Incidental Mutation 'IGL02086:Cd55b'
ID |
285460 |
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 # |
IGL02086
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
130316274-130350746 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 130345919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 166
(D166E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113352
(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: D166E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000108107 Gene: ENSMUSG00000026401 AA Change: D166E
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
AA Change: D166E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000113352 Gene: ENSMUSG00000026401 AA Change: D166E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136497
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143266
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930426L09Rik |
T |
C |
2: 19,003,623 (GRCm39) |
|
probably benign |
Het |
Abi3bp |
A |
G |
16: 56,462,930 (GRCm39) |
|
probably benign |
Het |
Asb4 |
T |
C |
6: 5,398,386 (GRCm39) |
I117T |
probably benign |
Het |
Birc6 |
T |
G |
17: 74,946,822 (GRCm39) |
L2847R |
probably damaging |
Het |
C2cd2 |
A |
G |
16: 97,691,208 (GRCm39) |
|
probably benign |
Het |
Ccdc77 |
C |
A |
6: 120,316,119 (GRCm39) |
C186F |
possibly damaging |
Het |
Cd300ld2 |
T |
A |
11: 114,903,384 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
A |
G |
6: 90,390,954 (GRCm39) |
F8L |
probably damaging |
Het |
Col2a1 |
C |
T |
15: 97,884,618 (GRCm39) |
|
probably null |
Het |
Dbf4 |
A |
G |
5: 8,453,189 (GRCm39) |
I270T |
probably benign |
Het |
Dkk3 |
T |
C |
7: 111,748,236 (GRCm39) |
S123G |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,824,809 (GRCm39) |
|
probably benign |
Het |
Fam184a |
A |
G |
10: 53,575,351 (GRCm39) |
I30T |
probably damaging |
Het |
Fam20a |
T |
C |
11: 109,564,239 (GRCm39) |
I505V |
probably benign |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Fcho1 |
T |
C |
8: 72,169,444 (GRCm39) |
E154G |
probably damaging |
Het |
Klhdc1 |
A |
G |
12: 69,329,958 (GRCm39) |
I362M |
probably benign |
Het |
Knl1 |
A |
T |
2: 118,931,255 (GRCm39) |
E1990D |
probably benign |
Het |
Lancl2 |
A |
G |
6: 57,711,024 (GRCm39) |
Y394C |
probably damaging |
Het |
Lgi2 |
G |
A |
5: 52,723,299 (GRCm39) |
S50F |
probably damaging |
Het |
Map2k7 |
A |
G |
8: 4,288,950 (GRCm39) |
E14G |
probably damaging |
Het |
Mga |
A |
G |
2: 119,754,517 (GRCm39) |
I1009V |
probably damaging |
Het |
Nat9 |
C |
A |
11: 115,074,234 (GRCm39) |
|
probably null |
Het |
Nek2 |
G |
A |
1: 191,563,401 (GRCm39) |
A422T |
probably benign |
Het |
Nfkbiz |
A |
T |
16: 55,636,034 (GRCm39) |
L509Q |
probably damaging |
Het |
Or56b2 |
A |
T |
7: 104,337,634 (GRCm39) |
R137S |
probably benign |
Het |
Pgap1 |
T |
A |
1: 54,587,147 (GRCm39) |
Q143L |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,392,217 (GRCm39) |
T1937I |
probably damaging |
Het |
Pou1f1 |
A |
G |
16: 65,326,784 (GRCm39) |
E128G |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 44,989,996 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,434,046 (GRCm39) |
I566V |
probably benign |
Het |
Psd2 |
A |
G |
18: 36,138,959 (GRCm39) |
R528G |
probably damaging |
Het |
Ptprg |
G |
T |
14: 12,110,080 (GRCm38) |
E263* |
probably null |
Het |
Radil |
T |
C |
5: 142,529,576 (GRCm39) |
D40G |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,750,442 (GRCm39) |
Y1943F |
probably damaging |
Het |
Slc30a4 |
C |
T |
2: 122,543,947 (GRCm39) |
|
probably benign |
Het |
Slc31a1 |
A |
T |
4: 62,306,241 (GRCm39) |
T120S |
possibly damaging |
Het |
Snrpe |
A |
G |
1: 133,537,487 (GRCm39) |
|
probably benign |
Het |
Stx3 |
G |
T |
19: 11,796,046 (GRCm39) |
|
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,666,867 (GRCm39) |
E463G |
possibly damaging |
Het |
Ufsp1 |
T |
A |
5: 137,293,178 (GRCm39) |
C43S |
probably damaging |
Het |
Vac14 |
T |
A |
8: 111,379,950 (GRCm39) |
M416K |
possibly damaging |
Het |
Vmn1r81 |
A |
C |
7: 11,993,792 (GRCm39) |
V272G |
possibly damaging |
Het |
Vmn2r107 |
T |
A |
17: 20,578,062 (GRCm39) |
I457K |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,995,433 (GRCm39) |
Y405C |
probably damaging |
Het |
Zcchc17 |
T |
C |
4: 130,210,440 (GRCm39) |
*242W |
probably null |
Het |
Zfp503 |
T |
C |
14: 22,037,354 (GRCm39) |
K83R |
possibly damaging |
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 |
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 |
IGL03212:Cd55b
|
APN |
1 |
130,339,179 (GRCm39) |
missense |
probably benign |
0.15 |
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 |
2015-04-16 |