Incidental Mutation 'I1329:Cercam'
ID |
26479 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cercam
|
Ensembl Gene |
ENSMUSG00000039787 |
Gene Name |
cerebral endothelial cell adhesion molecule |
Synonyms |
CerCAM, Ceecam1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
I1329 (G1)
of strain
toku
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
2 |
Chromosomal Location |
29759176-29772852 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29761097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 132
(V132E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115902
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047521]
[ENSMUST00000134152]
[ENSMUST00000154464]
|
AlphaFold |
A3KGW5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047521
AA Change: V84E
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000041622 Gene: ENSMUSG00000039787 AA Change: V84E
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: ENSMUST00000047607
|
SMART Domains |
Protein: ENSMUSP00000047152 Gene: ENSMUSG00000039798
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134152
AA Change: V132E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115902 Gene: ENSMUSG00000039787 AA Change: V132E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153863
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154464
AA Change: V49E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119476 Gene: ENSMUSG00000039787 AA Change: V49E
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
28 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4034 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 95.2%
|
Validation Efficiency |
89% (42/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
T |
C |
2: 26,863,631 (GRCm39) |
I28T |
possibly damaging |
Het |
Agbl4 |
T |
A |
4: 110,335,652 (GRCm39) |
|
probably benign |
Het |
Aspscr1 |
G |
C |
11: 120,592,066 (GRCm39) |
V268L |
probably damaging |
Het |
Btbd10 |
A |
G |
7: 112,932,082 (GRCm39) |
S115P |
probably benign |
Het |
Decr1 |
G |
A |
4: 15,930,976 (GRCm39) |
R119* |
probably null |
Het |
Dlst |
T |
C |
12: 85,170,615 (GRCm39) |
M248T |
probably damaging |
Het |
Erbb3 |
T |
C |
10: 128,419,323 (GRCm39) |
N215S |
possibly damaging |
Het |
Flnc |
G |
A |
6: 29,451,414 (GRCm39) |
V1543M |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,944,619 (GRCm39) |
S542P |
probably benign |
Het |
Gk5 |
GCC |
GC |
9: 96,022,682 (GRCm39) |
|
probably null |
Het |
Glrb |
T |
A |
3: 80,769,381 (GRCm39) |
R115S |
probably damaging |
Het |
Gm5592 |
T |
A |
7: 40,935,778 (GRCm39) |
Y93* |
probably null |
Het |
Gpr20 |
C |
T |
15: 73,567,612 (GRCm39) |
R259H |
probably damaging |
Het |
Il1rap |
A |
G |
16: 26,511,600 (GRCm39) |
T215A |
probably benign |
Het |
Ipmk |
T |
C |
10: 71,217,277 (GRCm39) |
C275R |
possibly damaging |
Het |
Lats1 |
A |
G |
10: 7,588,566 (GRCm39) |
N1061S |
probably benign |
Het |
Nkain3 |
A |
G |
4: 20,158,329 (GRCm39) |
|
probably benign |
Het |
Nr1h4 |
A |
G |
10: 89,319,224 (GRCm39) |
|
probably benign |
Het |
Nr4a3 |
A |
G |
4: 48,051,585 (GRCm39) |
Q142R |
probably benign |
Het |
Otog |
G |
A |
7: 45,895,927 (GRCm39) |
V131I |
probably benign |
Het |
Parp12 |
A |
T |
6: 39,064,505 (GRCm39) |
M627K |
probably damaging |
Het |
Pcdh9 |
A |
G |
14: 94,123,645 (GRCm39) |
S842P |
probably benign |
Het |
Phc2 |
G |
C |
4: 128,604,906 (GRCm39) |
G214A |
probably damaging |
Het |
Prpf40a |
C |
A |
2: 53,066,407 (GRCm39) |
V92L |
probably benign |
Het |
Qser1 |
A |
T |
2: 104,617,322 (GRCm39) |
Y1163* |
probably null |
Het |
Rpe65 |
A |
G |
3: 159,330,360 (GRCm39) |
D509G |
probably benign |
Het |
Scin |
T |
A |
12: 40,123,329 (GRCm39) |
N518I |
probably damaging |
Het |
Sfswap |
G |
T |
5: 129,584,201 (GRCm39) |
|
probably benign |
Het |
Tfpi |
A |
T |
2: 84,274,460 (GRCm39) |
N182K |
possibly damaging |
Het |
Tph1 |
A |
G |
7: 46,299,437 (GRCm39) |
L368P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,571,916 (GRCm39) |
T26326A |
possibly damaging |
Het |
Ubr1 |
G |
A |
2: 120,764,775 (GRCm39) |
|
probably benign |
Het |
Usf3 |
G |
T |
16: 44,040,893 (GRCm39) |
C1791F |
probably damaging |
Het |
Vmn1r16 |
T |
G |
6: 57,300,519 (GRCm39) |
R34S |
probably damaging |
Het |
Ylpm1 |
C |
A |
12: 85,087,654 (GRCm39) |
P1604Q |
probably damaging |
Het |
Zc3h12a |
A |
G |
4: 125,013,157 (GRCm39) |
V569A |
possibly damaging |
Het |
Zmynd8 |
A |
G |
2: 165,670,145 (GRCm39) |
F488S |
probably 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 |
|
P0042:Cercam
|
UTSW |
2 |
29,771,095 (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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGTGGCAGGTGCAATCTTTAAGCTC -3'
(R):5'- TTACCAGGATGTAGTCAGCTCCCC -3'
Sequencing Primer
(F):5'- aggggcttgcttgatgtg -3'
(R):5'- AAAGGCCAGTGCTTCCTG -3'
|
Posted On |
2013-04-16 |