Incidental Mutation 'IGL02671:Mcam'
| ID |
302940 |
| 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 # |
IGL02671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44045946-44054024 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 44048331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034650]
[ENSMUST00000098852]
[ENSMUST00000147836]
[ENSMUST00000149241]
[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 |
unknown
Transcript: ENSMUST00000147836
AA Change: C107R
|
| SMART Domains |
Protein: ENSMUSP00000117924
Gene: ENSMUSG00000032135
AA Change: C107R
| 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 |
noncoding transcript
Transcript: ENSMUST00000180670
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
A |
10: 43,050,887 (GRCm39) |
H60Q |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Angpt1 |
C |
T |
15: 42,539,790 (GRCm39) |
R23H |
possibly damaging |
Het |
| Cadps |
T |
A |
14: 12,491,824 (GRCm38) |
E775D |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,889,387 (GRCm39) |
M211K |
probably benign |
Het |
| Cfap410 |
A |
T |
10: 77,816,384 (GRCm39) |
|
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,445,245 (GRCm39) |
M77V |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,912 (GRCm39) |
|
probably null |
Het |
| Eef1d |
A |
G |
15: 75,767,654 (GRCm39) |
I240T |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,876,475 (GRCm39) |
F2403I |
possibly damaging |
Het |
| Ighv1-47 |
C |
T |
12: 114,955,018 (GRCm39) |
V21I |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,459 (GRCm39) |
L1159P |
probably damaging |
Het |
| Kif12 |
T |
C |
4: 63,088,694 (GRCm39) |
E202G |
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,015,372 (GRCm39) |
D315G |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,208,510 (GRCm39) |
D1778E |
probably damaging |
Het |
| Numbl |
C |
T |
7: 26,964,327 (GRCm39) |
R46W |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,257 (GRCm39) |
Y252F |
probably damaging |
Het |
| Or6d13 |
C |
T |
6: 116,518,104 (GRCm39) |
T230I |
possibly damaging |
Het |
| Pde3b |
T |
C |
7: 114,122,580 (GRCm39) |
V716A |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,597,672 (GRCm39) |
Y771* |
probably null |
Het |
| Pramel5 |
A |
G |
4: 143,999,682 (GRCm39) |
V135A |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,336,302 (GRCm39) |
|
probably null |
Het |
| Taf2 |
C |
T |
15: 54,897,572 (GRCm39) |
V919I |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 72,016,999 (GRCm39) |
T36M |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,598,149 (GRCm39) |
D45V |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,855,791 (GRCm39) |
T508A |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,089,181 (GRCm39) |
E569K |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,937,719 (GRCm39) |
C875R |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,042,144 (GRCm39) |
N2208S |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 9,997,196 (GRCm39) |
V436A |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,296,437 (GRCm39) |
R1197* |
probably null |
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 |
|
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 |
Incidental Mutation