Incidental Mutation 'R0318:Fcna'
| ID |
25481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcna
|
| Ensembl Gene |
ENSMUSG00000026938 |
| Gene Name |
ficolin A |
| Synonyms |
Fcn1, ficolin A |
| MMRRC Submission |
038528-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25514678-25518042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25515071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 263
(S263P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028307]
[ENSMUST00000142087]
|
| AlphaFold |
O70165 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028307
AA Change: S263P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028307
Gene: ENSMUSG00000026938
AA Change: S263P
| 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: ENSMUST00000155684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155893
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,370 (GRCm39) |
L79Q |
probably damaging |
Het |
| Add1 |
T |
C |
5: 34,782,684 (GRCm39) |
V130A |
probably damaging |
Het |
| Ankrd23 |
G |
T |
1: 36,573,153 (GRCm39) |
T73K |
probably benign |
Het |
| Blk |
A |
G |
14: 63,611,646 (GRCm39) |
Y430H |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,531,709 (GRCm39) |
V272M |
probably damaging |
Het |
| Cerk |
C |
T |
15: 86,035,766 (GRCm39) |
A254T |
possibly damaging |
Het |
| Ces2a |
G |
A |
8: 105,467,456 (GRCm39) |
A494T |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,234,482 (GRCm39) |
Y258C |
probably damaging |
Het |
| Chaf1a |
C |
T |
17: 56,369,227 (GRCm39) |
T486I |
possibly damaging |
Het |
| Colec12 |
A |
G |
18: 9,848,446 (GRCm39) |
N208S |
possibly damaging |
Het |
| Coro7 |
T |
A |
16: 4,493,671 (GRCm39) |
H63L |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,216,173 (GRCm39) |
W833R |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,522,549 (GRCm39) |
W2707R |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,478,616 (GRCm39) |
I190K |
probably damaging |
Het |
| Dnmt3l |
G |
A |
10: 77,890,889 (GRCm39) |
V264M |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,293,270 (GRCm39) |
V33A |
probably damaging |
Het |
| Fam163a |
A |
G |
1: 155,955,715 (GRCm39) |
C26R |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,875,478 (GRCm39) |
S620P |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,419,685 (GRCm39) |
S165R |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,410 (GRCm39) |
T244A |
probably benign |
Het |
| Gpr152 |
T |
C |
19: 4,193,541 (GRCm39) |
S361P |
possibly damaging |
Het |
| Grm5 |
A |
T |
7: 87,252,175 (GRCm39) |
I142L |
probably damaging |
Het |
| Gucy2g |
A |
G |
19: 55,226,230 (GRCm39) |
S229P |
probably benign |
Het |
| Htr7 |
C |
T |
19: 35,946,886 (GRCm39) |
G376D |
probably damaging |
Het |
| Irgc |
T |
C |
7: 24,131,896 (GRCm39) |
D307G |
probably benign |
Het |
| Irs1 |
A |
T |
1: 82,266,381 (GRCm39) |
S612T |
probably benign |
Het |
| Maml2 |
C |
T |
9: 13,531,890 (GRCm39) |
T368I |
probably damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,072 (GRCm39) |
V64A |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Nptx1 |
C |
T |
11: 119,433,367 (GRCm39) |
E411K |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5ak25 |
C |
A |
2: 85,268,581 (GRCm39) |
R307M |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,590 (GRCm39) |
K22N |
possibly damaging |
Het |
| Psmd9 |
C |
A |
5: 123,372,712 (GRCm39) |
A65E |
possibly damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,795,907 (GRCm39) |
T679A |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,436 (GRCm39) |
P1281S |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,064,316 (GRCm39) |
M222V |
probably benign |
Het |
| Smg9 |
T |
C |
7: 24,120,313 (GRCm39) |
F429S |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,993,250 (GRCm39) |
Y258F |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,275,867 (GRCm39) |
Q220L |
probably damaging |
Het |
| Tas2r122 |
T |
C |
6: 132,688,795 (GRCm39) |
T33A |
possibly damaging |
Het |
| Tbc1d10b |
A |
G |
7: 126,798,206 (GRCm39) |
L645P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,665,619 (GRCm39) |
F47S |
probably benign |
Het |
| Timd4 |
T |
A |
11: 46,727,898 (GRCm39) |
H272Q |
probably benign |
Het |
| Ttll5 |
T |
G |
12: 85,923,368 (GRCm39) |
|
probably null |
Het |
| Veph1 |
G |
T |
3: 65,964,680 (GRCm39) |
S783Y |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,078 (GRCm39) |
L89S |
possibly damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,219 (GRCm39) |
V165A |
possibly damaging |
Het |
| Zfp286 |
T |
C |
11: 62,675,788 (GRCm39) |
D58G |
probably damaging |
Het |
| Zfyve26 |
C |
T |
12: 79,323,055 (GRCm39) |
R897H |
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 |
|
|
IGL03138:Fcna
|
UTSW |
2 |
25,520,693 (GRCm39) |
unclassified |
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'- AGTTGATGCCATCCGCATAACTCTC -3'
(R):5'- AAGGCTCCTATGCCAAGTACAGCTC -3'
Sequencing Primer
(F):5'- TCATGGGAGCCAGACAAGTAG -3'
(R):5'- TATGCCAAGTACAGCTCATTCCAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation