Mutagenetix > Incidental Mutation

Incidental Mutation 'R0062:Fetub'

46656

Institutional Source

Beutler Lab

Gene Symbol

Fetub

Ensembl Gene

ENSMUSG00000022871

Gene Name

fetuin beta

Synonyms

2310011O17Rik, D17980

MMRRC Submission

038354-MU

Accession Numbers

Essential gene?

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

Stock #

R0062 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

22737132-22758518 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 22747836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156318 (fasta)

Gene Model

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

AlphaFold

Q9QXC1

Predicted Effect

unknown
Transcript: ENSMUST00000023587
AA Change: L4P

SMART Domains

Protein: ENSMUSP00000023587
Gene: ENSMUSG00000022871
AA Change: L4P

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 benign
Transcript: ENSMUST00000116625

SMART Domains

Protein: ENSMUSP00000112324
Gene: ENSMUSG00000022871

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

Predicted Effect

unknown
Transcript: ENSMUST00000167399
AA Change: L4P

SMART Domains

Protein: ENSMUSP00000128745
Gene: ENSMUSG00000022871
AA Change: L4P

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

unknown
Transcript: ENSMUST00000170805
AA Change: L4P

SMART Domains

Protein: ENSMUSP00000128989
Gene: ENSMUSG00000022871
AA Change: L4P

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

unknown
Transcript: ENSMUST00000231768
AA Change: L4P

Predicted Effect

probably benign
Transcript: ENSMUST00000231880

Predicted Effect

unknown
Transcript: ENSMUST00000232097
AA Change: L4P

Meta Mutation Damage Score

0.2683

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (70/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	T	10: 120,614,511 (GRCm39)		probably benign	Het
4930407I10Rik	T	A	15: 81,947,267 (GRCm39)	I388K	probably benign	Het
4930407I10Rik	T	A	15: 81,950,504 (GRCm39)	V1467D	probably damaging	Het
Abi2	T	A	1: 60,492,884 (GRCm39)	N182K	probably benign	Het
Adam25	A	T	8: 41,207,829 (GRCm39)	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,603,030 (GRCm39)	Y20N	probably damaging	Het
Aqp11	C	T	7: 97,387,068 (GRCm39)	V43M	probably benign	Het
Arhgef10l	A	T	4: 140,279,843 (GRCm39)	L503Q	probably damaging	Het
Arhgef28	A	T	13: 98,093,150 (GRCm39)	I977N	possibly damaging	Het
Cacna1b	A	G	2: 24,648,343 (GRCm39)	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,579,198 (GRCm39)	D1480G	probably damaging	Het
Clk3	A	G	9: 57,659,449 (GRCm39)	M533T	probably damaging	Het
Cnbd1	A	G	4: 18,860,504 (GRCm39)	I414T	possibly damaging	Het
Commd3	A	T	2: 18,679,514 (GRCm39)		probably null	Het
Crybg1	G	T	10: 43,873,902 (GRCm39)	Q1069K	probably damaging	Het
Dnah8	T	A	17: 30,984,685 (GRCm39)	F3128I	probably damaging	Het
Dnmt3b	C	T	2: 153,514,192 (GRCm39)	P382S	probably benign	Het
Dock1	A	G	7: 134,379,224 (GRCm39)		probably null	Het
Dpysl3	C	T	18: 43,466,941 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,475,989 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,305,624 (GRCm39)	E250G	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fmn2	A	T	1: 174,436,015 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,179,621 (GRCm39)	I2929V	probably benign	Het
Gm11232	T	A	4: 71,675,112 (GRCm39)	Q130L	possibly damaging	Het
Gm9637	G	T	14: 19,402,570 (GRCm38)		noncoding transcript	Het
Gna15	A	G	10: 81,348,239 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,462,198 (GRCm39)		probably benign	Het
Irs2	G	A	8: 11,055,723 (GRCm39)	T903I	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,276,621 (GRCm39)	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,225 (GRCm39)	V593M	possibly damaging	Het
Kprp	T	C	3: 92,731,989 (GRCm39)	S354G	probably damaging	Het
Krt72	T	C	15: 101,694,443 (GRCm39)	K151E	probably damaging	Het
Letm2	A	T	8: 26,077,464 (GRCm39)		probably benign	Het
Lipe	A	G	7: 25,097,874 (GRCm39)	V23A	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mef2c	A	G	13: 83,800,992 (GRCm39)	N231D	possibly damaging	Het
Mtdh	T	A	15: 34,134,426 (GRCm39)		probably benign	Het
Mthfd1	G	A	12: 76,344,363 (GRCm39)		probably benign	Het
Nbeal1	C	A	1: 60,286,876 (GRCm39)	N899K	probably benign	Het
Noc3l	T	C	19: 38,803,253 (GRCm39)	S129G	probably benign	Het
Odad2	T	A	18: 7,129,593 (GRCm39)		probably benign	Het
Or10ak14	T	C	4: 118,611,100 (GRCm39)	I212V	probably benign	Het
Or2aj6	T	C	16: 19,443,167 (GRCm39)	M228V	probably benign	Het
Or4c118	T	C	2: 88,974,966 (GRCm39)	I134V	possibly damaging	Het
Or8b1c	T	A	9: 38,384,554 (GRCm39)	D170E	probably benign	Het
Pik3r6	T	A	11: 68,419,635 (GRCm39)	Y149N	probably damaging	Het
Pja2	C	A	17: 64,615,966 (GRCm39)	V310L	probably damaging	Het
Plcd3	G	A	11: 102,965,720 (GRCm39)	A504V	probably benign	Het
Rint1	G	A	5: 23,992,826 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,826,358 (GRCm39)		probably benign	Het
Rpa2	C	A	4: 132,505,125 (GRCm39)	N251K	probably damaging	Het
Rttn	T	C	18: 89,029,090 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,884,002 (GRCm39)		probably null	Het
Scara3	T	C	14: 66,168,417 (GRCm39)	N400S	probably damaging	Het
Slc7a6	G	T	8: 106,916,263 (GRCm39)	V180L	possibly damaging	Het
Slc7a6	T	A	8: 106,916,264 (GRCm39)	V180E	probably damaging	Het
Slc8b1	T	A	5: 120,659,928 (GRCm39)		probably null	Het
Slco1a4	G	A	6: 141,765,205 (GRCm39)	Q346*	probably null	Het
Stk32b	A	G	5: 37,618,792 (GRCm39)	S229P	probably damaging	Het
Syde2	A	G	3: 145,704,508 (GRCm39)	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,104,355 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,317,654 (GRCm39)	V396A	probably benign	Het
Trrap	T	C	5: 144,719,003 (GRCm39)		probably benign	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,997,802 (GRCm39)	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,806,456 (GRCm39)	T114I	possibly damaging	Het
Zc3h7a	T	C	16: 10,957,011 (GRCm39)	N866S	probably damaging	Het
Zfc3h1	A	G	10: 115,252,658 (GRCm39)	K1324E	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
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
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

Posted On

2013-06-11