Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Cilk1'

253910

Institutional Source

Beutler Lab

Gene Symbol

Cilk1

Ensembl Gene

ENSMUSG00000009828

Gene Name

ciliogenesis associated kinase 1

Synonyms

2210420N10Rik, Ick

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78016474-78079389 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 78047382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112961 (fasta)

Gene Model

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 94.5%
20x: 80.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	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
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
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'- TGGCACCTTCTCACTTGGAG -3'
(R):5'- ACAAAAGGCATGTCTACTTTGC -3'

Sequencing Primer
(F):5'- CACTTGGAGACTAGACACTGTTC -3'
(R):5'- GAGGACCCTTGAGAATTCAGTTCC -3'

Posted On

2014-12-04