39) V377A probably damaging Het
Zfp457 G A 13: 67,441,997 (GRCm39) H97Y probably benign Het
Zfp467 T C 6: 48,415,072 (GRCm39) T527A probably 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
BB011: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
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'- AAAACGTACGCTCATGTGTG -3'
(R):5'- AATGTAGCGTCCTGGCTGTTAG -3'

Sequencing Primer
(F):5'- TACGCTCATGTGTGCAGCC -3'
(R):5'- CGTCCTGGCTGTTAGGTTCTAAC -3'
Posted On 2019-07-11