Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03115:Ilk'

419371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ilk

Ensembl Gene

ENSMUSG00000030890

Gene Name

integrin linked kinase

Synonyms

ESTM24

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

105385799-105392132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105389542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 83 (V83A)

Ref Sequence

ENSEMBL: ENSMUSP00000147503 (fasta)

Gene Model

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

AlphaFold

O55222

Predicted Effect

probably benign
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

possibly damaging
Transcript: ENSMUST00000033182
AA Change: V83A

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890
AA Change: V83A

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

unknown
Transcript: ENSMUST00000127298
AA Change: Y4H

Predicted Effect

probably benign
Transcript: ENSMUST00000130565

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163389
AA Change: V83A

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890
AA Change: V83A

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

possibly damaging
Transcript: ENSMUST00000136687
AA Change: V83A

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890
AA Change: V83A

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 damaging
Transcript: ENSMUST00000149695
AA Change: V83A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000153557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154626

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

Coding Region Coverage

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,808,802 (GRCm39)	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,422 (GRCm39)	C595S	probably damaging	Het
Arid2	G	A	15: 96,268,154 (GRCm39)	V756I	probably damaging	Het
Asah1	A	T	8: 41,813,336 (GRCm39)	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,822,973 (GRCm39)		probably null	Het
Cers2	A	G	3: 95,228,663 (GRCm39)	D162G	probably damaging	Het
Clasp1	G	T	1: 118,429,053 (GRCm39)	E106*	probably null	Het
Col12a1	T	C	9: 79,588,719 (GRCm39)	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,710,182 (GRCm39)	H196N	probably benign	Het
Eps8	T	C	6: 137,504,379 (GRCm39)	D118G	probably damaging	Het
Fmo9	A	G	1: 166,505,220 (GRCm39)	S7P	probably damaging	Het
Gamt	A	G	10: 80,094,272 (GRCm39)	L197P	probably damaging	Het
Grb7	A	G	11: 98,341,945 (GRCm39)	I82V	probably damaging	Het
Hectd2	T	C	19: 36,577,121 (GRCm39)		probably null	Het
Kif21a	T	A	15: 90,869,598 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	G	7: 139,501,425 (GRCm39)	I905V	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Morc3	T	C	16: 93,667,971 (GRCm39)	I710T	probably damaging	Het
Nefm	T	C	14: 68,357,728 (GRCm39)		probably benign	Het
Or10d5	T	C	9: 39,862,040 (GRCm39)	E9G	probably damaging	Het
Or2f2	A	G	6: 42,767,599 (GRCm39)	T209A	probably benign	Het
Or8g23	C	A	9: 38,971,259 (GRCm39)	R234S	probably damaging	Het
Pard6g	T	G	18: 80,123,068 (GRCm39)	L34W	probably damaging	Het
Patj	C	T	4: 98,332,040 (GRCm39)	S562L	probably damaging	Het
Pcsk4	A	G	10: 80,164,883 (GRCm39)	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,825,670 (GRCm39)	H300Q	probably damaging	Het
Pip5kl1	A	G	2: 32,470,033 (GRCm39)	D288G	probably damaging	Het
Plxnb2	T	A	15: 89,046,641 (GRCm39)		probably benign	Het
Poldip2	T	C	11: 78,411,970 (GRCm39)		probably benign	Het
Ralgapa2	T	C	2: 146,266,734 (GRCm39)	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,403,145 (GRCm39)		probably null	Het
Samd3	C	T	10: 26,147,606 (GRCm39)	T427M	probably damaging	Het
Skap1	A	G	11: 96,593,446 (GRCm39)	I98V	probably benign	Het
Skint11	T	C	4: 114,101,820 (GRCm39)	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,126,670 (GRCm39)	E133A	probably damaging	Het
Slc23a2	T	C	2: 131,933,185 (GRCm39)	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,426,403 (GRCm39)	E494V	possibly damaging	Het
Slco1a4	A	T	6: 141,765,329 (GRCm39)	D304E	probably benign	Het
Slco1a4	A	C	6: 141,763,585 (GRCm39)	M377R	probably damaging	Het
Srpk2	T	C	5: 23,729,616 (GRCm39)		probably null	Het
Supt3	T	G	17: 45,352,114 (GRCm39)	C271W	probably damaging	Het
Taar7d	C	A	10: 23,903,539 (GRCm39)	F140L	probably benign	Het
Tmbim7	T	C	5: 3,729,158 (GRCm39)	*225Q	probably null	Het
Tpst1	T	C	5: 130,130,752 (GRCm39)	I74T	probably damaging	Het
Utp3	T	C	5: 88,703,179 (GRCm39)	V236A	possibly damaging	Het
Vmn2r55	A	T	7: 12,404,558 (GRCm39)	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,327,460 (GRCm39)	I372N	possibly damaging	Het
Wtip	C	T	7: 33,824,958 (GRCm39)	A209T	probably damaging	Het
Zbbx	T	C	3: 74,985,867 (GRCm39)	D395G	probably benign	Het
Zfp273	A	T	13: 67,973,769 (GRCm39)	H299L	probably damaging	Het
Zfp459	G	A	13: 67,556,796 (GRCm39)	R96*	probably null	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
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
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

Posted On

2016-08-02