Incidental Mutation 'IGL02682:Mcam'
ID |
303394 |
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 # |
IGL02682
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
44045946-44054024 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44051714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 490
(V490A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096451
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034650]
[ENSMUST00000098852]
[ENSMUST00000147836]
[ENSMUST00000149241]
[ENSMUST00000206147]
[ENSMUST00000206720]
[ENSMUST00000216002]
|
AlphaFold |
Q8R2Y2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034650
AA Change: V490A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000034650 Gene: ENSMUSG00000032135 AA Change: V490A
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 |
possibly damaging
Transcript: ENSMUST00000098852
AA Change: V490A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000096451 Gene: ENSMUSG00000032135 AA Change: V490A
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
A |
G |
2: 58,367,823 (GRCm39) |
S113P |
probably benign |
Het |
Arhgdib |
A |
T |
6: 136,901,166 (GRCm39) |
W188R |
probably damaging |
Het |
Bcr |
T |
A |
10: 75,001,878 (GRCm39) |
N927K |
possibly damaging |
Het |
Cd209c |
A |
G |
8: 3,990,324 (GRCm39) |
Y165H |
probably damaging |
Het |
Cnnm2 |
A |
G |
19: 46,750,515 (GRCm39) |
K102E |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,606,623 (GRCm39) |
E600G |
probably damaging |
Het |
Ddx4 |
A |
T |
13: 112,758,720 (GRCm39) |
H280Q |
probably benign |
Het |
Eya4 |
T |
C |
10: 22,992,498 (GRCm39) |
Y462C |
probably damaging |
Het |
Fibcd1 |
T |
A |
2: 31,728,576 (GRCm39) |
I94F |
probably damaging |
Het |
Gm4846 |
C |
A |
1: 166,322,195 (GRCm39) |
G124V |
probably damaging |
Het |
Gm5624 |
A |
G |
14: 44,797,469 (GRCm39) |
I108T |
possibly damaging |
Het |
Gpr179 |
A |
T |
11: 97,242,691 (GRCm39) |
M51K |
probably benign |
Het |
Hck |
A |
G |
2: 152,976,054 (GRCm39) |
I198V |
probably damaging |
Het |
Kcnd2 |
T |
A |
6: 21,216,924 (GRCm39) |
C209* |
probably null |
Het |
Klhl1 |
T |
A |
14: 96,438,778 (GRCm39) |
I507F |
possibly damaging |
Het |
Knl1 |
A |
T |
2: 118,908,450 (GRCm39) |
K1693N |
possibly damaging |
Het |
Mrgprx1 |
A |
T |
7: 47,671,740 (GRCm39) |
D2E |
probably damaging |
Het |
Mtg1 |
T |
C |
7: 139,724,642 (GRCm39) |
|
probably benign |
Het |
Myof |
C |
A |
19: 37,909,929 (GRCm39) |
R1512L |
probably benign |
Het |
Nrp2 |
C |
T |
1: 62,810,996 (GRCm39) |
T679I |
probably benign |
Het |
Nwd2 |
C |
A |
5: 63,962,020 (GRCm39) |
L535I |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,962,021 (GRCm39) |
L535H |
probably damaging |
Het |
Or4f14b |
T |
A |
2: 111,775,285 (GRCm39) |
N172I |
probably damaging |
Het |
Or52j3 |
A |
T |
7: 102,836,221 (GRCm39) |
I138F |
probably damaging |
Het |
Or5b94 |
T |
C |
19: 12,652,033 (GRCm39) |
S155P |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,602,275 (GRCm39) |
*41W |
probably null |
Het |
Prl5a1 |
T |
A |
13: 28,329,403 (GRCm39) |
N27K |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,358,708 (GRCm39) |
T1292A |
probably damaging |
Het |
Rnf38 |
G |
A |
4: 44,133,745 (GRCm39) |
A376V |
probably damaging |
Het |
Slc34a2 |
T |
C |
5: 53,216,580 (GRCm39) |
V117A |
possibly damaging |
Het |
Slfn8 |
A |
T |
11: 82,894,517 (GRCm39) |
F707L |
probably damaging |
Het |
Snx16 |
G |
A |
3: 10,503,235 (GRCm39) |
P4L |
probably damaging |
Het |
Snx6 |
T |
C |
12: 54,801,130 (GRCm39) |
D289G |
probably damaging |
Het |
St8sia3 |
G |
T |
18: 64,402,750 (GRCm39) |
V130F |
probably damaging |
Het |
U2surp |
A |
G |
9: 95,363,704 (GRCm39) |
|
probably null |
Het |
Ubqln3 |
A |
G |
7: 103,791,272 (GRCm39) |
F273L |
probably benign |
Het |
Vmn2r101 |
A |
T |
17: 19,832,507 (GRCm39) |
R834S |
possibly damaging |
Het |
Vmn2r18 |
G |
T |
5: 151,508,102 (GRCm39) |
H341N |
probably damaging |
Het |
Vrk3 |
A |
G |
7: 44,403,244 (GRCm39) |
I2V |
probably benign |
Het |
Zglp1 |
A |
G |
9: 20,977,534 (GRCm39) |
S94P |
probably benign |
Het |
|
Other mutations in Mcam |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02408:Mcam
|
APN |
9 |
44,051,547 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02671:Mcam
|
APN |
9 |
44,048,331 (GRCm39) |
splice site |
probably benign |
|
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 |