Incidental Mutation 'R0257:Ahsg'
ID 177945
Institutional Source Beutler Lab
Gene Symbol Ahsg
Ensembl Gene ENSMUSG00000022868
Gene Name alpha-2-HS-glycoprotein
Synonyms fetuin-A
MMRRC Submission 038488-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0257 (G1)
Quality Score 60
Status Validated
Chromosome 16
Chromosomal Location 22710793-22718193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22717790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 256 (M256L)
Ref Sequence ENSEMBL: ENSMUSP00000156219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023583] [ENSMUST00000231328] [ENSMUST00000231848] [ENSMUST00000231932] [ENSMUST00000232098] [ENSMUST00000232674]
AlphaFold P29699
Predicted Effect probably benign
Transcript: ENSMUST00000023583
AA Change: M335L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023583
Gene: ENSMUSG00000022868
AA Change: M335L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
CY 22 133 8.6e-24 SMART
CY 145 248 6.58e-20 SMART
low complexity region 273 288 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231328
AA Change: M291L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231692
Predicted Effect probably benign
Transcript: ENSMUST00000231848
AA Change: M284L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000231932
Predicted Effect probably benign
Transcript: ENSMUST00000232098
AA Change: M256L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232377
Predicted Effect probably benign
Transcript: ENSMUST00000232674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232556
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.2%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking this gene exhibit defective inhibition of serum apatite formation, sometimes causing muscle calcification. They are resistant to weight gain on a high-fat diet and have increased insulin sensitivity and glucose clearance and reduced fasting plasma free fatty acids and triglycerides. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T A 11: 84,401,107 (GRCm39) E171D probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adgre5 T A 8: 84,458,624 (GRCm39) H134L possibly damaging Het
Alk A T 17: 72,910,490 (GRCm39) L72Q probably damaging Het
Ano2 C A 6: 125,857,676 (GRCm39) A505E probably benign Het
Bcas3 A G 11: 85,712,865 (GRCm39) K908E probably benign Het
C3ar1 A G 6: 122,827,746 (GRCm39) V157A probably benign Het
Car2 C G 3: 14,965,037 (GRCm39) H224D probably benign Het
Cfh T C 1: 140,071,773 (GRCm39) D287G probably benign Het
Disp3 G T 4: 148,335,211 (GRCm39) N944K possibly damaging Het
Dlg1 A G 16: 31,661,671 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,708,123 (GRCm39) E1281G probably damaging Het
Dmxl1 T A 18: 50,088,870 (GRCm39) probably benign Het
Dtx3 T C 10: 127,028,761 (GRCm39) D159G probably benign Het
Ets2 T A 16: 95,513,245 (GRCm39) C140* probably null Het
Fbf1 T C 11: 116,045,917 (GRCm39) I226V probably benign Het
Fgd6 T A 10: 93,879,777 (GRCm39) H210Q probably benign Het
Fktn A G 4: 53,734,898 (GRCm39) T179A probably benign Het
Galnt10 T C 11: 57,671,904 (GRCm39) M398T probably damaging Het
Grk5 G T 19: 61,065,068 (GRCm39) probably benign Het
Gse1 A G 8: 121,299,073 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,259,176 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,861,052 (GRCm39) probably null Het
Lama4 T C 10: 38,970,880 (GRCm39) probably benign Het
Luzp2 A G 7: 54,899,194 (GRCm39) T271A probably benign Het
Mdn1 T A 4: 32,693,534 (GRCm39) V1053D probably damaging Het
Mrm1 A C 11: 84,705,649 (GRCm39) probably benign Het
Msh5 G C 17: 35,251,840 (GRCm39) R407G probably damaging Het
Myo1c A T 11: 75,556,342 (GRCm39) probably null Het
Nek5 T C 8: 22,613,688 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,540,728 (GRCm39) I894V possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Pde4a C T 9: 21,103,717 (GRCm39) P175L probably damaging Het
Pip5k1c C A 10: 81,150,930 (GRCm39) A628E possibly damaging Het
Piwil2 C T 14: 70,660,080 (GRCm39) S139N probably benign Het
Prob1 T C 18: 35,786,092 (GRCm39) K721E possibly damaging Het
Rps6ka2 C A 17: 7,495,382 (GRCm39) S57Y probably damaging Het
Rxfp1 C T 3: 79,589,842 (GRCm39) V100M possibly damaging Het
Serpinb9e A T 13: 33,441,664 (GRCm39) M199L probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc4a8 G A 15: 100,682,761 (GRCm39) probably benign Het
Sned1 A T 1: 93,192,819 (GRCm39) S369C possibly damaging Het
St18 T A 1: 6,890,186 (GRCm39) F539L probably benign Het
Stam2 C T 2: 52,584,794 (GRCm39) G500D possibly damaging Het
Stx16 G A 2: 173,938,754 (GRCm39) V307M probably benign Het
Svep1 G A 4: 58,179,610 (GRCm39) S211L possibly damaging Het
Tcf12 C T 9: 71,765,904 (GRCm39) S512N probably benign Het
Tiam2 T C 17: 3,501,088 (GRCm39) V909A possibly damaging Het
Tmem64 C T 4: 15,266,343 (GRCm39) A131V probably damaging Het
Tnrc6b C A 15: 80,778,556 (GRCm39) N1176K possibly damaging Het
Trrap C T 5: 144,741,045 (GRCm39) S1264L probably benign Het
Ttn T A 2: 76,640,775 (GRCm39) T13658S possibly damaging Het
Vmn2r104 G A 17: 20,249,889 (GRCm39) T794I probably damaging Het
Vmn2r52 T A 7: 9,904,982 (GRCm39) R286* probably null Het
Vps53 A T 11: 76,068,211 (GRCm39) probably benign Het
Wdr18 A G 10: 79,796,953 (GRCm39) probably benign Het
Wdr31 A G 4: 62,378,755 (GRCm39) probably null Het
Zfp458 T A 13: 67,407,706 (GRCm39) K47* probably null Het
Zfp983 A G 17: 21,880,356 (GRCm39) T95A probably benign Het
Other mutations in Ahsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01830:Ahsg APN 16 22,717,779 (GRCm39) missense probably damaging 1.00
IGL01885:Ahsg APN 16 22,717,731 (GRCm39) missense probably damaging 1.00
IGL02208:Ahsg APN 16 22,711,060 (GRCm39) missense possibly damaging 0.89
IGL02593:Ahsg APN 16 22,711,078 (GRCm39) critical splice donor site probably null
IGL03059:Ahsg APN 16 22,717,755 (GRCm39) missense possibly damaging 0.57
R0615:Ahsg UTSW 16 22,717,805 (GRCm39) missense possibly damaging 0.92
R1829:Ahsg UTSW 16 22,711,078 (GRCm39) unclassified probably benign
R5034:Ahsg UTSW 16 22,717,650 (GRCm39) missense probably damaging 1.00
R5149:Ahsg UTSW 16 22,717,673 (GRCm39) missense probably benign 0.02
R5670:Ahsg UTSW 16 22,716,913 (GRCm39) missense probably benign
R6264:Ahsg UTSW 16 22,717,611 (GRCm39) missense probably benign 0.00
R6788:Ahsg UTSW 16 22,713,585 (GRCm39) missense probably benign 0.01
R7026:Ahsg UTSW 16 22,710,963 (GRCm39) missense probably damaging 1.00
R7027:Ahsg UTSW 16 22,711,007 (GRCm39) missense probably damaging 0.99
R9055:Ahsg UTSW 16 22,711,069 (GRCm39) missense possibly damaging 0.51
X0060:Ahsg UTSW 16 22,714,012 (GRCm39) missense probably damaging 1.00
Z1177:Ahsg UTSW 16 22,717,797 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCATTACTGCAAGGGACTGTAACC -3'
(R):5'- GAAGAGACCTGGAATTCGAGCTGTG -3'

Sequencing Primer
(F):5'- GGATTCCTGTCATGGAAAACC -3'
(R):5'- CTGGAATTCGAGCTGTGATGTG -3'
Posted On 2014-05-06