Incidental Mutation 'R0829:Cercam'
ID |
78418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cercam
|
Ensembl Gene |
ENSMUSG00000039787 |
Gene Name |
cerebral endothelial cell adhesion molecule |
Synonyms |
CerCAM, Ceecam1 |
MMRRC Submission |
039009-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0829 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
29759176-29772852 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 29761079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 126
(R126L)
|
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: R78L
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000041622 Gene: ENSMUSG00000039787 AA Change: R78L
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: R126L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115902 Gene: ENSMUSG00000039787 AA Change: R126L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153863
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154464
AA Change: R43L
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000119476 Gene: ENSMUSG00000039787 AA Change: R43L
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
28 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
Validation Efficiency |
95% (37/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprh |
C |
A |
16: 38,266,150 (GRCm39) |
A331S |
probably benign |
Het |
Atp4b |
T |
G |
8: 13,440,098 (GRCm39) |
T83P |
probably damaging |
Het |
Ccdc177 |
T |
C |
12: 80,806,253 (GRCm39) |
E7G |
probably damaging |
Het |
Cpb1 |
C |
T |
3: 20,306,107 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,543,238 (GRCm39) |
M2311V |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,896,002 (GRCm39) |
V2458L |
probably benign |
Het |
Dnajb6 |
T |
C |
5: 29,990,020 (GRCm39) |
|
probably benign |
Het |
Dst |
A |
G |
1: 34,202,301 (GRCm39) |
T210A |
probably damaging |
Het |
Gfpt1 |
T |
C |
6: 87,030,847 (GRCm39) |
|
probably benign |
Het |
Grin1 |
C |
T |
2: 25,188,460 (GRCm39) |
D429N |
probably benign |
Het |
Iqck |
T |
C |
7: 118,499,111 (GRCm39) |
|
probably null |
Het |
Itgb5 |
A |
G |
16: 33,764,571 (GRCm39) |
I359V |
probably benign |
Het |
Lemd3 |
T |
C |
10: 120,814,988 (GRCm39) |
T82A |
probably benign |
Het |
Lrrc74b |
A |
G |
16: 17,376,254 (GRCm39) |
|
probably benign |
Het |
Mitf |
A |
T |
6: 97,980,869 (GRCm39) |
I246F |
possibly damaging |
Het |
Msgn1 |
C |
T |
12: 11,258,525 (GRCm39) |
R142Q |
probably damaging |
Het |
Myh8 |
C |
A |
11: 67,174,326 (GRCm39) |
|
probably benign |
Het |
Nacad |
C |
A |
11: 6,551,158 (GRCm39) |
V678L |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,725,596 (GRCm39) |
|
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or1s2 |
T |
A |
19: 13,758,556 (GRCm39) |
D191E |
probably damaging |
Het |
Or4c100 |
A |
T |
2: 88,356,572 (GRCm39) |
Y215F |
probably damaging |
Het |
Or4l15 |
C |
A |
14: 50,198,503 (GRCm39) |
V9L |
probably benign |
Het |
Or6d13 |
A |
G |
6: 116,518,226 (GRCm39) |
T271A |
probably benign |
Het |
Pcdh15 |
T |
A |
10: 74,338,598 (GRCm39) |
V1068E |
probably damaging |
Het |
Plat |
A |
G |
8: 23,262,273 (GRCm39) |
Y99C |
probably damaging |
Het |
Potefam1 |
G |
A |
2: 111,028,450 (GRCm39) |
T42I |
possibly damaging |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rbm25 |
T |
C |
12: 83,707,150 (GRCm39) |
|
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,316,570 (GRCm39) |
D998G |
probably damaging |
Het |
Serpinb6a |
A |
G |
13: 34,119,684 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
C |
15: 9,687,899 (GRCm39) |
I507M |
probably benign |
Het |
Srebf2 |
T |
A |
15: 82,061,790 (GRCm39) |
|
probably null |
Het |
Stimate |
C |
T |
14: 30,584,842 (GRCm39) |
R56C |
probably damaging |
Het |
Tert |
T |
C |
13: 73,792,504 (GRCm39) |
C924R |
probably damaging |
Het |
Usp19 |
T |
C |
9: 108,371,000 (GRCm39) |
S221P |
probably benign |
Het |
Xkr4 |
C |
T |
1: 3,741,469 (GRCm39) |
A35T |
possibly damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
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 |
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 |
2013-10-16 |