Mutagenetix > Incidental Mutation

Incidental Mutation 'R5272:Fibcd1'

400381

Institutional Source

Beutler Lab

Gene Symbol

Fibcd1

Ensembl Gene

ENSMUSG00000026841

Gene Name

fibrinogen C domain containing 1

Synonyms

MMRRC Submission

042836-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31703302-31736017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31706635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 399 (C399S)

Ref Sequence

ENSEMBL: ENSMUSP00000028188 (fasta)

Gene Model

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

AlphaFold

A2AV25

Predicted Effect

probably damaging
Transcript: ENSMUST00000028188
AA Change: C399S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028188
Gene: ENSMUSG00000026841
AA Change: C399S

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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	A	G	3: 32,772,759 (GRCm39)	E245G	probably damaging	Het
Arsb	A	T	13: 93,930,670 (GRCm39)	T213S	possibly damaging	Het
Cep152	G	A	2: 125,452,950 (GRCm39)	T374I	probably benign	Het
Crx	C	T	7: 15,602,210 (GRCm39)	C156Y	probably damaging	Het
Csmd1	T	A	8: 16,249,958 (GRCm39)	T1007S	probably damaging	Het
Cyp19a1	A	T	9: 54,083,898 (GRCm39)	C164S	probably benign	Het
Ddx55	A	T	5: 124,696,092 (GRCm39)	I137F	possibly damaging	Het
Dgkg	C	A	16: 22,407,044 (GRCm39)		probably null	Het
Dicer1	A	G	12: 104,670,499 (GRCm39)	I1022T	probably damaging	Het
Dis3l2	T	C	1: 86,901,126 (GRCm39)	V439A	possibly damaging	Het
Dnah5	T	C	15: 28,350,811 (GRCm39)	V2611A	probably benign	Het
Dnah6	A	G	6: 73,104,844 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,240,985 (GRCm39)	K170*	probably null	Het
Fnbp4	G	A	2: 90,583,459 (GRCm39)	M327I	probably benign	Het
Fryl	A	T	5: 73,222,479 (GRCm39)	L256*	probably null	Het
Galr1	T	A	18: 82,423,761 (GRCm39)	Y172F	probably benign	Het
Gpi1	T	C	7: 33,920,115 (GRCm39)	N186S	probably damaging	Het
Kcnh8	A	G	17: 53,212,043 (GRCm39)	I614V	probably damaging	Het
Krt23	A	T	11: 99,369,099 (GRCm39)	I398N	probably damaging	Het
Mia3	G	A	1: 183,109,125 (GRCm39)	R656*	probably null	Het
Mup6	G	C	4: 60,005,922 (GRCm39)	G138A	probably damaging	Het
Nectin3	A	G	16: 46,268,839 (GRCm39)	V521A	possibly damaging	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Nphs1	A	G	7: 30,181,067 (GRCm39)	E1096G	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Panx1	C	T	9: 14,956,152 (GRCm39)		probably null	Het
Pcdhb4	A	G	18: 37,440,819 (GRCm39)	Y43C	probably benign	Het
Plbd1	A	G	6: 136,617,156 (GRCm39)	Y62H	probably damaging	Het
Rab40b	A	G	11: 121,248,134 (GRCm39)	V190A	probably damaging	Het
Ryr3	T	C	2: 112,483,558 (GRCm39)	E4063G	probably damaging	Het
Smlr1	T	C	10: 25,411,925 (GRCm39)	I21V	probably benign	Het
Tenm4	T	A	7: 96,523,410 (GRCm39)	Y1614N	probably damaging	Het
Tesmin	C	A	19: 3,456,992 (GRCm39)	A257E	probably damaging	Het
Tgif1	A	G	17: 71,153,249 (GRCm39)	L34P	probably damaging	Het
Ticrr	C	A	7: 79,319,353 (GRCm39)	T446K	probably benign	Het
Tmc7	A	G	7: 118,160,276 (GRCm39)	I187T	probably benign	Het
Tpst2	T	A	5: 112,455,818 (GRCm39)	V119E	probably damaging	Het
Trf	A	T	9: 103,105,177 (GRCm39)	M45K	probably damaging	Het
Trim45	T	C	3: 100,837,235 (GRCm39)	C524R	probably damaging	Het
Ttc27	G	A	17: 75,049,972 (GRCm39)	V293I	probably damaging	Het
Ugt1a6b	C	T	1: 88,034,949 (GRCm39)	R96C	possibly damaging	Het
Vit	A	G	17: 78,894,264 (GRCm39)	Q222R	probably benign	Het
Zfp148	T	A	16: 33,316,594 (GRCm39)	V380D	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
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'- TAGACATAACCAGAGGACGCTG -3'
(R):5'- CAAACTCATGTGGCTGGTGG -3'

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

Posted On

2016-07-06