Mutagenetix > Incidental Mutation

Incidental Mutation 'R8536:Fibcd1'

659225

Institutional Source

Beutler Lab

Gene Symbol

Fibcd1

Ensembl Gene

ENSMUSG00000026841

Gene Name

fibrinogen C domain containing 1

Synonyms

MMRRC Submission

067890-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8536 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31703302-31736017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31706643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 396 (E396G)

Ref Sequence

ENSEMBL: ENSMUSP00000028188 (fasta)

Gene Model

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

AlphaFold

A2AV25

Predicted Effect

probably damaging
Transcript: ENSMUST00000028188
AA Change: E396G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028188
Gene: ENSMUSG00000026841
AA Change: E396G

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,217 (GRCm39)	V217M	probably benign	Het
Abca4	A	G	3: 121,973,394 (GRCm39)	Q1074R	probably benign	Het
Ablim1	T	C	19: 57,170,718 (GRCm39)		probably benign	Het
Acox2	A	T	14: 8,256,081 (GRCm38)	D79E	probably benign	Het
Bpifb9b	A	G	2: 154,158,197 (GRCm39)	I440V	probably benign	Het
Ccdc7a	T	A	8: 129,516,601 (GRCm39)	T118S	possibly damaging	Het
Cntln	T	C	4: 84,875,286 (GRCm39)	I240T	probably damaging	Het
Col15a1	T	C	4: 47,208,536 (GRCm39)		probably null	Het
Cox18	A	G	5: 90,362,877 (GRCm39)	F326S	probably damaging	Het
Dnm1l	C	A	16: 16,176,639 (GRCm39)	V31L	probably benign	Het
Dst	C	A	1: 34,236,327 (GRCm39)	L3578M	possibly damaging	Het
Fbxw24	G	A	9: 109,452,599 (GRCm39)	T132I	probably damaging	Het
Fchsd1	A	G	18: 38,100,823 (GRCm39)	V120A	probably benign	Het
Fryl	G	T	5: 73,257,696 (GRCm39)	T702K	probably damaging	Het
Gatb	A	T	3: 85,511,868 (GRCm39)	I208F	probably damaging	Het
Gzmd	T	C	14: 56,367,158 (GRCm39)	I245V	probably damaging	Het
Lats2	G	A	14: 57,940,495 (GRCm39)	A119V	probably damaging	Het
Lztfl1	A	T	9: 123,540,119 (GRCm39)	F129L	probably benign	Het
Meak7	T	C	8: 120,490,787 (GRCm39)	N320S	probably benign	Het
Mmp2	A	T	8: 93,557,253 (GRCm39)	Y53F	probably damaging	Het
Mttp	G	A	3: 137,810,704 (GRCm39)	R637C	probably damaging	Het
Ndufa8	A	C	2: 35,939,312 (GRCm39)		probably benign	Het
Nek11	A	T	9: 105,175,538 (GRCm39)	M302K	probably benign	Het
Nek6	A	G	2: 38,404,797 (GRCm39)		probably null	Het
Numa1	C	T	7: 101,650,787 (GRCm39)	A1506V	probably damaging	Het
Plxdc1	A	T	11: 97,869,522 (GRCm39)		probably null	Het
Poteg	C	A	8: 27,938,048 (GRCm39)	T6K	probably benign	Het
Rbm26	A	T	14: 105,380,274 (GRCm39)	N514K	possibly damaging	Het
Rnf145	T	C	11: 44,450,942 (GRCm39)	L422P	probably damaging	Het
Scn5a	G	T	9: 119,368,811 (GRCm39)	T238K	probably damaging	Het
Shd	G	A	17: 56,283,315 (GRCm39)	A315T	probably damaging	Het
Sirpd	A	G	3: 15,361,614 (GRCm39)	*179R	probably null	Het
Slco5a1	T	G	1: 12,951,525 (GRCm39)	T593P	possibly damaging	Het
Stard9	G	A	2: 120,545,140 (GRCm39)	R4560H	possibly damaging	Het
Traf3ip3	C	T	1: 192,876,823 (GRCm39)		probably null	Het
Trpm1	G	C	7: 63,897,155 (GRCm39)	K252N	probably damaging	Het
Ttc7b	A	T	12: 100,339,803 (GRCm39)	I584K	possibly damaging	Het
Vmn1r218	T	C	13: 23,321,535 (GRCm39)	V214A	probably benign	Het
Wdfy3	G	T	5: 102,033,064 (GRCm39)	H2215Q	probably benign	Het
Wls	G	A	3: 159,578,748 (GRCm39)	M103I	probably damaging	Het
Zmat4	T	C	8: 24,238,523 (GRCm39)		probably null	Het
Zmynd15	G	T	11: 70,353,387 (GRCm39)	C334F	probably damaging	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
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
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'- GACATAACCAGAGGACGCTG -3'
(R):5'- CACCCAAACTCATGTGGCTG -3'

Sequencing Primer
(F):5'- AGTCTAGCGGTCCTCACG -3'
(R):5'- CAAACTCATGTGGCTGGTGGAC -3'

Posted On

2021-01-18