Mutagenetix > Incidental Mutation

Incidental Mutation 'R5837:Ilk'

449650

Institutional Source

Beutler Lab

Gene Symbol

Ilk

Ensembl Gene

ENSMUSG00000030890

Gene Name

integrin linked kinase

Synonyms

ESTM24

MMRRC Submission

044057-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105385799-105392132 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 105390378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033179] [ENSMUST00000033182] [ENSMUST00000033184] [ENSMUST00000098148] [ENSMUST00000149695] [ENSMUST00000163389] [ENSMUST00000136687] [ENSMUST00000141116]

AlphaFold

O55222

Predicted Effect

probably null
Transcript: ENSMUST00000033179

SMART Domains

Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888

Domain	Start	End	E-Value	Type
low complexity region	186	202	N/A	INTRINSIC
Pfam:Methyltransf_8	238	457	2.4e-107	PFAM
Pfam:Methyltransf_11	314	391	2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033182
AA Change: S186P

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890
AA Change: S186P

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART
Pfam:Pkinase	193	445	1.5e-25	PFAM
Pfam:Pkinase_Tyr	193	446	7.2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033184

SMART Domains

Protein: ENSMUSP00000033184
Gene: ENSMUSG00000030894

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pro-kuma_activ	32	176	4.53e-50	SMART
low complexity region	177	189	N/A	INTRINSIC
Pfam:Peptidase_S8	251	492	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000054556

Predicted Effect

probably null
Transcript: ENSMUST00000098148

SMART Domains

Protein: ENSMUSP00000095752
Gene: ENSMUSG00000030888

Domain	Start	End	E-Value	Type
low complexity region	232	248	N/A	INTRINSIC
Pfam:Methyltransf_8	284	503	7.5e-107	PFAM
Pfam:Methyltransf_11	348	437	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127298

Predicted Effect

probably benign
Transcript: ENSMUST00000130565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145123

Predicted Effect

probably benign
Transcript: ENSMUST00000149695

Predicted Effect

probably benign
Transcript: ENSMUST00000153557

Predicted Effect

probably benign
Transcript: ENSMUST00000163389
AA Change: S186P

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890
AA Change: S186P

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART
Pfam:Pkinase_Tyr	193	446	4e-39	PFAM
Pfam:Pkinase	195	445	3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136687
AA Change: S186P

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890
AA Change: S186P

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131683

Predicted Effect

probably benign
Transcript: ENSMUST00000141116

SMART Domains

Protein: ENSMUSP00000118105
Gene: ENSMUSG00000043866

Domain	Start	End	E-Value	Type
low complexity region	17	39	N/A	INTRINSIC
low complexity region	45	91	N/A	INTRINSIC
Pfam:TFIID_30kDa	128	177	6.1e-30	PFAM
low complexity region	181	192	N/A	INTRINSIC

Meta Mutation Damage Score

0.0944

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Nullizygous embryos do not polarize the epiblast and die after implantation. Mice with mutations in the ATP-binding site show aphagia, hunched posture, and neonatal death due to renal aplasia. Mice with mutations in the paxillin-binding site show vasculogenesis and growth defects, and die at ~E12.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Ank1	A	G	8: 23,594,806 (GRCm39)	N605D	probably damaging	Het
Apob	A	G	12: 8,053,277 (GRCm39)	M1240V	probably benign	Het
Atf1	T	A	15: 100,152,265 (GRCm39)	I86N	probably damaging	Het
Best1	T	A	19: 9,966,483 (GRCm39)		probably null	Het
Bet1l	C	A	7: 140,434,694 (GRCm39)	R51L	probably benign	Het
Bpifa5	A	G	2: 154,005,598 (GRCm39)	Y60C	probably damaging	Het
Ccdc141	G	T	2: 76,938,781 (GRCm39)	Q275K	possibly damaging	Het
Cep295	T	A	9: 15,258,280 (GRCm39)	H241L	probably damaging	Het
Commd7	A	G	2: 153,471,144 (GRCm39)	V36A	possibly damaging	Het
Cyld	G	A	8: 89,468,032 (GRCm39)	S555N	probably damaging	Het
Cyp2j13	A	T	4: 95,959,919 (GRCm39)	I79N	probably damaging	Het
Dact2	A	G	17: 14,416,515 (GRCm39)	S562P	probably damaging	Het
Dnajc13	T	A	9: 104,053,865 (GRCm39)	I1664F	possibly damaging	Het
Ehmt1	A	G	2: 24,753,926 (GRCm39)	V277A	probably damaging	Het
Fbn1	A	T	2: 125,221,054 (GRCm39)		probably null	Het
Galnt6	G	A	15: 100,592,527 (GRCm39)	T560M	possibly damaging	Het
Glra1	G	T	11: 55,427,333 (GRCm39)		probably null	Het
Gm10762	C	T	2: 128,809,077 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,586 (GRCm39)	R1459H	probably damaging	Het
Ift140	A	G	17: 25,308,514 (GRCm39)	K1048E	probably damaging	Het
Lgi4	C	T	7: 30,770,208 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,374,105 (GRCm39)	T59A	possibly damaging	Het
Lzic	G	T	4: 149,570,457 (GRCm39)		probably null	Het
Mef2d	A	G	3: 88,069,088 (GRCm39)	T286A	probably benign	Het
Mycbp2	C	A	14: 103,361,839 (GRCm39)	C4447F	probably damaging	Het
Ncoa2	A	G	1: 13,294,930 (GRCm39)		probably benign	Het
Nolc1	T	C	19: 46,071,622 (GRCm39)		probably benign	Het
Npl	T	C	1: 153,379,271 (GRCm39)	T271A	probably benign	Het
Nudt1	A	G	5: 140,320,295 (GRCm39)	R25G	probably damaging	Het
Nudt19	T	C	7: 35,251,061 (GRCm39)	E226G	possibly damaging	Het
Oc90	T	C	15: 65,748,295 (GRCm39)	D405G	probably benign	Het
Or10q1b	T	A	19: 13,682,324 (GRCm39)	C44*	probably null	Het
Or1e1c	A	G	11: 73,266,474 (GRCm39)	M300V	probably benign	Het
Or5as1	A	T	2: 86,980,699 (GRCm39)	F102Y	probably benign	Het
Or9k2b	A	T	10: 130,016,266 (GRCm39)	L161H	probably damaging	Het
Pcdhb1	T	C	18: 37,398,880 (GRCm39)	I277T	possibly damaging	Het
Pcdhb9	C	A	18: 37,535,851 (GRCm39)	A615E	probably damaging	Het
Phrf1	C	G	7: 140,839,974 (GRCm39)	D1056E	probably benign	Het
Phyhip	C	A	14: 70,704,450 (GRCm39)	A223E	probably damaging	Het
Polr2h	T	A	16: 20,536,682 (GRCm39)	I4N	probably damaging	Het
Ppp1r12c	C	A	7: 4,500,403 (GRCm39)		probably benign	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Psg17	T	A	7: 18,554,140 (GRCm39)	T37S	possibly damaging	Het
Ptprz1	T	C	6: 23,001,417 (GRCm39)	V1169A	probably benign	Het
Rabgap1l	T	C	1: 160,134,792 (GRCm39)		probably benign	Het
Rapgef3	C	T	15: 97,655,223 (GRCm39)		probably benign	Het
Rbp3	C	A	14: 33,676,230 (GRCm39)	H59Q	probably benign	Het
Robo3	T	A	9: 37,341,112 (GRCm39)		probably null	Het
Slco4c1	C	T	1: 96,746,707 (GRCm39)	E712K	probably benign	Het
Ssh3	T	C	19: 4,316,428 (GRCm39)	T168A	probably benign	Het
Stoml2	G	T	4: 43,028,989 (GRCm39)	N248K	probably damaging	Het
Tmigd1	A	G	11: 76,806,911 (GRCm39)		probably benign	Het
Tnc	T	A	4: 63,931,451 (GRCm39)	D753V	probably damaging	Het
Tnik	A	T	3: 28,722,202 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,180 (GRCm39)	S22G	possibly damaging	Het
Trmt2a	C	T	16: 18,067,326 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,547,718 (GRCm39)	T32151A	probably damaging	Het
Utp25	A	T	1: 192,800,701 (GRCm39)	F373Y	probably damaging	Het
Vmn1r67	T	C	7: 10,180,949 (GRCm39)	I10T	probably benign	Het
Vmn2r116	T	C	17: 23,606,054 (GRCm39)	F322S	probably damaging	Het
Wdr19	A	G	5: 65,360,300 (GRCm39)	D35G	probably benign	Het
Zfp365	A	T	10: 67,724,870 (GRCm39)	H339Q	probably damaging	Het
Zfp677	A	T	17: 21,617,648 (GRCm39)	H235L	probably damaging	Het
Zpbp2	G	A	11: 98,442,097 (GRCm39)		probably benign	Het

Other mutations in Ilk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02000:Ilk	APN	7	105,390,376 (GRCm39)	missense	probably benign	0.45
IGL02326:Ilk	APN	7	105,390,840 (GRCm39)	missense	probably damaging	1.00
IGL02969:Ilk	APN	7	105,389,547 (GRCm39)	missense	possibly damaging	0.71
IGL03115:Ilk	APN	7	105,389,542 (GRCm39)	missense	probably damaging	0.99
R3408:Ilk	UTSW	7	105,390,181 (GRCm39)	missense	probably benign
R3792:Ilk	UTSW	7	105,391,294 (GRCm39)	nonsense	probably null
R4879:Ilk	UTSW	7	105,391,011 (GRCm39)	missense	probably benign	0.00
R5011:Ilk	UTSW	7	105,391,456 (GRCm39)	missense	probably damaging	1.00
R5013:Ilk	UTSW	7	105,391,456 (GRCm39)	missense	probably damaging	1.00
R5147:Ilk	UTSW	7	105,391,774 (GRCm39)	missense	possibly damaging	0.87
R5689:Ilk	UTSW	7	105,390,857 (GRCm39)	missense	probably benign
R9430:Ilk	UTSW	7	105,390,072 (GRCm39)	missense	probably benign
R9506:Ilk	UTSW	7	105,390,020 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- TCTCAACCGTATTCCATACAAGGAC -3'
(R):5'- CGGCCTTTCCAAAGCTGAAG -3'

Sequencing Primer
(F):5'- TTCCATACAAGGACACATTCTGG -3'
(R):5'- GGAAGCATTATCTCAGGCTGTAC -3'

Posted On

2016-12-20