Incidental Mutation 'R4518:Fibcd1'
ID 334048
Institutional Source Beutler Lab
Gene Symbol Fibcd1
Ensembl Gene ENSMUSG00000026841
Gene Name fibrinogen C domain containing 1
Synonyms
MMRRC Submission 041762-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4518 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 31703302-31736017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31707207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 350 (V350E)
Ref Sequence ENSEMBL: ENSMUSP00000028188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028188]
AlphaFold A2AV25
Predicted Effect probably damaging
Transcript: ENSMUST00000028188
AA Change: V350E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028188
Gene: ENSMUSG00000026841
AA Change: V350E

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
Meta Mutation Damage Score 0.8614 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (60/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082J24Rik T A 5: 30,311,006 (GRCm39) probably null Het
Abr A G 11: 76,363,344 (GRCm39) S167P possibly damaging Het
Adamtsl2 T C 2: 26,985,559 (GRCm39) L481P probably benign Het
Atp8b3 C T 10: 80,359,681 (GRCm39) M984I probably benign Het
Brip1 G A 11: 85,968,704 (GRCm39) A827V possibly damaging Het
Carns1 T G 19: 4,220,069 (GRCm39) T389P probably benign Het
Ccdc88a T C 11: 29,432,651 (GRCm39) I1219T probably benign Het
Cckar T C 5: 53,857,264 (GRCm39) N311S probably damaging Het
Cenpc1 A G 5: 86,195,446 (GRCm39) S108P possibly damaging Het
Chpf G T 1: 75,451,689 (GRCm39) S588R probably damaging Het
Clca3a2 T A 3: 144,514,466 (GRCm39) T414S probably damaging Het
Cntrl A G 2: 35,038,986 (GRCm39) E1092G probably damaging Het
Crb2 C A 2: 37,680,401 (GRCm39) T443K probably damaging Het
Crppa G A 12: 36,523,179 (GRCm39) V203I possibly damaging Het
Cwf19l1 A G 19: 44,121,473 (GRCm39) V25A probably damaging Het
Cyb561d1 T C 3: 108,106,887 (GRCm39) I111V possibly damaging Het
Dbn1 A T 13: 55,624,042 (GRCm39) I350N possibly damaging Het
Dnajb4 T C 3: 151,890,813 (GRCm39) I329V probably benign Het
Dnmt1 G T 9: 20,823,274 (GRCm39) D1055E probably benign Het
Fam168a C T 7: 100,483,247 (GRCm39) A176V probably damaging Het
Farp2 A G 1: 93,548,363 (GRCm39) E1016G probably benign Het
Galnt3 C A 2: 65,923,954 (GRCm39) R438L probably damaging Het
Golga4 T A 9: 118,388,076 (GRCm39) S1733T probably benign Het
Golgb1 G A 16: 36,749,625 (GRCm39) E3076K probably damaging Het
Grm7 A G 6: 110,891,507 (GRCm39) probably null Het
Hcn2 T C 10: 79,560,536 (GRCm39) V289A probably benign Het
Hipk1 G T 3: 103,657,688 (GRCm39) H799N probably damaging Het
Klf14 A G 6: 30,934,867 (GRCm39) S256P possibly damaging Het
Muc6 T A 7: 141,230,489 (GRCm39) T1214S probably benign Het
Nlrp2 T A 7: 5,328,055 (GRCm39) D666V possibly damaging Het
Ntng1 A G 3: 109,842,329 (GRCm39) I148T probably damaging Het
Or4k35 T C 2: 111,100,263 (GRCm39) M150V probably benign Het
Or7d9 A G 9: 20,197,546 (GRCm39) I184V probably benign Het
Or7g27 T A 9: 19,250,556 (GRCm39) S267T possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pacs2 A G 12: 113,024,289 (GRCm39) D360G probably benign Het
Parp8 C A 13: 117,032,209 (GRCm39) L321F possibly damaging Het
Pdss2 T A 10: 43,248,146 (GRCm39) S217T probably damaging Het
Plekhn1 T C 4: 156,309,988 (GRCm39) S109G probably damaging Het
Prlr C A 15: 10,329,085 (GRCm39) T520K possibly damaging Het
Prokr2 T A 2: 132,216,012 (GRCm39) probably null Het
Rab3gap2 G A 1: 184,999,265 (GRCm39) V991I probably benign Het
Reln T C 5: 22,106,741 (GRCm39) I3210V probably benign Het
Rims2 T C 15: 39,300,922 (GRCm39) Y218H probably damaging Het
Slc41a1 T C 1: 131,766,863 (GRCm39) V127A probably damaging Het
St8sia6 T A 2: 13,797,562 (GRCm39) probably null Het
Tlr6 A G 5: 65,112,247 (GRCm39) F220S possibly damaging Het
Trmt1l C T 1: 151,324,094 (GRCm39) Q314* probably null Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vnn3 G A 10: 23,743,124 (GRCm39) V445M possibly damaging Het
Ypel1 A T 16: 16,913,905 (GRCm39) F173I possibly damaging Het
Zfhx4 T C 3: 5,477,578 (GRCm39) C3398R probably damaging Het
Zfyve16 T C 13: 92,657,820 (GRCm39) E697G possibly damaging Het
Other mutations in Fibcd1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- CCCATAGCATTGCAGGAGTG -3'
(R):5'- GCACACACTTAGCAGTTGTC -3'

Sequencing Primer
(F):5'- CATTGCAGGAGTGAGGACCC -3'
(R):5'- ACACTTAGCAGTTGTCCCAGC -3'
Posted On 2015-08-18