Incidental Mutation 'P0042:Cercam'
| ID |
7818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cercam
|
| Ensembl Gene |
ENSMUSG00000039787 |
| Gene Name |
cerebral endothelial cell adhesion molecule |
| Synonyms |
CerCAM, Ceecam1 |
| MMRRC Submission |
038290-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
P0042 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29759176-29772852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29771095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 497
(D497E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047521]
|
| AlphaFold |
A3KGW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047521
AA Change: D497E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041622
Gene: ENSMUSG00000039787
AA Change: D497E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_4
|
37 |
157 |
2.6e-15 |
PFAM |
|
Pfam:Glyco_transf_25
|
316 |
500 |
3.2e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155355
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 81.5%
- 3x: 74.4%
- 10x: 52.2%
- 20x: 29.5%
|
| Validation Efficiency |
88% (87/99) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr3 |
A |
G |
1: 90,142,600 (GRCm39) |
E353G |
probably damaging |
Het |
| Eif5a |
A |
T |
11: 69,808,728 (GRCm39) |
|
probably benign |
Het |
| Htr4 |
T |
A |
18: 62,546,748 (GRCm39) |
D100E |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,418,799 (GRCm39) |
K1172E |
probably benign |
Het |
| Inpp5b |
G |
A |
4: 124,691,703 (GRCm39) |
|
probably null |
Het |
| Klc2 |
A |
G |
19: 5,163,805 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,225,817 (GRCm39) |
L332M |
probably benign |
Het |
| Naca |
T |
C |
10: 127,877,422 (GRCm39) |
|
probably benign |
Het |
| Oat |
A |
G |
7: 132,164,374 (GRCm39) |
V238A |
possibly damaging |
Het |
| Rabep1 |
A |
G |
11: 70,775,801 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,157,541 (GRCm39) |
D529G |
probably damaging |
Het |
| Urod |
T |
A |
4: 116,850,143 (GRCm39) |
L23F |
probably damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,727 (GRCm39) |
T1066I |
possibly damaging |
Het |
|
| Other mutations in Cercam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01885:Cercam
|
APN |
2 |
29,771,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02619:Cercam
|
APN |
2 |
29,770,686 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03088:Cercam
|
APN |
2 |
29,771,699 (GRCm39) |
splice site |
probably benign |
|
|
I1329:Cercam
|
UTSW |
2 |
29,761,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0086:Cercam
|
UTSW |
2 |
29,761,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0829:Cercam
|
UTSW |
2 |
29,761,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1442:Cercam
|
UTSW |
2 |
29,770,652 (GRCm39) |
missense |
probably benign |
|
|
R1558:Cercam
|
UTSW |
2 |
29,766,251 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1997:Cercam
|
UTSW |
2 |
29,762,935 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4678:Cercam
|
UTSW |
2 |
29,759,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Cercam
|
UTSW |
2 |
29,771,845 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4891:Cercam
|
UTSW |
2 |
29,759,283 (GRCm39) |
unclassified |
probably benign |
|
|
R4967:Cercam
|
UTSW |
2 |
29,761,033 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5052:Cercam
|
UTSW |
2 |
29,765,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Cercam
|
UTSW |
2 |
29,765,641 (GRCm39) |
missense |
probably benign |
|
|
R5650:Cercam
|
UTSW |
2 |
29,771,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Cercam
|
UTSW |
2 |
29,771,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7422:Cercam
|
UTSW |
2 |
29,762,892 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7585:Cercam
|
UTSW |
2 |
29,771,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7725:Cercam
|
UTSW |
2 |
29,762,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7730:Cercam
|
UTSW |
2 |
29,762,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7747:Cercam
|
UTSW |
2 |
29,761,298 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8504:Cercam
|
UTSW |
2 |
29,771,829 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9010:Cercam
|
UTSW |
2 |
29,766,071 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9185:Cercam
|
UTSW |
2 |
29,766,033 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
RF016:Cercam
|
UTSW |
2 |
29,759,317 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-10-29 |
Incidental Mutation