Incidental Mutation 'IGL02707:Icam4'
ID 304373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Icam4
Ensembl Gene ENSMUSG00000001014
Gene Name intercellular adhesion molecule 4, Landsteiner-Wiener blood group
Synonyms 1810015M19Rik, Cd242
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02707
Quality Score
Status
Chromosome 9
Chromosomal Location 20940728-20941892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20941770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 257 (Y257H)
Ref Sequence ENSEMBL: ENSMUSP00000001040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001040] [ENSMUST00000019616] [ENSMUST00000086399] [ENSMUST00000215077]
AlphaFold Q9ERM2
Predicted Effect possibly damaging
Transcript: ENSMUST00000001040
AA Change: Y257H

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001040
Gene: ENSMUSG00000001014
AA Change: Y257H

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ICAM_N 37 128 2.5e-17 PFAM
Blast:IG_like 133 224 1e-9 BLAST
transmembrane domain 232 254 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019616
SMART Domains Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
Pfam:ICAM_N 32 122 1.5e-17 PFAM
Pfam:Ig_3 121 202 5.6e-4 PFAM
low complexity region 284 292 N/A INTRINSIC
IG_like 329 405 1.45e1 SMART
IG 416 488 1.72e-2 SMART
IG 499 569 5.84e-5 SMART
IG_like 580 662 3.57e1 SMART
IG 673 742 3.49e-3 SMART
IGc2 758 819 1.97e-11 SMART
transmembrane domain 833 855 N/A INTRINSIC
low complexity region 884 902 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086399
SMART Domains Protein: ENSMUSP00000083587
Gene: ENSMUSG00000037405

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: ENSMUST00000122714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180870
Predicted Effect probably benign
Transcript: ENSMUST00000215077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216917
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 the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased erythroblastic island formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,928 (GRCm39) T149A probably benign Het
4932414N04Rik A C 2: 68,561,474 (GRCm39) Q267P possibly damaging Het
Actr5 T C 2: 158,478,617 (GRCm39) V489A probably benign Het
Adam26b T C 8: 43,972,895 (GRCm39) probably benign Het
Aff4 A G 11: 53,290,567 (GRCm39) N509S probably benign Het
Arhgap22 C T 14: 33,085,229 (GRCm39) probably benign Het
Arhgap9 C A 10: 127,165,476 (GRCm39) H628Q probably damaging Het
Asap1 A T 15: 64,001,123 (GRCm39) I486N probably damaging Het
Asb15 A T 6: 24,558,787 (GRCm39) probably benign Het
Avil A G 10: 126,842,431 (GRCm39) D70G probably damaging Het
Cct6b T C 11: 82,645,780 (GRCm39) probably benign Het
Cep63 A T 9: 102,464,180 (GRCm39) I717K probably damaging Het
Chd4 G T 6: 125,085,730 (GRCm39) A875S probably damaging Het
Col4a4 A T 1: 82,471,237 (GRCm39) M706K unknown Het
Cr1l T C 1: 194,806,019 (GRCm39) T155A probably benign Het
Ctnna3 A G 10: 63,339,844 (GRCm39) N10S probably benign Het
Cubn A G 2: 13,450,843 (GRCm39) V854A probably damaging Het
Dgkh T C 14: 78,823,091 (GRCm39) T845A possibly damaging Het
F10 G A 8: 13,098,252 (GRCm39) A152T probably damaging Het
Gabrg3 C A 7: 56,632,439 (GRCm39) E170* probably null Het
Heatr5a A G 12: 51,968,149 (GRCm39) V829A probably benign Het
Htt T A 5: 34,987,225 (GRCm39) probably null Het
Jph1 A G 1: 17,074,675 (GRCm39) S448P probably benign Het
Kansl1l G A 1: 66,812,604 (GRCm39) L125F probably damaging Het
Kifc1 A T 17: 34,100,467 (GRCm39) C46* probably null Het
Lce3b A G 3: 92,841,193 (GRCm39) D96G unknown Het
Mab21l1 A T 3: 55,690,505 (GRCm39) I31F possibly damaging Het
Mctp2 A G 7: 71,909,089 (GRCm39) Y75H possibly damaging Het
Mesp2 A G 7: 79,461,274 (GRCm39) I200V probably benign Het
Msr1 T C 8: 40,085,870 (GRCm39) probably benign Het
Mtfr2 C T 10: 20,224,084 (GRCm39) T6I probably benign Het
Myo5b T C 18: 74,828,438 (GRCm39) probably benign Het
Myoc T A 1: 162,467,029 (GRCm39) I66N probably benign Het
Or10d1b T C 9: 39,613,937 (GRCm39) I43V probably damaging Het
Or4a70 A T 2: 89,324,171 (GRCm39) Y162N probably damaging Het
Or51k1 A C 7: 103,661,609 (GRCm39) L100W probably damaging Het
Or52n20 T C 7: 104,320,136 (GRCm39) C76R probably damaging Het
Or52n2b A G 7: 104,565,859 (GRCm39) C215R probably damaging Het
Or7a39 T C 10: 78,715,759 (GRCm39) L251S probably damaging Het
Per2 T C 1: 91,378,450 (GRCm39) D33G possibly damaging Het
Pknox1 A G 17: 31,821,793 (GRCm39) I295V possibly damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rhot2 A G 17: 26,063,270 (GRCm39) S19P probably damaging Het
Rps6kb1 C A 11: 86,426,236 (GRCm39) probably null Het
Serpinb1b C T 13: 33,275,648 (GRCm39) T194I probably benign Het
Smarcad1 T A 6: 65,029,790 (GRCm39) probably benign Het
Stxbp4 A G 11: 90,428,759 (GRCm39) S449P probably benign Het
Thrb A C 14: 18,026,721 (GRCm38) I275L probably benign Het
Tjp1 T A 7: 64,979,431 (GRCm39) K365* probably null Het
Tjp1 T A 7: 64,979,430 (GRCm39) K365I possibly damaging Het
Tm4sf4 C A 3: 57,333,939 (GRCm39) C75* probably null Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Txndc16 T C 14: 45,399,730 (GRCm39) T408A probably benign Het
Ube2j1 T C 4: 33,038,206 (GRCm39) L38P possibly damaging Het
Urb2 T C 8: 124,757,425 (GRCm39) I1044T probably benign Het
Other mutations in Icam4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Icam4 APN 9 20,941,382 (GRCm39) missense possibly damaging 0.90
IGL01835:Icam4 APN 9 20,941,086 (GRCm39) missense probably damaging 1.00
R0360:Icam4 UTSW 9 20,941,117 (GRCm39) missense probably damaging 1.00
R0507:Icam4 UTSW 9 20,940,799 (GRCm39) missense possibly damaging 0.55
R5037:Icam4 UTSW 9 20,940,937 (GRCm39) nonsense probably null
R6084:Icam4 UTSW 9 20,940,835 (GRCm39) missense probably benign 0.01
R6315:Icam4 UTSW 9 20,941,248 (GRCm39) missense probably damaging 1.00
R6379:Icam4 UTSW 9 20,941,078 (GRCm39) missense probably damaging 1.00
R6387:Icam4 UTSW 9 20,941,505 (GRCm39) missense possibly damaging 0.57
R6931:Icam4 UTSW 9 20,941,747 (GRCm39) missense probably damaging 0.97
R7768:Icam4 UTSW 9 20,941,290 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16