Incidental Mutation 'IGL02408:Mcam'
ID |
292173 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mcam
|
Ensembl Gene |
ENSMUSG00000032135 |
Gene Name |
melanoma cell adhesion molecule |
Synonyms |
s-endo, 1-gicerin, s-gicerin, CD146, Muc18 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.605)
|
Stock # |
IGL02408
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
44045946-44054024 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44051547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 469
(N469D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096451
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034650]
[ENSMUST00000098852]
[ENSMUST00000147836]
[ENSMUST00000149241]
[ENSMUST00000206147]
[ENSMUST00000206720]
[ENSMUST00000216002]
|
AlphaFold |
Q8R2Y2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034650
AA Change: N469D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000034650 Gene: ENSMUSG00000032135 AA Change: N469D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IG
|
35 |
135 |
6.61e-4 |
SMART |
IG_like
|
155 |
213 |
4.22e-1 |
SMART |
IG
|
259 |
343 |
8.13e-4 |
SMART |
IGc2
|
358 |
416 |
3.4e-6 |
SMART |
IG_like
|
445 |
508 |
1.92e0 |
SMART |
low complexity region
|
511 |
525 |
N/A |
INTRINSIC |
transmembrane domain
|
562 |
584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098852
AA Change: N469D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000096451 Gene: ENSMUSG00000032135 AA Change: N469D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IG
|
35 |
135 |
6.61e-4 |
SMART |
IG_like
|
155 |
213 |
4.22e-1 |
SMART |
IG
|
259 |
343 |
8.13e-4 |
SMART |
IGc2
|
358 |
416 |
3.4e-6 |
SMART |
IG_like
|
445 |
508 |
1.92e0 |
SMART |
low complexity region
|
511 |
525 |
N/A |
INTRINSIC |
transmembrane domain
|
562 |
584 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132490
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147836
|
SMART Domains |
Protein: ENSMUSP00000117924 Gene: ENSMUSG00000032135
Domain | Start | End | E-Value | Type |
Pfam:V-set
|
2 |
97 |
2.4e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149241
|
SMART Domains |
Protein: ENSMUSP00000121090 Gene: ENSMUSG00000032135
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206147
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206163
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206720
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216002
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells exhibit impaired VEGF-induced angiogenesis in Matrigel. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,621,130 (GRCm39) |
Y278C |
probably damaging |
Het |
Abcd2 |
A |
G |
15: 91,062,444 (GRCm39) |
L498P |
possibly damaging |
Het |
Acot11 |
A |
G |
4: 106,615,578 (GRCm39) |
F271S |
probably damaging |
Het |
Acr |
T |
A |
15: 89,454,217 (GRCm39) |
Y185N |
probably damaging |
Het |
Adcy10 |
C |
T |
1: 165,365,949 (GRCm39) |
R489C |
probably damaging |
Het |
Arsb |
A |
G |
13: 93,930,670 (GRCm39) |
T213A |
probably benign |
Het |
Atg2a |
T |
A |
19: 6,291,858 (GRCm39) |
C11* |
probably null |
Het |
B3galt6 |
A |
T |
4: 156,076,152 (GRCm39) |
Y308N |
probably damaging |
Het |
Cd226 |
A |
G |
18: 89,225,451 (GRCm39) |
N116S |
probably benign |
Het |
Crat |
T |
A |
2: 30,297,146 (GRCm39) |
D269V |
probably damaging |
Het |
Crim1 |
T |
A |
17: 78,623,083 (GRCm39) |
I427N |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,790,298 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,407,776 (GRCm39) |
V374E |
probably damaging |
Het |
Dtl |
A |
G |
1: 191,273,352 (GRCm39) |
S519P |
probably benign |
Het |
Fastkd1 |
C |
T |
2: 69,532,945 (GRCm39) |
R474H |
probably benign |
Het |
Fbxo10 |
T |
C |
4: 45,058,361 (GRCm39) |
T459A |
possibly damaging |
Het |
Frmd4b |
A |
G |
6: 97,272,770 (GRCm39) |
L828P |
probably damaging |
Het |
Gc |
T |
C |
5: 89,593,255 (GRCm39) |
S55G |
probably benign |
Het |
Gm6455 |
T |
G |
5: 10,917,257 (GRCm39) |
|
noncoding transcript |
Het |
Gnai2 |
T |
C |
9: 107,493,393 (GRCm39) |
T280A |
probably benign |
Het |
Hmgn2 |
A |
G |
4: 133,693,260 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
G |
T |
10: 67,062,161 (GRCm39) |
A1505S |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 102,982,142 (GRCm39) |
K1393E |
probably benign |
Het |
Mrpl47 |
A |
G |
3: 32,790,789 (GRCm39) |
|
probably null |
Het |
Mslnl |
C |
T |
17: 25,966,972 (GRCm39) |
A659V |
possibly damaging |
Het |
Nlrp1a |
A |
G |
11: 71,013,456 (GRCm39) |
V598A |
probably benign |
Het |
Npff |
A |
T |
15: 102,433,000 (GRCm39) |
L15Q |
probably null |
Het |
Obsl1 |
G |
T |
1: 75,481,890 (GRCm39) |
Q327K |
probably damaging |
Het |
Or13a18 |
T |
C |
7: 140,190,844 (GRCm39) |
V255A |
probably damaging |
Het |
Or4c58 |
T |
A |
2: 89,675,315 (GRCm39) |
M1L |
probably benign |
Het |
Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
Or7e165 |
A |
T |
9: 19,694,711 (GRCm39) |
Y94F |
probably benign |
Het |
Or8b50 |
G |
A |
9: 38,518,417 (GRCm39) |
G219S |
possibly damaging |
Het |
Pdzd2 |
T |
A |
15: 12,375,851 (GRCm39) |
H1428L |
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,627,203 (GRCm39) |
E414G |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,106,617 (GRCm39) |
D3251G |
probably benign |
Het |
Secisbp2l |
G |
T |
2: 125,582,789 (GRCm39) |
S889* |
probably null |
Het |
Setx |
T |
A |
2: 29,023,942 (GRCm39) |
C133S |
probably damaging |
Het |
Slc22a29 |
A |
C |
19: 8,184,649 (GRCm39) |
S214A |
probably benign |
Het |
Slc30a5 |
A |
C |
13: 100,950,232 (GRCm39) |
L285R |
probably damaging |
Het |
Taar7a |
T |
G |
10: 23,868,500 (GRCm39) |
I294L |
probably benign |
Het |
Tfap2b |
T |
A |
1: 19,304,485 (GRCm39) |
F414I |
probably damaging |
Het |
Trpc4ap |
A |
T |
2: 155,512,989 (GRCm39) |
Y129N |
possibly damaging |
Het |
Vmn2r94 |
T |
C |
17: 18,473,523 (GRCm39) |
E501G |
probably benign |
Het |
Xpot |
T |
C |
10: 121,439,070 (GRCm39) |
H709R |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,682,004 (GRCm39) |
|
probably benign |
Het |
Zscan22 |
T |
G |
7: 12,640,426 (GRCm39) |
H223Q |
probably benign |
Het |
|
Other mutations in Mcam |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02671:Mcam
|
APN |
9 |
44,048,331 (GRCm39) |
splice site |
probably benign |
|
IGL02682:Mcam
|
APN |
9 |
44,051,714 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL03384:Mcam
|
APN |
9 |
44,051,809 (GRCm39) |
unclassified |
probably benign |
|
R0238:Mcam
|
UTSW |
9 |
44,051,502 (GRCm39) |
splice site |
probably null |
|
R0238:Mcam
|
UTSW |
9 |
44,051,502 (GRCm39) |
splice site |
probably null |
|
R0320:Mcam
|
UTSW |
9 |
44,051,483 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1432:Mcam
|
UTSW |
9 |
44,052,588 (GRCm39) |
missense |
probably damaging |
0.98 |
R1485:Mcam
|
UTSW |
9 |
44,048,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R1503:Mcam
|
UTSW |
9 |
44,052,588 (GRCm39) |
missense |
probably damaging |
0.98 |
R1730:Mcam
|
UTSW |
9 |
44,046,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Mcam
|
UTSW |
9 |
44,046,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R2146:Mcam
|
UTSW |
9 |
44,047,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R2150:Mcam
|
UTSW |
9 |
44,047,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R2215:Mcam
|
UTSW |
9 |
44,051,250 (GRCm39) |
nonsense |
probably null |
|
R4366:Mcam
|
UTSW |
9 |
44,045,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R4519:Mcam
|
UTSW |
9 |
44,052,640 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4948:Mcam
|
UTSW |
9 |
44,047,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R5965:Mcam
|
UTSW |
9 |
44,047,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R6704:Mcam
|
UTSW |
9 |
44,048,217 (GRCm39) |
missense |
probably benign |
0.06 |
R6955:Mcam
|
UTSW |
9 |
44,050,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R7273:Mcam
|
UTSW |
9 |
44,052,241 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7529:Mcam
|
UTSW |
9 |
44,050,192 (GRCm39) |
missense |
probably benign |
0.08 |
R7623:Mcam
|
UTSW |
9 |
44,050,955 (GRCm39) |
missense |
probably benign |
0.28 |
R7659:Mcam
|
UTSW |
9 |
44,048,067 (GRCm39) |
missense |
unknown |
|
R8066:Mcam
|
UTSW |
9 |
44,052,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R9113:Mcam
|
UTSW |
9 |
44,051,693 (GRCm39) |
missense |
probably benign |
0.04 |
R9184:Mcam
|
UTSW |
9 |
44,046,545 (GRCm39) |
intron |
probably benign |
|
R9278:Mcam
|
UTSW |
9 |
44,046,473 (GRCm39) |
intron |
probably benign |
|
Z1177:Mcam
|
UTSW |
9 |
44,045,887 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2015-04-16 |