Incidental Mutation 'IGL02000:Ilk'
ID 182996
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 # IGL02000
Quality Score
Status
Chromosome 7
Chromosomal Location 105385799-105392132 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105390376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 185 (H185R)
Ref Sequence ENSEMBL: ENSMUSP00000130341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033179] [ENSMUST00000033182] [ENSMUST00000033184] [ENSMUST00000098148] [ENSMUST00000136687] [ENSMUST00000149695] [ENSMUST00000141116] [ENSMUST00000163389]
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: H185R

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890
AA Change: H185R

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: ENSMUST00000136687
AA Change: H185R

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890
AA Change: H185R

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: ENSMUST00000130565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137902
Predicted Effect probably benign
Transcript: ENSMUST00000153557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146999
Predicted Effect probably benign
Transcript: ENSMUST00000149695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145123
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: ENSMUST00000163389
AA Change: H185R

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890
AA Change: H185R

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: ENSMUST00000210840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154626
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,358,578 (GRCm39) F450S probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Cd101 G A 3: 100,919,398 (GRCm39) P568L probably benign Het
Cdkl4 T C 17: 80,851,192 (GRCm39) E170G probably damaging Het
Chit1 A G 1: 134,074,413 (GRCm39) E240G probably benign Het
Duox2 T C 2: 122,121,190 (GRCm39) T741A probably benign Het
Eef2 T C 10: 81,015,845 (GRCm39) V427A probably benign Het
Ewsr1 T C 11: 5,038,077 (GRCm39) D105G probably damaging Het
Ftsj3 C T 11: 106,141,233 (GRCm39) R629Q probably benign Het
Gm10406 C T 14: 18,341,703 (GRCm39) G181E probably benign Het
Lamc1 A T 1: 153,116,179 (GRCm39) C1001S probably damaging Het
Mcidas T C 13: 113,133,974 (GRCm39) S153P probably benign Het
Mtcl1 T C 17: 66,661,185 (GRCm39) E931G probably benign Het
Myo10 C T 15: 25,808,152 (GRCm39) R1925C probably damaging Het
Notch3 A G 17: 32,341,716 (GRCm39) V2012A probably damaging Het
Or6c76 C A 10: 129,611,938 (GRCm39) H67N probably benign Het
Parp6 A G 9: 59,556,175 (GRCm39) M542V probably benign Het
Rab27a G A 9: 72,992,254 (GRCm39) G94D probably damaging Het
Ralgapb A G 2: 158,296,034 (GRCm39) probably benign Het
Rassf4 T C 6: 116,622,933 (GRCm39) E26G probably benign Het
Rnf166 C T 8: 123,193,961 (GRCm39) D221N probably damaging Het
Rptn G T 3: 93,303,735 (GRCm39) G356V probably benign Het
Rwdd2b T A 16: 87,233,828 (GRCm39) probably benign Het
Scfd1 T A 12: 51,460,900 (GRCm39) S337T probably benign Het
Sel1l3 T A 5: 53,302,835 (GRCm39) D678V probably damaging Het
Sidt1 A T 16: 44,106,732 (GRCm39) F233I probably damaging Het
Slc12a4 T C 8: 106,671,864 (GRCm39) D917G probably damaging Het
Slc22a2 A T 17: 12,803,270 (GRCm39) I35F possibly damaging Het
Smco1 A T 16: 32,092,751 (GRCm39) T141S possibly damaging Het
Svs6 T C 2: 164,159,352 (GRCm39) probably benign Het
Syne2 C T 12: 76,062,419 (GRCm39) A4247V probably damaging Het
Tacc2 T A 7: 130,330,898 (GRCm39) probably null Het
Tgm4 A T 9: 122,885,531 (GRCm39) I358F probably damaging Het
Thnsl2 A G 6: 71,111,203 (GRCm39) S222P probably damaging Het
Tmem25 G A 9: 44,709,568 (GRCm39) R78* probably null Het
Ube2l6 T C 2: 84,639,506 (GRCm39) probably benign Het
Usp10 T A 8: 120,675,480 (GRCm39) Y63N possibly damaging Het
Vit A G 17: 78,912,915 (GRCm39) I283V possibly damaging Het
Vmn1r214 G A 13: 23,219,270 (GRCm39) V255I possibly damaging Het
Xpo1 A G 11: 23,246,003 (GRCm39) R1038G probably damaging Het
Ybx1 T A 4: 119,139,509 (GRCm39) N50I probably damaging Het
Zhx1 T C 15: 57,917,683 (GRCm39) K188E probably damaging Het
Other mutations in Ilk
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-05-07