Mutagenetix > Incidental Mutation

Incidental Mutation 'R1824:Cilk1'

206686

Institutional Source

Beutler Lab

Gene Symbol

Cilk1

Ensembl Gene

ENSMUSG00000009828

Gene Name

ciliogenesis associated kinase 1

Synonyms

2210420N10Rik, Ick

MMRRC Submission

039852-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R1824 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78016474-78079389 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78065144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 351 (D351E)

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: D351E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048234
Gene: ENSMUSG00000009828
AA Change: D351E

Domain	Start	End	E-Value	Type
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: ENSMUST00000117330
AA Change: D351E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113655
Gene: ENSMUSG00000009828
AA Change: D351E

Domain	Start	End	E-Value	Type
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: D351E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112961
Gene: ENSMUSG00000009828
AA Change: D351E

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,708,086 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	A	3: 59,840,001 (GRCm39)	Y24*	probably null	Het
Abl1	T	A	2: 31,690,656 (GRCm39)	M706K	probably benign	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Acd	A	G	8: 106,427,122 (GRCm39)	L96P	probably damaging	Het
Arsi	T	A	18: 61,045,369 (GRCm39)	W20R	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asic3	C	T	5: 24,618,749 (GRCm39)	Q14*	probably null	Het
Asxl3	T	A	18: 22,655,125 (GRCm39)	I1045N	probably damaging	Het
Atr	T	C	9: 95,818,474 (GRCm39)	I2149T	probably damaging	Het
Begain	A	G	12: 108,999,025 (GRCm39)		probably null	Het
Brca2	C	T	5: 150,460,387 (GRCm39)	T554I	possibly damaging	Het
Brd10	T	C	19: 29,693,814 (GRCm39)	N1960S	probably damaging	Het
C1s2	C	T	6: 124,612,641 (GRCm39)	V11I	probably benign	Het
Cacna1i	T	C	15: 80,260,990 (GRCm39)	F1333L	possibly damaging	Het
Camsap2	T	C	1: 136,201,521 (GRCm39)	T662A	possibly damaging	Het
Cep164	C	T	9: 45,690,226 (GRCm39)	V1367M	probably damaging	Het
Cfap46	C	A	7: 139,219,518 (GRCm39)	A1316S	probably benign	Het
Cic	T	C	7: 24,987,691 (GRCm39)	S553P	probably damaging	Het
Clcn2	C	T	16: 20,534,712 (GRCm39)	A12T	probably benign	Het
Clip2	A	G	5: 134,532,081 (GRCm39)	Y540H	probably benign	Het
Coil	A	G	11: 88,872,923 (GRCm39)	N428S	possibly damaging	Het
Cpxm1	A	C	2: 130,237,617 (GRCm39)	V196G	probably damaging	Het
Cr2	A	G	1: 194,839,624 (GRCm39)	V601A	probably damaging	Het
Cyp3a25	T	A	5: 145,921,763 (GRCm39)	K390N	probably damaging	Het
Dclre1a	T	C	19: 56,535,150 (GRCm39)		probably null	Het
Dennd4a	G	C	9: 64,766,640 (GRCm39)		probably null	Het
Dlg5	T	C	14: 24,199,512 (GRCm39)	H1464R	probably benign	Het
Dmac2	T	G	7: 25,324,217 (GRCm39)	M225R	probably damaging	Het
Dnah8	T	C	17: 30,950,154 (GRCm39)	V1991A	possibly damaging	Het
Dscam	A	C	16: 96,626,781 (GRCm39)	V376G	probably benign	Het
Dync1li1	A	G	9: 114,538,252 (GRCm39)	D203G	probably benign	Het
Eva1c	A	G	16: 90,663,331 (GRCm39)	T22A	probably benign	Het
Fam110b	A	G	4: 5,799,029 (GRCm39)	D149G	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Fsip1	T	C	2: 118,063,389 (GRCm39)	D360G	probably damaging	Het
Galnt14	T	C	17: 74,016,934 (GRCm39)	T41A	probably benign	Het
Gdf3	T	A	6: 122,586,921 (GRCm39)	Q2L	probably benign	Het
Glrp1	A	G	1: 88,437,511 (GRCm39)		probably null	Het
Gm3336	C	G	8: 71,173,066 (GRCm39)		probably null	Het
Gm8674	C	T	13: 50,054,844 (GRCm39)		noncoding transcript	Het
Gnat1	A	G	9: 107,553,774 (GRCm39)	Y226H	probably damaging	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
H1f8	A	G	6: 115,925,719 (GRCm39)	Y1C	probably null	Het
Igfbpl1	C	A	4: 45,826,406 (GRCm39)	A130S	probably benign	Het
Impdh1	T	A	6: 29,205,087 (GRCm39)	D261V	probably benign	Het
Itgal	T	A	7: 126,913,232 (GRCm39)	S610T	probably damaging	Het
Jcad	A	G	18: 4,649,293 (GRCm39)	T55A	probably benign	Het
Jup	G	A	11: 100,264,963 (GRCm39)	R663*	probably null	Het
Kalrn	C	T	16: 34,114,585 (GRCm39)	G556D	probably damaging	Het
Krt81	T	C	15: 101,358,020 (GRCm39)	E411G	probably damaging	Het
Lcat	T	C	8: 106,666,520 (GRCm39)	E334G	probably damaging	Het
Lhcgr	T	C	17: 89,057,585 (GRCm39)	E302G	probably benign	Het
Magi1	A	G	6: 93,676,620 (GRCm39)	V913A	possibly damaging	Het
Mrpl19	A	T	6: 81,941,060 (GRCm39)		probably null	Het
Muc4	G	T	16: 32,576,307 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo3a	G	A	2: 22,401,054 (GRCm39)	V600I	probably benign	Het
Ndufv3	G	A	17: 31,750,219 (GRCm39)	R467Q	probably damaging	Het
Ngef	A	G	1: 87,430,986 (GRCm39)		probably null	Het
Nisch	A	T	14: 30,898,389 (GRCm39)		probably benign	Het
Nlrp4c	G	A	7: 6,069,955 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,867,223 (GRCm39)	S154T	probably damaging	Het
Obscn	A	G	11: 58,885,658 (GRCm39)		probably benign	Het
Or2t1	T	A	14: 14,328,774 (GRCm38)	L221Q	probably damaging	Het
Or4a74	G	T	2: 89,439,693 (GRCm39)	P251H	probably damaging	Het
Or6c219	T	C	10: 129,781,206 (GRCm39)	M242V	possibly damaging	Het
Otogl	T	C	10: 107,615,692 (GRCm39)	N1869S	probably benign	Het
Phf24	G	T	4: 42,934,661 (GRCm39)	C136F	probably damaging	Het
Phldb2	A	T	16: 45,646,374 (GRCm39)	V65E	probably benign	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Prl8a8	A	T	13: 27,692,433 (GRCm39)	M186K	probably damaging	Het
Qars1	T	C	9: 108,391,809 (GRCm39)	V70A	probably damaging	Het
Rac1	C	T	5: 143,502,980 (GRCm39)	V14I	probably benign	Het
Rapgef5	T	A	12: 117,652,419 (GRCm39)		probably null	Het
Slc16a12	G	A	19: 34,648,278 (GRCm39)	T405M	possibly damaging	Het
Slc17a6	A	G	7: 51,311,294 (GRCm39)	Y336C	probably damaging	Het
Slc30a9	T	C	5: 67,505,395 (GRCm39)	L441P	probably damaging	Het
Slc45a2	T	C	15: 11,022,172 (GRCm39)	S305P	probably damaging	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Sp1	T	G	15: 102,339,438 (GRCm39)	S773A	possibly damaging	Het
Spen	C	A	4: 141,200,096 (GRCm39)	G2821C	probably damaging	Het
Tagap1	A	G	17: 7,223,425 (GRCm39)	S424P	probably benign	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Tfec	C	T	6: 16,840,467 (GRCm39)		probably null	Het
Thsd7a	A	T	6: 12,409,041 (GRCm39)		probably null	Het
Tnfsf15	C	A	4: 63,651,588 (GRCm39)	G112V	probably benign	Het
Tnfsf9	A	G	17: 57,412,738 (GRCm39)	T103A	probably benign	Het
Tnxb	C	T	17: 34,911,307 (GRCm39)	R1537*	probably null	Het
Tpra1	A	G	6: 88,888,805 (GRCm39)	N329S	probably benign	Het
Ttc12	A	G	9: 49,368,184 (GRCm39)	F281S	probably damaging	Het
Unc79	A	G	12: 103,025,579 (GRCm39)	N322S	probably damaging	Het
Unk	G	T	11: 115,921,268 (GRCm39)		probably benign	Het
Usp4	G	T	9: 108,225,207 (GRCm39)	G31W	probably damaging	Het
Vcan	G	T	13: 89,853,331 (GRCm39)	A543D	possibly damaging	Het
Vil1	A	C	1: 74,457,606 (GRCm39)	I80L	probably benign	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Vpreb1a	A	G	16: 16,686,935 (GRCm39)		probably null	Het
Zbtb6	C	T	2: 37,319,829 (GRCm39)	C33Y	probably damaging	Het
Zfp330	A	T	8: 83,492,644 (GRCm39)	C189*	probably null	Het
Zfp942	T	A	17: 22,147,522 (GRCm39)	H369L	probably damaging	Het
Zfp943	T	A	17: 22,211,361 (GRCm39)	I149K	probably benign	Het
Zfyve19	G	A	2: 119,042,016 (GRCm39)	V162M	probably benign	Het

Other mutations in Cilk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGGGCATCATCAGCAAGGAC -3'
(R):5'- ACAACACCATGGTACTGTGAAG -3'

Sequencing Primer
(F):5'- GCATCATCAGCAAGGACTCAGG -3'
(R):5'- CACCATGGTACTGTGAAGATAAATG -3'

Posted On

2014-06-23