Incidental Mutation 'PIT4402001:Alcam'
| ID |
555548 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4402001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52115497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 207
(Y207C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023312]
[ENSMUST00000164728]
[ENSMUST00000170035]
|
| AlphaFold |
Q61490 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023312
AA Change: Y207C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: Y207C
| 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 damaging
Transcript: ENSMUST00000164728
AA Change: Y207C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: Y207C
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636
AA Change: Y55C
| 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: Y207C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: Y207C
| 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: 92.8%
- 3x: 90.3%
- 10x: 83.2%
- 20x: 68.1%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
G |
14: 59,380,084 (GRCm39) |
L71F |
probably damaging |
Het |
| Adamts9 |
C |
T |
6: 92,849,328 (GRCm39) |
V1044I |
probably benign |
Het |
| Aldh4a1 |
C |
A |
4: 139,369,502 (GRCm39) |
S351* |
probably null |
Het |
| Aoah |
C |
A |
13: 20,978,680 (GRCm39) |
S39R |
probably benign |
Het |
| Arcn1 |
A |
T |
9: 44,656,899 (GRCm39) |
V421E |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,306,485 (GRCm39) |
E300G |
possibly damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,557 (GRCm39) |
R126S |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,668,276 (GRCm39) |
I39V |
probably benign |
Het |
| Fam53b |
A |
T |
7: 132,361,746 (GRCm39) |
I94N |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,594,422 (GRCm39) |
H652R |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,039,803 (GRCm39) |
M157K |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,615,049 (GRCm39) |
I299N |
probably damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gns |
A |
G |
10: 121,212,611 (GRCm39) |
Y191C |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,462,063 (GRCm39) |
T690A |
possibly damaging |
Het |
| Gsk3b |
C |
T |
16: 37,909,763 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,233,000 (GRCm39) |
V1911A |
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,334,393 (GRCm39) |
K157E |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,091,369 (GRCm39) |
Y118H |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,752,359 (GRCm39) |
V1413A |
unknown |
Het |
| Mettl9 |
T |
A |
7: 120,656,440 (GRCm39) |
V190E |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,935,258 (GRCm39) |
L188P |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,777,719 (GRCm39) |
R1158S |
possibly damaging |
Het |
| Nacad |
T |
G |
11: 6,548,621 (GRCm39) |
Q1371P |
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,344,987 (GRCm39) |
M787V |
probably benign |
Het |
| Noxred1 |
A |
T |
12: 87,273,855 (GRCm39) |
I62K |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,316 (GRCm39) |
H86L |
probably benign |
Het |
| Or2d3b |
T |
A |
7: 106,514,294 (GRCm39) |
D296E |
possibly damaging |
Het |
| Or2y17 |
A |
G |
11: 49,232,226 (GRCm39) |
Y289C |
probably damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,657 (GRCm39) |
Y57C |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,818,185 (GRCm39) |
Y239H |
probably damaging |
Het |
| Pank1 |
A |
G |
19: 34,818,366 (GRCm39) |
Y233H |
probably damaging |
Het |
| Pccb |
G |
T |
9: 100,877,645 (GRCm39) |
D286E |
probably benign |
Het |
| Plek |
A |
C |
11: 16,940,121 (GRCm39) |
L196R |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,299,931 (GRCm39) |
H576R |
|
Het |
| Rbm47 |
T |
A |
5: 66,184,354 (GRCm39) |
Y83F |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,665,049 (GRCm39) |
Y787N |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,868,419 (GRCm39) |
A217E |
probably damaging |
Het |
| Suox |
G |
A |
10: 128,507,164 (GRCm39) |
A288V |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,640,873 (GRCm39) |
I501M |
probably damaging |
Het |
| Tjp2 |
C |
A |
19: 24,075,493 (GRCm39) |
G1042* |
probably null |
Het |
| Tmtc2 |
T |
C |
10: 105,249,268 (GRCm39) |
Y155C |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,516,359 (GRCm39) |
N600S |
probably benign |
Het |
| Zer1 |
T |
C |
2: 29,991,132 (GRCm39) |
I699V |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,618,687 (GRCm39) |
F227S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAATGAGGCTTGTGGAG -3'
(R):5'- TTGAATGACATCTTACCTCACTGAG -3'
Sequencing Primer
(F):5'- CTGAATGAGGCTTGTGGAGATTTAAG -3'
(R):5'- GACATCTTACCTCACTGAGTTTCAAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation