Incidental Mutation 'IGL02678:Alcam'
| ID |
303250 |
| 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 # |
IGL02678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 52094401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 416
(P416S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023312]
[ENSMUST00000164728]
[ENSMUST00000170035]
|
| AlphaFold |
Q61490 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023312
AA Change: P416S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: P416S
| 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 |
probably damaging
Transcript: ENSMUST00000164728
AA Change: P416S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: P416S
| 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 |
unknown
Transcript: ENSMUST00000167115
AA Change: P177S
|
| SMART Domains |
Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636
AA Change: P177S
| 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 damaging
Transcript: ENSMUST00000170035
AA Change: P416S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: P416S
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,035,867 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,410,177 (GRCm39) |
E272G |
probably damaging |
Het |
| B3galt1 |
A |
G |
2: 67,949,254 (GRCm39) |
H323R |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,163,697 (GRCm39) |
S665N |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,956,898 (GRCm39) |
S3631P |
probably damaging |
Het |
| Capn3 |
A |
C |
2: 120,333,479 (GRCm39) |
N621T |
probably damaging |
Het |
| Cblif |
T |
C |
19: 11,725,839 (GRCm39) |
M43T |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,437,151 (GRCm39) |
H480Y |
probably damaging |
Het |
| Ccr2 |
T |
A |
9: 123,906,783 (GRCm39) |
D354E |
probably benign |
Het |
| Cdc42bpb |
T |
G |
12: 111,292,530 (GRCm39) |
D335A |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,830,646 (GRCm39) |
Y360C |
probably damaging |
Het |
| Chrd |
G |
T |
16: 20,552,770 (GRCm39) |
R89L |
probably damaging |
Het |
| Cops2 |
T |
C |
2: 125,686,831 (GRCm39) |
R91G |
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,266,106 (GRCm39) |
T88A |
probably benign |
Het |
| Dnai1 |
A |
C |
4: 41,602,917 (GRCm39) |
E140A |
probably benign |
Het |
| Eif1ad17 |
C |
A |
12: 87,978,946 (GRCm39) |
P110Q |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,751,814 (GRCm39) |
D2063G |
probably damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,623,584 (GRCm39) |
|
probably benign |
Het |
| Gng7 |
C |
A |
10: 80,787,518 (GRCm39) |
L48F |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,057,246 (GRCm39) |
C2725F |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,583,373 (GRCm39) |
K159R |
probably damaging |
Het |
| Insr |
G |
T |
8: 3,223,570 (GRCm39) |
N854K |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,971,610 (GRCm39) |
|
probably null |
Het |
| Lcat |
A |
G |
8: 106,668,572 (GRCm39) |
|
probably null |
Het |
| Mb21d2 |
T |
C |
16: 28,646,801 (GRCm39) |
E391G |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,942,915 (GRCm39) |
S354P |
possibly damaging |
Het |
| Mx2 |
G |
A |
16: 97,357,320 (GRCm39) |
|
probably null |
Het |
| Mycl |
G |
A |
4: 122,893,776 (GRCm39) |
R192Q |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 12,786,836 (GRCm39) |
V78A |
probably benign |
Het |
| Nipbl |
G |
T |
15: 8,380,594 (GRCm39) |
P733T |
possibly damaging |
Het |
| Nploc4 |
A |
G |
11: 120,280,198 (GRCm39) |
I450T |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,757 (GRCm39) |
E389V |
probably benign |
Het |
| Or8g30 |
C |
T |
9: 39,230,217 (GRCm39) |
S231N |
probably benign |
Het |
| Oxgr1 |
A |
G |
14: 120,259,580 (GRCm39) |
L209P |
probably damaging |
Het |
| Pak1 |
A |
C |
7: 97,543,209 (GRCm39) |
T291P |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,240,045 (GRCm39) |
I338K |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,195 (GRCm39) |
D364G |
probably damaging |
Het |
| Pomk |
G |
A |
8: 26,473,135 (GRCm39) |
P273S |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,453,418 (GRCm39) |
I38F |
probably damaging |
Het |
| Rbks |
G |
T |
5: 31,830,757 (GRCm39) |
T42N |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,832,107 (GRCm39) |
V20A |
probably damaging |
Het |
| Six4 |
T |
C |
12: 73,159,408 (GRCm39) |
Y176C |
probably damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,310,081 (GRCm39) |
M9L |
possibly damaging |
Het |
| Slc16a11 |
T |
C |
11: 70,106,242 (GRCm39) |
L112S |
probably damaging |
Het |
| Slc25a28 |
A |
T |
19: 43,655,586 (GRCm39) |
|
probably benign |
Het |
| Slc30a3 |
G |
A |
5: 31,245,676 (GRCm39) |
R237* |
probably null |
Het |
| Slco1a8 |
A |
T |
6: 141,954,444 (GRCm39) |
Y10N |
probably damaging |
Het |
| Smc1b |
G |
A |
15: 84,949,201 (GRCm39) |
R1237* |
probably null |
Het |
| Smtn |
T |
C |
11: 3,476,353 (GRCm39) |
E585G |
possibly damaging |
Het |
| Spatc1 |
A |
T |
15: 76,176,572 (GRCm39) |
D441V |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,426 (GRCm39) |
N2481D |
probably damaging |
Het |
| Tnks2 |
A |
T |
19: 36,823,143 (GRCm39) |
I137F |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,849,649 (GRCm39) |
K1472E |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,708,660 (GRCm39) |
E1846* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,221,640 (GRCm39) |
D532G |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,349,067 (GRCm39) |
H168L |
probably damaging |
Het |
| Zfp977 |
G |
A |
7: 42,232,419 (GRCm39) |
T14I |
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 |
|
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 |
|
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 |
Incidental Mutation