Incidental Mutation 'R6199:Cilk1'
ID 503105
Institutional Source Beutler Lab
Gene Symbol Cilk1
Ensembl Gene ENSMUSG00000009828
Gene Name ciliogenesis associated kinase 1
Synonyms 2210420N10Rik, Ick
MMRRC Submission 044339-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # R6199 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 78016474-78079389 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78071921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 531 (V531A)
Ref Sequence ENSEMBL: ENSMUSP00000112961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044551] [ENSMUST00000117330] [ENSMUST00000118869]
AlphaFold Q9JKV2
Predicted Effect probably benign
Transcript: ENSMUST00000044551
AA Change: V531A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000048234
Gene: ENSMUSG00000009828
AA Change: V531A

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 unknown
Transcript: ENSMUST00000117330
AA Change: V531A
SMART Domains Protein: ENSMUSP00000113655
Gene: ENSMUSG00000009828
AA Change: V531A

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
AA Change: V531A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112961
Gene: ENSMUSG00000009828
AA Change: V531A

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 noncoding transcript
Transcript: ENSMUST00000142402
Meta Mutation Damage Score 0.0578 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A T 12: 88,407,887 (GRCm39) D206V possibly damaging Het
Ank2 T A 3: 126,797,655 (GRCm39) D685V probably damaging Het
Baz2b A G 2: 59,809,019 (GRCm39) S77P probably benign Het
Ccdc194 T C 8: 71,978,109 (GRCm39) N83D probably benign Het
Ceacam5 A T 7: 17,448,810 (GRCm39) T59S probably benign Het
Cemip2 G A 19: 21,822,186 (GRCm39) G1194S probably benign Het
Ces1e A C 8: 93,944,163 (GRCm39) F218L probably damaging Het
Cps1 TGTCCATTGGTC TGTC 1: 67,201,774 (GRCm39) probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eftud2 A T 11: 102,730,883 (GRCm39) V843E probably damaging Het
Fuca2 G T 10: 13,381,783 (GRCm39) W232L probably damaging Het
Gdf7 T C 12: 8,348,832 (GRCm39) D155G unknown Het
Ggcx G T 6: 72,407,122 (GRCm39) V753F possibly damaging Het
Ghrhr A T 6: 55,356,173 (GRCm39) T89S probably benign Het
Gpr151 T C 18: 42,711,619 (GRCm39) K353R probably benign Het
Gpr75 T C 11: 30,841,527 (GRCm39) L144P probably damaging Het
Gsdmc2 A G 15: 63,696,962 (GRCm39) I403T probably benign Het
H2-M1 A G 17: 36,982,059 (GRCm39) S181P probably benign Het
Igsf5 C T 16: 96,222,939 (GRCm39) S61L possibly damaging Het
Insc A T 7: 114,390,401 (GRCm39) probably null Het
Izumo4 G A 10: 80,538,707 (GRCm39) G53D probably damaging Het
Ksr1 G A 11: 78,911,267 (GRCm39) P693S possibly damaging Het
Lgals4 G A 7: 28,535,317 (GRCm39) R27H probably damaging Het
Lpcat2b A G 5: 107,581,171 (GRCm39) R167G probably benign Het
Man1a C T 10: 53,890,552 (GRCm39) V288I possibly damaging Het
Map2 T G 1: 66,464,637 (GRCm39) S1676A probably damaging Het
Mbl1 G T 14: 40,875,572 (GRCm39) V9F unknown Het
Mrgprb8 T A 7: 48,039,051 (GRCm39) C241S probably benign Het
Mrpl2 T C 17: 46,960,012 (GRCm39) L227P probably damaging Het
Mthfd1 T A 12: 76,335,685 (GRCm39) V253E probably damaging Het
Mthfd1 A G 12: 76,350,454 (GRCm39) H464R probably damaging Het
Mug2 T A 6: 122,024,398 (GRCm39) M490K probably benign Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Notch1 A G 2: 26,359,911 (GRCm39) V1268A probably damaging Het
Or6b2b A T 1: 92,419,264 (GRCm39) I71N possibly damaging Het
Or8b12c C A 9: 37,716,177 (GRCm39) probably null Het
Pgm1 A T 4: 99,836,151 (GRCm39) I412F probably damaging Het
Plaur A T 7: 24,164,628 (GRCm39) Q44L possibly damaging Het
Ppara T C 15: 85,671,434 (GRCm39) Y112H probably damaging Het
Ppm1h G A 10: 122,756,644 (GRCm39) V430M probably damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Prph A G 15: 98,954,713 (GRCm39) T35A probably benign Het
Prrc2c C T 1: 162,510,085 (GRCm39) G780S probably damaging Het
Ptchd3 T A 11: 121,721,908 (GRCm39) N260K probably benign Het
Ptprz1 A G 6: 23,002,470 (GRCm39) D1520G probably benign Het
Samd9l T A 6: 3,376,686 (GRCm39) I192L probably benign Het
Slc39a10 T C 1: 46,874,993 (GRCm39) D103G probably damaging Het
Smndc1 G A 19: 53,372,063 (GRCm39) T117M probably benign Het
Tesk2 A G 4: 116,649,367 (GRCm39) D159G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn2r108 A T 17: 20,682,644 (GRCm39) N853K probably benign Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q 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
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'- GAGCTCCTGGTCTCCTTATGAC -3'
(R):5'- CCCTAGGGCTGCTACAAAAG -3'

Sequencing Primer
(F):5'- ATCCTTCGTGTAGATGTACCATTG -3'
(R):5'- GCTGCTACAAAAGGGAGAGC -3'
Posted On 2018-02-27