Incidental Mutation 'R5278:Alcam'
| ID |
404074 |
| 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 |
042865-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R5278 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52094638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 371
(I371T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023312]
[ENSMUST00000164728]
[ENSMUST00000170035]
|
| AlphaFold |
Q61490 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023312
AA Change: I371T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: I371T
| 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 benign
Transcript: ENSMUST00000164728
AA Change: I371T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: I371T
| 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: I132T
|
| SMART Domains |
Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636
AA Change: I132T
| 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 benign
Transcript: ENSMUST00000170035
AA Change: I371T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: I371T
| 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 |
0.0639 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
C |
T |
5: 35,745,500 (GRCm39) |
|
probably benign |
Het |
| Acvr2b |
G |
A |
9: 119,261,555 (GRCm39) |
V383I |
probably damaging |
Het |
| Akap12 |
T |
C |
10: 4,304,792 (GRCm39) |
M534T |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,052,888 (GRCm39) |
E26K |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,552,203 (GRCm39) |
T794A |
probably benign |
Het |
| Apeh |
G |
A |
9: 107,968,457 (GRCm39) |
P349S |
probably benign |
Het |
| Asb7 |
G |
T |
7: 66,328,933 (GRCm39) |
Q36K |
possibly damaging |
Het |
| Asl |
A |
G |
5: 130,047,672 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
A |
4: 140,728,129 (GRCm39) |
I574N |
probably damaging |
Het |
| Bcl2l2 |
T |
A |
14: 55,122,251 (GRCm39) |
I138N |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 30,074,881 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
C |
T |
7: 16,012,306 (GRCm39) |
W1* |
probably null |
Het |
| Cdh18 |
T |
A |
15: 23,474,244 (GRCm39) |
S705T |
probably benign |
Het |
| Ces5a |
A |
T |
8: 94,252,266 (GRCm39) |
W209R |
probably damaging |
Het |
| Chpf2 |
T |
A |
5: 24,793,088 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
A |
17: 46,821,799 (GRCm39) |
H1892L |
probably damaging |
Het |
| Cxcl13 |
A |
G |
5: 96,106,586 (GRCm39) |
T53A |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,505,309 (GRCm39) |
Y385F |
possibly damaging |
Het |
| Ddx46 |
A |
G |
13: 55,823,851 (GRCm39) |
E915G |
probably damaging |
Het |
| Elovl3 |
G |
A |
19: 46,122,540 (GRCm39) |
V113I |
probably benign |
Het |
| Fam53c |
A |
T |
18: 34,895,671 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,384,752 (GRCm39) |
F349L |
probably benign |
Het |
| Fuz |
C |
T |
7: 44,545,701 (GRCm39) |
P9L |
probably benign |
Het |
| Igf1r |
C |
T |
7: 67,843,166 (GRCm39) |
T759M |
possibly damaging |
Het |
| Impg2 |
G |
A |
16: 56,041,880 (GRCm39) |
D175N |
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,543,444 (GRCm39) |
R43L |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,919,077 (GRCm39) |
E816G |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,803,641 (GRCm39) |
D262E |
probably damaging |
Het |
| Mrpl48 |
A |
G |
7: 100,201,790 (GRCm39) |
V156A |
probably damaging |
Het |
| Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,225,390 (GRCm39) |
I252V |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,021,134 (GRCm39) |
W449R |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,655 (GRCm39) |
L221P |
probably damaging |
Het |
| Or2l5 |
A |
T |
16: 19,334,128 (GRCm39) |
L86* |
probably null |
Het |
| Pank4 |
T |
C |
4: 155,056,622 (GRCm39) |
L351P |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,609,973 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC |
CCATCAGGATGCACATCAGGATCC |
6: 4,756,442 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
T |
A |
7: 120,522,184 (GRCm39) |
I10K |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,532,838 (GRCm39) |
I1489T |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
A |
G |
11: 32,331,447 (GRCm39) |
D57G |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,622,612 (GRCm39) |
|
probably null |
Het |
| Slc15a4 |
A |
T |
5: 127,694,033 (GRCm39) |
V134E |
probably damaging |
Het |
| Slc49a4 |
A |
G |
16: 35,518,358 (GRCm39) |
S452P |
probably damaging |
Het |
| Stxbp5l |
G |
T |
16: 37,007,016 (GRCm39) |
Q726K |
probably benign |
Het |
| Tesk2 |
T |
G |
4: 116,663,133 (GRCm39) |
|
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,639 (GRCm39) |
S264P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,704,209 (GRCm39) |
Q1003R |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,739,868 (GRCm39) |
R628H |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,991 (GRCm39) |
H198Y |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGCCTGATATCAAGTTCTTGAAG -3'
(R):5'- GACCCATGTAATAACCTTGGGC -3'
Sequencing Primer
(F):5'- GAAGAACAAGATAATTGCTGCTAAAG -3'
(R):5'- TATTGGGATCCAGAAGCAGCTCAATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation