Incidental Mutation 'R6733:Cfd'
| ID |
530148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfd
|
| Ensembl Gene |
ENSMUSG00000061780 |
| Gene Name |
complement factor D |
| Synonyms |
D component (adipsin) of complement, factor D, Adn, DF |
| MMRRC Submission |
044851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R6733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79726687-79728489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 79727636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 103
(H103Q)
|
| 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 damaging
Transcript: ENSMUST00000061653
AA Change: H104Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056836
Gene: ENSMUSG00000061780
AA Change: H104Q
| 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 damaging
Transcript: ENSMUST00000217837
AA Change: H103Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218521
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
| Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
| Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
| H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
| Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
| Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
| Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
| Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
| Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
| Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
| Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cfd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02049:Cfd
|
APN |
10 |
79,726,776 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTACATGGCTTCCGTGCAAG -3'
(R):5'- ATGTCTGAGTAGGGGCAGAGTC -3'
Sequencing Primer
(F):5'- ATGGCTTCCGTGCAAGTGAAC -3'
(R):5'- TCAAGAAAAGAGATCTGAAGCTGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation