Incidental Mutation 'IGL01652:Icam1'
ID 102858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Icam1
Ensembl Gene ENSMUSG00000037405
Gene Name intercellular adhesion molecule 1
Synonyms Icam-1, MALA-2, Ly-47, CD54
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL01652
Quality Score
Status
Chromosome 9
Chromosomal Location 20927281-20940113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20930472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 109 (Y109H)
Ref Sequence ENSEMBL: ENSMUSP00000083587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086399]
AlphaFold P13597
Predicted Effect probably damaging
Transcript: ENSMUST00000086399
AA Change: Y109H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083587
Gene: ENSMUSG00000037405
AA Change: Y109H

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
IG_like 33 109 5.91e1 SMART
IG_like 119 208 1.15e2 SMART
IG 319 396 1.49e-2 SMART
IG 407 479 3.91e-6 SMART
transmembrane domain 486 508 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215003
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an integral membrane protein that binds leukocyte adhesion protein LFA-1. It participates in the innate immune response. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutation of this gene results in impaired inflammatory and immune responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk A T 17: 72,910,526 (GRCm39) V60E probably damaging Het
Ank2 T C 3: 126,726,690 (GRCm39) K868R probably benign Het
Ankrd13a A T 5: 114,929,397 (GRCm39) D158V probably damaging Het
Arhgap12 G T 18: 6,061,853 (GRCm39) N380K possibly damaging Het
Cpn1 A T 19: 43,974,533 (GRCm39) F65L possibly damaging Het
Dlec1 T A 9: 118,972,975 (GRCm39) H1496Q probably benign Het
Dock1 C T 7: 134,379,226 (GRCm39) probably benign Het
Dok1 T C 6: 83,009,543 (GRCm39) N143D probably damaging Het
Fcmr C T 1: 130,806,244 (GRCm39) P363L probably benign Het
Galk2 A G 2: 125,738,685 (GRCm39) T171A probably benign Het
Hrh3 G T 2: 179,742,896 (GRCm39) P244Q possibly damaging Het
Nup93 T C 8: 95,023,187 (GRCm39) V132A possibly damaging Het
Or4c113 A T 2: 88,884,913 (GRCm39) Y286N probably damaging Het
Pla2g4f T C 2: 120,132,716 (GRCm39) I707V possibly damaging Het
Rpgrip1 G A 14: 52,382,949 (GRCm39) probably benign Het
Sbf2 A T 7: 110,046,327 (GRCm39) V290E probably damaging Het
Stard3 T G 11: 98,269,559 (GRCm39) probably benign Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Trim35 T G 14: 66,546,250 (GRCm39) V339G probably damaging Het
Vmn1r80 A G 7: 11,927,063 (GRCm39) I58V probably benign Het
Other mutations in Icam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Icam1 APN 9 20,927,401 (GRCm39) splice site probably null
R0458:Icam1 UTSW 9 20,939,157 (GRCm39) splice site probably null
R0709:Icam1 UTSW 9 20,930,423 (GRCm39) missense probably damaging 0.98
R1102:Icam1 UTSW 9 20,939,132 (GRCm39) missense possibly damaging 0.83
R1473:Icam1 UTSW 9 20,939,172 (GRCm39) missense probably damaging 1.00
R2210:Icam1 UTSW 9 20,930,329 (GRCm39) missense probably damaging 1.00
R4362:Icam1 UTSW 9 20,937,608 (GRCm39) missense possibly damaging 0.62
R5350:Icam1 UTSW 9 20,939,182 (GRCm39) nonsense probably null
R6835:Icam1 UTSW 9 20,938,421 (GRCm39) missense possibly damaging 0.71
R7296:Icam1 UTSW 9 20,930,311 (GRCm39) missense probably benign 0.00
R7381:Icam1 UTSW 9 20,938,886 (GRCm39) missense probably benign
R8815:Icam1 UTSW 9 20,937,862 (GRCm39) missense probably benign 0.44
R9648:Icam1 UTSW 9 20,937,697 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21