Incidental Mutation 'R3030:Cd59a'
| ID |
264686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd59a
|
| Ensembl Gene |
ENSMUSG00000032679 |
| Gene Name |
CD59a antigen |
| Synonyms |
Cd59, protectin |
| MMRRC Submission |
040546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3030 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
103926146-103945699 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103941160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 46
(D46V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040423]
[ENSMUST00000168176]
|
| AlphaFold |
O55186 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040423
AA Change: D46V
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000048041
Gene: ENSMUSG00000032679
AA Change: D46V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
LU
|
24 |
107 |
2.53e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153312
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168176
AA Change: D46V
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000132774
Gene: ENSMUSG00000032679
AA Change: D46V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
LU
|
24 |
107 |
2.53e-25 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal complement pathway, abnormal response to injury, altered susceptibility to viral infection, and abnormal CD4+ T cell morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,477,682 (GRCm39) |
H1202Y |
possibly damaging |
Het |
| Acad8 |
G |
T |
9: 26,890,355 (GRCm39) |
H287N |
probably benign |
Het |
| Aimp2 |
T |
C |
5: 143,843,509 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,950 (GRCm39) |
S28P |
possibly damaging |
Het |
| Dytn |
T |
A |
1: 63,672,678 (GRCm39) |
E575V |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fbln2 |
G |
A |
6: 91,210,697 (GRCm39) |
E214K |
probably damaging |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,925,487 (GRCm39) |
C963* |
probably null |
Het |
| Hspb1 |
C |
T |
5: 135,918,267 (GRCm39) |
Q205* |
probably null |
Het |
| Itpkc |
G |
A |
7: 26,911,733 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
G |
T |
7: 139,481,123 (GRCm39) |
A70S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
G |
A |
7: 5,330,747 (GRCm39) |
R550C |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,591,184 (GRCm39) |
K199E |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,573,215 (GRCm39) |
M705V |
probably benign |
Het |
| Slc22a3 |
T |
C |
17: 12,676,521 (GRCm39) |
I291V |
probably benign |
Het |
| Smarca2 |
A |
C |
19: 26,729,429 (GRCm39) |
N100T |
possibly damaging |
Het |
| Tmem260 |
T |
C |
14: 48,722,458 (GRCm39) |
F331S |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,598 (GRCm39) |
Q2445R |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,062 (GRCm39) |
S235P |
probably benign |
Het |
| Vdr |
T |
C |
15: 97,755,444 (GRCm39) |
T360A |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,402 (GRCm39) |
S236P |
probably damaging |
Het |
|
| Other mutations in Cd59a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00709:Cd59a
|
APN |
2 |
103,944,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02319:Cd59a
|
APN |
2 |
103,944,373 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4445:Cd59a
|
UTSW |
2 |
103,941,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4834:Cd59a
|
UTSW |
2 |
103,944,431 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5887:Cd59a
|
UTSW |
2 |
103,934,546 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6261:Cd59a
|
UTSW |
2 |
103,934,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6328:Cd59a
|
UTSW |
2 |
103,941,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Cd59a
|
UTSW |
2 |
103,934,543 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAAGCTGACCTGGACCTG -3'
(R):5'- ATGATTGCCCCACGGTTATG -3'
Sequencing Primer
(F):5'- GACCTGTGCTCATCCTGATGG -3'
(R):5'- GTATATAGAAAATGCTTAGTGCCCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation