Incidental Mutation 'R6687:Cfd'
| ID |
527832 |
| 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 |
044805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R6687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79726687-79728489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79727553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 77
(V77M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056836
(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: V77M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056836
Gene: ENSMUSG00000061780
AA Change: V77M
| 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: V76M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218521
|
| Meta Mutation Damage Score |
0.2104 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (33/33) |
| 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 |
|---|
| Adgrl4 |
T |
C |
3: 151,248,392 (GRCm39) |
V688A |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,777,927 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,034,842 (GRCm39) |
F180S |
probably benign |
Het |
| Col5a2 |
A |
T |
1: 45,422,764 (GRCm39) |
L1151H |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,428,215 (GRCm39) |
V854M |
possibly damaging |
Het |
| Dlg5 |
C |
T |
14: 24,240,441 (GRCm39) |
R247Q |
probably damaging |
Het |
| Fam3c |
G |
C |
6: 22,328,669 (GRCm39) |
P53A |
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,574,619 (GRCm39) |
N302D |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,620,784 (GRCm39) |
V1142A |
probably benign |
Het |
| Ighv9-3 |
G |
A |
12: 114,104,544 (GRCm39) |
S40F |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,248,111 (GRCm39) |
R478H |
probably benign |
Het |
| Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,948,156 (GRCm39) |
D985G |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,027,645 (GRCm39) |
H729L |
probably damaging |
Het |
| Lrrc14b |
T |
C |
13: 74,508,881 (GRCm39) |
M509V |
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,284,798 (GRCm39) |
Y341C |
probably damaging |
Het |
| Mettl18 |
A |
G |
1: 163,824,369 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mup12 |
T |
C |
4: 60,697,308 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
C |
11: 75,563,027 (GRCm39) |
S1020P |
probably benign |
Het |
| Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,756,175 (GRCm39) |
I823T |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rpap2 |
T |
C |
5: 107,751,496 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
C |
11: 114,559,594 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,872,508 (GRCm39) |
F516L |
probably benign |
Het |
| Slc51a |
A |
T |
16: 32,298,543 (GRCm39) |
D71E |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,045,076 (GRCm39) |
E470G |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 100,000,266 (GRCm39) |
H1811N |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,996,753 (GRCm39) |
C1150Y |
probably damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Wdr83 |
C |
T |
8: 85,806,778 (GRCm39) |
V101I |
probably benign |
Het |
| Wnt3 |
G |
T |
11: 103,703,411 (GRCm39) |
R298L |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACATGGCTTCCGTGCAAGTG -3'
(R):5'- ATGTCTGAGTAGGGGCAGAGTC -3'
Sequencing Primer
(F):5'- TGAACGGCACACACGTG -3'
(R):5'- GTGGCGGACAGGGATTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation