Incidental Mutation 'IGL03138:Fcna'
| ID |
453065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcna
|
| Ensembl Gene |
ENSMUSG00000026938 |
| Gene Name |
ficolin A |
| Synonyms |
Fcn1, ficolin A |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03138 (G1)
|
| Quality Score |
52 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25514678-25518042 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to C
at 25520693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028307]
|
| AlphaFold |
O70165 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028307
|
| SMART Domains |
Protein: ENSMUSP00000028307
Gene: ENSMUSG00000026938
| 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 |
noncoding transcript
Transcript: ENSMUST00000127642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163217
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Casd1 |
A |
G |
6: 4,613,236 (GRCm39) |
H118R |
probably damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
T |
C |
13: 93,201,850 (GRCm39) |
K3371E |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dpysl3 |
T |
C |
18: 43,458,859 (GRCm39) |
T632A |
probably benign |
Het |
| Elapor1 |
T |
A |
3: 108,379,309 (GRCm39) |
N392Y |
probably benign |
Het |
| Fbh1 |
T |
C |
2: 11,754,320 (GRCm39) |
|
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,325,951 (GRCm39) |
|
probably benign |
Het |
| Gm4876 |
T |
G |
6: 17,171,736 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin-ps6 |
G |
T |
7: 106,023,650 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Inhba |
T |
A |
13: 16,192,099 (GRCm39) |
D73E |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,519,791 (GRCm39) |
N1717D |
possibly damaging |
Het |
| Knl1 |
G |
T |
2: 118,902,840 (GRCm39) |
V1514F |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,562,334 (GRCm39) |
A2459T |
unknown |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Pias2 |
T |
C |
18: 77,237,796 (GRCm39) |
|
probably null |
Het |
| Polr1b |
T |
C |
2: 128,944,908 (GRCm39) |
F68S |
probably benign |
Het |
| Skic8 |
T |
C |
9: 54,635,447 (GRCm39) |
|
probably benign |
Het |
| Slamf1 |
C |
A |
1: 171,604,652 (GRCm39) |
Q141K |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Tpo |
T |
C |
12: 30,124,170 (GRCm39) |
T877A |
probably benign |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Vmn1r37 |
A |
G |
6: 66,709,172 (GRCm39) |
K229R |
possibly damaging |
Het |
| Wdr17 |
T |
C |
8: 55,102,178 (GRCm39) |
D947G |
probably damaging |
Het |
| Wiz |
G |
T |
17: 32,578,093 (GRCm39) |
T473K |
probably damaging |
Het |
| Zmynd12 |
A |
G |
4: 119,280,186 (GRCm39) |
Y35C |
probably 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 |
|
|
R0318:Fcna
|
UTSW |
2 |
25,515,071 (GRCm39) |
missense |
probably benign |
|
|
R0455:Fcna
|
UTSW |
2 |
25,515,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGTTTCTGCTCACATTGTCAATTA -3'
(R):5'- GAGGAAATGTATATAAGAACACCCC -3'
Sequencing Primer
(F):5'- GGCTGTCCCAGAACTACCTATGTAG -3'
(R):5'- AGGTAGATCCCTGACCTCGATG -3'
|
| Posted On |
2017-01-27 |
Incidental Mutation