Incidental Mutation 'IGL02143:Alcam'
ID |
281654 |
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 # |
IGL02143
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 52125982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 112
(V112L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023312]
[ENSMUST00000164728]
[ENSMUST00000168071]
[ENSMUST00000170035]
|
AlphaFold |
Q61490 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023312
AA Change: V112L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000023312 Gene: ENSMUSG00000022636 AA Change: V112L
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 |
possibly damaging
Transcript: ENSMUST00000164728
AA Change: V112L
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127141 Gene: ENSMUSG00000022636 AA Change: V112L
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 damaging
Transcript: ENSMUST00000168071
AA Change: V112L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131001 Gene: ENSMUSG00000022636 AA Change: V112L
Domain | Start | End | E-Value | Type |
IG
|
26 |
131 |
8.46e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170035
AA Change: V112L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129714 Gene: ENSMUSG00000022636 AA Change: V112L
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd5 |
T |
C |
9: 122,194,278 (GRCm39) |
M1T |
probably null |
Het |
Ager |
G |
A |
17: 34,818,092 (GRCm39) |
G183E |
probably damaging |
Het |
Amot |
T |
A |
X: 144,270,024 (GRCm39) |
Q204H |
probably damaging |
Het |
Ankar |
C |
T |
1: 72,697,808 (GRCm39) |
|
probably null |
Het |
Armc9 |
A |
G |
1: 86,104,587 (GRCm39) |
M279V |
possibly damaging |
Het |
Bpifb1 |
C |
T |
2: 154,051,849 (GRCm39) |
T218I |
probably benign |
Het |
Cacna1f |
A |
C |
X: 7,480,234 (GRCm39) |
|
probably benign |
Het |
Cacna2d2 |
T |
C |
9: 107,395,474 (GRCm39) |
|
probably null |
Het |
Ccdc57 |
A |
T |
11: 120,752,069 (GRCm39) |
C837* |
probably null |
Het |
Ctbp2 |
G |
A |
7: 132,592,885 (GRCm39) |
A808V |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,268,889 (GRCm39) |
|
probably null |
Het |
Dis3 |
T |
C |
14: 99,328,754 (GRCm39) |
|
probably benign |
Het |
Disp2 |
T |
C |
2: 118,620,450 (GRCm39) |
F394S |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,005,246 (GRCm39) |
N2336S |
probably damaging |
Het |
Drap1 |
C |
A |
19: 5,473,871 (GRCm39) |
L66F |
probably damaging |
Het |
Eif5a2 |
C |
T |
3: 28,847,888 (GRCm39) |
R109C |
probably benign |
Het |
Enpp1 |
A |
T |
10: 24,553,872 (GRCm39) |
D105E |
probably damaging |
Het |
Evi5l |
G |
A |
8: 4,241,293 (GRCm39) |
M275I |
probably damaging |
Het |
Flt1 |
T |
C |
5: 147,515,246 (GRCm39) |
T1059A |
probably benign |
Het |
Fndc3c1 |
T |
C |
X: 105,516,340 (GRCm39) |
|
probably benign |
Het |
Git1 |
T |
C |
11: 77,396,813 (GRCm39) |
V645A |
possibly damaging |
Het |
Gm7735 |
T |
A |
16: 88,966,437 (GRCm39) |
C20* |
probably null |
Het |
Ighv1-42 |
G |
T |
12: 114,900,906 (GRCm39) |
P60T |
probably benign |
Het |
Jakmip2 |
A |
T |
18: 43,696,350 (GRCm39) |
L533Q |
probably damaging |
Het |
Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
Lpin2 |
T |
C |
17: 71,550,921 (GRCm39) |
S694P |
probably damaging |
Het |
Mab21l2 |
C |
T |
3: 86,454,562 (GRCm39) |
R146Q |
possibly damaging |
Het |
Mmp1b |
A |
T |
9: 7,386,400 (GRCm39) |
S174T |
probably benign |
Het |
Neb |
T |
C |
2: 52,181,211 (GRCm39) |
Y1132C |
probably damaging |
Het |
Nhsl1 |
A |
T |
10: 18,387,383 (GRCm39) |
H219L |
possibly damaging |
Het |
Nwd2 |
T |
A |
5: 63,948,996 (GRCm39) |
|
probably null |
Het |
Obp1a |
A |
C |
X: 77,134,449 (GRCm39) |
M18R |
possibly damaging |
Het |
Or13a19 |
A |
T |
7: 139,903,505 (GRCm39) |
K298* |
probably null |
Het |
Or2ag13 |
T |
C |
7: 106,473,180 (GRCm39) |
T91A |
probably benign |
Het |
Pabpc5 |
T |
A |
X: 118,837,688 (GRCm39) |
M1K |
probably null |
Het |
Paxip1 |
A |
G |
5: 27,980,596 (GRCm39) |
|
probably benign |
Het |
Perm1 |
A |
G |
4: 156,302,500 (GRCm39) |
E348G |
probably benign |
Het |
Pfkfb1 |
T |
C |
X: 149,405,138 (GRCm39) |
F170L |
probably damaging |
Het |
Pou3f3 |
A |
G |
1: 42,737,686 (GRCm39) |
M461V |
probably benign |
Het |
Ppfia2 |
G |
A |
10: 106,693,360 (GRCm39) |
D622N |
probably damaging |
Het |
Prtg |
T |
G |
9: 72,799,606 (GRCm39) |
S801R |
probably damaging |
Het |
Rars2 |
T |
A |
4: 34,623,404 (GRCm39) |
|
probably benign |
Het |
Rasal1 |
A |
G |
5: 120,790,917 (GRCm39) |
D35G |
probably damaging |
Het |
Repin1 |
T |
A |
6: 48,574,055 (GRCm39) |
L272Q |
probably damaging |
Het |
Spmip5 |
C |
A |
19: 58,777,684 (GRCm39) |
R34L |
possibly damaging |
Het |
Stk36 |
T |
C |
1: 74,655,728 (GRCm39) |
|
probably benign |
Het |
Tbxa2r |
A |
G |
10: 81,170,320 (GRCm39) |
T269A |
probably benign |
Het |
Tmem132c |
G |
A |
5: 127,640,466 (GRCm39) |
R879Q |
probably benign |
Het |
Vmn1r78 |
C |
A |
7: 11,886,407 (GRCm39) |
A6E |
probably benign |
Het |
Vps45 |
A |
T |
3: 95,941,133 (GRCm39) |
N369K |
probably benign |
Het |
Vps45 |
T |
C |
3: 95,926,958 (GRCm39) |
I530V |
probably benign |
Het |
Zkscan16 |
G |
A |
4: 58,956,911 (GRCm39) |
G398R |
probably damaging |
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 |
|
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 |
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 |
2015-04-16 |