Incidental Mutation 'R4366:Mcam'
| ID |
325756 |
| 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 |
041114-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.605)
|
| Stock # |
R4366 (G1)
|
| Quality Score |
116 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44045946-44054024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44045994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 3
(L3Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034650]
[ENSMUST00000098852]
[ENSMUST00000147836]
[ENSMUST00000149241]
[ENSMUST00000216002]
|
| AlphaFold |
Q8R2Y2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034650
AA Change: L3Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034650
Gene: ENSMUSG00000032135
AA Change: L3Q
| 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 damaging
Transcript: ENSMUST00000098852
AA Change: L3Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096451
Gene: ENSMUSG00000032135
AA Change: L3Q
| 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 |
unknown
Transcript: ENSMUST00000149241
AA Change: L3Q
|
| SMART Domains |
Protein: ENSMUSP00000121090
Gene: ENSMUSG00000032135
AA Change: L3Q
| 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 |
unknown
Transcript: ENSMUST00000216002
AA Change: L3Q
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
95% (57/60) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
A |
C |
17: 43,752,860 (GRCm39) |
T396P |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,066,083 (GRCm39) |
I4318F |
possibly damaging |
Het |
| Apol7c |
T |
G |
15: 77,410,589 (GRCm39) |
D119A |
probably benign |
Het |
| App |
G |
T |
16: 84,853,321 (GRCm39) |
D252E |
unknown |
Het |
| C4a |
T |
A |
17: 35,033,885 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1b |
T |
C |
2: 24,592,632 (GRCm39) |
Y515C |
probably damaging |
Het |
| Cacna1f |
G |
T |
X: 7,476,213 (GRCm39) |
A123S |
probably damaging |
Het |
| Cldn6 |
G |
C |
17: 23,900,494 (GRCm39) |
A153P |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,228,464 (GRCm39) |
N2208S |
probably benign |
Het |
| Csnk1g1 |
A |
G |
9: 65,927,135 (GRCm39) |
T101A |
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,811,049 (GRCm39) |
D544E |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,011,084 (GRCm39) |
C1080* |
probably null |
Het |
| Dst |
T |
C |
1: 34,290,959 (GRCm39) |
S3335P |
probably damaging |
Het |
| Efnb3 |
T |
C |
11: 69,446,771 (GRCm39) |
K313R |
probably damaging |
Het |
| Elf2 |
G |
A |
3: 51,215,570 (GRCm39) |
Q47* |
probably null |
Het |
| Epc2 |
A |
G |
2: 49,437,566 (GRCm39) |
K657E |
possibly damaging |
Het |
| Ephx4 |
A |
G |
5: 107,551,679 (GRCm39) |
|
probably benign |
Het |
| Ereg |
T |
C |
5: 91,234,659 (GRCm39) |
I24T |
probably benign |
Het |
| Evc2 |
C |
A |
5: 37,496,013 (GRCm39) |
A41D |
possibly damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,254,651 (GRCm39) |
V283A |
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,502,327 (GRCm39) |
T434A |
probably damaging |
Het |
| Gm572 |
A |
G |
4: 148,739,322 (GRCm39) |
D50G |
possibly damaging |
Het |
| Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
| Hivep3 |
A |
C |
4: 119,953,286 (GRCm39) |
H534P |
possibly damaging |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Ipo7 |
T |
C |
7: 109,628,919 (GRCm39) |
M63T |
possibly damaging |
Het |
| Ipo7 |
A |
T |
7: 109,647,423 (GRCm39) |
T614S |
possibly damaging |
Het |
| Krt87 |
T |
G |
15: 101,385,395 (GRCm39) |
M326L |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,162,978 (GRCm39) |
N261K |
probably damaging |
Het |
| Mcoln3 |
C |
A |
3: 145,846,247 (GRCm39) |
T519K |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mrgprx1 |
C |
A |
7: 47,670,941 (GRCm39) |
A269S |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,028,487 (GRCm39) |
E192G |
probably benign |
Het |
| Nup205 |
C |
A |
6: 35,168,962 (GRCm39) |
P397Q |
probably benign |
Het |
| Obsl1 |
A |
C |
1: 75,464,693 (GRCm39) |
L1576R |
possibly damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,168,937 (GRCm39) |
S817P |
probably benign |
Het |
| Or6c210 |
A |
T |
10: 129,496,400 (GRCm39) |
M242L |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,486 (GRCm39) |
H93L |
probably benign |
Het |
| Pcdhgb7 |
A |
G |
18: 37,887,125 (GRCm39) |
Y765C |
possibly damaging |
Het |
| Pde7a |
A |
G |
3: 19,365,026 (GRCm39) |
|
probably null |
Het |
| Phip |
C |
T |
9: 82,782,922 (GRCm39) |
|
probably benign |
Het |
| Rhbdl2 |
T |
A |
4: 123,703,728 (GRCm39) |
M1K |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Sf3a3 |
A |
G |
4: 124,618,932 (GRCm39) |
T298A |
probably benign |
Het |
| Slc25a29 |
C |
T |
12: 108,797,097 (GRCm39) |
|
probably benign |
Het |
| Spinkl |
T |
G |
18: 44,307,650 (GRCm39) |
T4P |
possibly damaging |
Het |
| Stk33 |
G |
A |
7: 108,879,002 (GRCm39) |
S449L |
probably benign |
Het |
| Suz12 |
T |
A |
11: 79,892,988 (GRCm39) |
|
probably benign |
Het |
| Timp2 |
T |
A |
11: 118,201,497 (GRCm39) |
I124F |
probably damaging |
Het |
| Tlr1 |
C |
T |
5: 65,083,180 (GRCm39) |
D466N |
probably benign |
Het |
| Tmem200b |
A |
G |
4: 131,649,781 (GRCm39) |
I234V |
possibly damaging |
Het |
| Ubr1 |
C |
A |
2: 120,801,084 (GRCm39) |
|
probably benign |
Het |
| Usp33 |
C |
A |
3: 152,074,149 (GRCm39) |
Q332K |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,156,416 (GRCm39) |
E634G |
probably 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCCAAGCCAGAAAACGG -3'
(R):5'- TGATCTCCGGTACACTCAGG -3'
Sequencing Primer
(F):5'- ACGGGAGTTAGCCTCTAGG -3'
(R):5'- TACACTCAGGCGGCACAGTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation