Incidental Mutation 'IGL01606:Fibcd1'
ID93436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fibcd1
Ensembl Gene ENSMUSG00000026841
Gene Namefibrinogen C domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01606
Quality Score
Status
Chromosome2
Chromosomal Location31813290-31846005 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31833853 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 258 (I258T)
Ref Sequence ENSEMBL: ENSMUSP00000028188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028188]
Predicted Effect probably benign
Transcript: ENSMUST00000028188
AA Change: I258T

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028188
Gene: ENSMUSG00000026841
AA Change: I258T

DomainStartEndE-ValueType
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A G 17: 14,943,863 D84G probably damaging Het
Adat3 A T 10: 80,607,338 I337F probably damaging Het
Carmil3 T A 14: 55,493,849 N128K possibly damaging Het
Ceacam2 T C 7: 25,530,707 E158G possibly damaging Het
Cel T C 2: 28,560,564 I150V probably benign Het
Chd5 A G 4: 152,360,975 H441R probably damaging Het
Clic5 G T 17: 44,248,746 R109L probably benign Het
Cpd T C 11: 76,812,640 M466V probably benign Het
Cyp39a1 T A 17: 43,746,618 probably benign Het
Dnah11 C A 12: 117,983,032 A3106S probably benign Het
Fasn A C 11: 120,809,023 probably null Het
Fat1 G A 8: 45,023,049 V1688I probably benign Het
Frem2 C A 3: 53,653,591 R1165I possibly damaging Het
Gm5627 C T 9: 102,749,486 noncoding transcript Het
Gm5862 T A 5: 26,019,516 T152S probably benign Het
Gnb3 T A 6: 124,837,255 D154V probably damaging Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Klrb1 C A 6: 128,723,005 E14D probably benign Het
Osbpl1a A T 18: 12,756,214 D556E possibly damaging Het
Pkd1 T C 17: 24,576,523 V2330A probably damaging Het
Pkdrej T C 15: 85,817,700 K1345R possibly damaging Het
Plxna4 A G 6: 32,158,001 F1756L probably damaging Het
Psg28 A C 7: 18,430,371 S139A probably benign Het
Ptpru A T 4: 131,808,481 I395N possibly damaging Het
Reps1 A G 10: 18,107,687 E426G probably damaging Het
Rtp4 T A 16: 23,613,254 S179T probably benign Het
Sh3pxd2a C A 19: 47,268,596 R561L probably benign Het
Slc29a2 T A 19: 5,027,439 L215Q possibly damaging Het
Slc44a4 T C 17: 34,929,018 F653L probably damaging Het
Sulf1 G T 1: 12,836,204 R490L possibly damaging Het
Ttll4 T C 1: 74,685,893 L602P probably damaging Het
Ttn A G 2: 76,776,790 V17963A probably damaging Het
Urb1 A G 16: 90,760,459 S1760P probably damaging Het
Zmynd11 G A 13: 9,697,688 R149W probably damaging Het
Other mutations in Fibcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Fibcd1 APN 2 31833874 missense possibly damaging 0.67
IGL01069:Fibcd1 APN 2 31821519 missense probably benign 0.37
IGL02345:Fibcd1 APN 2 31816592 missense probably damaging 1.00
IGL02639:Fibcd1 APN 2 31817150 missense probably damaging 0.99
IGL02682:Fibcd1 APN 2 31838564 missense probably damaging 0.99
R0006:Fibcd1 UTSW 2 31838587 missense probably damaging 1.00
R1848:Fibcd1 UTSW 2 31821549 missense probably damaging 1.00
R1969:Fibcd1 UTSW 2 31816661 missense probably damaging 1.00
R2397:Fibcd1 UTSW 2 31834423 missense probably benign 0.37
R2877:Fibcd1 UTSW 2 31838666 missense probably benign 0.12
R2878:Fibcd1 UTSW 2 31838666 missense probably benign 0.12
R2940:Fibcd1 UTSW 2 31817264 missense probably damaging 1.00
R4518:Fibcd1 UTSW 2 31817195 missense probably damaging 1.00
R5272:Fibcd1 UTSW 2 31816623 missense probably damaging 1.00
R5272:Fibcd1 UTSW 2 31816624 missense probably damaging 1.00
R5594:Fibcd1 UTSW 2 31838617 missense probably damaging 1.00
R7263:Fibcd1 UTSW 2 31817210 missense probably damaging 1.00
R7686:Fibcd1 UTSW 2 31833868 missense probably damaging 0.99
Z1176:Fibcd1 UTSW 2 31838539 missense not run
Posted On2013-12-09