Mutagenetix > Incidental Mutations

Incidental Mutation 'R4518:Fibcd1'

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

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4518 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31813290-31846005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31817195 bp

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]

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

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

Meta Mutation Damage Score

0.8614

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	T	A	5: 30,106,008		probably null	Het
Abr	A	G	11: 76,472,518	S167P	possibly damaging	Het
Adamtsl2	T	C	2: 27,095,547	L481P	probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Brip1	G	A	11: 86,077,878	A827V	possibly damaging	Het
Carns1	T	G	19: 4,170,070	T389P	probably benign	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cckar	T	C	5: 53,699,922	N311S	probably damaging	Het
Cenpc1	A	G	5: 86,047,587	S108P	possibly damaging	Het
Chpf	G	T	1: 75,475,045	S588R	probably damaging	Het
Clca3a2	T	A	3: 144,808,705	T414S	probably damaging	Het
Cntrl	A	G	2: 35,148,974	E1092G	probably damaging	Het
Crb2	C	A	2: 37,790,389	T443K	probably damaging	Het
Cwf19l1	A	G	19: 44,133,034	V25A	probably damaging	Het
Cyb561d1	T	C	3: 108,199,571	I111V	possibly damaging	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnajb4	T	C	3: 152,185,176	I329V	probably benign	Het
Dnmt1	G	T	9: 20,911,978	D1055E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fam168a	C	T	7: 100,834,040	A176V	probably damaging	Het
Farp2	A	G	1: 93,620,641	E1016G	probably benign	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
Golgb1	G	A	16: 36,929,263	E3076K	probably damaging	Het
Grm7	A	G	6: 110,914,546		probably null	Het
Hcn2	T	C	10: 79,724,702	V289A	probably benign	Het
Hipk1	G	T	3: 103,750,372	H799N	probably damaging	Het
Ispd	G	A	12: 36,473,180	V203I	possibly damaging	Het
Klf14	A	G	6: 30,957,932	S256P	possibly damaging	Het
Muc6	T	A	7: 141,644,222	T1214S	probably benign	Het
Nlrp2	T	A	7: 5,325,056	D666V	possibly damaging	Het
Ntng1	A	G	3: 109,935,013	I148T	probably damaging	Het
Olfr1277	T	C	2: 111,269,918	M150V	probably benign	Het
Olfr39	A	G	9: 20,286,250	I184V	probably benign	Het
Olfr845	T	A	9: 19,339,260	S267T	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pacs2	A	G	12: 113,060,669	D360G	probably benign	Het
Parp8	C	A	13: 116,895,673	L321F	possibly damaging	Het
Pdss2	T	A	10: 43,372,150	S217T	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Ppil2	A	T	16: 17,096,041	F173I	possibly damaging	Het
Prlr	C	A	15: 10,328,999	T520K	possibly damaging	Het
Prokr2	T	A	2: 132,374,092		probably null	Het
Rab3gap2	G	A	1: 185,267,068	V991I	probably benign	Het
Reln	T	C	5: 21,901,743	I3210V	probably benign	Het
Rims2	T	C	15: 39,437,526	Y218H	probably damaging	Het
Slc41a1	T	C	1: 131,839,125	V127A	probably damaging	Het
St8sia6	T	A	2: 13,792,751		probably null	Het
Tlr6	A	G	5: 64,954,904	F220S	possibly damaging	Het
Trmt1l	C	T	1: 151,448,343	Q314*	probably null	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vnn3	G	A	10: 23,867,226	V445M	possibly damaging	Het
Zfhx4	T	C	3: 5,412,518	C3398R	probably damaging	Het
Zfyve16	T	C	13: 92,521,312	E697G	possibly damaging	Het

Other mutations in Fibcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Fibcd1	APN	2	31833874	missense	possibly damaging	0.67
IGL01069:Fibcd1	APN	2	31821519	missense	probably benign	0.37
IGL01606:Fibcd1	APN	2	31833853	missense	probably benign	0.21
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
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
R8316:Fibcd1	UTSW	2	31833779	splice site	probably benign
R8536:Fibcd1	UTSW	2	31816631	missense	probably damaging	0.98
Z1176:Fibcd1	UTSW	2	31838539	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