Incidental Mutation 'R5690:Fetub'
ID 443650
Institutional Source Beutler Lab
Gene Symbol Fetub
Ensembl Gene ENSMUSG00000022871
Gene Name fetuin beta
Synonyms 2310011O17Rik, D17980
MMRRC Submission 043323-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5690 (G1)
Quality Score 225
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: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,759,144 (GRCm39) probably benign Het
Acadl T C 1: 66,892,445 (GRCm39) Y126C probably damaging Het
Ak6 A G 13: 100,792,129 (GRCm39) probably null Het
Ap1s1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 5: 137,066,233 (GRCm39) probably benign Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Atp6v1e1 A T 6: 120,785,317 (GRCm39) probably null Het
Axin1 A G 17: 26,413,911 (GRCm39) Y792C probably damaging Het
C1s2 T C 6: 124,607,996 (GRCm39) N233S probably benign Het
Ccer2 C A 7: 28,455,629 (GRCm39) probably benign Het
Cfap46 A G 7: 139,218,269 (GRCm39) S1481P probably benign Het
Cspg4 A T 9: 56,806,019 (GRCm39) T2277S probably benign Het
Ctsl T A 13: 64,513,022 (GRCm39) N300I probably damaging Het
Dnah2 T C 11: 69,382,370 (GRCm39) I1247V probably benign Het
Dsg3 A T 18: 20,655,108 (GRCm39) Q135L probably benign Het
Efcab14 G A 4: 115,617,244 (GRCm39) V318M possibly damaging Het
Etl4 G A 2: 20,810,647 (GRCm39) S910N probably benign Het
Frmd4b T C 6: 97,330,164 (GRCm39) E133G possibly damaging Het
Herc2 T C 7: 55,807,453 (GRCm39) F2514S probably benign Het
Il18rap A G 1: 40,576,272 (GRCm39) D261G possibly damaging Het
Klk1b16 A G 7: 43,790,318 (GRCm39) probably null Het
Lrp1b A C 2: 40,640,906 (GRCm39) probably null Het
Mrpl45 C A 11: 97,212,412 (GRCm39) probably benign Het
Myh13 A G 11: 67,220,101 (GRCm39) E150G probably damaging Het
Nbas T A 12: 13,386,285 (GRCm39) V737D probably damaging Het
Ncr1 T C 7: 4,341,296 (GRCm39) Y59H probably damaging Het
Nt5c1a T A 4: 123,109,732 (GRCm39) V277E probably damaging Het
Ogfod1 T A 8: 94,784,769 (GRCm39) S343T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pnpla1 A T 17: 29,097,346 (GRCm39) I171F probably damaging Het
Rab5if G A 2: 156,707,234 (GRCm39) V58I probably benign Het
Rdh8 A G 9: 20,736,785 (GRCm39) N259S probably damaging Het
Resf1 T C 6: 149,229,735 (GRCm39) L927S possibly damaging Het
Slc22a12 A G 19: 6,586,878 (GRCm39) M496T probably benign Het
Slc8b1 G A 5: 120,651,270 (GRCm39) W10* probably null Het
Smarcc2 G A 10: 128,320,276 (GRCm39) G887S probably damaging Het
Smc1b A G 15: 84,996,974 (GRCm39) S549P probably damaging Het
Synj2 A G 17: 6,085,802 (GRCm39) M1181V probably benign Het
Tbx15 T C 3: 99,216,166 (GRCm39) S76P probably damaging Het
Tbx2 A T 11: 85,727,879 (GRCm39) I271F probably damaging Het
Thap4 A G 1: 93,644,352 (GRCm39) probably null Het
Tmc2 A G 2: 130,074,306 (GRCm39) Y333C probably damaging Het
Trcg1 C T 9: 57,149,094 (GRCm39) P222L probably benign Het
Tubb3 T C 8: 124,148,045 (GRCm39) V326A probably benign Het
Unc80 A C 1: 66,679,731 (GRCm39) I2101L probably benign Het
Vmn1r19 T C 6: 57,381,780 (GRCm39) L111S probably benign Het
Vps16 C T 2: 130,281,011 (GRCm39) Q226* probably null Het
Xpo4 T C 14: 57,828,446 (GRCm39) I805V probably benign 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
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'- ATGCTAAAGAGTTCTCCCCAC -3'
(R):5'- TGACTTAGGAAGGCTGTCCC -3'

Sequencing Primer
(F):5'- ACACAGAACTGGATTTAAGTTTCAC -3'
(R):5'- TGTCCCCTGGGAGGAGAAGTATG -3'
Posted On 2016-11-09