Incidental Mutation 'IGL02345:Fibcd1'
| ID |
289249 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fibcd1
|
| Ensembl Gene |
ENSMUSG00000026841 |
| Gene Name |
fibrinogen C domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL02345
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
31703302-31736017 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31706604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 409
(Y409C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028188]
|
| AlphaFold |
A2AV25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028188
AA Change: Y409C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028188
Gene: ENSMUSG00000026841
AA Change: Y409C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
Blast:FBG
|
196 |
236 |
8e-14 |
BLAST |
|
FBG
|
237 |
455 |
1.21e-117 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FIBCD1 is a conserved type II transmembrane endocytic receptor that binds chitin and is located primarily in the intestinal brush border (Schlosser et al., 2009 [PubMed 19710473]).[supplied by OMIM, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
T |
16: 14,214,215 (GRCm39) |
D177Y |
possibly damaging |
Het |
| Casc3 |
T |
C |
11: 98,718,390 (GRCm39) |
|
probably benign |
Het |
| Catspere2 |
G |
A |
1: 177,842,754 (GRCm39) |
V60I |
possibly damaging |
Het |
| Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,668,495 (GRCm39) |
D41G |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,147,758 (GRCm39) |
S181G |
possibly damaging |
Het |
| Dyrk1a |
T |
G |
16: 94,472,221 (GRCm39) |
S242A |
possibly damaging |
Het |
| Fcgbp |
T |
A |
7: 27,771,068 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,143,770 (GRCm39) |
W230R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,519,436 (GRCm39) |
S960G |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,649,143 (GRCm39) |
S390G |
possibly damaging |
Het |
| Gbx2 |
T |
C |
1: 89,856,698 (GRCm39) |
T231A |
probably benign |
Het |
| Gm5852 |
T |
A |
3: 93,635,055 (GRCm39) |
|
noncoding transcript |
Het |
| Lmo7 |
T |
C |
14: 102,124,909 (GRCm39) |
V456A |
probably damaging |
Het |
| Mark3 |
A |
G |
12: 111,593,541 (GRCm39) |
N191S |
probably damaging |
Het |
| Or7h8 |
C |
A |
9: 20,124,314 (GRCm39) |
S223Y |
possibly damaging |
Het |
| Pik3c2a |
C |
T |
7: 116,005,126 (GRCm39) |
E381K |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,383,552 (GRCm39) |
D457G |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,311,919 (GRCm39) |
S404P |
probably damaging |
Het |
| Prr16 |
T |
C |
18: 51,436,301 (GRCm39) |
F260S |
probably damaging |
Het |
| Psd4 |
T |
C |
2: 24,291,835 (GRCm39) |
|
probably null |
Het |
| Ptgs1 |
A |
G |
2: 36,132,983 (GRCm39) |
D327G |
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,679,755 (GRCm39) |
|
probably null |
Het |
| Spart |
T |
A |
3: 55,025,147 (GRCm39) |
|
probably null |
Het |
| Sugp1 |
A |
G |
8: 70,495,734 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
| Usp19 |
A |
G |
9: 108,371,057 (GRCm39) |
T240A |
probably benign |
Het |
| Vash2 |
A |
G |
1: 190,710,412 (GRCm39) |
V81A |
probably benign |
Het |
| Vmn2r41 |
T |
G |
7: 8,141,767 (GRCm39) |
N566H |
probably damaging |
Het |
| Wdr31 |
A |
G |
4: 62,377,083 (GRCm39) |
I42T |
possibly damaging |
Het |
| Zfp292 |
C |
T |
4: 34,809,244 (GRCm39) |
V1272I |
possibly damaging |
Het |
| Zfp638 |
C |
T |
6: 83,961,857 (GRCm39) |
R1899C |
probably damaging |
Het |
|
| Other mutations in Fibcd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Fibcd1
|
APN |
2 |
31,723,886 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01069:Fibcd1
|
APN |
2 |
31,711,531 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01606:Fibcd1
|
APN |
2 |
31,723,865 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02639:Fibcd1
|
APN |
2 |
31,707,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02682:Fibcd1
|
APN |
2 |
31,728,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0006:Fibcd1
|
UTSW |
2 |
31,728,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Fibcd1
|
UTSW |
2 |
31,711,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Fibcd1
|
UTSW |
2 |
31,706,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2397:Fibcd1
|
UTSW |
2 |
31,724,435 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2877:Fibcd1
|
UTSW |
2 |
31,728,678 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2878:Fibcd1
|
UTSW |
2 |
31,728,678 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2940:Fibcd1
|
UTSW |
2 |
31,707,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4518:Fibcd1
|
UTSW |
2 |
31,707,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Fibcd1
|
UTSW |
2 |
31,706,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Fibcd1
|
UTSW |
2 |
31,706,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Fibcd1
|
UTSW |
2 |
31,728,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7263:Fibcd1
|
UTSW |
2 |
31,707,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Fibcd1
|
UTSW |
2 |
31,723,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8316:Fibcd1
|
UTSW |
2 |
31,723,791 (GRCm39) |
splice site |
probably benign |
|
|
R8536:Fibcd1
|
UTSW |
2 |
31,706,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9184:Fibcd1
|
UTSW |
2 |
31,706,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9207:Fibcd1
|
UTSW |
2 |
31,706,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9490:Fibcd1
|
UTSW |
2 |
31,723,815 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9609:Fibcd1
|
UTSW |
2 |
31,728,653 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Fibcd1
|
UTSW |
2 |
31,728,551 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2015-04-16 |
Incidental Mutation