Incidental Mutation 'R4891:Cercam'
| ID |
377298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cercam
|
| Ensembl Gene |
ENSMUSG00000039787 |
| Gene Name |
cerebral endothelial cell adhesion molecule |
| Synonyms |
CerCAM, Ceecam1 |
| MMRRC Submission |
042496-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29759176-29772852 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 29759283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047521]
[ENSMUST00000134152]
[ENSMUST00000154464]
|
| AlphaFold |
A3KGW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047521
|
| SMART Domains |
Protein: ENSMUSP00000041622
Gene: ENSMUSG00000039787
| 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 benign
Transcript: ENSMUST00000134152
|
| SMART Domains |
Protein: ENSMUSP00000115902
Gene: ENSMUSG00000039787
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154464
AA Change: H3Q
|
| SMART Domains |
Protein: ENSMUSP00000119476
Gene: ENSMUSG00000039787
AA Change: H3Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
28 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,072 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Chst1 |
A |
G |
2: 92,444,337 (GRCm39) |
T270A |
possibly damaging |
Het |
| Cluh |
C |
T |
11: 74,555,885 (GRCm39) |
T816I |
possibly damaging |
Het |
| Edn3 |
A |
G |
2: 174,603,525 (GRCm39) |
H91R |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,069,409 (GRCm39) |
S487P |
probably benign |
Het |
| Galns |
T |
A |
8: 123,325,895 (GRCm39) |
D212V |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,475,570 (GRCm39) |
V582A |
possibly damaging |
Het |
| Hs3st4 |
T |
A |
7: 123,996,052 (GRCm39) |
N239K |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,276,186 (GRCm39) |
W1062* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,377,621 (GRCm39) |
N4110S |
probably damaging |
Het |
| Mag |
T |
C |
7: 30,599,793 (GRCm39) |
H582R |
possibly damaging |
Het |
| Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
| Ndufa5 |
A |
G |
6: 24,519,246 (GRCm39) |
V26A |
possibly damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Or13j1 |
C |
T |
4: 43,706,194 (GRCm39) |
A125T |
probably damaging |
Het |
| Or51g2 |
T |
A |
7: 102,622,759 (GRCm39) |
I147L |
probably benign |
Het |
| Or5ac24 |
T |
A |
16: 59,165,834 (GRCm39) |
T77S |
possibly damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,716,957 (GRCm39) |
H347R |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 117,196,985 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
C |
T |
1: 184,991,563 (GRCm39) |
A683V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,249,496 (GRCm39) |
V240A |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,685 (GRCm39) |
V325E |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
C |
T |
19: 4,788,497 (GRCm39) |
R1159C |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,415 (GRCm39) |
D14G |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,208,601 (GRCm39) |
K173R |
probably damaging |
Het |
| Themis2 |
G |
T |
4: 132,510,668 (GRCm39) |
Q625K |
probably benign |
Het |
| Vcpip1 |
G |
T |
1: 9,818,287 (GRCm39) |
P32Q |
unknown |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,081 (GRCm39) |
T109S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,640,661 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,526,345 (GRCm39) |
|
probably benign |
Het |
| Wiz |
A |
G |
17: 32,576,602 (GRCm39) |
S642P |
possibly damaging |
Het |
| Zdhhc1 |
C |
T |
8: 106,199,649 (GRCm39) |
R383Q |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,055 (GRCm39) |
S1194P |
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 |
|
|
I1329:Cercam
|
UTSW |
2 |
29,761,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGTGGAGTTACTGCCTCAGG -3'
(R):5'- TTTCCCACCACAGTAGGGAG -3'
Sequencing Primer
(F):5'- CTCAGGCCGCCAGAGGG -3'
(R):5'- CATGGAGGCGGGGTCTTAGAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation