Incidental Mutation 'IGL02049:Cfd'
| ID |
185028 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfd
|
| Ensembl Gene |
ENSMUSG00000061780 |
| Gene Name |
complement factor D |
| Synonyms |
D component (adipsin) of complement, factor D, Adn, DF |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL02049
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79726687-79728489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79726776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 6
(Y6C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046091]
[ENSMUST00000061653]
[ENSMUST00000105378]
[ENSMUST00000165684]
[ENSMUST00000217837]
|
| AlphaFold |
P03953 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046091
|
| SMART Domains |
Protein: ENSMUSP00000038925
Gene: ENSMUSG00000020125
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
28 |
242 |
3.74e-74 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061653
AA Change: Y6C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000056836
Gene: ENSMUSG00000061780
AA Change: Y6C
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
25 |
249 |
8.25e-76 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105378
|
| SMART Domains |
Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
WD40
|
94 |
133 |
1.05e-7 |
SMART |
|
Blast:WD40
|
143 |
169 |
4e-8 |
BLAST |
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
WD40
|
226 |
267 |
1.53e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165684
|
| SMART Domains |
Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
|
WD40
|
95 |
134 |
1.05e-7 |
SMART |
|
Blast:WD40
|
144 |
170 |
4e-8 |
BLAST |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
WD40
|
227 |
268 |
1.53e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217837
AA Change: Y6C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218521
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a serine protease that plays an important role in the alternative pathway of complement activation for pathogen recognition and elimination. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme that in turn cleaves factor B in the complement pathway. This gene is expressed in adipocytes and the mature enzyme is secreted into the bloodstream. Mice lacking the encoded product cannot initiate alternative pathway of complement activation. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele show impaired complement activation by alternative pathway activators, and increased susceptibility to pneumococcal infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,254,801 (GRCm39) |
R27S |
probably benign |
Het |
| 4930596D02Rik |
C |
A |
14: 35,533,535 (GRCm39) |
V78L |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,595,704 (GRCm39) |
C352* |
probably null |
Het |
| Acat3 |
T |
A |
17: 13,144,207 (GRCm39) |
Y324F |
probably benign |
Het |
| Adamts8 |
T |
C |
9: 30,862,650 (GRCm39) |
V285A |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,484,929 (GRCm39) |
I652T |
probably damaging |
Het |
| Arhgef6 |
T |
A |
X: 56,321,271 (GRCm39) |
Q320L |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,094,860 (GRCm39) |
I60K |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,854,642 (GRCm39) |
V145A |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,580,880 (GRCm39) |
T1674A |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,301,519 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,183,113 (GRCm39) |
K157R |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,864,870 (GRCm39) |
R786S |
possibly damaging |
Het |
| Dna2 |
A |
T |
10: 62,792,815 (GRCm39) |
I277L |
probably damaging |
Het |
| Gm5168 |
A |
T |
X: 25,999,005 (GRCm39) |
D50E |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,455,049 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
A |
G |
6: 38,402,067 (GRCm39) |
T520A |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,811,913 (GRCm39) |
|
probably benign |
Het |
| Klk10 |
A |
T |
7: 43,433,882 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
G |
16: 22,892,187 (GRCm39) |
Y250C |
probably damaging |
Het |
| Las1l |
A |
T |
X: 94,981,059 (GRCm39) |
M690K |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,848,295 (GRCm39) |
M673K |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,654,070 (GRCm39) |
H1245R |
probably benign |
Het |
| Oprk1 |
C |
T |
1: 5,669,067 (GRCm39) |
T171I |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,801,782 (GRCm39) |
S149T |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,736,847 (GRCm39) |
N424S |
probably benign |
Het |
| Plec |
A |
T |
15: 76,063,149 (GRCm39) |
L2334Q |
probably damaging |
Het |
| Pus7l |
G |
A |
15: 94,438,059 (GRCm39) |
S262F |
probably damaging |
Het |
| Rps24 |
C |
A |
14: 24,541,823 (GRCm39) |
D3E |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,557,799 (GRCm39) |
N560D |
probably damaging |
Het |
| Sema3c |
C |
T |
5: 17,926,923 (GRCm39) |
|
probably benign |
Het |
| Slc47a2 |
A |
G |
11: 61,233,365 (GRCm39) |
F55S |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,047,309 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
A |
T |
18: 14,963,196 (GRCm39) |
E645D |
probably benign |
Het |
| Tmem161a |
T |
A |
8: 70,631,624 (GRCm39) |
V158E |
probably damaging |
Het |
| Trav13-2 |
A |
G |
14: 53,872,604 (GRCm39) |
S27G |
possibly damaging |
Het |
| Trav13-2 |
G |
T |
14: 53,872,603 (GRCm39) |
Q26H |
probably damaging |
Het |
| Trav13-2 |
A |
T |
14: 53,872,602 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,608 (GRCm39) |
H305L |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,562,482 (GRCm39) |
I82V |
probably damaging |
Het |
|
| Other mutations in Cfd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0325:Cfd
|
UTSW |
10 |
79,727,592 (GRCm39) |
nonsense |
probably null |
|
|
R1376:Cfd
|
UTSW |
10 |
79,727,986 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1376:Cfd
|
UTSW |
10 |
79,727,986 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1708:Cfd
|
UTSW |
10 |
79,727,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2221:Cfd
|
UTSW |
10 |
79,728,039 (GRCm39) |
splice site |
probably null |
|
|
R2223:Cfd
|
UTSW |
10 |
79,728,039 (GRCm39) |
splice site |
probably null |
|
|
R4823:Cfd
|
UTSW |
10 |
79,726,782 (GRCm39) |
missense |
probably benign |
|
|
R5388:Cfd
|
UTSW |
10 |
79,727,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6687:Cfd
|
UTSW |
10 |
79,727,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6733:Cfd
|
UTSW |
10 |
79,727,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Cfd
|
UTSW |
10 |
79,728,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7123:Cfd
|
UTSW |
10 |
79,728,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Cfd
|
UTSW |
10 |
79,727,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7669:Cfd
|
UTSW |
10 |
79,727,447 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9440:Cfd
|
UTSW |
10 |
79,726,816 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation