Incidental Mutation 'IGL03212:Cd55b'
| ID |
413323 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd55b
|
| Ensembl Gene |
ENSMUSG00000026401 |
| Gene Name |
CD55 molecule, decay accelerating factor for complement B |
| Synonyms |
Daf2, TM-DAF, complement-transmembrane, Daf-TM |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03212
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
130316274-130350746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130339179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 316
(N316K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112488]
[ENSMUST00000119432]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112488
AA Change: N316K
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108107
Gene: ENSMUSG00000026401
AA Change: N316K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
CCP
|
34 |
92 |
2.21e-12 |
SMART |
|
CCP
|
96 |
156 |
1.47e-8 |
SMART |
|
CCP
|
161 |
218 |
1.56e-12 |
SMART |
|
CCP
|
223 |
282 |
2.19e-16 |
SMART |
|
low complexity region
|
287 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119432
|
| SMART Domains |
Protein: ENSMUSP00000113352
Gene: ENSMUSG00000026401
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
CCP
|
34 |
92 |
2.21e-12 |
SMART |
|
CCP
|
96 |
156 |
1.47e-8 |
SMART |
|
CCP
|
161 |
218 |
1.56e-12 |
SMART |
|
transmembrane domain
|
247 |
269 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an inhibitor of both the classical and the alternative pathways of complement activation. This gene is located adjacent to a closely related gene on chromosome 1 and preferentially expressed in the spleen and testis. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,242,085 (GRCm39) |
S657P |
probably benign |
Het |
| Atp2c1 |
T |
A |
9: 105,322,466 (GRCm39) |
N221I |
probably damaging |
Het |
| Atp5pd |
G |
T |
11: 115,306,597 (GRCm39) |
H155N |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,814,878 (GRCm39) |
M1861K |
probably benign |
Het |
| Cfap69 |
T |
G |
5: 5,707,849 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,803,520 (GRCm39) |
P2169Q |
unknown |
Het |
| Cyp2j5 |
G |
T |
4: 96,552,055 (GRCm39) |
H65N |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,290,309 (GRCm39) |
V1233A |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,680,484 (GRCm39) |
L407* |
probably null |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,121 (GRCm39) |
D340G |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glmp |
T |
C |
3: 88,235,664 (GRCm39) |
S317P |
probably benign |
Het |
| Gm5581 |
A |
T |
6: 131,158,413 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5624 |
A |
T |
14: 44,798,167 (GRCm39) |
N103K |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,332,013 (GRCm39) |
F98S |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,329,942 (GRCm39) |
V104A |
probably damaging |
Het |
| Igkv4-79 |
A |
C |
6: 69,020,214 (GRCm39) |
S34A |
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,235,586 (GRCm39) |
P1532S |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,877,819 (GRCm39) |
K490R |
unknown |
Het |
| Or5d46 |
T |
A |
2: 88,170,016 (GRCm39) |
Y36N |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,826,132 (GRCm39) |
Q287L |
probably benign |
Het |
| Plxna1 |
T |
A |
6: 89,308,885 (GRCm39) |
T1198S |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,340,769 (GRCm39) |
D367G |
probably damaging |
Het |
| Rbm28 |
G |
T |
6: 29,131,274 (GRCm39) |
R10S |
probably damaging |
Het |
| Rdh10 |
T |
G |
1: 16,178,051 (GRCm39) |
C108G |
probably benign |
Het |
| Rfx7 |
C |
A |
9: 72,526,443 (GRCm39) |
T1211K |
probably benign |
Het |
| Slc24a5 |
C |
A |
2: 124,922,750 (GRCm39) |
T141N |
probably damaging |
Het |
| Smarca5 |
T |
A |
8: 81,438,410 (GRCm39) |
N642I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,750,886 (GRCm39) |
R344L |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,556,642 (GRCm39) |
I355N |
probably damaging |
Het |
| Tram1l1 |
G |
A |
3: 124,115,563 (GRCm39) |
G241D |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,074 (GRCm39) |
T982A |
probably benign |
Het |
| Vmn2r52 |
T |
G |
7: 9,893,474 (GRCm39) |
H555P |
possibly damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,344,286 (GRCm39) |
M313K |
probably benign |
Het |
| Zfp942 |
A |
T |
17: 22,148,445 (GRCm39) |
Y61* |
probably null |
Het |
|
| Other mutations in Cd55b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Cd55b
|
APN |
1 |
130,350,643 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02086:Cd55b
|
APN |
1 |
130,345,919 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02629:Cd55b
|
APN |
1 |
130,347,535 (GRCm39) |
splice site |
probably benign |
|
|
IGL02735:Cd55b
|
APN |
1 |
130,316,413 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0827:Cd55b
|
UTSW |
1 |
130,341,973 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0961:Cd55b
|
UTSW |
1 |
130,341,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1381:Cd55b
|
UTSW |
1 |
130,347,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Cd55b
|
UTSW |
1 |
130,316,392 (GRCm39) |
nonsense |
probably null |
|
|
R1839:Cd55b
|
UTSW |
1 |
130,341,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Cd55b
|
UTSW |
1 |
130,345,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2359:Cd55b
|
UTSW |
1 |
130,345,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Cd55b
|
UTSW |
1 |
130,337,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Cd55b
|
UTSW |
1 |
130,344,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6276:Cd55b
|
UTSW |
1 |
130,345,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Cd55b
|
UTSW |
1 |
130,341,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6977:Cd55b
|
UTSW |
1 |
130,347,528 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7026:Cd55b
|
UTSW |
1 |
130,316,427 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7528:Cd55b
|
UTSW |
1 |
130,347,473 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7726:Cd55b
|
UTSW |
1 |
130,339,230 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8215:Cd55b
|
UTSW |
1 |
130,347,337 (GRCm39) |
frame shift |
probably null |
|
|
R8217:Cd55b
|
UTSW |
1 |
130,347,337 (GRCm39) |
frame shift |
probably null |
|
|
R8260:Cd55b
|
UTSW |
1 |
130,316,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8353:Cd55b
|
UTSW |
1 |
130,341,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8467:Cd55b
|
UTSW |
1 |
130,347,501 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8960:Cd55b
|
UTSW |
1 |
130,338,375 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9227:Cd55b
|
UTSW |
1 |
130,350,619 (GRCm39) |
nonsense |
probably null |
|
|
R9230:Cd55b
|
UTSW |
1 |
130,350,619 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation