Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02222:Fetub'

285181

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fetub

Ensembl Gene

ENSMUSG00000022871

Gene Name

fetuin beta

Synonyms

2310011O17Rik, D17980

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02222

Quality Score

Status

Chromosome

Chromosomal Location

22918334-22939778 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22932328 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 62 (L62F)

Ref Sequence

ENSEMBL: ENSMUSP00000112324 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023587
AA Change: L142F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023587
Gene: ENSMUSG00000022871
AA Change: L142F

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: L62F

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

SMART Domains

Protein: ENSMUSP00000112324
Gene: ENSMUSG00000022871
AA Change: L62F

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: L142F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128745
Gene: ENSMUSG00000022871
AA Change: L142F

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: L142F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128989
Gene: ENSMUSG00000022871
AA Change: L142F

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: L142F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231880
AA Change: L62F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232097
AA Change: L142F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,282,886	R1682W	probably benign	Het
Angptl6	A	T	9: 20,873,907	M450K	probably damaging	Het
Armc12	C	A	17: 28,538,720	N275K	probably damaging	Het
Cd27	T	C	6: 125,234,532	H144R	probably damaging	Het
Cenpf	T	C	1: 189,654,444	K1880E	probably benign	Het
Dchs1	A	T	7: 105,764,887	I907N	probably damaging	Het
Dpy19l4	A	C	4: 11,281,116	F443C	possibly damaging	Het
Eif3i	C	T	4: 129,592,088	D315N	possibly damaging	Het
Fam217a	A	G	13: 34,911,119	L128P	probably damaging	Het
Fam46b	T	C	4: 133,486,553	V245A	probably damaging	Het
Fmn1	A	T	2: 113,593,109	I1047F	probably damaging	Het
G2e3	A	G	12: 51,363,233	H267R	probably damaging	Het
Gigyf2	A	G	1: 87,410,863		probably null	Het
Gm10650	T	C	3: 128,040,140		noncoding transcript	Het
Grip1	C	T	10: 119,999,809	T470I	probably damaging	Het
Hmcn1	T	G	1: 150,806,401	D466A	probably benign	Het
Lrrc63	T	C	14: 75,086,140	Y548C	probably damaging	Het
Naaa	T	C	5: 92,259,550		probably benign	Het
Parpbp	T	A	10: 88,140,085	E55D	possibly damaging	Het
Pnpt1	G	A	11: 29,130,842	A29T	probably benign	Het
Pnpt1	A	T	11: 29,159,327	D691V	possibly damaging	Het
Pramef6	A	G	4: 143,895,846	M313T	possibly damaging	Het
Psg25	T	C	7: 18,529,727	N57S	probably damaging	Het
Selenbp2	T	A	3: 94,699,962	V168E	probably damaging	Het
Syne2	G	A	12: 75,952,843	E2337K	probably damaging	Het
Synj2	A	G	17: 6,037,480	T1269A	probably benign	Het
Tnfrsf13c	C	A	15: 82,223,163	V144L	probably damaging	Het
Uspl1	G	T	5: 149,194,044	V132L	probably benign	Het
Vmn2r58	T	A	7: 41,864,025	Y398F	possibly damaging	Het
Vps13a	T	A	19: 16,682,175	T1663S	probably benign	Het
Ythdc1	G	A	5: 86,828,043	R503H	possibly 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
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
R6274: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

Posted On

2015-04-16