Incidental Mutation 'R3792:Ilk'
ID 272590
Institutional Source Beutler Lab
Gene Symbol Ilk
Ensembl Gene ENSMUSG00000030890
Gene Name integrin linked kinase
Synonyms ESTM24
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3792 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 105385799-105392132 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 105391294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 73 (W73*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033182] [ENSMUST00000033184] [ENSMUST00000098148] [ENSMUST00000149695] [ENSMUST00000141116] [ENSMUST00000136687] [ENSMUST00000163389]
AlphaFold O55222
Predicted Effect probably damaging
Transcript: ENSMUST00000033182
AA Change: A357T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890
AA Change: A357T

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000138150
AA Change: W73*
Predicted Effect probably benign
Transcript: ENSMUST00000149695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151108
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 noncoding transcript
Transcript: ENSMUST00000148971
Predicted Effect probably benign
Transcript: ENSMUST00000153557
Predicted Effect probably benign
Transcript: ENSMUST00000141116
SMART Domains Protein: ENSMUSP00000118105
Gene: ENSMUSG00000043866

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000136687
SMART Domains Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890

DomainStartEndE-ValueType
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: ENSMUST00000163389
AA Change: A357T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890
AA Change: A357T

DomainStartEndE-ValueType
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: ENSMUST00000210018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210840
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A G X: 80,464,423 (GRCm39) V428A probably benign Het
Aanat T C 11: 116,487,057 (GRCm39) L88P probably damaging Het
Arhgap5 A T 12: 52,566,671 (GRCm39) N1214I probably benign Het
BC034090 A T 1: 155,117,543 (GRCm39) S192T probably damaging Het
Bco1 G A 8: 117,857,415 (GRCm39) V461I possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cripto C T 9: 110,772,258 (GRCm39) R46Q probably benign Het
Cubn G A 2: 13,432,725 (GRCm39) R1199C probably damaging Het
Dcaf12l1 T C X: 43,877,313 (GRCm39) N495S possibly damaging Het
Dop1b C A 16: 93,568,734 (GRCm39) Q1599K possibly damaging Het
Dyrk1a C A 16: 94,485,933 (GRCm39) L427I probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
F8 A T X: 74,328,971 (GRCm39) probably null Het
Fam135a T C 1: 24,067,392 (GRCm39) Y259C probably benign Het
Fbxo38 T C 18: 62,666,533 (GRCm39) probably null Het
Fbxo43 T C 15: 36,163,005 (GRCm39) I67M probably benign Het
Gcfc2 G T 6: 81,907,748 (GRCm39) C154F probably benign Het
Hipk2 C T 6: 38,675,491 (GRCm39) R1029H probably damaging Het
Ism1 T C 2: 139,582,173 (GRCm39) S162P probably damaging Het
Itpkb T A 1: 180,160,738 (GRCm39) L288Q possibly damaging Het
Itpr2 C A 6: 146,316,852 (GRCm39) K306N probably damaging Het
Kdm2a C T 19: 4,374,540 (GRCm39) E864K possibly damaging Het
Kdm4b G A 17: 56,662,944 (GRCm39) V172M probably damaging Het
Kyat3 A T 3: 142,443,605 (GRCm39) K406M probably null Het
Lipe T A 7: 25,097,045 (GRCm39) K299N possibly damaging Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Mptx2 T A 1: 173,102,240 (GRCm39) I150F probably damaging Het
Mroh2b G T 15: 4,953,102 (GRCm39) W612L probably damaging Het
Mucl2 T C 15: 103,928,692 (GRCm39) T27A possibly damaging Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Oprm1 T C 10: 6,789,544 (GRCm39) S390P probably benign Het
Or2m12 A G 16: 19,104,696 (GRCm39) S266P possibly damaging Het
Or51v8 A T 7: 103,319,353 (GRCm39) I295N probably damaging Het
Pcdhb14 T C 18: 37,582,715 (GRCm39) L607P probably damaging Het
Rap1gds1 A T 3: 138,671,721 (GRCm39) I133N probably damaging Het
Rasl10a T C 11: 5,009,461 (GRCm39) L83S probably damaging Het
Satb2 C T 1: 56,884,779 (GRCm39) V382M probably damaging Het
Sh3gl1 T C 17: 56,325,949 (GRCm39) K160R probably damaging Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spef2 A G 15: 9,704,622 (GRCm39) I454T probably damaging Het
Stag3 A G 5: 138,296,611 (GRCm39) K490E probably benign Het
Tcstv7b G T 13: 120,702,467 (GRCm39) V88F probably damaging Het
Tctn3 T C 19: 40,600,155 (GRCm39) K95R probably benign Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Ttc21a A T 9: 119,783,231 (GRCm39) E511V probably damaging Het
Ttn A G 2: 76,542,232 (GRCm39) F25258L probably damaging Het
Ttn A C 2: 76,639,290 (GRCm39) C13828G probably damaging Het
Vmn1r210 T A 13: 23,011,573 (GRCm39) M238L probably damaging Het
Vmn1r38 A G 6: 66,753,891 (GRCm39) I75T probably benign Het
Vmn2r84 T A 10: 130,221,669 (GRCm39) *850C probably null Het
Vwa7 T C 17: 35,244,135 (GRCm39) probably null Het
Zfp128 T A 7: 12,618,659 (GRCm39) D52E probably damaging Het
Zfp618 T C 4: 63,033,728 (GRCm39) probably benign Het
Zkscan2 T A 7: 123,084,225 (GRCm39) E633V possibly damaging Het
Other mutations in Ilk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TCAATAGCCGCAGTGTAATGG -3'
(R):5'- TGTCACCAGTTCCCACAGAAG -3'

Sequencing Primer
(F):5'- GTGAGACCACAGTTCACTTCTGG -3'
(R):5'- GTTCCCACAGAAGCACCG -3'
Posted On 2015-03-25