Incidental Mutation 'IGL03384:Mcam'
| ID |
420823 |
| 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 # |
IGL03384
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44045946-44054024 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 44051809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034650]
[ENSMUST00000098852]
[ENSMUST00000147836]
[ENSMUST00000149241]
[ENSMUST00000206147]
[ENSMUST00000206720]
[ENSMUST00000216002]
|
| AlphaFold |
Q8R2Y2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034650
|
| SMART Domains |
Protein: ENSMUSP00000034650
Gene: ENSMUSG00000032135
| 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
|
| SMART Domains |
Protein: ENSMUSP00000096451
Gene: ENSMUSG00000032135
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
G |
11: 72,086,673 (GRCm39) |
I246T |
possibly damaging |
Het |
| Ablim2 |
C |
T |
5: 36,032,216 (GRCm39) |
R614C |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,757,102 (GRCm39) |
L265P |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,462,159 (GRCm39) |
C1072Y |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,197,950 (GRCm39) |
V148A |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,573,514 (GRCm39) |
V2942M |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,177,673 (GRCm39) |
H442L |
probably benign |
Het |
| Haus6 |
T |
C |
4: 86,501,762 (GRCm39) |
H703R |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,751,368 (GRCm39) |
T1573A |
probably benign |
Het |
| Iftap |
G |
T |
2: 101,415,608 (GRCm39) |
T115N |
probably benign |
Het |
| Ighv1-31 |
A |
G |
12: 114,793,093 (GRCm39) |
F48L |
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,226,203 (GRCm39) |
A697D |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,872,228 (GRCm39) |
N94Y |
probably benign |
Het |
| Kank2 |
C |
T |
9: 21,685,874 (GRCm39) |
V667M |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,366,140 (GRCm39) |
I2099F |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,742,800 (GRCm39) |
I410V |
probably damaging |
Het |
| Nub1 |
A |
T |
5: 24,902,425 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
A |
T |
5: 24,902,424 (GRCm39) |
|
probably null |
Het |
| Or10g9b |
T |
C |
9: 39,917,766 (GRCm39) |
T160A |
probably benign |
Het |
| Panx2 |
C |
T |
15: 88,952,322 (GRCm39) |
A271V |
possibly damaging |
Het |
| Papss1 |
T |
A |
3: 131,285,113 (GRCm39) |
H13Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,784,871 (GRCm39) |
T438A |
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Ptchd4 |
T |
A |
17: 42,813,481 (GRCm39) |
C461S |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,990,853 (GRCm39) |
F985S |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,706,297 (GRCm39) |
I214T |
probably benign |
Het |
| Sgpp1 |
T |
C |
12: 75,762,880 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
A |
T |
19: 6,030,402 (GRCm39) |
C343* |
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,117,612 (GRCm39) |
I310V |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,309,350 (GRCm39) |
F287S |
probably damaging |
Het |
| Usp30 |
A |
G |
5: 114,259,635 (GRCm39) |
D447G |
probably damaging |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,136 (GRCm39) |
Y249F |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,405 (GRCm39) |
T665A |
probably damaging |
Het |
| Vps37b |
A |
G |
5: 124,145,670 (GRCm39) |
|
probably null |
Het |
| Wfdc1 |
T |
A |
8: 120,413,016 (GRCm39) |
N198K |
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 |
|
|
IGL02682:Mcam
|
APN |
9 |
44,051,714 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
2016-08-02 |
Incidental Mutation