Mutagenetix > Incidental Mutation

Incidental Mutation 'R0471:Cilk1'

46765

Institutional Source

Beutler Lab

Gene Symbol

Cilk1

Ensembl Gene

ENSMUSG00000009828

Gene Name

ciliogenesis associated kinase 1

Synonyms

2210420N10Rik, Ick

MMRRC Submission

038671-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R0471 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

78016474-78079389 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 78062799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044551] [ENSMUST00000117330] [ENSMUST00000117330] [ENSMUST00000118869]

AlphaFold

Q9JKV2

Predicted Effect

probably null
Transcript: ENSMUST00000044551

SMART Domains

Protein: ENSMUSP00000048234
Gene: ENSMUSG00000009828

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 null
Transcript: ENSMUST00000117330

SMART Domains

Protein: ENSMUSP00000113655
Gene: ENSMUSG00000009828

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 null
Transcript: ENSMUST00000117330

SMART Domains

Protein: ENSMUSP00000113655
Gene: ENSMUSG00000009828

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 null
Transcript: ENSMUST00000118869

SMART Domains

Protein: ENSMUSP00000112961
Gene: ENSMUSG00000009828

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

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (67/67)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,075,891 (GRCm39)		probably null	Het
Adam33	C	A	2: 130,896,399 (GRCm39)	G437C	probably damaging	Het
Aldh1a1	T	A	19: 20,579,377 (GRCm39)	M1K	probably null	Het
Amotl2	C	A	9: 102,597,718 (GRCm39)	P126Q	probably damaging	Het
Ap1g1	T	A	8: 110,580,275 (GRCm39)	M576K	possibly damaging	Het
Apob	C	A	12: 8,040,406 (GRCm39)	A581E	probably damaging	Het
Asb7	A	T	7: 66,328,907 (GRCm39)	D44E	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
C9orf72	G	A	4: 35,193,257 (GRCm39)	T232I	probably benign	Het
Ccdc65	A	T	15: 98,615,348 (GRCm39)	H118L	probably benign	Het
Cdc25b	A	G	2: 131,039,204 (GRCm39)	E523G	probably damaging	Het
Cdk11b	A	G	4: 155,731,999 (GRCm39)		probably benign	Het
Clec1b	A	G	6: 129,378,570 (GRCm39)		probably benign	Het
Cntrl	A	G	2: 35,017,392 (GRCm39)	T400A	probably benign	Het
Cpne4	T	G	9: 104,899,481 (GRCm39)		probably null	Het
Cyp2j6	T	A	4: 96,419,985 (GRCm39)	R249*	probably null	Het
Dock2	T	C	11: 34,579,380 (GRCm39)	I678V	probably benign	Het
Dqx1	C	T	6: 83,036,407 (GRCm39)		probably benign	Het
Dsp	A	T	13: 38,377,326 (GRCm39)	K1704*	probably null	Het
Eif2b2	T	C	12: 85,266,957 (GRCm39)	F121S	probably benign	Het
Ephx4	T	C	5: 107,561,379 (GRCm39)	V69A	possibly damaging	Het
Epn2	T	C	11: 61,426,134 (GRCm39)	Q281R	probably damaging	Het
Fgf3	A	C	7: 144,396,547 (GRCm39)	D187A	probably damaging	Het
Galnt18	C	A	7: 111,378,506 (GRCm39)		probably benign	Het
Gm4871	C	T	5: 144,968,402 (GRCm39)		probably benign	Het
Inpp4b	T	C	8: 82,768,528 (GRCm39)	I679T	possibly damaging	Het
Itpkb	A	G	1: 180,245,820 (GRCm39)	E779G	probably damaging	Het
Itsn1	G	A	16: 91,696,477 (GRCm39)	V27M	probably damaging	Het
Lrp2	C	A	2: 69,355,578 (GRCm39)	R422L	probably damaging	Het
Mmp25	G	A	17: 23,858,858 (GRCm39)	A231V	possibly damaging	Het
Mprip	T	C	11: 59,650,561 (GRCm39)	S1422P	probably damaging	Het
Mro	A	T	18: 74,009,860 (GRCm39)	Q176L	probably benign	Het
Mrpl12	A	G	11: 120,379,229 (GRCm39)	E192G	probably damaging	Het
Myo5b	A	T	18: 74,862,025 (GRCm39)		probably benign	Het
Ncam2	G	T	16: 80,997,772 (GRCm39)		probably benign	Het
Nip7	T	C	8: 107,783,949 (GRCm39)	L63P	probably damaging	Het
Nsd3	T	C	8: 26,138,450 (GRCm39)		probably benign	Het
Nup98	A	T	7: 101,788,004 (GRCm39)	V1022D	probably benign	Het
Or2y1e	T	A	11: 49,218,744 (GRCm39)	C169S	probably damaging	Het
Or5d43	A	G	2: 88,104,559 (GRCm39)	V278A	possibly damaging	Het
Or5h22	A	G	16: 58,894,633 (GRCm39)	I270T	probably benign	Het
Or7g28	A	T	9: 19,272,177 (GRCm39)	L158*	probably null	Het
P4ha2	T	C	11: 54,008,434 (GRCm39)	Y214H	possibly damaging	Het
Pacrg	A	T	17: 10,795,407 (GRCm39)	F184L	possibly damaging	Het
Parpbp	T	A	10: 87,929,569 (GRCm39)	R426S	probably damaging	Het
Pcdhb5	T	A	18: 37,454,359 (GRCm39)	Y246*	probably null	Het
Pik3cg	T	A	12: 32,244,770 (GRCm39)	T895S	probably damaging	Het
Prkch	T	C	12: 73,738,426 (GRCm39)	Y178H	probably benign	Het
Rusc2	G	T	4: 43,425,486 (GRCm39)	R1197L	probably damaging	Het
Svep1	T	C	4: 58,054,700 (GRCm39)	E3296G	possibly damaging	Het
Svs3a	A	G	2: 164,131,801 (GRCm39)	K123R	probably benign	Het
Sycp2l	A	G	13: 41,304,006 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,909,685 (GRCm39)	H717R	probably benign	Het
Tiprl	A	G	1: 165,050,092 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,892,130 (GRCm39)	V151G	possibly damaging	Het
Trim33	T	C	3: 103,234,217 (GRCm39)	V56A	possibly damaging	Het
Trim67	C	A	8: 125,521,397 (GRCm39)	T253K	probably benign	Het
Trip12	T	C	1: 84,703,928 (GRCm39)	E698G	probably damaging	Het
Tspan14	T	C	14: 40,637,353 (GRCm39)	D145G	probably damaging	Het
Ushbp1	G	A	8: 71,847,021 (GRCm39)	Q204*	probably null	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r75	G	T	7: 85,814,721 (GRCm39)	N257K	probably benign	Het
Washc4	T	C	10: 83,394,598 (GRCm39)		probably benign	Het
Zc3h7b	G	A	15: 81,666,169 (GRCm39)	D560N	probably damaging	Het
Zscan21	T	C	5: 138,123,402 (GRCm39)	V27A	probably benign	Het
Zzef1	A	C	11: 72,813,937 (GRCm39)	E2842A	probably damaging	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
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'- GCGAATAGTCTGAGCGCCATTTCC -3'
(R):5'- GCTGACAGGTACACGGGTCTTTTC -3'

Sequencing Primer
(F):5'- GAGCGCCATTTCCTGTCTTTTC -3'
(R):5'- catttcaaatgttatcccgtccc -3'

Posted On

2013-06-11