Mutagenetix > Incidental Mutation

Incidental Mutation 'R1844:Fetub'

207593

Institutional Source

Beutler Lab

Gene Symbol

Fetub

Ensembl Gene

ENSMUSG00000022871

Gene Name

fetuin beta

Synonyms

2310011O17Rik, D17980

MMRRC Submission

039869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1844 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22737132-22758518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22754419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 209 (E209K)

Ref Sequence

ENSEMBL: ENSMUSP00000155898 (fasta)

Gene Model

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

AlphaFold

Q9QXC1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023587
AA Change: E209K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023587
Gene: ENSMUSG00000022871
AA Change: E209K

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

possibly damaging
Transcript: ENSMUST00000116625
AA Change: E129K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112324
Gene: ENSMUSG00000022871
AA Change: E129K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167399
AA Change: E209K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128745
Gene: ENSMUSG00000022871
AA Change: E209K

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

possibly damaging
Transcript: ENSMUST00000170805
AA Change: E209K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128989
Gene: ENSMUSG00000022871
AA Change: E209K

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

possibly damaging
Transcript: ENSMUST00000231768
AA Change: E209K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231880
AA Change: E129K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232097
AA Change: E209K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.1%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	A	G	4: 40,197,566 (GRCm39)	K857E	probably benign	Het
Adam20	A	G	8: 41,249,080 (GRCm39)	N397D	probably benign	Het
Adgrf3	T	G	5: 30,404,211 (GRCm39)	D347A	probably damaging	Het
Ang6	C	T	14: 44,239,330 (GRCm39)	E133K	possibly damaging	Het
Arhgap23	T	A	11: 97,354,234 (GRCm39)	W205R	probably damaging	Het
Arhgef40	C	A	14: 52,235,080 (GRCm39)	R1086S	probably damaging	Het
Atr	G	T	9: 95,787,870 (GRCm39)	A1488S	probably benign	Het
Cabin1	A	T	10: 75,579,184 (GRCm39)		probably null	Het
Cby2	C	T	14: 75,820,850 (GRCm39)	V292I	probably benign	Het
Cdh22	A	C	2: 164,985,614 (GRCm39)	F324C	probably damaging	Het
Cep350	T	C	1: 155,724,374 (GRCm39)	I3075V	probably damaging	Het
Chd9	A	T	8: 91,683,323 (GRCm39)	K588*	probably null	Het
Clns1a	A	T	7: 97,346,066 (GRCm39)	I44F	probably damaging	Het
Colgalt1	T	C	8: 72,063,995 (GRCm39)	I51T	possibly damaging	Het
Cpt2	C	T	4: 107,761,452 (GRCm39)	E217K	possibly damaging	Het
Ctss	A	G	3: 95,454,105 (GRCm39)		probably null	Het
Cyp1a1	A	G	9: 57,609,980 (GRCm39)	T465A	probably benign	Het
Dbn1	A	G	13: 55,629,160 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,018,143 (GRCm39)		probably null	Het
Dnajc1	A	C	2: 18,298,838 (GRCm39)	Y49*	probably null	Het
Dock10	T	A	1: 80,520,918 (GRCm39)	I1188L	probably damaging	Het
Dsg1c	T	G	18: 20,416,096 (GRCm39)		probably null	Het
Efcab6	G	A	15: 83,851,822 (GRCm39)	T352I	possibly damaging	Het
Eps8l3	T	C	3: 107,786,902 (GRCm39)	L26P	possibly damaging	Het
Fbxw26	A	G	9: 109,553,946 (GRCm39)	V231A	probably benign	Het
Galc	A	T	12: 98,212,556 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,222,892 (GRCm39)	N65K	probably benign	Het
Gstp3	A	G	19: 4,107,540 (GRCm39)	I208T	probably benign	Het
Gtpbp3	A	G	8: 71,945,272 (GRCm39)	Y448C	probably benign	Het
Hdac7	G	T	15: 97,705,857 (GRCm39)	Q385K	probably damaging	Het
Hemgn	C	T	4: 46,396,655 (GRCm39)	V194M	possibly damaging	Het
Idh2	G	C	7: 79,748,625 (GRCm39)	T113R	probably benign	Het
Jarid2	A	C	13: 45,056,219 (GRCm39)	K336T	possibly damaging	Het
Kcnj4	C	T	15: 79,369,216 (GRCm39)	V255M	probably damaging	Het
Ldhb	C	A	6: 142,439,934 (GRCm39)	W202L	probably damaging	Het
Lmbrd2	T	A	15: 9,177,838 (GRCm39)	Y512*	probably null	Het
Lrp1	A	G	10: 127,431,152 (GRCm39)		probably null	Het
Map3k12	G	A	15: 102,411,970 (GRCm39)	P365S	probably damaging	Het
Map3k5	G	A	10: 19,979,909 (GRCm39)	D806N	probably benign	Het
Matn3	A	G	12: 9,017,662 (GRCm39)	E438G	possibly damaging	Het
Mcmbp	G	A	7: 128,325,698 (GRCm39)	L97F	probably damaging	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Mphosph8	T	C	14: 56,934,616 (GRCm39)	V855A	probably damaging	Het
Mycbp2	T	A	14: 103,393,150 (GRCm39)	H3027L	possibly damaging	Het
Nbea	C	T	3: 55,989,857 (GRCm39)	R333H	probably damaging	Het
Notch1	G	T	2: 26,350,446 (GRCm39)	H2231Q	probably benign	Het
Npas2	A	T	1: 39,364,456 (GRCm39)	H266L	probably damaging	Het
Oas3	A	G	5: 120,898,045 (GRCm39)	S833P	probably damaging	Het
Or1j15	T	C	2: 36,458,789 (GRCm39)	Y60H	probably damaging	Het
Or5ak24	T	C	2: 85,260,265 (GRCm39)	T303A	probably benign	Het
Or5w17	A	C	2: 87,584,334 (GRCm39)	M1R	probably null	Het
Or6c65	G	A	10: 129,603,725 (GRCm39)	R120H	probably benign	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pitpnm1	T	C	19: 4,162,395 (GRCm39)	V1075A	probably damaging	Het
Pkp3	G	A	7: 140,668,415 (GRCm39)	V555M	probably damaging	Het
Plekhm2	T	C	4: 141,359,685 (GRCm39)	T381A	probably benign	Het
Plppr3	A	G	10: 79,702,244 (GRCm39)		probably null	Het
Ppp2r5e	A	T	12: 75,516,540 (GRCm39)	F216I	possibly damaging	Het
Ppp3ca	T	A	3: 136,627,672 (GRCm39)	V412D	probably benign	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Psph	A	C	5: 129,843,532 (GRCm39)	I174R	probably damaging	Het
Ptov1	A	G	7: 44,514,991 (GRCm39)	Y207H	possibly damaging	Het
Ptprs	A	G	17: 56,741,510 (GRCm39)	S585P	probably damaging	Het
Rnf146	A	T	10: 29,223,720 (GRCm39)	H55Q	probably damaging	Het
Rnf213	T	A	11: 119,332,009 (GRCm39)	M2407K	probably damaging	Het
Rnls	A	C	19: 33,179,931 (GRCm39)	L55R	possibly damaging	Het
Rptor	T	C	11: 119,647,146 (GRCm39)	C246R	probably damaging	Het
Rrp12	C	T	19: 41,866,222 (GRCm39)		probably null	Het
Samd3	A	G	10: 26,127,672 (GRCm39)	D223G	probably damaging	Het
Sdad1	G	A	5: 92,453,155 (GRCm39)	Q68*	probably null	Het
Selenov	G	A	7: 27,989,847 (GRCm39)	T219M	probably damaging	Het
Shd	A	G	17: 56,278,554 (GRCm39)	D39G	possibly damaging	Het
Slc26a10	A	T	10: 127,014,279 (GRCm39)	V245E	probably damaging	Het
Slit1	A	G	19: 41,614,012 (GRCm39)	L820P	probably damaging	Het
Snap23	T	C	2: 120,421,163 (GRCm39)	F96L	probably benign	Het
Speer1k	T	C	5: 10,998,994 (GRCm39)		probably benign	Het
Spef1l	A	T	7: 139,556,005 (GRCm39)	I212N	probably benign	Het
Stkld1	A	G	2: 26,840,115 (GRCm39)	H395R	probably damaging	Het
Syt13	G	A	2: 92,771,165 (GRCm39)	G84D	probably damaging	Het
Terb2	T	A	2: 122,016,990 (GRCm39)	L37Q	probably damaging	Het
Themis	A	G	10: 28,657,753 (GRCm39)	Y107C	probably damaging	Het
Top2a	T	A	11: 98,906,895 (GRCm39)	T249S	probably benign	Het
Tspo2	A	T	17: 48,756,148 (GRCm39)	F71Y	probably damaging	Het
Ttc21b	T	A	2: 66,053,921 (GRCm39)	K753*	probably null	Het
Ttk	A	G	9: 83,736,915 (GRCm39)	Y458C	possibly damaging	Het
Ttn	T	C	2: 76,586,017 (GRCm39)	R21905G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,254 (GRCm39)	F88I	probably benign	Het
Vmn1r119	A	G	7: 20,746,121 (GRCm39)	L87P	probably damaging	Het
Vmn1r36	A	G	6: 66,693,747 (GRCm39)	F6L	probably benign	Het
Vmn2r15	T	A	5: 109,434,860 (GRCm39)	K615*	probably null	Het
Wdr18	G	A	10: 79,802,561 (GRCm39)		probably null	Het
Wdr6	A	T	9: 108,453,176 (GRCm39)	W236R	probably damaging	Het
Zbtb48	T	C	4: 152,110,955 (GRCm39)	T187A	probably benign	Het

Other mutations in Fetub

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Fetub	APN	16	22,754,446 (GRCm39)	missense	probably benign	0.29
IGL00843:Fetub	APN	16	22,748,379 (GRCm39)	splice site	probably benign
IGL01450:Fetub	APN	16	22,747,986 (GRCm39)	missense	probably benign	0.01
IGL01522:Fetub	APN	16	22,748,391 (GRCm39)	start codon destroyed	probably null	0.10
IGL02222:Fetub	APN	16	22,751,078 (GRCm39)	missense	probably damaging	1.00
IGL02745:Fetub	APN	16	22,756,676 (GRCm39)	missense	probably damaging	0.99
R0062:Fetub	UTSW	16	22,747,836 (GRCm39)	intron	probably benign
R0310:Fetub	UTSW	16	22,748,506 (GRCm39)	splice site	probably benign
R0508:Fetub	UTSW	16	22,748,045 (GRCm39)	missense	probably benign	0.01
R0604:Fetub	UTSW	16	22,754,410 (GRCm39)	missense	possibly damaging	0.78
R1560:Fetub	UTSW	16	22,758,117 (GRCm39)	missense	probably benign	0.00
R1896:Fetub	UTSW	16	22,751,045 (GRCm39)	missense	probably damaging	1.00
R3716:Fetub	UTSW	16	22,754,443 (GRCm39)	missense	probably damaging	1.00
R3717:Fetub	UTSW	16	22,754,443 (GRCm39)	missense	probably damaging	1.00
R4274:Fetub	UTSW	16	22,754,429 (GRCm39)	missense	probably damaging	1.00
R4751:Fetub	UTSW	16	22,756,645 (GRCm39)	missense	probably benign	0.02
R4941:Fetub	UTSW	16	22,756,624 (GRCm39)	missense	probably benign	0.01
R5468:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R5470:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R5690:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R5692:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R5781:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R6038:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R6038:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R6039:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R6039:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R6193:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R6195:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R6244:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R6245:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R6273:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R6274:Fetub	UTSW	16	22,751,081 (GRCm39)	missense	probably damaging	1.00
R7134:Fetub	UTSW	16	22,748,007 (GRCm39)	missense	possibly damaging	0.54
R7698:Fetub	UTSW	16	22,758,059 (GRCm39)	missense	probably benign	0.31
R7969:Fetub	UTSW	16	22,748,449 (GRCm39)	missense	possibly damaging	0.89
R8437:Fetub	UTSW	16	22,752,985 (GRCm39)	missense	possibly damaging	0.57
R8788:Fetub	UTSW	16	22,758,182 (GRCm39)	nonsense	probably null
R8855:Fetub	UTSW	16	22,758,321 (GRCm39)	missense	possibly damaging	0.61
R8866:Fetub	UTSW	16	22,758,321 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- TACTGACTTGGTCTTGTGCC -3'
(R):5'- ATCACTGCATCAAGAGCTGC -3'

Sequencing Primer
(F):5'- CTGTGGGGACTTCAGGAAC -3'
(R):5'- GCATCAAGAGCTGCCCAGTTTC -3'

Posted On

2014-06-23