Incidental Mutation 'R0455:Fcna'
| ID |
39943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcna
|
| Ensembl Gene |
ENSMUSG00000026938 |
| Gene Name |
ficolin A |
| Synonyms |
Fcn1, ficolin A |
| MMRRC Submission |
038655-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0455 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25514678-25518042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25515520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 183
(Y183C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028307]
[ENSMUST00000142087]
|
| AlphaFold |
O70165 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028307
AA Change: Y183C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028307
Gene: ENSMUSG00000026938
AA Change: Y183C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
48 |
108 |
2e-10 |
PFAM |
|
FBG
|
121 |
334 |
2.18e-110 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028308
|
| SMART Domains |
Protein: ENSMUSP00000028308
Gene: ENSMUSG00000026939
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM141
|
6 |
94 |
1.5e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142087
|
| SMART Domains |
Protein: ENSMUSP00000121862
Gene: ENSMUSG00000026939
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM141
|
2 |
97 |
1e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155684
|
| Meta Mutation Damage Score |
0.9469 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal collagen antibody-induced arthritis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,088,180 (GRCm39) |
G342D |
possibly damaging |
Het |
| Acvr2b |
C |
T |
9: 119,261,675 (GRCm39) |
R399W |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 77,982,832 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
A |
G |
1: 170,662,492 (GRCm39) |
V256A |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,656,454 (GRCm39) |
I732N |
probably damaging |
Het |
| C1qtnf9 |
A |
C |
14: 61,009,820 (GRCm39) |
Q25H |
probably damaging |
Het |
| Ccdc6 |
T |
A |
10: 69,978,401 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,127,887 (GRCm39) |
|
probably null |
Het |
| Chdh |
A |
G |
14: 29,756,603 (GRCm39) |
Y343C |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,421,262 (GRCm39) |
|
probably benign |
Het |
| Cts3 |
G |
A |
13: 61,716,024 (GRCm39) |
|
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,541,802 (GRCm39) |
D362E |
probably benign |
Het |
| Dsg1b |
T |
A |
18: 20,529,082 (GRCm39) |
S273T |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,117,649 (GRCm39) |
H1274L |
probably benign |
Het |
| Eva1c |
T |
C |
16: 90,672,986 (GRCm39) |
S187P |
probably benign |
Het |
| Fam13b |
G |
A |
18: 34,578,581 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,168,408 (GRCm39) |
G2310S |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,491,056 (GRCm39) |
T263A |
probably benign |
Het |
| Gm94 |
T |
C |
18: 43,914,309 (GRCm39) |
D83G |
possibly damaging |
Het |
| Gnal |
C |
T |
18: 67,268,720 (GRCm39) |
|
probably benign |
Het |
| Grb7 |
T |
G |
11: 98,343,014 (GRCm39) |
S244A |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,477 (GRCm39) |
T458A |
probably benign |
Het |
| Hdac2 |
C |
T |
10: 36,867,832 (GRCm39) |
R193C |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,573,638 (GRCm39) |
|
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,072 (GRCm39) |
R783G |
probably benign |
Het |
| Inpp5j |
G |
T |
11: 3,453,122 (GRCm39) |
L43I |
possibly damaging |
Het |
| Itga11 |
A |
T |
9: 62,604,243 (GRCm39) |
T44S |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,665,036 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
G |
T |
11: 69,297,822 (GRCm39) |
C233* |
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,025,700 (GRCm39) |
L1130P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,807,250 (GRCm39) |
F508L |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,916,425 (GRCm39) |
V814E |
probably benign |
Het |
| Megf10 |
C |
T |
18: 57,386,054 (GRCm39) |
P356S |
probably benign |
Het |
| Myorg |
G |
A |
4: 41,499,538 (GRCm39) |
R31* |
probably null |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nus1 |
T |
A |
10: 52,306,190 (GRCm39) |
V42E |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,359 (GRCm39) |
I128V |
possibly damaging |
Het |
| Or2a51 |
A |
C |
6: 43,179,006 (GRCm39) |
M143L |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,523,024 (GRCm39) |
N306S |
probably damaging |
Het |
| Pex13 |
T |
C |
11: 23,605,949 (GRCm39) |
S94G |
probably benign |
Het |
| Ppm1h |
G |
T |
10: 122,638,229 (GRCm39) |
Q166H |
probably benign |
Het |
| Ptafr |
A |
T |
4: 132,307,396 (GRCm39) |
Y262F |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,377,132 (GRCm39) |
D321E |
probably damaging |
Het |
| Samsn1 |
C |
T |
16: 75,742,113 (GRCm39) |
|
noncoding transcript |
Het |
| Scarb1 |
T |
C |
5: 125,366,745 (GRCm39) |
N63D |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,379,340 (GRCm39) |
I249T |
possibly damaging |
Het |
| Srpra |
A |
G |
9: 35,126,277 (GRCm39) |
K490R |
probably benign |
Het |
| Sycn |
A |
G |
7: 28,240,398 (GRCm39) |
N22D |
probably benign |
Het |
| Tarbp1 |
C |
T |
8: 127,167,612 (GRCm39) |
A1067T |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,405,131 (GRCm39) |
D681G |
possibly damaging |
Het |
| Usp34 |
C |
T |
11: 23,396,741 (GRCm39) |
|
probably benign |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,085 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,187,528 (GRCm39) |
M653K |
probably benign |
Het |
| Wrap73 |
T |
A |
4: 154,233,200 (GRCm39) |
S125T |
possibly damaging |
Het |
|
| Other mutations in Fcna |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01945:Fcna
|
APN |
2 |
25,517,847 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
IGL02479:Fcna
|
APN |
2 |
25,515,272 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02488:Fcna
|
APN |
2 |
25,515,223 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02984:Fcna
|
UTSW |
2 |
25,520,693 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02988:Fcna
|
UTSW |
2 |
25,520,693 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02991:Fcna
|
UTSW |
2 |
25,520,693 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03014:Fcna
|
UTSW |
2 |
25,520,693 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03046:Fcna
|
UTSW |
2 |
25,520,693 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03048:Fcna
|
UTSW |
2 |
25,520,693 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03052:Fcna
|
UTSW |
2 |
25,520,693 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03055:Fcna
|
UTSW |
2 |
25,520,693 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03138:Fcna
|
UTSW |
2 |
25,520,693 (GRCm39) |
unclassified |
probably benign |
|
|
R0318:Fcna
|
UTSW |
2 |
25,515,071 (GRCm39) |
missense |
probably benign |
|
|
R2212:Fcna
|
UTSW |
2 |
25,517,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3413:Fcna
|
UTSW |
2 |
25,517,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3414:Fcna
|
UTSW |
2 |
25,517,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Fcna
|
UTSW |
2 |
25,517,784 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4007:Fcna
|
UTSW |
2 |
25,516,018 (GRCm39) |
splice site |
probably null |
|
|
R4448:Fcna
|
UTSW |
2 |
25,515,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Fcna
|
UTSW |
2 |
25,515,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Fcna
|
UTSW |
2 |
25,515,353 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7255:Fcna
|
UTSW |
2 |
25,516,040 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7920:Fcna
|
UTSW |
2 |
25,516,298 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8386:Fcna
|
UTSW |
2 |
25,516,027 (GRCm39) |
nonsense |
probably null |
|
|
R8417:Fcna
|
UTSW |
2 |
25,514,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Fcna
|
UTSW |
2 |
25,516,145 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8832:Fcna
|
UTSW |
2 |
25,516,145 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9061:Fcna
|
UTSW |
2 |
25,514,956 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9339:Fcna
|
UTSW |
2 |
25,517,782 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTACTTGGCATAGGAGCCTTTC -3'
(R):5'- AGCCCTGGGCCACTATCATCTATC -3'
Sequencing Primer
(F):5'- ATAGGAGCCTTTCCCTTGGAAATC -3'
(R):5'- GGGCCACTATCATCTATCAGTTAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation