Mutagenetix > Incidental Mutation

Incidental Mutation 'R6193:Fetub'

502752

Institutional Source

Beutler Lab

Gene Symbol

Fetub

Ensembl Gene

ENSMUSG00000022871

Gene Name

fetuin beta

Synonyms

2310011O17Rik, D17980

MMRRC Submission

044333-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6193 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22737132-22758518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22751081 bp (GRCm39)

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	G	15: 60,792,629 (GRCm39)	I106T	probably benign	Het
Aagab	A	C	9: 63,524,795 (GRCm39)	N35H	possibly damaging	Het
Abcf1	A	C	17: 36,274,464 (GRCm39)	N161K	possibly damaging	Het
Adam11	T	A	11: 102,662,087 (GRCm39)	H140Q	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef26	A	T	3: 62,247,213 (GRCm39)	D99V	possibly damaging	Het
Arhgef28	A	G	13: 98,121,888 (GRCm39)	S559P	probably damaging	Het
Capn11	A	G	17: 45,964,430 (GRCm39)		probably null	Het
Ccdc157	T	C	11: 4,101,912 (GRCm39)	H3R	probably damaging	Het
Cd101	A	G	3: 100,927,778 (GRCm39)	L101P	probably damaging	Het
Clca3a1	A	G	3: 144,464,993 (GRCm39)	V80A	possibly damaging	Het
Cnot6	T	A	11: 49,570,850 (GRCm39)	I381F	probably benign	Het
Cntn3	T	A	6: 102,185,092 (GRCm39)	I675F	probably benign	Het
Cplx2	C	T	13: 54,527,406 (GRCm39)	P97S	probably damaging	Het
Crtac1	T	A	19: 42,312,236 (GRCm39)	E159V	possibly damaging	Het
Cyp27a1	A	G	1: 74,776,231 (GRCm39)	I416V	probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,014 (GRCm39)		noncoding transcript	Het
Cyp2d9	A	G	15: 82,336,728 (GRCm39)	T26A	probably benign	Het
Cyp2j7	T	A	4: 96,083,440 (GRCm39)	R503S	probably damaging	Het
Dclk1	A	T	3: 55,424,292 (GRCm39)		probably null	Het
Dgkq	A	T	5: 108,803,366 (GRCm39)	C231*	probably null	Het
Dync1i1	T	A	6: 5,730,679 (GRCm39)	M38K	probably benign	Het
Eif2ak4	C	T	2: 118,231,081 (GRCm39)		probably benign	Het
Ephx2	A	T	14: 66,326,961 (GRCm39)	D411E	probably benign	Het
Ephx2	T	G	14: 66,349,669 (GRCm39)	Q34P	probably benign	Het
Fer1l5	A	T	1: 36,448,517 (GRCm39)	N1092Y	probably benign	Het
Fzd4	A	T	7: 89,057,197 (GRCm39)	K415*	probably null	Het
Gfi1	A	T	5: 107,869,397 (GRCm39)	Y278N	probably benign	Het
Gm11565	T	C	11: 99,806,070 (GRCm39)	M154T	probably benign	Het
Gm7247	A	G	14: 51,759,299 (GRCm39)	I93V	possibly damaging	Het
Golm1	T	G	13: 59,792,972 (GRCm39)	I178L	probably benign	Het
Grip1	A	T	10: 119,874,219 (GRCm39)	D302V	probably damaging	Het
Gtf2h1	G	A	7: 46,456,254 (GRCm39)		probably null	Het
Herc2	C	A	7: 55,806,649 (GRCm39)	P2372T	probably damaging	Het
Ighv1-59	C	A	12: 115,298,786 (GRCm39)	L89F	probably damaging	Het
Ighv7-4	G	A	12: 114,186,445 (GRCm39)	A109V	possibly damaging	Het
Kcnk10	G	T	12: 98,407,031 (GRCm39)	Q222K	probably benign	Het
Klra6	A	T	6: 129,995,881 (GRCm39)	M159K	probably benign	Het
Lzts3	T	C	2: 130,479,306 (GRCm39)	T36A	probably damaging	Het
Mgam	T	A	6: 40,724,854 (GRCm39)	Y443*	probably null	Het
Mmp23	T	A	4: 155,735,990 (GRCm39)	M221L	possibly damaging	Het
Mmp7	T	A	9: 7,695,519 (GRCm39)	V132E	probably damaging	Het
Npas2	C	A	1: 39,331,843 (GRCm39)	T86N	probably damaging	Het
Or1e32	T	A	11: 73,705,650 (GRCm39)	H86L	probably benign	Het
Or5al7	C	T	2: 85,992,628 (GRCm39)	V222M	possibly damaging	Het
Papola	A	T	12: 105,786,605 (GRCm39)	E103V	probably benign	Het
Parp9	A	T	16: 35,767,921 (GRCm39)	N34Y	possibly damaging	Het
Pcdh7	A	G	5: 57,877,666 (GRCm39)	D407G	probably damaging	Het
Pcdhb5	T	G	18: 37,455,080 (GRCm39)	Y487D	probably damaging	Het
Pira12	C	G	7: 3,901,049 (GRCm39)		probably null	Het
Pla2g4a	T	C	1: 149,778,181 (GRCm39)	D5G	probably damaging	Het
Plxnb1	T	C	9: 108,933,971 (GRCm39)	L733P	probably benign	Het
Ppfia4	T	C	1: 134,251,899 (GRCm39)	D425G	probably benign	Het
Prss2	T	G	6: 41,498,754 (GRCm39)	I6S	unknown	Het
Psme3ip1	A	G	8: 95,302,348 (GRCm39)	S228P	probably damaging	Het
Qrfprl	T	A	6: 65,433,142 (GRCm39)	F321I	probably damaging	Het
Qrich2	T	A	11: 116,344,979 (GRCm39)	I1693L	probably benign	Het
Rad52	T	C	6: 119,897,143 (GRCm39)	V324A	probably benign	Het
Rapgef2	A	T	3: 78,976,751 (GRCm39)	Y1352N	possibly damaging	Het
Rsad2	T	G	12: 26,506,186 (GRCm39)	Y78S	probably damaging	Het
Scaf1	A	G	7: 44,656,204 (GRCm39)		probably benign	Het
Sfxn5	T	C	6: 85,246,918 (GRCm39)	T131A	probably damaging	Het
Slc4a10	T	G	2: 62,073,701 (GRCm39)		probably null	Het
Spmap2l	A	G	5: 77,164,183 (GRCm39)	D62G	possibly damaging	Het
Syt1	A	G	10: 108,336,597 (GRCm39)	V357A	probably benign	Het
Tenm2	T	A	11: 35,937,621 (GRCm39)	D1685V	probably damaging	Het
Tmc3	A	G	7: 83,252,543 (GRCm39)	T315A	probably benign	Het
Tmem266	T	C	9: 55,344,493 (GRCm39)	L375P	probably benign	Het
Tsks	T	G	7: 44,603,263 (GRCm39)	L355R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ube2f	T	A	1: 91,203,041 (GRCm39)		probably null	Het
Usp37	A	T	1: 74,532,087 (GRCm39)	V102D	probably damaging	Het
Usp44	G	A	10: 93,683,010 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,575,983 (GRCm39)	F527S	probably benign	Het
Zfp101	A	C	17: 33,600,720 (GRCm39)	Y345*	probably null	Het
Zfp160	C	A	17: 21,247,124 (GRCm39)	A558E	probably benign	Het
Zfp236	T	C	18: 82,622,372 (GRCm39)	E1686G	probably damaging	Het
Zfp655	T	A	5: 145,181,586 (GRCm39)	D481E	probably benign	Het
Zswim4	A	G	8: 84,952,774 (GRCm39)	V396A	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
R1844:Fetub	UTSW	16	22,754,419 (GRCm39)	missense	possibly damaging	0.94
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
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'- GCTAAAGAGTTCTCCCCACC -3'
(R):5'- TGACTTAGGAAGGCTGTCCC -3'

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

Posted On

2018-02-27