Incidental Mutation 'R7631:Alcam'
ID |
628218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alcam
|
Ensembl Gene |
ENSMUSG00000022636 |
Gene Name |
activated leukocyte cell adhesion molecule |
Synonyms |
MuSC, SC1, BEN, CD166, DM-GRASP |
MMRRC Submission |
045692-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.292)
|
Stock # |
R7631 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 52109276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023312]
[ENSMUST00000023312]
[ENSMUST00000023312]
[ENSMUST00000164728]
[ENSMUST00000164728]
[ENSMUST00000164728]
[ENSMUST00000170035]
[ENSMUST00000170035]
[ENSMUST00000170035]
|
AlphaFold |
Q61490 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
87% (46/53) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
T |
A |
6: 34,834,606 (GRCm39) |
L930H |
possibly damaging |
Het |
Albfm1 |
T |
C |
5: 90,727,531 (GRCm39) |
L383S |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 97,015,462 (GRCm39) |
H1577R |
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,302,694 (GRCm39) |
N9S |
probably benign |
Het |
Cpne9 |
T |
C |
6: 113,279,079 (GRCm39) |
V491A |
possibly damaging |
Het |
Cyb5d1 |
A |
T |
11: 69,285,865 (GRCm39) |
L57Q |
possibly damaging |
Het |
Cyp7a1 |
T |
A |
4: 6,272,763 (GRCm39) |
Q150L |
possibly damaging |
Het |
D430041D05Rik |
A |
C |
2: 103,979,363 (GRCm39) |
Y1336* |
probably null |
Het |
Dcaf7 |
T |
C |
11: 105,944,579 (GRCm39) |
V254A |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,408,445 (GRCm39) |
T1796A |
probably benign |
Het |
Defa27 |
T |
A |
8: 21,805,657 (GRCm39) |
D32E |
probably benign |
Het |
Eno2 |
T |
C |
6: 124,744,019 (GRCm39) |
E96G |
probably benign |
Het |
Fbxw19 |
T |
A |
9: 109,311,069 (GRCm39) |
Y380F |
probably damaging |
Het |
Fer1l4 |
A |
T |
2: 155,890,195 (GRCm39) |
N243K |
probably damaging |
Het |
Fndc7 |
G |
A |
3: 108,776,568 (GRCm39) |
A491V |
probably damaging |
Het |
Gm14305 |
A |
G |
2: 176,410,790 (GRCm39) |
Q15R |
probably benign |
Het |
Gpr155 |
T |
C |
2: 73,213,291 (GRCm39) |
|
probably benign |
Het |
Grm5 |
A |
G |
7: 87,624,513 (GRCm39) |
H360R |
probably damaging |
Het |
Ifi203 |
G |
A |
1: 173,754,688 (GRCm39) |
T681I |
unknown |
Het |
Klc2 |
A |
G |
19: 5,158,647 (GRCm39) |
S616P |
probably benign |
Het |
Lifr |
A |
G |
15: 7,214,258 (GRCm39) |
Y704C |
probably damaging |
Het |
Lingo4 |
A |
C |
3: 94,306,767 (GRCm39) |
D15A |
possibly damaging |
Het |
Lrrc74a |
A |
T |
12: 86,795,884 (GRCm39) |
N286Y |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,669,963 (GRCm39) |
T374A |
not run |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Naa25 |
A |
G |
5: 121,576,791 (GRCm39) |
T847A |
possibly damaging |
Het |
Nrxn2 |
T |
A |
19: 6,531,825 (GRCm39) |
M763K |
possibly damaging |
Het |
Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
Or1p4-ps1 |
A |
C |
11: 74,208,357 (GRCm39) |
T169P |
unknown |
Het |
Or2r3 |
T |
A |
6: 42,448,870 (GRCm39) |
M81L |
probably benign |
Het |
Or5m11 |
A |
T |
2: 85,782,218 (GRCm39) |
E270D |
probably benign |
Het |
Or8c13 |
A |
T |
9: 38,092,002 (GRCm39) |
V39E |
probably damaging |
Het |
Otx1 |
G |
A |
11: 21,949,458 (GRCm39) |
Q7* |
probably null |
Het |
Pabpc4 |
T |
G |
4: 123,182,763 (GRCm39) |
D133E |
probably damaging |
Het |
Pcsk5 |
A |
T |
19: 17,542,144 (GRCm39) |
C816S |
probably damaging |
Het |
Pgm2 |
A |
G |
5: 64,265,522 (GRCm39) |
T408A |
possibly damaging |
Het |
Polr2m |
G |
C |
9: 71,390,757 (GRCm39) |
Y148* |
probably null |
Het |
Reln |
T |
C |
5: 22,176,933 (GRCm39) |
N1911S |
probably damaging |
Het |
Scaf4 |
T |
C |
16: 90,026,445 (GRCm39) |
D1124G |
unknown |
Het |
Scgb1b19 |
C |
T |
7: 32,986,784 (GRCm39) |
T18I |
probably damaging |
Het |
Septin12 |
T |
A |
16: 4,814,320 (GRCm39) |
I50F |
probably damaging |
Het |
Slc25a20 |
T |
A |
9: 108,539,491 (GRCm39) |
M22K |
probably benign |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Smchd1 |
A |
G |
17: 71,705,684 (GRCm39) |
F972L |
probably benign |
Het |
Spem1 |
T |
C |
11: 69,712,409 (GRCm39) |
Y85C |
probably benign |
Het |
Strip1 |
C |
T |
3: 107,524,247 (GRCm39) |
V557I |
possibly damaging |
Het |
Tcirg1 |
G |
T |
19: 3,947,160 (GRCm39) |
Q634K |
probably damaging |
Het |
Tma7 |
T |
A |
9: 108,911,507 (GRCm39) |
|
probably benign |
Het |
Tmem204 |
A |
G |
17: 25,299,414 (GRCm39) |
L35P |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,626,702 (GRCm39) |
T351A |
probably benign |
Het |
Tubb2a |
A |
G |
13: 34,259,227 (GRCm39) |
S188P |
probably damaging |
Het |
Ubr5 |
C |
A |
15: 38,029,751 (GRCm39) |
L485F |
|
Het |
Vmn1r71 |
A |
T |
7: 10,482,378 (GRCm39) |
S103R |
probably damaging |
Het |
Vmn2r40 |
C |
T |
7: 8,911,119 (GRCm39) |
D725N |
|
Het |
Zfp473 |
T |
C |
7: 44,383,128 (GRCm39) |
R402G |
possibly damaging |
Het |
Zfp82 |
A |
T |
7: 29,755,851 (GRCm39) |
S410R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAAGGATTCTGTACCACAATGG -3'
(R):5'- TTGTAGCTACCAAGTGTAACCATC -3'
Sequencing Primer
(F):5'- GGTTACCTGCATGAAAGTTCAG -3'
(R):5'- CTGACATTTTTCCTCTGTCTAAAGGG -3'
|
Posted On |
2020-02-11 |