Incidental Mutation 'IGL02969:Ilk'
ID 365743
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 # IGL02969
Quality Score
Status
Chromosome 7
Chromosomal Location 105385799-105392132 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105389547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 85 (K85E)
Ref Sequence ENSEMBL: ENSMUSP00000147503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033179] [ENSMUST00000033182] [ENSMUST00000033184] [ENSMUST00000098148] [ENSMUST00000136687] [ENSMUST00000163389] [ENSMUST00000149695] [ENSMUST00000141116]
AlphaFold O55222
Predicted Effect probably benign
Transcript: ENSMUST00000033179
SMART Domains Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888

DomainStartEndE-ValueType
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: K85E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890
AA Change: K85E

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 silent
Transcript: ENSMUST00000127298
Predicted Effect probably benign
Transcript: ENSMUST00000130565
Predicted Effect probably benign
Transcript: ENSMUST00000136687
AA Change: K85E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890
AA Change: K85E

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 benign
Transcript: ENSMUST00000163389
AA Change: K85E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890
AA Change: K85E

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 possibly damaging
Transcript: ENSMUST00000149695
AA Change: K85E

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131683
Predicted Effect probably benign
Transcript: ENSMUST00000153557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146999
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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,946,866 (GRCm39) probably benign Het
Acsbg3 A T 17: 57,190,751 (GRCm39) T440S probably damaging Het
Akap12 T A 10: 4,304,864 (GRCm39) V558E probably damaging Het
Atg4c T C 4: 99,146,624 (GRCm39) probably benign Het
Atg7 T A 6: 114,701,884 (GRCm39) N673K possibly damaging Het
Brpf3 A G 17: 29,040,279 (GRCm39) D900G probably benign Het
C2cd5 T C 6: 143,025,669 (GRCm39) Y176C probably damaging Het
Cep70 A T 9: 99,180,557 (GRCm39) I571F possibly damaging Het
Cir1 C T 2: 73,134,120 (GRCm39) G150R probably null Het
Cyp46a1 T C 12: 108,309,296 (GRCm39) V68A probably damaging Het
Dlgap2 A G 8: 14,881,579 (GRCm39) T883A possibly damaging Het
Dnah2 C A 11: 69,412,013 (GRCm39) K249N possibly damaging Het
Dnajc11 A G 4: 152,062,503 (GRCm39) K434R probably benign Het
Eri3 A G 4: 117,506,508 (GRCm39) Y279C probably damaging Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Insrr G T 3: 87,721,498 (GRCm39) G1135* probably null Het
Itgax T A 7: 127,748,295 (GRCm39) M1108K probably benign Het
Mpzl3 C T 9: 44,979,514 (GRCm39) T155I probably benign Het
Or4f57 A T 2: 111,790,912 (GRCm39) C169S probably damaging Het
Or6c212 A T 10: 129,559,065 (GRCm39) M116K probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2h A G 16: 20,537,807 (GRCm39) Y68C probably damaging Het
Pramel47 C T 5: 95,489,258 (GRCm39) P234S probably benign Het
Rhobtb3 A G 13: 76,091,550 (GRCm39) S2P probably damaging Het
Slc24a5 T C 2: 124,925,147 (GRCm39) S263P probably damaging Het
Spz1 T G 13: 92,711,851 (GRCm39) K208N possibly damaging Het
Tbpl2 C A 2: 23,981,105 (GRCm39) C231F probably damaging Het
Tdrd6 T C 17: 43,938,440 (GRCm39) I869M probably damaging Het
Tesk1 G A 4: 43,447,027 (GRCm39) E472K possibly damaging Het
Tesk1 C A 4: 43,447,026 (GRCm39) C471* probably null Het
Thoc2l C T 5: 104,667,209 (GRCm39) T577I probably benign Het
Tmem213 T A 6: 38,092,601 (GRCm39) V111E probably damaging Het
Tmem232 A T 17: 65,563,558 (GRCm39) Y612N possibly damaging Het
Ttn T C 2: 76,729,707 (GRCm39) probably benign Het
Vmn2r113 G A 17: 23,177,591 (GRCm39) V792I probably benign Het
Wdfy1 A G 1: 79,691,588 (GRCm39) V273A probably benign Het
Wwp1 A G 4: 19,623,200 (GRCm39) S762P probably 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
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
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 2015-12-18