Incidental Mutation 'R7783:Cilk1'
ID 599387
Institutional Source Beutler Lab
Gene Symbol Cilk1
Ensembl Gene ENSMUSG00000009828
Gene Name ciliogenesis associated kinase 1
Synonyms 2210420N10Rik, Ick
MMRRC Submission 045839-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # R7783 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 78016474-78079389 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78042927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 51 (V51F)
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: V51F

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048234
Gene: ENSMUSG00000009828
AA Change: V51F

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: V51F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113655
Gene: ENSMUSG00000009828
AA Change: V51F

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: V51F

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112961
Gene: ENSMUSG00000009828
AA Change: V51F

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,216,875 (GRCm39) Y447* probably null Het
Abl2 T C 1: 156,386,641 (GRCm39) V8A probably benign Het
Adam33 C T 2: 130,900,257 (GRCm39) R103K unknown Het
Adamts13 G T 2: 26,880,597 (GRCm39) A727S not run Het
Ajm1 A T 2: 25,467,820 (GRCm39) L697Q probably damaging Het
Alpk2 A T 18: 65,439,325 (GRCm39) C689* probably null Het
Amt C T 9: 108,174,414 (GRCm39) Q60* probably null Het
Ankrd12 A G 17: 66,334,245 (GRCm39) probably null Het
Ankrd28 A T 14: 31,428,770 (GRCm39) N920K probably damaging Het
Ankrd36 T C 11: 5,585,359 (GRCm39) L390P probably damaging Het
Arvcf T G 16: 18,207,063 (GRCm39) H7Q probably benign Het
Asns A G 6: 7,677,978 (GRCm39) S367P probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
C7 T A 15: 5,037,192 (GRCm39) H562L probably benign Het
Ccdc77 T C 6: 120,327,334 (GRCm39) D37G probably damaging Het
Cdc14a C T 3: 116,198,236 (GRCm39) A58T probably damaging Het
Cdc42bpb C T 12: 111,302,459 (GRCm39) probably null Het
Corin A T 5: 72,458,967 (GRCm39) F1068L probably benign Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Ercc3 T A 18: 32,381,296 (GRCm39) S371T probably damaging Het
Fam193a A C 5: 34,588,524 (GRCm39) K358Q probably damaging Het
Fem1a G A 17: 56,564,522 (GRCm39) C205Y probably benign Het
Fh1 G A 1: 175,439,744 (GRCm39) T233M probably damaging Het
Ftsj3 CCTTCTTCTTCTTCTTCT CCTTCTTCTTCTTCT 11: 106,143,377 (GRCm39) probably benign Het
Gabra6 T C 11: 42,207,289 (GRCm39) N265S probably damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Grm6 T A 11: 50,753,909 (GRCm39) C738S probably damaging Het
Gtsf1 C T 15: 103,336,996 (GRCm39) probably benign Het
Hcrtr2 T A 9: 76,140,196 (GRCm39) Y364F probably damaging Het
Ifit1bl1 T C 19: 34,571,336 (GRCm39) I374V probably benign Het
Il31ra A T 13: 112,677,785 (GRCm39) F250L probably benign Het
Iqgap1 A G 7: 80,458,807 (GRCm39) V37A probably benign Het
Izumo3 A T 4: 92,033,260 (GRCm39) I182K probably damaging Het
Kidins220 G A 12: 25,038,555 (GRCm39) A36T probably damaging Het
Lrrtm1 G T 6: 77,221,236 (GRCm39) R231L probably damaging Het
Mical2 A T 7: 112,012,183 (GRCm39) S678C probably damaging Het
Mme T G 3: 63,272,288 (GRCm39) F629C probably damaging Het
Muc5b T A 7: 141,411,078 (GRCm39) H1341Q unknown Het
Or13a28 A G 7: 140,217,637 (GRCm39) T8A possibly damaging Het
Or13p5 T A 4: 118,592,099 (GRCm39) D124E probably damaging Het
Or2y1e A G 11: 49,219,029 (GRCm39) S264G probably benign Het
Or5e1 A T 7: 108,354,776 (GRCm39) T238S probably damaging Het
Or5p70 A G 7: 107,995,296 (GRCm39) H323R probably benign Het
Parm1 A T 5: 91,741,724 (GRCm39) M31L probably benign Het
Pcdhb18 G A 18: 37,622,874 (GRCm39) C68Y probably benign Het
Pkn3 A T 2: 29,969,634 (GRCm39) E35V probably damaging Het
Pla2g4a A T 1: 149,748,495 (GRCm39) Y238N probably damaging Het
Pld6 T C 11: 59,678,097 (GRCm39) D122G probably damaging Het
Prag1 G T 8: 36,570,409 (GRCm39) A331S possibly damaging Het
Rbm44 A G 1: 91,096,551 (GRCm39) D970G probably benign Het
Rps6kc1 A G 1: 190,505,851 (GRCm39) V1037A probably benign Het
Slc12a7 T C 13: 73,953,588 (GRCm39) V766A probably benign Het
Spata18 A G 5: 73,825,953 (GRCm39) T87A Het
St3gal3 T C 4: 117,797,320 (GRCm39) M308V probably benign Het
Stx19 T C 16: 62,642,649 (GRCm39) L155S probably benign Het
Tespa1 A T 10: 130,192,752 (GRCm39) T145S probably damaging Het
Timm21 A C 18: 84,965,846 (GRCm39) F221V possibly damaging Het
Tlr1 A T 5: 65,082,264 (GRCm39) F771Y probably damaging Het
Tmem150a C A 6: 72,335,606 (GRCm39) L125I unknown Het
Try4 T C 6: 41,279,229 (GRCm39) L4P possibly damaging Het
Txlna C T 4: 129,525,950 (GRCm39) R299H probably damaging Het
Txndc16 A T 14: 45,382,417 (GRCm39) N609K probably benign Het
Upf1 T C 8: 70,805,508 (GRCm39) T46A probably benign Het
Zfp266 T C 9: 20,411,626 (GRCm39) N184D probably benign Het
Zfp407 A G 18: 84,228,047 (GRCm39) V1854A possibly damaging Het
Zfp626 T A 7: 27,517,795 (GRCm39) C259S 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
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
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
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'- CCAACGTTGGTTAGGTTCAGG -3'
(R):5'- TAAGTAACGCTGCGCTCTC -3'

Sequencing Primer
(F):5'- ACATTTGAATCCCCTGGAGATGG -3'
(R):5'- TCCTGCTGTCAGACACCAACTG -3'
Posted On 2019-11-26