Incidental Mutation 'R6704:Mcam'
| ID |
528860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcam
|
| Ensembl Gene |
ENSMUSG00000032135 |
| Gene Name |
melanoma cell adhesion molecule |
| Synonyms |
s-endo, 1-gicerin, s-gicerin, CD146, Muc18 |
| MMRRC Submission |
044822-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.589)
|
| Stock # |
R6704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44045946-44054024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44048217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 124
(D124E)
|
| 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
AA Change: D127E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000034650
Gene: ENSMUSG00000032135
AA Change: D127E
| 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: D127E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000096451
Gene: ENSMUSG00000032135
AA Change: D127E
| 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 |
noncoding transcript
Transcript: ENSMUST00000180670
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216002
AA Change: D124E
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
T |
C |
12: 8,060,379 (GRCm39) |
S2921P |
probably damaging |
Het |
| Asxl3 |
G |
A |
18: 22,650,362 (GRCm39) |
A784T |
probably benign |
Het |
| Atm |
T |
C |
9: 53,370,153 (GRCm39) |
I2320V |
probably benign |
Het |
| Ccdc152 |
T |
A |
15: 3,310,195 (GRCm39) |
I227F |
probably damaging |
Het |
| Cd109 |
T |
C |
9: 78,587,357 (GRCm39) |
V675A |
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,386,892 (GRCm39) |
Y235H |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,889,652 (GRCm39) |
D705G |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermn |
T |
C |
2: 57,938,046 (GRCm39) |
D189G |
possibly damaging |
Het |
| Evx2 |
C |
A |
2: 74,486,499 (GRCm39) |
A297S |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,477,410 (GRCm39) |
F2152S |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,990,642 (GRCm39) |
V1018A |
unknown |
Het |
| Hyou1 |
T |
C |
9: 44,292,431 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
G |
A |
14: 24,052,882 (GRCm39) |
Q187* |
probably null |
Het |
| Macf1 |
C |
T |
4: 123,304,555 (GRCm39) |
|
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,986,761 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
A |
T |
5: 135,166,094 (GRCm39) |
|
probably null |
Het |
| Myt1 |
A |
G |
2: 181,453,005 (GRCm39) |
M1V |
probably null |
Het |
| Nlrc3 |
C |
T |
16: 3,782,945 (GRCm39) |
V155I |
probably damaging |
Het |
| Nlrp2 |
A |
C |
7: 5,328,040 (GRCm39) |
L671* |
probably null |
Het |
| Omd |
A |
G |
13: 49,743,349 (GRCm39) |
D133G |
probably damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,225 (GRCm39) |
R292G |
probably damaging |
Het |
| Or9r7 |
T |
A |
10: 129,962,024 (GRCm39) |
K301* |
probably null |
Het |
| Pappa |
G |
A |
4: 65,123,161 (GRCm39) |
C832Y |
probably damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,736,515 (GRCm39) |
V174E |
possibly damaging |
Het |
| Pfkl |
C |
T |
10: 77,832,200 (GRCm39) |
G297D |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,511,910 (GRCm39) |
L882P |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,627,931 (GRCm39) |
T131A |
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,589,745 (GRCm39) |
N152S |
probably damaging |
Het |
| Ruvbl1 |
T |
A |
6: 88,456,187 (GRCm39) |
M147K |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,479,856 (GRCm39) |
I277N |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,545,255 (GRCm39) |
V337A |
probably damaging |
Het |
| Tmem131 |
A |
G |
1: 36,835,261 (GRCm39) |
V1620A |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,282,259 (GRCm39) |
E248G |
possibly damaging |
Het |
| Ugt2b36 |
C |
A |
5: 87,239,990 (GRCm39) |
V132F |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,621,035 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc2hc1c |
A |
T |
12: 85,337,258 (GRCm39) |
Q305L |
possibly damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTCAGATTCACAAGGAGAG -3'
(R):5'- ATTTGACCGAGTGCCTCTCAC -3'
Sequencing Primer
(F):5'- AGAGGCAGATACTGATTTTCCG -3'
(R):5'- GAGCTCTTGCCTGTCCACATG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation