Incidental Mutation 'IGL02488:Fcna'
ID |
295534 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02488
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25514678-25518042 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 25515223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028307]
[ENSMUST00000142087]
|
AlphaFold |
O70165 |
Predicted Effect |
probably null
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000142371
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163217
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155684
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150165
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
C |
T |
8: 25,282,022 (GRCm39) |
D417N |
probably damaging |
Het |
Akr1d1 |
A |
T |
6: 37,544,095 (GRCm39) |
E324D |
probably benign |
Het |
Ankrd34a |
A |
G |
3: 96,506,229 (GRCm39) |
I478V |
probably benign |
Het |
C8b |
A |
G |
4: 104,661,278 (GRCm39) |
H498R |
probably benign |
Het |
Cct6a |
T |
G |
5: 129,866,885 (GRCm39) |
|
probably benign |
Het |
Enpp7 |
C |
A |
11: 118,879,640 (GRCm39) |
T98N |
probably damaging |
Het |
Gtdc1 |
A |
G |
2: 44,715,451 (GRCm39) |
Y31H |
probably benign |
Het |
Gzme |
A |
T |
14: 56,355,849 (GRCm39) |
N154K |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,430,150 (GRCm39) |
V849A |
probably benign |
Het |
Hps1 |
C |
T |
19: 42,746,227 (GRCm39) |
|
probably benign |
Het |
Incenp |
A |
T |
19: 9,870,771 (GRCm39) |
I286N |
unknown |
Het |
Matn1 |
G |
T |
4: 130,671,804 (GRCm39) |
V24F |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,335,483 (GRCm39) |
T1302A |
probably damaging |
Het |
Megf10 |
A |
G |
18: 57,425,704 (GRCm39) |
Y1030C |
probably damaging |
Het |
Mpdu1 |
T |
C |
11: 69,549,435 (GRCm39) |
T87A |
probably damaging |
Het |
Or1j18 |
T |
A |
2: 36,624,362 (GRCm39) |
S10T |
probably benign |
Het |
Or52h1 |
T |
A |
7: 103,829,478 (GRCm39) |
I46F |
possibly damaging |
Het |
Pde6h |
A |
G |
6: 136,940,264 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,421,993 (GRCm39) |
I3088V |
probably benign |
Het |
Plec |
G |
T |
15: 76,063,359 (GRCm39) |
T2259K |
possibly damaging |
Het |
Ptch2 |
C |
T |
4: 116,967,593 (GRCm39) |
R754C |
probably damaging |
Het |
Ptpn12 |
T |
C |
5: 21,227,060 (GRCm39) |
T81A |
possibly damaging |
Het |
Sars2 |
C |
T |
7: 28,441,585 (GRCm39) |
R49* |
probably null |
Het |
Scyl1 |
G |
T |
19: 5,820,341 (GRCm39) |
Y164* |
probably null |
Het |
Smarcd1 |
T |
C |
15: 99,609,082 (GRCm39) |
C419R |
possibly damaging |
Het |
Syne2 |
C |
A |
12: 76,012,512 (GRCm39) |
R2568S |
probably benign |
Het |
Tap2 |
A |
G |
17: 34,433,616 (GRCm39) |
|
probably benign |
Het |
Thrb |
T |
A |
14: 18,033,455 (GRCm38) |
I406K |
probably damaging |
Het |
Tnn |
T |
A |
1: 159,968,163 (GRCm39) |
I410F |
probably benign |
Het |
Tns2 |
T |
C |
15: 102,021,178 (GRCm39) |
S940P |
probably benign |
Het |
Trav6-2 |
A |
G |
14: 52,905,243 (GRCm39) |
K88R |
probably benign |
Het |
Ttbk2 |
T |
C |
2: 120,586,352 (GRCm39) |
M386V |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,215,675 (GRCm39) |
E224G |
probably damaging |
Het |
Vmn1r46 |
T |
A |
6: 89,953,963 (GRCm39) |
C271S |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,302,560 (GRCm39) |
E1808G |
possibly damaging |
Het |
Zfp385a |
A |
G |
15: 103,228,733 (GRCm39) |
I42T |
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 |
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 |
|
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 |
|
|
Posted On |
2015-04-16 |