Mutagenetix > Incidental Mutation

Incidental Mutation 'R7134:Fetub'

552946

Institutional Source

Beutler Lab

Gene Symbol

Fetub

Ensembl Gene

ENSMUSG00000022871

Gene Name

fetuin beta

Synonyms

2310011O17Rik, D17980

MMRRC Submission

045219-MU

Accession Numbers

Essential gene?

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

Stock #

R7134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22737132-22758518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22748007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 61 (D61G)

Ref Sequence

ENSEMBL: ENSMUSP00000023587 (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: D61G

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023587
Gene: ENSMUSG00000022871
AA Change: D61G

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

possibly damaging
Transcript: ENSMUST00000167399
AA Change: D61G

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128745
Gene: ENSMUSG00000022871
AA Change: D61G

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: D61G

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128989
Gene: ENSMUSG00000022871
AA Change: D61G

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: D61G

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000231880

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232097
AA Change: D61G

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (84/85)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,270,144 (GRCm39)	F638S	possibly damaging	Het
Actl6b	T	A	5: 137,562,762 (GRCm39)	N159K	probably damaging	Het
Adam6a	T	G	12: 113,508,655 (GRCm39)	S343A	probably benign	Het
Ankrd17	G	A	5: 90,380,173 (GRCm39)	T2505I	probably damaging	Het
Ankrd17	T	C	5: 90,433,382 (GRCm39)	T728A	probably benign	Het
Asap2	G	T	12: 21,315,964 (GRCm39)	E919*	probably null	Het
Atp10b	A	T	11: 43,136,291 (GRCm39)	I1140F	probably damaging	Het
Cep126	A	T	9: 8,103,383 (GRCm39)	V209E	probably damaging	Het
Cfap65	C	T	1: 74,965,792 (GRCm39)	R406Q	probably benign	Het
Cldn1	T	C	16: 26,190,376 (GRCm39)	M1V	probably null	Het
Cryl1	C	T	14: 57,512,956 (GRCm39)	D304N	probably benign	Het
D3Ertd751e	T	C	3: 41,708,212 (GRCm39)		probably null	Het
D630044L22Rik	A	T	17: 26,181,090 (GRCm39)	M156L	probably benign	Het
Ddx21	T	C	10: 62,427,634 (GRCm39)	D423G	possibly damaging	Het
Dock2	T	A	11: 34,260,363 (GRCm39)	M993L	probably benign	Het
Dusp29	A	T	14: 21,727,129 (GRCm39)	I173N	probably damaging	Het
Eif4g1	C	T	16: 20,500,252 (GRCm39)	A675V	probably damaging	Het
Eml1	C	T	12: 108,472,810 (GRCm39)	S206L	probably benign	Het
Farp2	A	C	1: 93,531,181 (GRCm39)	I560L	probably benign	Het
Fbn1	A	T	2: 125,223,969 (GRCm39)	D593E	probably benign	Het
Fpgs	T	C	2: 32,576,641 (GRCm39)	K329E	probably benign	Het
Fpgt	T	C	3: 154,797,120 (GRCm39)	Y45C	probably damaging	Het
Gas2l1	A	T	11: 5,011,106 (GRCm39)	C574*	probably null	Het
Gm9747	G	T	1: 82,211,837 (GRCm39)	C12F	unknown	Het
H2-T23	T	C	17: 36,342,709 (GRCm39)	Y143C	probably damaging	Het
Hhip	A	T	8: 80,719,142 (GRCm39)	S462T	probably benign	Het
Hnf1a	C	T	5: 115,091,446 (GRCm39)	G416R	probably damaging	Het
Hoxa5	C	T	6: 52,181,023 (GRCm39)	C103Y	probably damaging	Het
Kansl3	G	T	1: 36,390,848 (GRCm39)	D395E	possibly damaging	Het
Marchf10	A	G	11: 105,299,502 (GRCm39)	S116P	probably benign	Het
Med12l	C	T	3: 59,001,180 (GRCm39)	Q748*	probably null	Het
Mroh7	T	A	4: 106,577,791 (GRCm39)	N296Y	probably damaging	Het
Mtbp	T	G	15: 55,421,961 (GRCm39)	D61E	probably benign	Het
Muc5b	A	T	7: 141,411,391 (GRCm39)	I1446L	unknown	Het
Myh15	T	C	16: 48,901,705 (GRCm39)	V266A	possibly damaging	Het
Nap1l1	G	A	10: 111,330,655 (GRCm39)		probably null	Het
Napsa	A	G	7: 44,235,159 (GRCm39)	T315A	probably benign	Het
Nlrc5	A	T	8: 95,206,350 (GRCm39)	I734F	probably damaging	Het
Nnt	A	G	13: 119,531,198 (GRCm39)	V183A	probably damaging	Het
Nploc4	A	T	11: 120,276,614 (GRCm39)	D477E	probably benign	Het
Nrip3	A	G	7: 109,364,695 (GRCm39)	S144P	probably damaging	Het
Ntng1	A	T	3: 109,842,445 (GRCm39)	F109L	probably benign	Het
Or5p61	A	G	7: 107,758,883 (GRCm39)	Y66H	probably damaging	Het
Or5v1	T	A	17: 37,809,776 (GRCm39)	V78D	probably damaging	Het
Or6aa1	G	A	7: 86,044,752 (GRCm39)		probably benign	Het
Or8b36	A	G	9: 37,937,795 (GRCm39)	E231G	probably benign	Het
Pacsin1	G	A	17: 27,921,707 (GRCm39)	D30N	probably damaging	Het
Pbld2	A	T	10: 62,860,368 (GRCm39)		probably benign	Het
Pcnx4	C	T	12: 72,613,750 (GRCm39)	T565I	probably damaging	Het
Pdzk1	A	T	3: 96,763,246 (GRCm39)	T225S	probably benign	Het
Phyhip	T	G	14: 70,704,639 (GRCm39)	I286S	probably benign	Het
Pkd1	T	A	17: 24,813,086 (GRCm39)	Y3903N	probably damaging	Het
Plcb3	A	T	19: 6,942,698 (GRCm39)	L222Q	probably damaging	Het
Plcd4	T	A	1: 74,593,662 (GRCm39)	H262Q	probably benign	Het
Plekhh1	C	T	12: 79,109,390 (GRCm39)	A474V	probably benign	Het
Plppr3	T	C	10: 79,701,537 (GRCm39)	E435G	probably damaging	Het
Poln	T	A	5: 34,276,340 (GRCm39)	N305I	possibly damaging	Het
Pou3f2	T	C	4: 22,486,874 (GRCm39)	T420A	probably benign	Het
Ppdpf	T	C	2: 180,829,523 (GRCm39)	Y17H	probably damaging	Het
Prrx2	C	A	2: 30,768,485 (GRCm39)	T104K	probably damaging	Het
Ptprj	A	T	2: 90,294,822 (GRCm39)	L462H	probably benign	Het
Radil	T	C	5: 142,471,304 (GRCm39)	T991A	probably damaging	Het
Rbsn	T	C	6: 92,178,608 (GRCm39)	E147G	probably damaging	Het
Ror2	C	T	13: 53,300,742 (GRCm39)	V35M	probably benign	Het
Rps6ka1	T	C	4: 133,599,373 (GRCm39)	Q18R	probably benign	Het
Setbp1	T	A	18: 78,902,734 (GRCm39)	D311V	possibly damaging	Het
Setd2	C	T	9: 110,377,865 (GRCm39)	S560L	possibly damaging	Het
Slc12a5	A	T	2: 164,816,878 (GRCm39)	I134F	probably damaging	Het
Speer1h	C	T	5: 11,647,706 (GRCm39)	T148I	possibly damaging	Het
Svil	A	G	18: 5,116,080 (GRCm39)	D2035G	probably damaging	Het
Syngap1	T	C	17: 27,178,985 (GRCm39)	Y665H	probably damaging	Het
Tbc1d9b	T	C	11: 50,043,519 (GRCm39)	Y547H	possibly damaging	Het
Tgm2	A	G	2: 157,980,812 (GRCm39)	V83A	probably benign	Het
Tmem233	T	C	5: 116,189,429 (GRCm39)	I117V	probably benign	Het
Tsen34	A	G	7: 3,703,640 (GRCm39)	T293A	probably damaging	Het
Ttn	A	G	2: 76,709,023 (GRCm39)	V8752A	unknown	Het
Ubac1	A	G	2: 25,904,974 (GRCm39)	V88A	probably benign	Het
Uchl4	T	C	9: 64,142,621 (GRCm39)	V34A	probably damaging	Het
Ugt2a2	C	T	5: 87,608,435 (GRCm39)	R468H	probably benign	Het
Vmn2r102	A	T	17: 19,897,749 (GRCm39)	T255S	probably benign	Het
Wdr6	T	A	9: 108,450,564 (GRCm39)	N988I	probably damaging	Het
Wnk1	A	T	6: 119,903,389 (GRCm39)	I2359N	unknown	Het
Ybey	A	G	10: 76,304,025 (GRCm39)	V59A	probably benign	Het
Zfp268	T	A	4: 145,349,375 (GRCm39)	C271S	possibly damaging	Het
Zfp397	A	G	18: 24,090,122 (GRCm39)	N142S	probably benign	Het
Zfy1	A	T	Y: 725,788 (GRCm39)	V659E	probably damaging	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
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
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'- CTGGATCTTGTTCCCCACAG -3'
(R):5'- CAAGAGTGTCATAGCACACCTG -3'

Sequencing Primer
(F):5'- AATGGGCCTGCTCCGACTTC -3'
(R):5'- CTGTTGACAAGTAGCACC -3'

Posted On

2019-05-15