Incidental Mutation 'IGL01652:Icam1'
ID102858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Icam1
Ensembl Gene ENSMUSG00000037405
Gene Nameintercellular adhesion molecule 1
SynonymsCD54, Icam-1, Ly-47, MALA-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01652
Quality Score
Status
Chromosome9
Chromosomal Location21015985-21028817 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21019176 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 109 (Y109H)
Ref Sequence ENSEMBL: ENSMUSP00000083587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086399]
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: 72,603,531 V60E probably damaging Het
Ank2 T C 3: 126,933,041 K868R probably benign Het
Ankrd13a A T 5: 114,791,336 D158V probably damaging Het
Arhgap12 G T 18: 6,061,853 N380K possibly damaging Het
Cpn1 A T 19: 43,986,094 F65L possibly damaging Het
Dlec1 T A 9: 119,143,907 H1496Q probably benign Het
Dock1 C T 7: 134,777,497 probably benign Het
Dok1 T C 6: 83,032,562 N143D probably damaging Het
Fcmr C T 1: 130,878,507 P363L probably benign Het
Galk2 A G 2: 125,896,765 T171A probably benign Het
Hrh3 G T 2: 180,101,103 P244Q possibly damaging Het
Nup93 T C 8: 94,296,559 V132A possibly damaging Het
Olfr1218 A T 2: 89,054,569 Y286N probably damaging Het
Pla2g4f T C 2: 120,302,235 I707V possibly damaging Het
Rpgrip1 G A 14: 52,145,492 probably benign Het
Sbf2 A T 7: 110,447,120 V290E probably damaging Het
Stard3 T G 11: 98,378,733 probably benign Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Trim35 T G 14: 66,308,801 V339G probably damaging Het
Vmn1r80 A G 7: 12,193,136 I58V probably benign Het
Other mutations in Icam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Icam1 APN 9 21016105 splice site probably null
R0458:Icam1 UTSW 9 21027861 splice site probably null
R0709:Icam1 UTSW 9 21019127 missense probably damaging 0.98
R1102:Icam1 UTSW 9 21027836 missense possibly damaging 0.83
R1473:Icam1 UTSW 9 21027876 missense probably damaging 1.00
R2210:Icam1 UTSW 9 21019033 missense probably damaging 1.00
R4362:Icam1 UTSW 9 21026312 missense possibly damaging 0.62
R5350:Icam1 UTSW 9 21027886 nonsense probably null
R6835:Icam1 UTSW 9 21027125 missense possibly damaging 0.71
R7296:Icam1 UTSW 9 21019015 missense probably benign 0.00
R7381:Icam1 UTSW 9 21027590 missense probably benign
Posted On2014-01-21