Incidental Mutation 'IGL01837:Alcam'
| ID |
154986 |
| 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 # |
IGL01837
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52073531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 339
(N339I)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023312]
[ENSMUST00000170035]
|
| AlphaFold |
Q61490 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023312
AA Change: N578I
|
| SMART Domains |
Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: N578I
| 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 |
noncoding transcript
Transcript: ENSMUST00000163788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164888
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167115
AA Change: N339I
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636
AA Change: N339I
| 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 |
unknown
Transcript: ENSMUST00000170035
AA Change: N565I
|
| SMART Domains |
Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: N565I
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,627,671 (GRCm39) |
F1372L |
probably damaging |
Het |
| Ankrd35 |
A |
C |
3: 96,587,982 (GRCm39) |
D141A |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,150,492 (GRCm39) |
I1820V |
probably benign |
Het |
| Ccp110 |
T |
A |
7: 118,324,684 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,946,419 (GRCm39) |
D954E |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,313,363 (GRCm39) |
I1347F |
possibly damaging |
Het |
| Ddx10 |
A |
G |
9: 53,140,498 (GRCm39) |
I301T |
probably benign |
Het |
| Defb23 |
T |
A |
2: 152,301,294 (GRCm39) |
M93L |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,970,565 (GRCm39) |
|
probably null |
Het |
| Dok3 |
T |
C |
13: 55,671,383 (GRCm39) |
E396G |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,727,055 (GRCm39) |
M1318L |
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,343,167 (GRCm39) |
|
probably benign |
Het |
| Gm11992 |
A |
T |
11: 9,011,266 (GRCm39) |
R236W |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,734,452 (GRCm39) |
I1513V |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,951,759 (GRCm39) |
E25G |
possibly damaging |
Het |
| Ighg2b |
C |
T |
12: 113,270,065 (GRCm39) |
E318K |
unknown |
Het |
| Itga4 |
T |
C |
2: 79,145,349 (GRCm39) |
S722P |
probably damaging |
Het |
| Kirrel3 |
G |
A |
9: 34,946,224 (GRCm39) |
R617H |
probably damaging |
Het |
| Mboat1 |
A |
T |
13: 30,425,166 (GRCm39) |
H409L |
possibly damaging |
Het |
| Naa15 |
A |
T |
3: 51,351,369 (GRCm39) |
K180* |
probably null |
Het |
| Nccrp1 |
A |
G |
7: 28,246,191 (GRCm39) |
S124P |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,573,338 (GRCm39) |
I92T |
probably damaging |
Het |
| Or13a28 |
G |
A |
7: 140,218,124 (GRCm39) |
C170Y |
probably damaging |
Het |
| Or6d14 |
C |
A |
6: 116,533,807 (GRCm39) |
Y140* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,356,798 (GRCm39) |
D741G |
possibly damaging |
Het |
| Plcb2 |
C |
T |
2: 118,542,407 (GRCm39) |
|
probably null |
Het |
| Pramel19 |
A |
G |
4: 101,798,650 (GRCm39) |
E207G |
probably damaging |
Het |
| Prm2 |
G |
A |
16: 10,609,775 (GRCm39) |
|
probably null |
Het |
| R3hdm1 |
C |
T |
1: 128,114,497 (GRCm39) |
Q184* |
probably null |
Het |
| Rgl1 |
A |
T |
1: 152,424,901 (GRCm39) |
N359K |
probably damaging |
Het |
| Rnf44 |
A |
G |
13: 54,829,966 (GRCm39) |
Y366H |
probably damaging |
Het |
| Rpap2 |
G |
A |
5: 107,773,835 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,631,665 (GRCm39) |
N2120S |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,825,027 (GRCm39) |
|
probably benign |
Het |
| Sipa1 |
G |
T |
19: 5,702,099 (GRCm39) |
T937K |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,730,157 (GRCm39) |
D707E |
probably damaging |
Het |
| Tas2r109 |
T |
C |
6: 132,957,477 (GRCm39) |
N151S |
probably benign |
Het |
| Try5 |
T |
C |
6: 41,290,358 (GRCm39) |
N42S |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,732,338 (GRCm39) |
|
probably benign |
Het |
| Utp14b |
A |
G |
1: 78,642,636 (GRCm39) |
E178G |
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation