Incidental Mutation 'IGL01069:Fibcd1'
ID 50413
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) question?
Stock # IGL01069
Quality Score
Status
Chromosome 2
Chromosomal Location 31703302-31736017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31711531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 298 (E298G)
Ref Sequence ENSEMBL: ENSMUSP00000028188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028188]
AlphaFold A2AV25
Predicted Effect probably benign
Transcript: ENSMUST00000028188
AA Change: E298G

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028188
Gene: ENSMUSG00000026841
AA Change: E298G

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Fibcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Fibcd1 APN 2 31,723,886 (GRCm39) missense possibly damaging 0.67
IGL01606:Fibcd1 APN 2 31,723,865 (GRCm39) missense probably benign 0.21
IGL02345:Fibcd1 APN 2 31,706,604 (GRCm39) missense probably damaging 1.00
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 2013-06-21