Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02682:Fibcd1'

303416

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 #

IGL02682

Quality Score

Status

Chromosome

Chromosomal Location

31703302-31736017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31728576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 94 (I94F)

Ref Sequence

ENSEMBL: ENSMUSP00000028188 (fasta)

Gene Model

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

AlphaFold

A2AV25

Predicted Effect

probably damaging
Transcript: ENSMUST00000028188
AA Change: I94F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028188
Gene: ENSMUSG00000026841
AA Change: I94F

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	A	G	2: 58,367,823 (GRCm39)	S113P	probably benign	Het
Arhgdib	A	T	6: 136,901,166 (GRCm39)	W188R	probably damaging	Het
Bcr	T	A	10: 75,001,878 (GRCm39)	N927K	possibly damaging	Het
Cd209c	A	G	8: 3,990,324 (GRCm39)	Y165H	probably damaging	Het
Cnnm2	A	G	19: 46,750,515 (GRCm39)	K102E	probably benign	Het
Col12a1	T	C	9: 79,606,623 (GRCm39)	E600G	probably damaging	Het
Ddx4	A	T	13: 112,758,720 (GRCm39)	H280Q	probably benign	Het
Eya4	T	C	10: 22,992,498 (GRCm39)	Y462C	probably damaging	Het
Gm4846	C	A	1: 166,322,195 (GRCm39)	G124V	probably damaging	Het
Gm5624	A	G	14: 44,797,469 (GRCm39)	I108T	possibly damaging	Het
Gpr179	A	T	11: 97,242,691 (GRCm39)	M51K	probably benign	Het
Hck	A	G	2: 152,976,054 (GRCm39)	I198V	probably damaging	Het
Kcnd2	T	A	6: 21,216,924 (GRCm39)	C209*	probably null	Het
Klhl1	T	A	14: 96,438,778 (GRCm39)	I507F	possibly damaging	Het
Knl1	A	T	2: 118,908,450 (GRCm39)	K1693N	possibly damaging	Het
Mcam	T	C	9: 44,051,714 (GRCm39)	V490A	possibly damaging	Het
Mrgprx1	A	T	7: 47,671,740 (GRCm39)	D2E	probably damaging	Het
Mtg1	T	C	7: 139,724,642 (GRCm39)		probably benign	Het
Myof	C	A	19: 37,909,929 (GRCm39)	R1512L	probably benign	Het
Nrp2	C	T	1: 62,810,996 (GRCm39)	T679I	probably benign	Het
Nwd2	C	A	5: 63,962,020 (GRCm39)	L535I	probably benign	Het
Nwd2	T	A	5: 63,962,021 (GRCm39)	L535H	probably damaging	Het
Or4f14b	T	A	2: 111,775,285 (GRCm39)	N172I	probably damaging	Het
Or52j3	A	T	7: 102,836,221 (GRCm39)	I138F	probably damaging	Het
Or5b94	T	C	19: 12,652,033 (GRCm39)	S155P	probably damaging	Het
Phkb	A	G	8: 86,602,275 (GRCm39)	*41W	probably null	Het
Prl5a1	T	A	13: 28,329,403 (GRCm39)	N27K	probably benign	Het
Rims1	T	C	1: 22,358,708 (GRCm39)	T1292A	probably damaging	Het
Rnf38	G	A	4: 44,133,745 (GRCm39)	A376V	probably damaging	Het
Slc34a2	T	C	5: 53,216,580 (GRCm39)	V117A	possibly damaging	Het
Slfn8	A	T	11: 82,894,517 (GRCm39)	F707L	probably damaging	Het
Snx16	G	A	3: 10,503,235 (GRCm39)	P4L	probably damaging	Het
Snx6	T	C	12: 54,801,130 (GRCm39)	D289G	probably damaging	Het
St8sia3	G	T	18: 64,402,750 (GRCm39)	V130F	probably damaging	Het
U2surp	A	G	9: 95,363,704 (GRCm39)		probably null	Het
Ubqln3	A	G	7: 103,791,272 (GRCm39)	F273L	probably benign	Het
Vmn2r101	A	T	17: 19,832,507 (GRCm39)	R834S	possibly damaging	Het
Vmn2r18	G	T	5: 151,508,102 (GRCm39)	H341N	probably damaging	Het
Vrk3	A	G	7: 44,403,244 (GRCm39)	I2V	probably benign	Het
Zglp1	A	G	9: 20,977,534 (GRCm39)	S94P	probably benign	Het

Other mutations in Fibcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-04-16