Incidental Mutation 'R9590:Cfi'
| ID |
722955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfi
|
| Ensembl Gene |
ENSMUSG00000058952 |
| Gene Name |
complement component factor i |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9590 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
129630432-129668978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129642461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 105
(H105L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077918]
[ENSMUST00000200206]
|
| AlphaFold |
Q61129 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077918
AA Change: H105L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: H105L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
FIMAC
|
45 |
111 |
4.63e-38 |
SMART |
|
KAZAL
|
63 |
109 |
6.91e-3 |
SMART |
|
SR
|
117 |
220 |
2.95e-22 |
SMART |
|
LDLa
|
225 |
262 |
1.07e-4 |
SMART |
|
LDLa
|
263 |
300 |
7.16e-6 |
SMART |
|
low complexity region
|
317 |
326 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
360 |
589 |
3.33e-71 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200206
AA Change: H105L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000142975
Gene: ENSMUSG00000058952
AA Change: H105L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
FIMAC
|
45 |
111 |
2.2e-40 |
SMART |
|
KAZAL
|
63 |
109 |
4.4e-5 |
SMART |
|
Blast:SR
|
117 |
145 |
3e-11 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a serine protease that plays an important role in the classical and alternative complement pathways where it cleaves C4b and C3b components of C3 and C5 convertases. The encoded preproprotein undergoes proteolytic processing to generate an active, disulfide-linked heterodimeric enzyme comprised of heavy and light chains. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice display uncontrolled alternative pathway activation as shown by reduced complement C3, factor B, and factor H levels, but do not develop C3 deposition along the glomerular basement membrane or membranoproliferative glomerulonephritistype II. Plasma C3 circulates as C3b. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,876,506 (GRCm39) |
T1087A |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,208,923 (GRCm39) |
T347A |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,865,693 (GRCm39) |
L69* |
probably null |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| C130073F10Rik |
G |
A |
4: 101,747,618 (GRCm39) |
T137I |
probably benign |
Het |
| C9orf72 |
C |
T |
4: 35,218,557 (GRCm39) |
G101R |
|
Het |
| Cacna1a |
C |
T |
8: 85,328,610 (GRCm39) |
Q1683* |
probably null |
Het |
| Calml4 |
A |
G |
9: 62,782,810 (GRCm39) |
Y139C |
probably benign |
Het |
| Cd33 |
T |
A |
7: 43,179,637 (GRCm39) |
I264F |
probably benign |
Het |
| Cnr1 |
G |
T |
4: 33,944,849 (GRCm39) |
M412I |
probably benign |
Het |
| Cyp2j11 |
T |
A |
4: 96,195,614 (GRCm39) |
M361L |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,290,323 (GRCm39) |
V216D |
probably benign |
Het |
| Eif1 |
C |
T |
11: 100,210,867 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
G |
A |
11: 120,269,545 (GRCm39) |
|
probably benign |
Het |
| Fkbp10 |
A |
T |
11: 100,306,785 (GRCm39) |
Q59L |
probably damaging |
Het |
| Galnt13 |
G |
T |
2: 54,747,973 (GRCm39) |
V285F |
probably benign |
Het |
| Gm32742 |
A |
G |
9: 51,050,461 (GRCm39) |
F1510S |
possibly damaging |
Het |
| Klhl33 |
T |
G |
14: 51,130,042 (GRCm39) |
D224A |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,784,060 (GRCm39) |
F607S |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,592,977 (GRCm39) |
N686S |
possibly damaging |
Het |
| Mlip |
A |
G |
9: 77,045,834 (GRCm39) |
M882T |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,790,834 (GRCm39) |
M74K |
probably benign |
Het |
| Nek10 |
C |
A |
14: 14,853,888 (GRCm38) |
S358Y |
probably damaging |
Het |
| Or51a7 |
T |
C |
7: 102,614,553 (GRCm39) |
L82P |
probably benign |
Het |
| Or5b12b |
T |
C |
19: 12,861,980 (GRCm39) |
V245A |
probably benign |
Het |
| Or8g29-ps1 |
A |
T |
9: 39,201,076 (GRCm39) |
C37S |
unknown |
Het |
| Padi1 |
T |
C |
4: 140,544,552 (GRCm39) |
D547G |
probably damaging |
Het |
| Pcbp4 |
T |
C |
9: 106,340,400 (GRCm39) |
S332P |
possibly damaging |
Het |
| Pde2a |
A |
G |
7: 101,160,757 (GRCm39) |
I909V |
probably benign |
Het |
| Ppil6 |
T |
C |
10: 41,366,478 (GRCm39) |
M1T |
probably null |
Het |
| Proser2 |
A |
G |
2: 6,105,794 (GRCm39) |
S257P |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,328 (GRCm39) |
F1797L |
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,512,727 (GRCm39) |
L360P |
probably damaging |
Het |
| Tab1 |
A |
T |
15: 80,040,097 (GRCm39) |
N306Y |
probably damaging |
Het |
| Tob2 |
A |
C |
15: 81,735,068 (GRCm39) |
F300L |
possibly damaging |
Het |
|
| Other mutations in Cfi |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Cfi
|
APN |
3 |
129,666,744 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00659:Cfi
|
APN |
3 |
129,630,462 (GRCm39) |
missense |
unknown |
|
|
IGL01310:Cfi
|
APN |
3 |
129,652,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01387:Cfi
|
APN |
3 |
129,668,562 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01897:Cfi
|
APN |
3 |
129,652,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02418:Cfi
|
APN |
3 |
129,642,461 (GRCm39) |
missense |
probably benign |
0.20 |
|
F5770:Cfi
|
UTSW |
3 |
129,648,641 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0085:Cfi
|
UTSW |
3 |
129,668,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0102:Cfi
|
UTSW |
3 |
129,642,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0102:Cfi
|
UTSW |
3 |
129,642,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0835:Cfi
|
UTSW |
3 |
129,662,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1191:Cfi
|
UTSW |
3 |
129,662,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1221:Cfi
|
UTSW |
3 |
129,666,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1576:Cfi
|
UTSW |
3 |
129,666,699 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1809:Cfi
|
UTSW |
3 |
129,666,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1940:Cfi
|
UTSW |
3 |
129,652,477 (GRCm39) |
splice site |
probably benign |
|
|
R1983:Cfi
|
UTSW |
3 |
129,662,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Cfi
|
UTSW |
3 |
129,652,453 (GRCm39) |
splice site |
probably null |
|
|
R3012:Cfi
|
UTSW |
3 |
129,668,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4334:Cfi
|
UTSW |
3 |
129,644,478 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4596:Cfi
|
UTSW |
3 |
129,662,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4888:Cfi
|
UTSW |
3 |
129,666,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Cfi
|
UTSW |
3 |
129,666,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Cfi
|
UTSW |
3 |
129,666,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5673:Cfi
|
UTSW |
3 |
129,648,658 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6084:Cfi
|
UTSW |
3 |
129,652,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6364:Cfi
|
UTSW |
3 |
129,666,495 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6770:Cfi
|
UTSW |
3 |
129,652,379 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7000:Cfi
|
UTSW |
3 |
129,666,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Cfi
|
UTSW |
3 |
129,668,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Cfi
|
UTSW |
3 |
129,648,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Cfi
|
UTSW |
3 |
129,668,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7470:Cfi
|
UTSW |
3 |
129,648,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7538:Cfi
|
UTSW |
3 |
129,652,464 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7908:Cfi
|
UTSW |
3 |
129,642,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7954:Cfi
|
UTSW |
3 |
129,662,234 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8017:Cfi
|
UTSW |
3 |
129,648,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8135:Cfi
|
UTSW |
3 |
129,648,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8155:Cfi
|
UTSW |
3 |
129,648,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8217:Cfi
|
UTSW |
3 |
129,648,650 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8530:Cfi
|
UTSW |
3 |
129,644,382 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8767:Cfi
|
UTSW |
3 |
129,644,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9578:Cfi
|
UTSW |
3 |
129,659,024 (GRCm39) |
missense |
probably benign |
|
|
R9774:Cfi
|
UTSW |
3 |
129,668,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7580:Cfi
|
UTSW |
3 |
129,648,641 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCGATCAGAAATGCTTACTGC -3'
(R):5'- TTGAGATCAGGACAGAATTTCCAAC -3'
Sequencing Primer
(F):5'- GCATCGCTCCTGTAACAAGGTC -3'
(R):5'- CCAACAATTTCTGAAACGGTCTAGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation