Incidental Mutation 'R2935:Cd55'
| ID |
254987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd55
|
| Ensembl Gene |
ENSMUSG00000026399 |
| Gene Name |
CD55 molecule, decay accelerating factor for complement |
| Synonyms |
Daf-GPI, GPI-DAF, Cromer blood group, Daf1, complement-glycosylphosphatidylinositol |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
130366764-130390481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130380163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 272
(S272P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027650]
|
| AlphaFold |
Q61475 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027650
AA Change: S272P
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027650
Gene: ENSMUSG00000026399
AA Change: S272P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
|
CCP
|
36 |
94 |
2.21e-12 |
SMART |
|
CCP
|
98 |
158 |
3.56e-7 |
SMART |
|
CCP
|
163 |
220 |
6.34e-13 |
SMART |
|
CCP
|
225 |
284 |
1.28e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122830
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140725
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an inhibitor of both the classical and the alternative pathways of complement activation. The encoded preproprotein undergoes post-translational processing to generate a mature polypeptide anchored to the plasma membrane via a glycosylphosphatidylinositol moiety. Erythrocytes from mice deficient in the encoded protein exhibit impaired regulation of complement activation resulting in enhanced complement deposition. Mice lacking the encoded protein exhibit enhanced susceptibility to experimentally induced myasthenia gravis. This gene is located adjacent to a closely related gene on chromosome 1. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutant mice show increased susceptibility to injury following ethanol exposure, to experimental autoimmune myasthenia gravis and to acute nephrotoxic nephritis. Another allele results in an abnormal complement cascade leading to increased C3 deposition. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,661,189 (GRCm39) |
I894T |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 111,015,886 (GRCm39) |
V467A |
probably damaging |
Het |
| Cyp11a1 |
A |
G |
9: 57,923,673 (GRCm39) |
Y126C |
probably damaging |
Het |
| Ddx39a |
T |
A |
8: 84,447,587 (GRCm39) |
V144D |
possibly damaging |
Het |
| Fbxl19 |
G |
A |
7: 127,351,432 (GRCm39) |
R304H |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,302,706 (GRCm39) |
F135L |
unknown |
Het |
| Khdc3 |
T |
C |
9: 73,010,987 (GRCm39) |
V255A |
possibly damaging |
Het |
| Klk1b22 |
A |
G |
7: 43,764,146 (GRCm39) |
I25V |
probably benign |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Mark2 |
T |
C |
19: 7,263,254 (GRCm39) |
N204S |
probably benign |
Het |
| Or1l4b |
A |
G |
2: 37,037,123 (GRCm39) |
K300E |
possibly damaging |
Het |
| Or4c123 |
A |
T |
2: 89,127,604 (GRCm39) |
N3K |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,279,914 (GRCm39) |
I219T |
probably damaging |
Het |
| Rap1gap |
T |
C |
4: 137,452,042 (GRCm39) |
S521P |
probably benign |
Het |
| Rxrb |
CGCGGCGGCGGCGGCGGCGGC |
CGCGGCGGCGGCGGCGGC |
17: 34,251,106 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,718,900 (GRCm39) |
P823L |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 52,971,104 (GRCm39) |
D8G |
probably damaging |
Het |
| Stau1 |
G |
A |
2: 166,797,037 (GRCm39) |
T120I |
probably benign |
Het |
| Stxbp5l |
G |
T |
16: 36,954,551 (GRCm39) |
H920N |
possibly damaging |
Het |
| Thsd7b |
A |
G |
1: 129,605,824 (GRCm39) |
T522A |
possibly damaging |
Het |
|
| Other mutations in Cd55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Cd55
|
APN |
1 |
130,380,248 (GRCm39) |
nonsense |
probably null |
|
|
IGL02207:Cd55
|
APN |
1 |
130,380,156 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02724:Cd55
|
APN |
1 |
130,377,149 (GRCm39) |
splice site |
probably benign |
|
|
IGL02933:Cd55
|
APN |
1 |
130,380,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02955:Cd55
|
APN |
1 |
130,377,219 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03198:Cd55
|
APN |
1 |
130,368,108 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4618001:Cd55
|
UTSW |
1 |
130,384,606 (GRCm39) |
missense |
probably benign |
|
|
R0055:Cd55
|
UTSW |
1 |
130,387,313 (GRCm39) |
splice site |
probably benign |
|
|
R0411:Cd55
|
UTSW |
1 |
130,390,294 (GRCm39) |
splice site |
probably benign |
|
|
R0426:Cd55
|
UTSW |
1 |
130,376,109 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1488:Cd55
|
UTSW |
1 |
130,376,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1728:Cd55
|
UTSW |
1 |
130,387,370 (GRCm39) |
missense |
probably benign |
|
|
R1728:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1729:Cd55
|
UTSW |
1 |
130,387,370 (GRCm39) |
missense |
probably benign |
|
|
R1729:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1730:Cd55
|
UTSW |
1 |
130,387,370 (GRCm39) |
missense |
probably benign |
|
|
R1730:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1739:Cd55
|
UTSW |
1 |
130,387,370 (GRCm39) |
missense |
probably benign |
|
|
R1739:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1762:Cd55
|
UTSW |
1 |
130,387,370 (GRCm39) |
missense |
probably benign |
|
|
R1762:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1783:Cd55
|
UTSW |
1 |
130,387,370 (GRCm39) |
missense |
probably benign |
|
|
R1783:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1784:Cd55
|
UTSW |
1 |
130,387,370 (GRCm39) |
missense |
probably benign |
|
|
R1784:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1785:Cd55
|
UTSW |
1 |
130,387,370 (GRCm39) |
missense |
probably benign |
|
|
R1785:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1835:Cd55
|
UTSW |
1 |
130,375,346 (GRCm39) |
splice site |
probably benign |
|
|
R2049:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2122:Cd55
|
UTSW |
1 |
130,387,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2141:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2142:Cd55
|
UTSW |
1 |
130,377,160 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4326:Cd55
|
UTSW |
1 |
130,380,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Cd55
|
UTSW |
1 |
130,380,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Cd55
|
UTSW |
1 |
130,375,104 (GRCm39) |
intron |
probably benign |
|
|
R4329:Cd55
|
UTSW |
1 |
130,380,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5051:Cd55
|
UTSW |
1 |
130,376,085 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6467:Cd55
|
UTSW |
1 |
130,375,348 (GRCm39) |
splice site |
probably benign |
|
|
R7219:Cd55
|
UTSW |
1 |
130,390,343 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8010:Cd55
|
UTSW |
1 |
130,387,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8695:Cd55
|
UTSW |
1 |
130,380,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8882:Cd55
|
UTSW |
1 |
130,387,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9369:Cd55
|
UTSW |
1 |
130,375,187 (GRCm39) |
nonsense |
probably null |
|
|
R9411:Cd55
|
UTSW |
1 |
130,368,114 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Cd55
|
UTSW |
1 |
130,380,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCTCAGAGAGTACATGGTG -3'
(R):5'- GCTGAGCTCAGAAAGATGATTG -3'
Sequencing Primer
(F):5'- CCTCCTGAGTACTGGGATTAAAGGC -3'
(R):5'- GAGGGGAAAGTGACTCTT -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation