Mutagenetix > Incidental Mutation

Incidental Mutation 'R5013:Ilk'

390642

Institutional Source

Beutler Lab

Gene Symbol

Ilk

Ensembl Gene

ENSMUSG00000030890

Gene Name

integrin linked kinase

Synonyms

ESTM24

MMRRC Submission

042604-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105385799-105392132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105391456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 374 (D374G)

Ref Sequence

ENSEMBL: ENSMUSP00000130341 (fasta)

Gene Model

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

AlphaFold

O55222

Predicted Effect

probably damaging
Transcript: ENSMUST00000033182
AA Change: D374G

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

SMART Domains

Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890
AA Change: D374G

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 benign
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: ENSMUST00000131683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138150
AA Change: T91A

Predicted Effect

probably benign
Transcript: ENSMUST00000149695

Predicted Effect

probably damaging
Transcript: ENSMUST00000163389
AA Change: D374G

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

SMART Domains

Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890
AA Change: D374G

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

noncoding transcript
Transcript: ENSMUST00000148971

Predicted Effect

probably benign
Transcript: ENSMUST00000153557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152508

Predicted Effect

probably benign
Transcript: ENSMUST00000136687

SMART Domains

Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890

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

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

0.9746

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (86/86)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,926 (GRCm39)	L2117P	probably damaging	Het
Ago3	A	T	4: 126,262,391 (GRCm39)	S386R	probably benign	Het
Agxt	T	C	1: 93,069,779 (GRCm39)		probably benign	Het
Ahctf1	A	T	1: 179,611,675 (GRCm39)	I565N	possibly damaging	Het
Ank1	C	T	8: 23,572,300 (GRCm39)	T70I	probably damaging	Het
Anxa1	A	G	19: 20,360,287 (GRCm39)	V108A	probably benign	Het
Aqp3	A	G	4: 41,093,819 (GRCm39)	F225L	probably damaging	Het
Atp11b	T	G	3: 35,888,532 (GRCm39)	I934R	possibly damaging	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Bcr	A	G	10: 74,960,898 (GRCm39)	D443G	probably benign	Het
Cbfa2t3	G	T	8: 123,365,598 (GRCm39)	D211E	possibly damaging	Het
Ccdc146	A	T	5: 21,538,036 (GRCm39)	L96Q	probably damaging	Het
Cdh16	A	G	8: 105,343,660 (GRCm39)	I612T	probably damaging	Het
Clcn2	G	A	16: 20,525,965 (GRCm39)	P785S	probably damaging	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly damaging	Het
Dnah12	T	A	14: 26,431,326 (GRCm39)	D381E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajc2	G	A	5: 21,962,771 (GRCm39)	R521*	probably null	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Eif1ad19	T	A	12: 87,740,512 (GRCm39)	K16*	probably null	Het
Ercc4	G	A	16: 12,941,445 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,254,582 (GRCm39)	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,413,439 (GRCm39)	H219Q	possibly damaging	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fbxw17	C	T	13: 50,586,506 (GRCm39)	R403C	probably benign	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Gatd1	G	T	7: 140,988,861 (GRCm39)		probably benign	Het
Gm10330	A	T	12: 23,829,961 (GRCm39)	Y73*	probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsn	T	A	2: 35,188,933 (GRCm39)	Y440N	probably damaging	Het
Hdc	C	T	2: 126,446,220 (GRCm39)	E180K	probably benign	Het
Invs	G	A	4: 48,421,807 (GRCm39)	R813Q	probably damaging	Het
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably damaging	Het
Klk1b4	A	G	7: 43,860,492 (GRCm39)	N170S	probably benign	Het
Klk1b9	A	C	7: 43,445,419 (GRCm39)	D203A	probably damaging	Het
Lamtor3	A	T	3: 137,630,909 (GRCm39)	R27S	probably damaging	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Morc1	A	G	16: 48,322,699 (GRCm39)	D332G	probably benign	Het
Myo15a	T	C	11: 60,382,493 (GRCm39)	I1523T	probably damaging	Het
Nagpa	A	T	16: 5,013,743 (GRCm39)	M365K	probably benign	Het
Nckap5l	G	T	15: 99,324,457 (GRCm39)	P682Q	probably benign	Het
Nfix	A	G	8: 85,498,713 (GRCm39)	F87L	possibly damaging	Het
Nup155	C	A	15: 8,153,722 (GRCm39)	T421K	probably benign	Het
Or5ac25	A	T	16: 59,182,067 (GRCm39)	N171K	probably damaging	Het
Or5ae2	T	C	7: 84,505,646 (GRCm39)	V23A	probably damaging	Het
Or7c74	A	G	2: 37,160,937 (GRCm39)		noncoding transcript	Het
Or8k53	A	T	2: 86,177,647 (GRCm39)	F154L	probably benign	Het
Pate14	T	C	9: 36,549,120 (GRCm39)	N47D	probably benign	Het
Pds5a	A	C	5: 65,792,680 (GRCm39)	V751G	probably benign	Het
Podnl1	G	T	8: 84,852,965 (GRCm39)	C45F	probably damaging	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ptprk	T	A	10: 28,427,713 (GRCm39)	I764N	probably damaging	Het
Rbm33	A	T	5: 28,547,409 (GRCm39)	Q193L	probably benign	Het
Rnasel	C	A	1: 153,629,677 (GRCm39)	H64Q	probably damaging	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Scamp3	A	G	3: 89,088,216 (GRCm39)		probably benign	Het
Sema6b	C	T	17: 56,439,497 (GRCm39)		probably null	Het
Six4	A	C	12: 73,150,400 (GRCm39)	I715R	probably benign	Het
Slc28a2	T	C	2: 122,288,371 (GRCm39)	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,218,872 (GRCm39)		probably benign	Het
Spdya	A	T	17: 71,869,499 (GRCm39)	Y98F	possibly damaging	Het
Tert	T	C	13: 73,794,428 (GRCm39)		probably null	Het
Tex22	G	A	12: 113,052,104 (GRCm39)	C54Y	probably damaging	Het
Tmem198b	C	T	10: 128,637,942 (GRCm39)	R207H	probably damaging	Het
Trbv13-1	C	T	6: 41,093,189 (GRCm39)	Q42*	probably null	Het
Trcg1	T	C	9: 57,149,562 (GRCm39)	L378P	probably damaging	Het
Trpv5	T	G	6: 41,636,647 (GRCm39)	D433A	probably damaging	Het
Ube3b	A	G	5: 114,545,702 (GRCm39)	N654D	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vwa7	A	T	17: 35,241,709 (GRCm39)	Y448F	probably damaging	Het
Zan	A	C	5: 137,382,099 (GRCm39)	D5149E	unknown	Het
Zfp106	A	G	2: 120,341,015 (GRCm39)	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438 (GRCm39)	G514S	probably damaging	Het
Zhx1	G	A	15: 57,917,538 (GRCm39)	T236I	possibly damaging	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
R5147:Ilk	UTSW	7	105,391,774 (GRCm39)	missense	possibly damaging	0.87
R5689:Ilk	UTSW	7	105,390,857 (GRCm39)	missense	probably benign
R5837:Ilk	UTSW	7	105,390,378 (GRCm39)	splice site	probably null
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'- GATGTTAAGTTTTCTTTCCAGTGCC -3'
(R):5'- AGCCTTTGATCCTTGAATGGTAAG -3'

Sequencing Primer
(F):5'- ATGTATGCGCCTGCCTG -3'
(R):5'- GTAGTTCTGTGCTCACCT -3'

Posted On

2016-06-06