Incidental Mutation 'R6434:Alcam'
ID |
518729 |
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 |
044572-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R6434 (G1)
|
Quality Score |
101.008 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
Type of Mutation |
splice site (91 bp from exon) |
DNA Base Change (assembly) |
A to C
at 52109190 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 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: 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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
98% (57/58) |
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 |
Ankle2 |
A |
G |
5: 110,401,759 (GRCm39) |
Y807C |
probably damaging |
Het |
Arhgef26 |
A |
C |
3: 62,336,335 (GRCm39) |
M625L |
probably damaging |
Het |
Aspdh |
G |
A |
7: 44,116,474 (GRCm39) |
A86T |
probably damaging |
Het |
Atl1 |
G |
T |
12: 70,006,199 (GRCm39) |
E502* |
probably null |
Het |
Atp6v1c1 |
T |
C |
15: 38,677,790 (GRCm39) |
F105S |
probably damaging |
Het |
Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
Ccdc81 |
T |
C |
7: 89,525,352 (GRCm39) |
Y474C |
probably damaging |
Het |
Ccdc82 |
T |
C |
9: 13,251,659 (GRCm39) |
|
probably benign |
Het |
Ccdc96 |
T |
G |
5: 36,643,707 (GRCm39) |
V571G |
probably damaging |
Het |
Col6a5 |
C |
A |
9: 105,814,544 (GRCm39) |
E489D |
unknown |
Het |
Dchs2 |
T |
A |
3: 83,176,577 (GRCm39) |
I845N |
probably damaging |
Het |
Dnajc11 |
T |
C |
4: 152,063,751 (GRCm39) |
V449A |
probably damaging |
Het |
Ect2 |
A |
T |
3: 27,193,268 (GRCm39) |
Y269* |
probably null |
Het |
Egfr |
T |
C |
11: 16,819,294 (GRCm39) |
Y275H |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,004,129 (GRCm39) |
D779V |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,123,942 (GRCm39) |
V200A |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,884,253 (GRCm39) |
I1214T |
probably benign |
Het |
Gm3415 |
T |
A |
5: 146,494,752 (GRCm39) |
F138L |
probably benign |
Het |
Gtse1 |
C |
A |
15: 85,759,370 (GRCm39) |
T626K |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,393,464 (GRCm39) |
H4114Q |
probably damaging |
Het |
Ifi44 |
T |
A |
3: 151,454,826 (GRCm39) |
N133I |
probably benign |
Het |
Ilf3 |
A |
G |
9: 21,314,447 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,437,919 (GRCm39) |
T593A |
probably damaging |
Het |
Iqgap2 |
A |
T |
13: 95,819,441 (GRCm39) |
W634R |
possibly damaging |
Het |
Kcnh4 |
T |
A |
11: 100,641,105 (GRCm39) |
N448I |
probably damaging |
Het |
Klhl33 |
G |
A |
14: 51,130,564 (GRCm39) |
A310V |
probably damaging |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Lrig2 |
T |
C |
3: 104,398,863 (GRCm39) |
K222E |
possibly damaging |
Het |
Manba |
G |
A |
3: 135,217,734 (GRCm39) |
|
probably null |
Het |
Mga |
A |
T |
2: 119,754,419 (GRCm39) |
Q976L |
probably damaging |
Het |
Mtmr4 |
A |
G |
11: 87,504,309 (GRCm39) |
D1086G |
probably damaging |
Het |
Muc20 |
A |
G |
16: 32,615,176 (GRCm39) |
V67A |
probably benign |
Het |
Myh3 |
T |
A |
11: 66,973,193 (GRCm39) |
L97Q |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,640,872 (GRCm39) |
T195A |
probably benign |
Het |
Npat |
A |
T |
9: 53,474,739 (GRCm39) |
I844L |
possibly damaging |
Het |
Nrxn3 |
T |
C |
12: 88,762,285 (GRCm39) |
F111L |
probably benign |
Het |
Obp2b |
T |
C |
2: 25,628,599 (GRCm39) |
Y118H |
probably damaging |
Het |
Or5w1 |
T |
A |
2: 87,486,558 (GRCm39) |
K236* |
probably null |
Het |
Or7e170 |
A |
T |
9: 19,795,141 (GRCm39) |
Y153* |
probably null |
Het |
Patj |
A |
G |
4: 98,379,866 (GRCm39) |
D215G |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,680,196 (GRCm39) |
Y979* |
probably null |
Het |
Septin3 |
G |
A |
15: 82,163,804 (GRCm39) |
V54I |
possibly damaging |
Het |
Shc3 |
A |
G |
13: 51,603,326 (GRCm39) |
Y260H |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,674,477 (GRCm39) |
T942A |
probably benign |
Het |
Slco1c1 |
T |
C |
6: 141,493,576 (GRCm39) |
S371P |
probably damaging |
Het |
Snrnp200 |
T |
A |
2: 127,080,574 (GRCm39) |
I2029N |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,268,422 (GRCm39) |
V2089A |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,088,230 (GRCm39) |
S5016P |
probably damaging |
Het |
Tril |
G |
C |
6: 53,795,493 (GRCm39) |
D576E |
probably damaging |
Het |
Tubb2b |
C |
T |
13: 34,311,561 (GRCm39) |
A411T |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,156,949 (GRCm39) |
Y2325H |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,608,395 (GRCm39) |
C1547* |
probably null |
Het |
Utrn |
A |
T |
10: 12,401,171 (GRCm39) |
W98R |
probably damaging |
Het |
Vps35 |
C |
T |
8: 86,000,124 (GRCm39) |
D501N |
possibly damaging |
Het |
Wdr48 |
T |
C |
9: 119,745,879 (GRCm39) |
S421P |
possibly damaging |
Het |
Yju2b |
A |
G |
8: 84,989,630 (GRCm39) |
I63T |
probably damaging |
Het |
Zfp719 |
C |
A |
7: 43,240,412 (GRCm39) |
H667N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTAGTGTTACTGTTGACTGAAGAC -3'
(R):5'- TTACACACTGACAGATGTGAGACG -3'
Sequencing Primer
(F):5'- TGTTACTGTTGACTGAAGACATTTAG -3'
(R):5'- TGTGAGACGCAATGCCAC -3'
|
Posted On |
2018-05-24 |