Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:Fibcd1'

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301664

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fibcd1

Ensembl Gene

ENSMUSG00000026841

Gene Name

fibrinogen C domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

31813290-31846005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31817150 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 365 (T365M)

Ref Sequence

ENSEMBL: ENSMUSP00000028188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028188]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028188
AA Change: T365M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028188
Gene: ENSMUSG00000026841
AA Change: T365M

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,429,804	R71*	probably null	Het
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,649,620	M675T	probably damaging	Het
Baz1a	A	G	12: 54,896,025		probably benign	Het
Cd5l	T	C	3: 87,368,506	V261A	probably damaging	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,658,749	Q176L	probably benign	Het
D430042O09Rik	A	G	7: 125,872,792	I1518V	probably damaging	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hells	G	T	19: 38,938,429	L84F	probably damaging	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr116	A	T	17: 37,623,987	I216N	probably benign	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pola2	A	G	19: 5,953,774	V191A	probably benign	Het
Slc22a8	A	T	19: 8,593,959	Y18F	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	probably 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
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
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

Posted On

2015-04-16