Mutagenetix > Incidental Mutation

Incidental Mutation 'R4737:Cilk1'

359350

Institutional Source

Beutler Lab

Gene Symbol

Cilk1

Ensembl Gene

ENSMUSG00000009828

Gene Name

ciliogenesis associated kinase 1

Synonyms

2210420N10Rik, Ick

MMRRC Submission

042024-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R4737 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78016474-78079389 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78057936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 162 (T162A)

Ref Sequence

ENSEMBL: ENSMUSP00000113655 (fasta)

Gene Model

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

AlphaFold

Q9JKV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000044551
AA Change: T162A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048234
Gene: ENSMUSG00000009828
AA Change: T162A

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 damaging
Transcript: ENSMUST00000117330
AA Change: T162A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113655
Gene: ENSMUSG00000009828
AA Change: T162A

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 damaging
Transcript: ENSMUST00000118869
AA Change: T162A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112961
Gene: ENSMUSG00000009828
AA Change: T162A

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

0.7871

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (94/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	A	G	1: 181,055,384 (GRCm39)		noncoding transcript	Het
Acp2	A	T	2: 91,041,068 (GRCm39)	R419W	probably benign	Het
Actr5	A	G	2: 158,469,991 (GRCm39)	N207S	probably damaging	Het
Afap1	G	A	5: 36,119,126 (GRCm39)	V254M	probably benign	Het
Arfgef1	A	T	1: 10,259,836 (GRCm39)	M544K	possibly damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Bnip3l-ps	G	A	12: 18,266,773 (GRCm39)		noncoding transcript	Het
Carf	A	G	1: 60,148,477 (GRCm39)	T58A	probably benign	Het
Carns1	A	G	19: 4,220,927 (GRCm39)		probably benign	Het
Ccp110	T	A	7: 118,323,771 (GRCm39)	I670K	possibly damaging	Het
Cftr	T	A	6: 18,299,882 (GRCm39)	D1218E	probably benign	Het
Chrna9	A	T	5: 66,125,214 (GRCm39)	T52S	probably damaging	Het
Chst9	T	C	18: 15,585,834 (GRCm39)	Y243C	probably damaging	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Clk2	A	T	3: 89,076,016 (GRCm39)	H62L	probably benign	Het
Cntnap2	A	T	6: 45,037,251 (GRCm39)	R10W	possibly damaging	Het
Cpt1b	C	T	15: 89,305,609 (GRCm39)	D369N	probably benign	Het
Crhr2	G	T	6: 55,068,290 (GRCm39)	H423Q	probably damaging	Het
D8Ertd738e	T	A	8: 84,976,150 (GRCm39)	I33F	probably damaging	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Ddhd1	A	T	14: 45,866,278 (GRCm39)		probably benign	Het
Ddx27	A	G	2: 166,871,219 (GRCm39)	I480V	probably benign	Het
Dpp9	A	C	17: 56,505,970 (GRCm39)		probably null	Het
Dpy19l3	A	T	7: 35,402,926 (GRCm39)	M562K	probably damaging	Het
Dus3l	T	C	17: 57,074,868 (GRCm39)	L330P	probably damaging	Het
Efcab7	C	T	4: 99,719,805 (GRCm39)	Q96*	probably null	Het
Egfr	T	C	11: 16,819,231 (GRCm39)	F254L	probably damaging	Het
Eml5	C	T	12: 98,765,111 (GRCm39)	V1566M	probably damaging	Het
Entpd7	T	A	19: 43,679,634 (GRCm39)	Y62*	probably null	Het
Erbb4	T	C	1: 68,383,059 (GRCm39)	M313V	probably damaging	Het
Gm5528	A	G	1: 72,043,711 (GRCm39)		noncoding transcript	Het
H2-M9	G	T	17: 36,951,631 (GRCm39)	Y281*	probably null	Het
Hmcn1	T	G	1: 150,565,346 (GRCm39)	K2260N	possibly damaging	Het
Hnf4a	A	G	2: 163,406,139 (GRCm39)	I259V	probably benign	Het
Insm1	A	T	2: 146,064,822 (GRCm39)	T213S	probably benign	Het
Iqca1	T	C	1: 90,005,544 (GRCm39)	D488G	probably damaging	Het
Kdm5a	T	A	6: 120,382,976 (GRCm39)		probably benign	Het
Kdm7a	G	C	6: 39,129,773 (GRCm39)	L468V	possibly damaging	Het
Lck	G	A	4: 129,449,777 (GRCm39)	T229I	possibly damaging	Het
Lig3	T	C	11: 82,678,553 (GRCm39)	L265P	probably damaging	Het
Lipa	T	A	19: 34,479,034 (GRCm39)	K229*	probably null	Het
Lrrk1	C	T	7: 65,956,621 (GRCm39)	S418N	probably benign	Het
Mark2	A	G	19: 7,258,597 (GRCm39)	V126A	probably damaging	Het
Met	T	C	6: 17,491,540 (GRCm39)	C101R	probably damaging	Het
Mkln1	A	T	6: 31,403,734 (GRCm39)	K85M	probably damaging	Het
Mst1	A	G	9: 107,957,720 (GRCm39)	R15G	probably benign	Het
Muc6	T	G	7: 141,226,426 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo7b	T	C	18: 32,131,655 (GRCm39)	S514G	probably damaging	Het
Nars1	T	C	18: 64,649,498 (GRCm39)	E11G	probably benign	Het
Ogdh	T	A	11: 6,247,044 (GRCm39)	F23I	probably benign	Het
Or10g9	A	T	9: 39,911,718 (GRCm39)	D268E	probably damaging	Het
Or12e9	T	C	2: 87,202,665 (GRCm39)	I263T	probably damaging	Het
Or4a39	C	T	2: 89,236,830 (GRCm39)	V198I	probably benign	Het
Or4b1b	A	G	2: 90,112,725 (GRCm39)	S65P	probably damaging	Het
Or4c100	C	T	2: 88,356,569 (GRCm39)	S214F	probably damaging	Het
Or52r1c	C	T	7: 102,735,121 (GRCm39)	A127V	probably damaging	Het
Or9k2	T	A	10: 129,998,707 (GRCm39)	T163S	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Patl2	T	A	2: 121,955,787 (GRCm39)	T250S	probably damaging	Het
Pcdhac2	C	T	18: 37,278,952 (GRCm39)	T644I	possibly damaging	Het
Pi4kb	C	T	3: 94,911,649 (GRCm39)	T690I	probably damaging	Het
Pla2g4d	T	C	2: 120,097,271 (GRCm39)	Y776C	probably benign	Het
Plekhh2	C	T	17: 84,871,387 (GRCm39)	S215L	probably benign	Het
Psmd2	T	G	16: 20,478,565 (GRCm39)		probably benign	Het
Ptpn21	T	C	12: 98,675,103 (GRCm39)	E183G	probably benign	Het
Ptprg	T	A	14: 12,226,314 (GRCm38)	D527E	probably damaging	Het
Rhobtb1	T	A	10: 69,115,327 (GRCm39)		probably null	Het
Scel	T	A	14: 103,809,473 (GRCm39)	M271K	possibly damaging	Het
Senp3	A	T	11: 69,569,655 (GRCm39)	C310*	probably null	Het
Slc25a3	T	C	10: 90,958,050 (GRCm39)	T97A	possibly damaging	Het
Srsf11	A	T	3: 157,732,369 (GRCm39)	Y82*	probably null	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tbkbp1	T	C	11: 97,039,474 (GRCm39)	E145G	probably damaging	Het
Tln1	T	C	4: 43,540,588 (GRCm39)	N1471S	probably benign	Het
Tnn	T	G	1: 159,973,659 (GRCm39)	D236A	probably damaging	Het
Trmt2a	C	T	16: 18,069,150 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubxn10	G	A	4: 138,463,259 (GRCm39)		probably benign	Het
Ulk4	G	A	9: 120,902,938 (GRCm39)	Q1180*	probably null	Het
Usp43	T	A	11: 67,746,331 (GRCm39)	K1120N	probably damaging	Het
Uspl1	T	A	5: 149,131,149 (GRCm39)	L244Q	possibly damaging	Het
Vmn1r32	T	C	6: 66,530,629 (GRCm39)	H49R	probably damaging	Het
Vmn2r4	T	C	3: 64,317,384 (GRCm39)	D118G	probably damaging	Het
Vwce	A	G	19: 10,627,943 (GRCm39)	I468V	probably benign	Het
Zbtb7c	G	T	18: 76,279,225 (GRCm39)	R561L	probably benign	Het
Zfp956	T	C	6: 47,939,476 (GRCm39)	S175P	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
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
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'- AGTGTTTGAGCTGCAGAGAGC -3'
(R):5'- ATCTGCAGGGTTTGAACTACTTG -3'

Sequencing Primer
(F):5'- CAGTGCAGAGGGAGTGTGTG -3'
(R):5'- TGGAACTCACTATATAGACCAGGCTG -3'

Posted On

2015-11-11