Incidental Mutation 'IGL02231:Alcam'
ID 285723
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 # IGL02231
Quality Score
Status
Chromosome 16
Chromosomal Location 52069359-52273444 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 52094413 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 noncoding transcript
Transcript: ENSMUST00000163788
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 noncoding transcript
Transcript: ENSMUST00000164888
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox15 A C 11: 70,240,382 (GRCm39) D266E probably benign Het
Atcay A T 10: 81,046,382 (GRCm39) V314E probably damaging Het
Atp8b1 C T 18: 64,683,455 (GRCm39) G758R possibly damaging Het
Bltp2 G A 11: 78,170,722 (GRCm39) G1647D probably benign Het
Cacna2d4 T A 6: 119,254,869 (GRCm39) probably benign Het
Celsr3 T C 9: 108,719,709 (GRCm39) V2429A probably damaging Het
Clspn T G 4: 126,453,021 (GRCm39) D11E probably damaging Het
Cnot3 A G 7: 3,661,209 (GRCm39) T573A probably benign Het
Cyp2d34 A T 15: 82,502,807 (GRCm39) S140T probably benign Het
Edem1 A G 6: 108,805,849 (GRCm39) D50G probably benign Het
Emilin3 G A 2: 160,750,435 (GRCm39) T438I probably damaging Het
Etfdh C T 3: 79,525,700 (GRCm39) V173I probably damaging Het
Fat2 T C 11: 55,171,918 (GRCm39) T2932A probably damaging Het
Fcrl1 G A 3: 87,292,469 (GRCm39) E154K possibly damaging Het
Fcrl1 A T 3: 87,292,470 (GRCm39) E154V probably damaging Het
G3bp1 T A 11: 55,386,273 (GRCm39) L244* probably null Het
Itgae A T 11: 72,981,448 (GRCm39) K2M possibly damaging Het
Kcnq2 T C 2: 180,723,508 (GRCm39) I654V probably benign Het
Ksr2 C T 5: 117,638,841 (GRCm39) R82C probably damaging Het
Lrig3 A T 10: 125,833,041 (GRCm39) D305V probably damaging Het
Me1 T C 9: 86,493,908 (GRCm39) K322E possibly damaging Het
Med12l T A 3: 59,153,303 (GRCm39) D1109E probably damaging Het
Mest A G 6: 30,740,772 (GRCm39) K73E possibly damaging Het
Nup155 T G 15: 8,173,548 (GRCm39) L881R probably damaging Het
Ocln A T 13: 100,677,622 (GRCm39) S2T probably damaging Het
Oosp3 T C 19: 11,676,803 (GRCm39) L54S probably damaging Het
Pkp3 G A 7: 140,664,151 (GRCm39) E443K probably damaging Het
Plk2 T A 13: 110,536,603 (GRCm39) C632S probably benign Het
Ptk6 C T 2: 180,838,794 (GRCm39) V320I probably damaging Het
Ptprt A T 2: 162,079,980 (GRCm39) I273N probably damaging Het
Ptprt A G 2: 162,119,966 (GRCm39) probably null Het
Rab3gap2 T C 1: 184,999,095 (GRCm39) probably benign Het
Rabgef1 G A 5: 130,240,816 (GRCm39) A312T probably damaging Het
Rabl6 T A 2: 25,488,196 (GRCm39) K109N probably benign Het
Rbp7 C T 4: 149,539,334 (GRCm39) probably null Het
Reg3a C T 6: 78,359,224 (GRCm39) H75Y possibly damaging Het
Rnf123 G T 9: 107,943,598 (GRCm39) P546T probably benign Het
Rnmt C A 18: 68,447,152 (GRCm39) C345* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slc14a2 C T 18: 78,252,236 (GRCm39) S25N possibly damaging Het
Spata16 G T 3: 26,967,413 (GRCm39) G388W probably damaging Het
Speg C T 1: 75,400,031 (GRCm39) R2493W probably damaging Het
Thada T A 17: 84,736,125 (GRCm39) D970V probably damaging Het
Tmem184c A G 8: 78,331,441 (GRCm39) Y103H probably damaging Het
Ttn A T 2: 76,628,440 (GRCm39) D12827E probably damaging Het
Utp20 A G 10: 88,627,030 (GRCm39) L976S probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp936 T A 7: 42,836,909 (GRCm39) probably null Het
Other mutations in Alcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Alcam APN 16 52,115,380 (GRCm39) splice site probably benign
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
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 2015-04-16