Incidental Mutation 'R6831:Alcam'
| ID |
537875 |
| 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 |
044941-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.292)
|
| Stock # |
R6831 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52130264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 29
(Y29H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023312]
[ENSMUST00000164728]
[ENSMUST00000168071]
[ENSMUST00000170035]
|
| AlphaFold |
Q61490 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023312
AA Change: Y29H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: Y29H
| 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: Y29H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: Y29H
| 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: ENSMUST00000168071
AA Change: Y29H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000131001
Gene: ENSMUSG00000022636
AA Change: Y29H
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
131 |
8.46e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170035
AA Change: Y29H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: Y29H
| 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: 99.6%
- 20x: 98.8%
|
| 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 |
|---|
| 9330159F19Rik |
T |
G |
10: 29,100,675 (GRCm39) |
D349E |
probably benign |
Het |
| Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
| Akr1cl |
C |
T |
1: 65,053,831 (GRCm39) |
|
probably null |
Het |
| Alg3 |
A |
T |
16: 20,427,497 (GRCm39) |
S25T |
probably damaging |
Het |
| Amdhd1 |
T |
G |
10: 93,363,118 (GRCm39) |
L323F |
probably damaging |
Het |
| Apcdd1 |
C |
A |
18: 63,083,197 (GRCm39) |
Y342* |
probably null |
Het |
| Aqp9 |
T |
A |
9: 71,069,702 (GRCm39) |
|
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,257,933 (GRCm39) |
T1326A |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,297,860 (GRCm39) |
V1238A |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,233,748 (GRCm39) |
D440G |
probably damaging |
Het |
| Dnah5 |
G |
C |
15: 28,411,661 (GRCm39) |
G3677R |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
| E330034G19Rik |
T |
C |
14: 24,346,163 (GRCm39) |
S25P |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fat3 |
C |
A |
9: 16,287,847 (GRCm39) |
V559L |
probably damaging |
Het |
| Fra10ac1 |
A |
T |
19: 38,195,737 (GRCm39) |
I162K |
probably benign |
Het |
| Glrx3 |
C |
T |
7: 137,060,951 (GRCm39) |
T195M |
possibly damaging |
Het |
| Gm9949 |
T |
A |
18: 62,313,616 (GRCm39) |
|
probably benign |
Het |
| Hbs1l |
T |
C |
10: 21,217,767 (GRCm39) |
S228P |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,646,044 (GRCm39) |
T718I |
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,857,067 (GRCm39) |
S1010P |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,629,198 (GRCm39) |
Y394* |
probably null |
Het |
| Itpr2 |
G |
A |
6: 146,013,927 (GRCm39) |
T2623M |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,072,496 (GRCm39) |
C67* |
probably null |
Het |
| Lama1 |
T |
A |
17: 68,063,749 (GRCm39) |
C758S |
possibly damaging |
Het |
| Mdga1 |
T |
A |
17: 30,106,490 (GRCm39) |
K274* |
probably null |
Het |
| Neu2 |
G |
A |
1: 87,524,455 (GRCm39) |
G147R |
probably damaging |
Het |
| Nkx1-1 |
A |
T |
5: 33,591,147 (GRCm39) |
S58R |
unknown |
Het |
| Or2ag16 |
A |
T |
7: 106,351,778 (GRCm39) |
N272K |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,706,086 (GRCm39) |
D211G |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pacs1 |
T |
A |
19: 5,210,823 (GRCm39) |
I151F |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,445,276 (GRCm39) |
R270C |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,838,443 (GRCm39) |
Q1417* |
probably null |
Het |
| Pkm |
G |
C |
9: 59,582,398 (GRCm39) |
M409I |
probably benign |
Het |
| Plbd2 |
T |
A |
5: 120,631,131 (GRCm39) |
K215N |
probably benign |
Het |
| Polk |
T |
C |
13: 96,631,999 (GRCm39) |
K245E |
possibly damaging |
Het |
| Pramel17 |
T |
A |
4: 101,694,094 (GRCm39) |
Q263L |
probably benign |
Het |
| Prl |
T |
G |
13: 27,243,530 (GRCm39) |
I65S |
probably benign |
Het |
| Proser3 |
T |
C |
7: 30,239,781 (GRCm39) |
H441R |
probably benign |
Het |
| Psmb3 |
A |
G |
11: 97,597,728 (GRCm39) |
K98R |
probably benign |
Het |
| Ptpn20 |
T |
C |
14: 33,354,882 (GRCm39) |
V319A |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,290,991 (GRCm39) |
Y397N |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,420,087 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
T |
A |
5: 113,428,246 (GRCm39) |
Y314F |
probably damaging |
Het |
| Sh3pxd2a |
G |
A |
19: 47,271,532 (GRCm39) |
R244C |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,461,767 (GRCm39) |
V3466M |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 76,013,568 (GRCm39) |
F2921I |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
| Trmt112 |
T |
A |
19: 6,887,563 (GRCm39) |
L4H |
probably damaging |
Het |
| Trmu |
A |
G |
15: 85,779,207 (GRCm39) |
T285A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,601,846 (GRCm39) |
|
probably null |
Het |
| Vmn2r-ps158 |
G |
C |
7: 42,673,004 (GRCm39) |
A143P |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,103 (GRCm39) |
M573K |
probably benign |
Het |
| Zcchc8 |
T |
C |
5: 123,838,972 (GRCm39) |
E522G |
probably damaging |
Het |
| Zfp354a |
T |
C |
11: 50,961,381 (GRCm39) |
S529P |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
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 |
|
|
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'- GACAAAGCAGATCCTTCTATAACTG -3'
(R):5'- GCTACTTGAATACTAGCATTTCTCC -3'
Sequencing Primer
(F):5'- TGTCAGTGTTACATACTCTCAGAG -3'
(R):5'- AGAGGTAAATTTGATAATCCGTTCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation