Incidental Mutation 'IGL00489:Alcam'
ID 3960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alcam
Ensembl Gene ENSMUSG00000022636
Gene Name activated leukocyte cell adhesion molecule
Synonyms MuSC, SC1, BEN, CD166, DM-GRASP
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # IGL00489
Quality Score
Status
Chromosome 16
Chromosomal Location 52069359-52273444 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 52115380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023312] [ENSMUST00000164728] [ENSMUST00000170035]
AlphaFold Q61490
Predicted Effect probably benign
Transcript: ENSMUST00000023312
SMART Domains Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636

DomainStartEndE-ValueType
IG 26 131 8.46e-2 SMART
Pfam:C2-set_2 137 231 5.1e-24 PFAM
IG 255 330 6.35e-6 SMART
IG 339 413 6.26e-5 SMART
Pfam:Ig_3 415 489 3.8e-6 PFAM
transmembrane domain 528 550 N/A INTRINSIC
low complexity region 569 582 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164728
SMART Domains Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636

DomainStartEndE-ValueType
IG 26 131 8.46e-2 SMART
Pfam:C2-set_2 137 231 1e-22 PFAM
Pfam:Ig_2 147 235 3.8e-2 PFAM
IG 255 330 6.35e-6 SMART
IG 339 413 6.26e-5 SMART
Pfam:Ig_3 415 496 1.9e-7 PFAM
Pfam:Ig_2 415 502 1.5e-6 PFAM
transmembrane domain 528 550 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167115
SMART Domains Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636

DomainStartEndE-ValueType
Pfam:C2-set_2 1 80 3.6e-21 PFAM
IG 101 175 6.26e-5 SMART
Pfam:Ig_3 177 251 1.7e-6 PFAM
transmembrane domain 290 312 N/A INTRINSIC
low complexity region 331 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170035
SMART Domains Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636

DomainStartEndE-ValueType
IG 26 131 8.46e-2 SMART
Pfam:C2-set_2 137 231 3.4e-23 PFAM
Pfam:Ig_2 147 235 1.3e-2 PFAM
IG 255 330 6.35e-6 SMART
IG 339 413 6.26e-5 SMART
Pfam:Ig_3 415 491 5.9e-8 PFAM
Pfam:Ig_2 415 502 4.9e-7 PFAM
transmembrane domain 515 537 N/A INTRINSIC
low complexity region 556 569 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 activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice display abnormal motor neuron and retinal ganglion cell morphology and retinal dysplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,316,147 (GRCm39) probably null Het
Aspm C A 1: 139,406,429 (GRCm39) A1772E probably damaging Het
Bag6 T A 17: 35,363,627 (GRCm39) D770E probably damaging Het
Baz2b A T 2: 59,788,019 (GRCm39) Y724* probably null Het
Ccdc178 A T 18: 21,977,968 (GRCm39) I833N probably benign Het
Ccdc28a C A 10: 18,106,261 (GRCm39) V22F possibly damaging Het
Cmya5 T C 13: 93,229,628 (GRCm39) N1820S probably benign Het
Fancm T G 12: 65,152,967 (GRCm39) I1141S probably benign Het
Fgfrl1 G A 5: 108,853,753 (GRCm39) G287S probably damaging Het
Galntl6 G A 8: 58,310,574 (GRCm39) P376S probably damaging Het
Gm21985 A G 2: 112,168,342 (GRCm39) probably benign Het
Hck A G 2: 152,992,939 (GRCm39) E482G possibly damaging Het
Kcna3 C T 3: 106,944,472 (GRCm39) S245L probably benign Het
Mcc T C 18: 44,582,283 (GRCm39) M798V possibly damaging Het
Nlrp9c T C 7: 26,084,013 (GRCm39) Y522C probably benign Het
Ofcc1 C A 13: 40,433,967 (GRCm39) S46I probably damaging Het
Pdgfra A G 5: 75,324,340 (GRCm39) D65G probably benign Het
Phf24 A C 4: 42,933,905 (GRCm39) T59P possibly damaging Het
Pik3cg A G 12: 32,255,148 (GRCm39) Y280H probably damaging Het
Pkd1l1 C A 11: 8,784,773 (GRCm39) probably null Het
Plcd4 C A 1: 74,591,274 (GRCm39) T223N probably damaging Het
Polr1b G A 2: 128,967,829 (GRCm39) G1074D probably damaging Het
Pou2f3 T C 9: 43,040,188 (GRCm39) T367A probably damaging Het
Prkdc T A 16: 15,617,790 (GRCm39) M3207K possibly damaging Het
Rb1cc1 T C 1: 6,319,730 (GRCm39) S1050P probably damaging Het
Sf3b3 G A 8: 111,540,383 (GRCm39) R1013* probably null Het
Svep1 T C 4: 58,068,988 (GRCm39) T2933A possibly damaging Het
Vwf A G 6: 125,635,835 (GRCm39) R289G unknown Het
Zfp263 T C 16: 3,563,710 (GRCm39) S155P probably benign Het
Other mutations in Alcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Alcam APN 16 52,073,543 (GRCm39) missense unknown
IGL01514:Alcam APN 16 52,094,653 (GRCm39) splice site probably benign
IGL01837:Alcam APN 16 52,073,531 (GRCm39) missense probably benign 0.10
IGL02143:Alcam APN 16 52,125,982 (GRCm39) missense probably damaging 0.99
IGL02231:Alcam APN 16 52,094,413 (GRCm39) splice site probably benign
IGL02375:Alcam APN 16 52,109,299 (GRCm39) missense probably benign 0.00
IGL02579:Alcam APN 16 52,091,135 (GRCm39) missense probably damaging 1.00
IGL02678:Alcam APN 16 52,094,401 (GRCm39) missense probably damaging 1.00
IGL02798:Alcam APN 16 52,126,002 (GRCm39) missense probably damaging 1.00
IGL02974:Alcam APN 16 52,116,079 (GRCm39) missense probably benign 0.05
IGL03335:Alcam APN 16 52,111,366 (GRCm39) nonsense probably null
PIT4402001:Alcam UTSW 16 52,115,497 (GRCm39) missense probably damaging 1.00
PIT4651001:Alcam UTSW 16 52,115,550 (GRCm39) missense probably benign
R0282:Alcam UTSW 16 52,116,104 (GRCm39) missense probably damaging 0.99
R0395:Alcam UTSW 16 52,130,227 (GRCm39) missense probably benign 0.42
R0760:Alcam UTSW 16 52,116,035 (GRCm39) missense probably benign 0.32
R0882:Alcam UTSW 16 52,073,573 (GRCm39) missense possibly damaging 0.47
R1433:Alcam UTSW 16 52,116,115 (GRCm39) critical splice acceptor site probably null
R1677:Alcam UTSW 16 52,091,136 (GRCm39) missense probably damaging 1.00
R1751:Alcam UTSW 16 52,091,077 (GRCm39) missense probably damaging 1.00
R1767:Alcam UTSW 16 52,091,077 (GRCm39) missense probably damaging 1.00
R2440:Alcam UTSW 16 52,125,976 (GRCm39) missense probably damaging 1.00
R2963:Alcam UTSW 16 52,115,404 (GRCm39) missense probably benign 0.00
R3410:Alcam UTSW 16 52,130,261 (GRCm39) missense probably null 0.03
R4327:Alcam UTSW 16 52,073,579 (GRCm39) missense possibly damaging 0.62
R4328:Alcam UTSW 16 52,073,579 (GRCm39) missense possibly damaging 0.62
R4888:Alcam UTSW 16 52,089,176 (GRCm39) missense probably benign 0.03
R5088:Alcam UTSW 16 52,109,290 (GRCm39) missense probably damaging 1.00
R5202:Alcam UTSW 16 52,094,599 (GRCm39) missense probably damaging 1.00
R5208:Alcam UTSW 16 52,115,411 (GRCm39) nonsense probably null
R5278:Alcam UTSW 16 52,094,638 (GRCm39) missense probably benign
R5799:Alcam UTSW 16 52,130,212 (GRCm39) missense probably benign 0.28
R5909:Alcam UTSW 16 52,111,356 (GRCm39) missense probably benign
R5960:Alcam UTSW 16 52,115,489 (GRCm39) missense probably benign 0.30
R6194:Alcam UTSW 16 52,088,761 (GRCm39) missense probably damaging 1.00
R6434:Alcam UTSW 16 52,109,190 (GRCm39) splice site probably null
R6831:Alcam UTSW 16 52,130,264 (GRCm39) missense probably benign 0.00
R6868:Alcam UTSW 16 52,088,748 (GRCm39) missense probably damaging 1.00
R6930:Alcam UTSW 16 52,126,018 (GRCm39) missense probably benign 0.14
R6957:Alcam UTSW 16 52,097,257 (GRCm39) missense probably damaging 1.00
R7109:Alcam UTSW 16 52,097,192 (GRCm39) missense probably damaging 0.98
R7473:Alcam UTSW 16 52,272,882 (GRCm39) unclassified probably benign
R7562:Alcam UTSW 16 52,089,186 (GRCm39) missense probably benign 0.00
R7568:Alcam UTSW 16 52,088,749 (GRCm39) missense probably damaging 1.00
R7631:Alcam UTSW 16 52,109,276 (GRCm39) splice site probably null
R8362:Alcam UTSW 16 52,115,387 (GRCm39) missense probably damaging 0.99
R8996:Alcam UTSW 16 52,126,114 (GRCm39) missense probably benign 0.30
Posted On 2012-04-20