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)
|
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
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 |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |