Incidental Mutation 'R5088:Alcam'
ID |
387603 |
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 |
042677-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R5088 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 52109290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 328
(T328S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023312]
[ENSMUST00000164728]
[ENSMUST00000170035]
|
AlphaFold |
Q61490 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023312
AA Change: T328S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023312 Gene: ENSMUSG00000022636 AA Change: T328S
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: T328S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127141 Gene: ENSMUSG00000022636 AA Change: T328S
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 damaging
Transcript: ENSMUST00000170035
AA Change: T328S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129714 Gene: ENSMUSG00000022636 AA Change: T328S
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 |
0.3490 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
99% (72/73) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,883,939 (GRCm39) |
C640S |
probably damaging |
Het |
4931429L15Rik |
T |
C |
9: 46,217,038 (GRCm39) |
R246G |
probably benign |
Het |
Aak1 |
T |
C |
6: 86,921,462 (GRCm39) |
|
probably null |
Het |
Abcc5 |
A |
G |
16: 20,195,412 (GRCm39) |
L695P |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,478,969 (GRCm39) |
|
probably benign |
Het |
Arel1 |
A |
G |
12: 84,970,889 (GRCm39) |
L642P |
probably damaging |
Het |
Atrip |
T |
C |
9: 108,888,964 (GRCm39) |
D741G |
probably damaging |
Het |
Bmp1 |
T |
C |
14: 70,723,659 (GRCm39) |
T726A |
possibly damaging |
Het |
Bnip3 |
A |
G |
7: 138,496,337 (GRCm39) |
|
probably null |
Het |
Cacng5 |
C |
G |
11: 107,768,215 (GRCm39) |
C264S |
possibly damaging |
Het |
Calr4 |
T |
A |
4: 109,101,859 (GRCm39) |
|
probably benign |
Het |
Cdhr1 |
T |
A |
14: 36,811,422 (GRCm39) |
T230S |
probably benign |
Het |
Cdk16 |
T |
C |
X: 20,562,566 (GRCm39) |
|
probably benign |
Het |
Cenpj |
T |
C |
14: 56,791,148 (GRCm39) |
E337G |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,704,147 (GRCm39) |
I694V |
possibly damaging |
Het |
Chsy3 |
T |
A |
18: 59,312,607 (GRCm39) |
V360D |
probably damaging |
Het |
Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
Cyp20a1 |
A |
T |
1: 60,402,509 (GRCm39) |
H198L |
probably damaging |
Het |
Dnai1 |
T |
A |
4: 41,597,630 (GRCm39) |
S38T |
probably benign |
Het |
Dnai1 |
T |
G |
4: 41,632,251 (GRCm39) |
S562A |
probably benign |
Het |
Dpy19l4 |
G |
T |
4: 11,303,357 (GRCm39) |
T188K |
probably damaging |
Het |
Ergic2 |
A |
G |
6: 148,084,621 (GRCm39) |
V304A |
probably damaging |
Het |
Fam83a |
A |
G |
15: 57,873,196 (GRCm39) |
T342A |
probably benign |
Het |
Fbxo7 |
A |
G |
10: 85,857,784 (GRCm39) |
|
probably benign |
Het |
Gins4 |
T |
C |
8: 23,727,084 (GRCm39) |
E3G |
possibly damaging |
Het |
Glis3 |
G |
A |
19: 28,508,979 (GRCm39) |
P335L |
probably benign |
Het |
Golph3l |
A |
T |
3: 95,524,501 (GRCm39) |
T251S |
possibly damaging |
Het |
Hnf4g |
C |
T |
3: 3,722,181 (GRCm39) |
A445V |
probably benign |
Het |
Hykk |
A |
G |
9: 54,853,763 (GRCm39) |
I362V |
probably benign |
Het |
Il6st |
G |
A |
13: 112,627,089 (GRCm39) |
V294M |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,366,348 (GRCm39) |
I92V |
probably damaging |
Het |
Kdm4c |
T |
C |
4: 74,252,936 (GRCm39) |
L501P |
probably benign |
Het |
Mpi |
G |
A |
9: 57,457,887 (GRCm39) |
T105M |
probably damaging |
Het |
Mrpl37 |
A |
T |
4: 106,921,919 (GRCm39) |
L132H |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,350,056 (GRCm39) |
T600S |
possibly damaging |
Het |
Npl |
A |
T |
1: 153,384,890 (GRCm39) |
I249N |
possibly damaging |
Het |
Or10j27 |
C |
T |
1: 172,958,606 (GRCm39) |
M59I |
probably damaging |
Het |
Or7g30 |
A |
G |
9: 19,353,067 (GRCm39) |
N286S |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,809,812 (GRCm39) |
K3497E |
possibly damaging |
Het |
Ptprt |
T |
C |
2: 162,080,095 (GRCm39) |
N235D |
probably benign |
Het |
Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
Rcvrn |
A |
T |
11: 67,586,340 (GRCm39) |
Q33L |
probably benign |
Het |
Rif1 |
A |
T |
2: 51,982,307 (GRCm39) |
K524I |
possibly damaging |
Het |
Rnf139 |
A |
T |
15: 58,771,790 (GRCm39) |
N605I |
possibly damaging |
Het |
Ryr2 |
C |
A |
13: 11,727,129 (GRCm39) |
G2411* |
probably null |
Het |
Scn3a |
A |
T |
2: 65,302,643 (GRCm39) |
S1268T |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,382,196 (GRCm39) |
I784F |
probably damaging |
Het |
Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
Skint7 |
T |
C |
4: 111,837,627 (GRCm39) |
I135T |
possibly damaging |
Het |
Smchd1 |
A |
T |
17: 71,738,343 (GRCm39) |
N507K |
possibly damaging |
Het |
Spata31d1a |
A |
C |
13: 59,848,966 (GRCm39) |
|
probably null |
Het |
Spata7 |
A |
T |
12: 98,635,761 (GRCm39) |
D527V |
probably benign |
Het |
Srcap |
A |
G |
7: 127,140,833 (GRCm39) |
T1477A |
probably benign |
Het |
Srl |
C |
A |
16: 4,300,633 (GRCm39) |
D375Y |
probably damaging |
Het |
Stk4 |
A |
T |
2: 163,925,608 (GRCm39) |
K58* |
probably null |
Het |
Svep1 |
T |
G |
4: 58,120,648 (GRCm39) |
H795P |
possibly damaging |
Het |
Trak2 |
T |
A |
1: 58,974,967 (GRCm39) |
Q75L |
probably benign |
Het |
Ubxn2a |
T |
A |
12: 4,933,904 (GRCm39) |
N169I |
probably damaging |
Het |
Vmn1r216 |
T |
A |
13: 23,283,473 (GRCm39) |
L52* |
probably null |
Het |
Vmn2r108 |
A |
T |
17: 20,690,454 (GRCm39) |
N459K |
possibly damaging |
Het |
Vstm5 |
A |
G |
9: 15,168,601 (GRCm39) |
D55G |
possibly damaging |
Het |
Wdr24 |
T |
A |
17: 26,047,181 (GRCm39) |
|
probably null |
Het |
Zfp13 |
C |
A |
17: 23,796,035 (GRCm39) |
E179* |
probably null |
Het |
Zfp839 |
T |
C |
12: 110,834,610 (GRCm39) |
S546P |
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 |
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'- CGCACACTTATGCAAGGATTCTG -3'
(R):5'- TGTAGCTACCAAGTGTAACCATC -3'
Sequencing Primer
(F):5'- TGCAAGGATTCTGTACCACAATGG -3'
(R):5'- CTGACATTTTTCCTCTGTCTAAAGGG -3'
|
Posted On |
2016-06-06 |