Incidental Mutation 'R8386:Fcna'
| ID |
647149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcna
|
| Ensembl Gene |
ENSMUSG00000026938 |
| Gene Name |
ficolin A |
| Synonyms |
Fcn1, ficolin A |
| MMRRC Submission |
067752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25514678-25518042 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 25516027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 163
(W163*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028307]
[ENSMUST00000142087]
|
| AlphaFold |
O70165 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028307
AA Change: W163*
|
| SMART Domains |
Protein: ENSMUSP00000028307
Gene: ENSMUSG00000026938
AA Change: W163*
| 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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,021,518 (GRCm39) |
A1064D |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,226,048 (GRCm39) |
I1390T |
probably damaging |
Het |
| Aktip |
G |
A |
8: 91,857,674 (GRCm39) |
R13C |
probably benign |
Het |
| Arnt2 |
T |
A |
7: 83,996,747 (GRCm39) |
I71F |
probably damaging |
Het |
| Casr |
T |
A |
16: 36,335,950 (GRCm39) |
I120F |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,073,029 (GRCm39) |
R544S |
probably damaging |
Het |
| Cse1l |
T |
C |
2: 166,761,604 (GRCm39) |
S53P |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,527,488 (GRCm39) |
S207P |
probably damaging |
Het |
| Fam120b |
G |
A |
17: 15,643,246 (GRCm39) |
S675N |
probably benign |
Het |
| Gast |
A |
G |
11: 100,227,691 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv6-14 |
T |
C |
6: 70,411,966 (GRCm39) |
Y106C |
probably damaging |
Het |
| Lin28b |
A |
G |
10: 45,345,140 (GRCm39) |
V62A |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,701,655 (GRCm39) |
S757T |
unknown |
Het |
| Ms4a15 |
A |
T |
19: 10,970,546 (GRCm39) |
C3S |
unknown |
Het |
| Muc5ac |
G |
A |
7: 141,361,371 (GRCm39) |
V1561I |
possibly damaging |
Het |
| Ndufb11b |
C |
T |
15: 81,864,830 (GRCm39) |
L24F |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5p70 |
TTTCTTCTTCT |
TTTCTTCT |
7: 107,994,555 (GRCm39) |
|
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,338 (GRCm39) |
D144G |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,282,319 (GRCm39) |
V149D |
unknown |
Het |
| Shcbp1 |
A |
C |
8: 4,817,951 (GRCm39) |
W115G |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,230 (GRCm39) |
K631M |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,832 (GRCm39) |
S168R |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,250 (GRCm39) |
N314K |
probably damaging |
Het |
| Syngap1 |
T |
A |
17: 27,179,465 (GRCm39) |
M755K |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,317,823 (GRCm39) |
D11G |
unknown |
Het |
| Trim80 |
A |
G |
11: 115,335,900 (GRCm39) |
D274G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,460,403 (GRCm39) |
T2555A |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,678,483 (GRCm39) |
|
probably null |
Het |
| Wnt7a |
C |
T |
6: 91,343,270 (GRCm39) |
G204D |
probably damaging |
Het |
| Zfp420 |
A |
T |
7: 29,575,043 (GRCm39) |
Y421F |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,667,962 (GRCm39) |
H263R |
probably benign |
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 |
|
|
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 |
|
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'- CAGGGCTGACATGTTTTGATGC -3'
(R):5'- GAGTATACCCCAGATACAGGCC -3'
Sequencing Primer
(F):5'- TCACTTCACAGAGTTCTAGATCTGG -3'
(R):5'- GCCAACCCTGCCCACTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation