Incidental Mutation 'R6039:Fetub'
ID 501765
Institutional Source Beutler Lab
Gene Symbol Fetub
Ensembl Gene ENSMUSG00000022871
Gene Name fetuin beta
Synonyms 2310011O17Rik, D17980
MMRRC Submission 043259-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6039 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
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

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 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

DomainStartEndE-ValueType
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

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 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

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 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 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 98.9%
  • 10x: 92.2%
  • 20x: 71.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C T 6: 92,885,527 (GRCm39) R416Q possibly damaging Het
Adgre1 C A 17: 57,713,859 (GRCm39) D181E probably benign Het
Arhgap24 T C 5: 103,028,652 (GRCm39) S183P probably damaging Het
Asb1 T C 1: 91,474,748 (GRCm39) L90P probably damaging Het
Bmp3 T C 5: 99,020,209 (GRCm39) F211L probably benign Het
C8a A G 4: 104,703,139 (GRCm39) I306T probably benign Het
Cdkn3 G A 14: 47,007,373 (GRCm39) G177R probably damaging Het
Chat A G 14: 32,170,984 (GRCm39) S172P probably damaging Het
Chd5 CAAGAAGAAGAAGAAGAA CAAGAAGAAGAAGAA 4: 152,438,078 (GRCm39) probably benign Het
Cyp4a12a T C 4: 115,184,420 (GRCm39) I265T probably damaging Het
Dlst T A 12: 85,165,664 (GRCm39) probably null Het
Dnmt1 A T 9: 20,837,716 (GRCm39) probably benign Het
Fbn1 C T 2: 125,205,800 (GRCm39) E1066K probably damaging Het
Fstl1 T A 16: 37,641,538 (GRCm39) S105T probably benign Het
Gm19410 C G 8: 36,276,518 (GRCm39) A1725G probably benign Het
Hspb7 A G 4: 141,151,215 (GRCm39) N119S probably damaging Het
Il20 T A 1: 130,838,478 (GRCm39) D73V possibly damaging Het
Insrr T C 3: 87,716,608 (GRCm39) I612T possibly damaging Het
Kcnma1 T C 14: 23,359,105 (GRCm39) Y1107C probably benign Het
Klhl32 A G 4: 24,792,615 (GRCm39) probably null Het
Krt77 C A 15: 101,769,351 (GRCm39) R470L possibly damaging Het
Muc1 T C 3: 89,139,336 (GRCm39) Y579H probably damaging Het
Myof T C 19: 37,966,132 (GRCm39) D396G probably damaging Het
Myom1 T G 17: 71,417,746 (GRCm39) D1316E probably damaging Het
Nbea T C 3: 55,912,538 (GRCm39) E1083G probably benign Het
Nek9 G A 12: 85,359,859 (GRCm39) A531V probably benign Het
Nlrp12 A T 7: 3,290,002 (GRCm39) I170N possibly damaging Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Ovch2 G A 7: 107,388,318 (GRCm39) L421F probably damaging Het
Paqr4 T C 17: 23,958,968 (GRCm39) D11G probably damaging Het
Parp8 A G 13: 117,014,134 (GRCm39) S561P probably damaging Het
Pcgf5 T A 19: 36,420,306 (GRCm39) F179L probably damaging Het
Pde4d A T 13: 110,084,876 (GRCm39) Q422L probably damaging Het
Pigs T A 11: 78,232,651 (GRCm39) V495E probably damaging Het
Polh C T 17: 46,498,959 (GRCm39) R252H probably benign Het
Psg28 T C 7: 18,160,107 (GRCm39) D363G possibly damaging Het
Ptgir A T 7: 16,640,815 (GRCm39) I36F possibly damaging Het
Ptprr G A 10: 116,072,668 (GRCm39) probably null Het
Rax C T 18: 66,068,418 (GRCm39) G229D unknown Het
Secisbp2l T A 2: 125,615,136 (GRCm39) H163L probably benign Het
Sf3a2 A G 10: 80,637,297 (GRCm39) Y45C probably damaging Het
Sgo2a C T 1: 58,055,775 (GRCm39) T653I possibly damaging Het
Slc38a9 A T 13: 112,806,231 (GRCm39) I26F probably damaging Het
Slc5a8 A G 10: 88,722,436 (GRCm39) I90V probably benign Het
Slx4 G A 16: 3,803,911 (GRCm39) H968Y possibly damaging Het
Stam2 T C 2: 52,599,611 (GRCm39) T233A probably benign Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Trav4-2 G A 14: 53,655,866 (GRCm39) V8M possibly damaging Het
Ttll5 T A 12: 85,878,729 (GRCm39) H45Q probably damaging Het
Ttn C T 2: 76,714,762 (GRCm39) probably benign Het
Ush2a T A 1: 188,051,217 (GRCm39) F234L possibly damaging Het
Vmn2r74 T A 7: 85,607,526 (GRCm39) probably null Het
Wdr6 CTG C 9: 108,450,994 (GRCm39) probably null Het
Zfp644 A G 5: 106,783,291 (GRCm39) S997P possibly damaging Het
Zfp853 G A 5: 143,274,529 (GRCm39) Q364* probably null 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
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
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 2017-12-01