Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Fetub'

507549

Institutional Source

Beutler Lab

Gene Symbol

Fetub

Ensembl Gene

ENSMUSG00000022871

Gene Name

fetuin beta

Synonyms

2310011O17Rik, D17980

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22918334-22939778 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22932331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 143 (R143C)

Ref Sequence

ENSEMBL: ENSMUSP00000155898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023587] [ENSMUST00000116625] [ENSMUST00000167399] [ENSMUST00000170805] [ENSMUST00000231768] [ENSMUST00000231880] [ENSMUST00000232097]

AlphaFold

Q9QXC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023587
AA Change: R143C

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

SMART Domains

Protein: ENSMUSP00000023587
Gene: ENSMUSG00000022871
AA Change: R143C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CY	28	129	1.05e-2	SMART
CY	153	255	1.77e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116625
AA Change: R63C

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

SMART Domains

Protein: ENSMUSP00000112324
Gene: ENSMUSG00000022871
AA Change: R63C

Domain	Start	End	E-Value	Type
Blast:CY	1	61	4e-33	BLAST
CY	73	175	1.77e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167399
AA Change: R143C

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

SMART Domains

Protein: ENSMUSP00000128745
Gene: ENSMUSG00000022871
AA Change: R143C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CY	28	129	1.05e-2	SMART
CY	153	255	1.77e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170805
AA Change: R143C

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

SMART Domains

Protein: ENSMUSP00000128989
Gene: ENSMUSG00000022871
AA Change: R143C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CY	28	129	1.05e-2	SMART
CY	153	255	1.77e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000231768
AA Change: R143C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231880
AA Change: R63C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232097
AA Change: R143C

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

Meta Mutation Damage Score

0.2607

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female infertility due to premature hardening of the zona pellucida. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,618,863	S528T	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Bcl2l10	T	C	9: 75,351,072	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,929,323	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,486,635	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,089,045	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,368,241	V138A	probably damaging	Het
Cep290	A	G	10: 100,530,207	E1099G	probably damaging	Het
Cers1	T	A	8: 70,331,077	L225Q	probably damaging	Het
Cfb	T	C	17: 34,862,093	Q7R	probably benign	Het
Clk4	A	G	11: 51,271,921	S98G	possibly damaging	Het
Clock	A	G	5: 76,237,153	S406P	probably benign	Het
Csmd3	T	C	15: 47,621,437	I3178V	probably benign	Het
Dock10	A	G	1: 80,538,823	S1397P	probably damaging	Het
Fer1l4	A	G	2: 156,029,268	L1421P	probably damaging	Het
Greb1	G	T	12: 16,735,151	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
Gucy1b2	A	T	14: 62,415,939	C336S	probably damaging	Het
Hdac1	A	G	4: 129,519,109	C261R	probably damaging	Het
Hrasls5	C	T	19: 7,637,466	T231I	probably damaging	Het
Htt	T	C	5: 34,852,087	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,594,839	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,768,961	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180	V112I	probably benign	Het
Kif21b	A	G	1: 136,149,418	I393V	possibly damaging	Het
Krt74	T	C	15: 101,763,437		noncoding transcript	Het
Krtap29-1	T	C	11: 99,978,983	N24S	probably null	Het
Mut	T	C	17: 40,956,245	V570A	probably benign	Het
Myh7	T	C	14: 54,979,486	D1138G	probably damaging	Het
Nktr	T	C	9: 121,731,565	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,317,555	L861Q	probably damaging	Het
Notch3	C	A	17: 32,147,290	R990L	probably benign	Het
Nrap	T	C	19: 56,361,721	D655G	probably benign	Het
Olfr1329	A	T	4: 118,917,230	V79E	probably benign	Het
Olfr1451	G	A	19: 12,999,870	V295I	probably damaging	Het
Osbpl11	T	A	16: 33,227,056	I463N	probably damaging	Het
Pcsk6	A	T	7: 66,033,844	R749W	probably damaging	Het
Plxnb1	T	C	9: 109,112,141		probably null	Het
Polr1a	T	A	6: 71,954,890		probably null	Het
Ppm1g	T	C	5: 31,206,406	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,260,890	S191P	probably benign	Het
Prodh	T	C	16: 18,081,058	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,469,848	V103A	possibly damaging	Het
Sap18b	C	T	8: 95,825,541	H60Y	probably benign	Het
Sclt1	A	G	3: 41,629,516		probably null	Het
Serpinb1a	G	T	13: 32,842,866	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,475,365	Q107*	probably null	Het
Sipa1l2	C	T	8: 125,469,872	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Uaca	T	A	9: 60,850,291		probably null	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Usp9y	C	T	Y: 1,316,735	R1938H	probably damaging	Homo
Wnk4	C	T	11: 101,265,431	R42W	probably damaging	Het
Zfp326	T	A	5: 105,905,980	L242Q	probably damaging	Het

Other mutations in Fetub

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Fetub	APN	16	22935696	missense	probably benign	0.29
IGL00843:Fetub	APN	16	22929629	splice site	probably benign
IGL01450:Fetub	APN	16	22929236	missense	probably benign	0.01
IGL01522:Fetub	APN	16	22929641	start codon destroyed	probably null	0.10
IGL02222:Fetub	APN	16	22932328	missense	probably damaging	1.00
IGL02745:Fetub	APN	16	22937926	missense	probably damaging	0.99
R0062:Fetub	UTSW	16	22929086	intron	probably benign
R0310:Fetub	UTSW	16	22929756	splice site	probably benign
R0508:Fetub	UTSW	16	22929295	missense	probably benign	0.01
R0604:Fetub	UTSW	16	22935660	missense	possibly damaging	0.78
R1560:Fetub	UTSW	16	22939367	missense	probably benign	0.00
R1844:Fetub	UTSW	16	22935669	missense	possibly damaging	0.94
R1896:Fetub	UTSW	16	22932295	missense	probably damaging	1.00
R3716:Fetub	UTSW	16	22935693	missense	probably damaging	1.00
R3717:Fetub	UTSW	16	22935693	missense	probably damaging	1.00
R4274:Fetub	UTSW	16	22935679	missense	probably damaging	1.00
R4751:Fetub	UTSW	16	22937895	missense	probably benign	0.02
R4941:Fetub	UTSW	16	22937874	missense	probably benign	0.01
R5468:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R5470:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R5690:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R5692:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R5781:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R6038:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R6038:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R6039:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R6039:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R6193:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R6195:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R6244:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R6245:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R6273:Fetub	UTSW	16	22932331	missense	probably damaging	1.00
R7134:Fetub	UTSW	16	22929257	missense	possibly damaging	0.54
R7698:Fetub	UTSW	16	22939309	missense	probably benign	0.31
R7969:Fetub	UTSW	16	22929699	missense	possibly damaging	0.89
R8437:Fetub	UTSW	16	22934235	missense	possibly damaging	0.57
R8788:Fetub	UTSW	16	22939432	nonsense	probably null
R8855:Fetub	UTSW	16	22939571	missense	possibly damaging	0.61
R8866:Fetub	UTSW	16	22939571	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GCTAAAGAGTTCTCCCCACC -3'
(R):5'- GTGACTTAGGAAGGCTGTCC -3'

Sequencing Primer
(F):5'- ACACAGAACTGGATTTAAGTTTCAC -3'
(R):5'- TTAGGAAGGCTGTCCCCTGG -3'

Posted On

2018-03-15