Incidental Mutation 'R0604:Fetub'
ID 55604
Institutional Source Beutler Lab
Gene Symbol Fetub
Ensembl Gene ENSMUSG00000022871
Gene Name fetuin beta
Synonyms 2310011O17Rik, D17980
MMRRC Submission 038793-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0604 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 22737132-22758518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22754410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 126 (Y126H)
Ref Sequence ENSEMBL: ENSMUSP00000112324 (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: Y206H

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023587
Gene: ENSMUSG00000022871
AA Change: Y206H

DomainStartEndE-ValueType
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: Y126H

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112324
Gene: ENSMUSG00000022871
AA Change: Y126H

DomainStartEndE-ValueType
Blast:CY 1 61 4e-33 BLAST
CY 73 175 1.77e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000167399
AA Change: Y206H

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128745
Gene: ENSMUSG00000022871
AA Change: Y206H

DomainStartEndE-ValueType
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: Y206H

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128989
Gene: ENSMUSG00000022871
AA Change: Y206H

DomainStartEndE-ValueType
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: Y206H

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231880
AA Change: Y126H

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232097
AA Change: Y206H

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,775,451 (GRCm39) E302G probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adrb2 G A 18: 62,311,586 (GRCm39) T413I possibly damaging Het
Aqr T C 2: 113,961,085 (GRCm39) K725R probably benign Het
Braf A G 6: 39,600,631 (GRCm39) I662T probably damaging Het
Ccdc178 A G 18: 22,200,500 (GRCm39) S435P probably benign Het
Chd9 A G 8: 91,763,170 (GRCm39) M2332V possibly damaging Het
Clgn T C 8: 84,150,823 (GRCm39) V496A probably benign Het
Dnah17 A C 11: 118,012,297 (GRCm39) S193R probably benign Het
Dntt A G 19: 41,041,588 (GRCm39) E424G probably benign Het
Fam149a A G 8: 45,798,045 (GRCm39) L492P probably damaging Het
Fgfr3 A T 5: 33,890,126 (GRCm39) Y96F probably damaging Het
Gm4952 A G 19: 12,602,036 (GRCm39) E148G probably benign Het
Gucy2g T A 19: 55,191,519 (GRCm39) L977F probably benign Het
Il1r1 T C 1: 40,321,406 (GRCm39) V6A probably benign Het
Itsn2 C A 12: 4,708,189 (GRCm39) Q832K probably benign Het
Lats1 T A 10: 7,588,425 (GRCm39) F1014Y probably damaging Het
Mcc G A 18: 44,606,823 (GRCm39) A536V probably damaging Het
Mtrf1 T C 14: 79,653,327 (GRCm39) V334A possibly damaging Het
Or1j21 T A 2: 36,684,119 (GRCm39) Y290* probably null Het
Or2t46 T A 11: 58,472,174 (GRCm39) M168K probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or4p18 T C 2: 88,232,727 (GRCm39) T184A probably benign Het
Pard6g A G 18: 80,160,423 (GRCm39) S179G probably damaging Het
Pierce1 C A 2: 28,356,103 (GRCm39) R60L possibly damaging Het
Polr3a G A 14: 24,534,232 (GRCm39) P91L probably damaging Het
Psg27 A T 7: 18,290,997 (GRCm39) V402D probably damaging Het
Rttn A G 18: 88,995,882 (GRCm39) I222V probably damaging Het
Sp9 T A 2: 73,103,982 (GRCm39) S179T probably benign Het
Tbc1d8 T A 1: 39,444,407 (GRCm39) H184L probably damaging Het
Vmn1r69 A G 7: 10,314,581 (GRCm39) V50A probably benign Het
Vmn2r58 A G 7: 41,510,000 (GRCm39) F526L possibly damaging Het
Other mutations in Fetub
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 PCR Primer
(F):5'- TGTGGGGACTTCAGGAACAGTGAAC -3'
(R):5'- TTGCCCAGTGGTGCTCAAACACAC -3'

Sequencing Primer
(F):5'- TTCAGGAACAGTGAACTTGGGTG -3'
(R):5'- ACTCACCTCAGAGTCAGAGT -3'
Posted On 2013-07-11