Incidental Mutation 'IGL01514:Alcam'
ID |
89331 |
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: 0.259)
|
Stock # |
IGL01514
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 52094653 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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accs |
A |
G |
2: 93,669,587 (GRCm39) |
|
probably benign |
Het |
Actl7b |
T |
C |
4: 56,740,677 (GRCm39) |
Y227C |
probably damaging |
Het |
Adam26a |
A |
T |
8: 44,021,485 (GRCm39) |
H668Q |
probably benign |
Het |
Aldh3a2 |
C |
T |
11: 61,144,624 (GRCm39) |
|
probably benign |
Het |
Atp11b |
G |
T |
3: 35,891,130 (GRCm39) |
G801V |
probably damaging |
Het |
C3 |
G |
A |
17: 57,522,866 (GRCm39) |
T1006I |
probably benign |
Het |
Cacna2d4 |
T |
C |
6: 119,259,134 (GRCm39) |
|
probably benign |
Het |
Cldn34b3 |
A |
T |
X: 75,310,680 (GRCm39) |
I83F |
probably damaging |
Het |
Clec2g |
G |
A |
6: 128,925,736 (GRCm39) |
M48I |
probably benign |
Het |
Coch |
A |
G |
12: 51,650,136 (GRCm39) |
D375G |
probably damaging |
Het |
Erbb2 |
C |
T |
11: 98,323,745 (GRCm39) |
T653I |
possibly damaging |
Het |
Etv3 |
A |
G |
3: 87,443,025 (GRCm39) |
H203R |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 39,003,683 (GRCm39) |
R1801G |
possibly damaging |
Het |
Gars1 |
T |
A |
6: 55,042,505 (GRCm39) |
S413T |
probably benign |
Het |
Gnat1 |
G |
A |
9: 107,553,500 (GRCm39) |
R253C |
possibly damaging |
Het |
Hook3 |
A |
T |
8: 26,578,217 (GRCm39) |
L91I |
possibly damaging |
Het |
Lrp8 |
T |
C |
4: 107,712,881 (GRCm39) |
Y377H |
probably damaging |
Het |
Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
Malt1 |
A |
G |
18: 65,609,471 (GRCm39) |
D825G |
possibly damaging |
Het |
Nlrp9b |
T |
C |
7: 19,779,859 (GRCm39) |
|
probably null |
Het |
Or1x2 |
C |
T |
11: 50,918,416 (GRCm39) |
R196* |
probably null |
Het |
Or2v2 |
A |
T |
11: 49,004,403 (GRCm39) |
I50N |
probably damaging |
Het |
Orc1 |
A |
G |
4: 108,459,249 (GRCm39) |
R473G |
probably damaging |
Het |
Pard6g |
G |
A |
18: 80,160,661 (GRCm39) |
R258H |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,702,264 (GRCm39) |
D1224G |
possibly damaging |
Het |
Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
Pycr3 |
T |
C |
15: 75,788,853 (GRCm39) |
T240A |
probably damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,766,442 (GRCm39) |
G1284V |
probably damaging |
Het |
Rcl1 |
T |
C |
19: 29,120,698 (GRCm39) |
|
probably benign |
Het |
Sec24c |
C |
T |
14: 20,732,839 (GRCm39) |
T134I |
possibly damaging |
Het |
Sis |
A |
G |
3: 72,843,253 (GRCm39) |
|
probably benign |
Het |
Susd5 |
A |
C |
9: 113,897,947 (GRCm39) |
|
probably benign |
Het |
Tlk1 |
T |
C |
2: 70,582,610 (GRCm39) |
N173S |
probably benign |
Het |
Uroc1 |
T |
C |
6: 90,340,082 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Alcam |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00489:Alcam
|
APN |
16 |
52,115,380 (GRCm39) |
splice site |
probably benign |
|
IGL00737:Alcam
|
APN |
16 |
52,073,543 (GRCm39) |
missense |
unknown |
|
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 |
2013-12-03 |