Incidental Mutation 'R5779:Hgd'
ID 446897
Institutional Source Beutler Lab
Gene Symbol Hgd
Ensembl Gene ENSMUSG00000022821
Gene Name homogentisate 1, 2-dioxygenase
Synonyms
MMRRC Submission 043377-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5779 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 37400515-37452382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37413733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 24 (L24H)
Ref Sequence ENSEMBL: ENSMUSP00000156254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159787] [ENSMUST00000160847]
AlphaFold O09173
Predicted Effect probably benign
Transcript: ENSMUST00000159787
AA Change: L24H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000160847
AA Change: L65H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: L65H

DomainStartEndE-ValueType
Pfam:HgmA 5 434 2e-225 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231668
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 88% (52/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
PHENOTYPE: Mutations in this gene result in high levels of urinary homogentisic acid. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,075,496 (GRCm39) M1332V probably benign Het
Acsbg3 A T 17: 57,188,061 (GRCm39) N190Y probably benign Het
Afg3l2 T C 18: 67,573,513 (GRCm39) K132R probably null Het
Antkmt A G 17: 26,009,631 (GRCm39) V194A probably benign Het
Arap3 T C 18: 38,117,418 (GRCm39) D886G probably damaging Het
B3gntl1 G T 11: 121,542,502 (GRCm39) probably null Het
Cdk12 T A 11: 98,109,900 (GRCm39) S640R probably benign Het
Ceacam12 C A 7: 17,803,079 (GRCm39) P162T probably benign Het
Chrna5 C A 9: 54,905,388 (GRCm39) H67N probably benign Het
Copb1 T A 7: 113,818,807 (GRCm39) D837V probably damaging Het
Dcaf5 C T 12: 80,385,606 (GRCm39) R840H probably benign Het
Ect2l T A 10: 18,039,186 (GRCm39) Q324L probably benign Het
Eef1e1 T C 13: 38,830,249 (GRCm39) N141S probably damaging Het
Eif2ak4 A C 2: 118,243,444 (GRCm39) N208T possibly damaging Het
Ext1 A G 15: 53,207,949 (GRCm39) Y271H probably damaging Het
Fbxo5 G A 10: 5,750,303 (GRCm39) R323C possibly damaging Het
Fpr-rs3 C A 17: 20,844,488 (GRCm39) A218S possibly damaging Het
Gm20499 G A 5: 114,955,082 (GRCm39) probably benign Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Gucy1b2 C A 14: 62,651,750 (GRCm39) L400F possibly damaging Het
Hmx3 C A 7: 131,146,057 (GRCm39) S255* probably null Het
Ifrd1 A T 12: 40,253,369 (GRCm39) F448I probably damaging Het
Igfn1 T A 1: 135,894,578 (GRCm39) E1996V probably benign Het
Itpr1 G A 6: 108,329,104 (GRCm39) G173R probably damaging Het
Kbtbd8 T C 6: 95,095,515 (GRCm39) S26P probably benign Het
Kctd17 A T 15: 78,321,333 (GRCm39) probably benign Het
Matr3 T C 18: 35,717,575 (GRCm39) S258P possibly damaging Het
Mpp4 G A 1: 59,190,825 (GRCm39) A90V probably benign Het
Mrpl20 G A 4: 155,891,378 (GRCm39) R34Q probably damaging Het
Neb A T 2: 52,135,313 (GRCm39) S3266T probably damaging Het
Nipal3 A G 4: 135,179,650 (GRCm39) probably benign Het
Npas2 A T 1: 39,326,652 (GRCm39) T46S possibly damaging Het
Nsd3 G T 8: 26,172,685 (GRCm39) E815* probably null Het
Nup98 C A 7: 101,801,568 (GRCm39) V786L probably benign Het
Or4k2 A T 14: 50,424,203 (GRCm39) M157K possibly damaging Het
Pcdhb3 T C 18: 37,434,520 (GRCm39) V162A probably benign Het
Pcgf2 G A 11: 97,581,117 (GRCm39) P58L probably damaging Het
Penk A G 4: 4,134,318 (GRCm39) F110L probably damaging Het
Relch T G 1: 105,615,072 (GRCm39) N246K probably damaging Het
Scfd1 A G 12: 51,478,312 (GRCm39) N508S probably benign Het
Scn2a T C 2: 65,594,827 (GRCm39) V1892A probably benign Het
Sema6a G A 18: 47,381,893 (GRCm39) R885C probably damaging Het
Sik2 T C 9: 50,807,145 (GRCm39) H755R probably benign Het
Slc36a3 A T 11: 55,026,094 (GRCm39) Y241* probably null Het
Smg5 T C 3: 88,258,925 (GRCm39) probably benign Het
Spag9 A G 11: 94,005,079 (GRCm39) T1049A probably benign Het
Tas2r103 T C 6: 133,013,908 (GRCm39) M53V probably benign Het
Tpr C T 1: 150,299,292 (GRCm39) A1090V probably damaging Het
Traf5 T A 1: 191,729,633 (GRCm39) R473W probably damaging Het
Ush2a T C 1: 188,175,707 (GRCm39) probably null Het
Vit A G 17: 78,853,855 (GRCm39) T34A probably benign Het
Other mutations in Hgd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Hgd APN 16 37,433,611 (GRCm39) missense probably damaging 1.00
IGL00851:Hgd APN 16 37,452,057 (GRCm39) missense probably damaging 0.98
IGL01339:Hgd APN 16 37,452,092 (GRCm39) missense possibly damaging 0.72
IGL01627:Hgd APN 16 37,442,287 (GRCm39) missense probably damaging 0.96
IGL02565:Hgd APN 16 37,435,749 (GRCm39) missense possibly damaging 0.88
IGL03098:Hgd UTSW 16 37,436,607 (GRCm39) missense probably benign 0.44
R0346:Hgd UTSW 16 37,409,136 (GRCm39) splice site probably benign
R0360:Hgd UTSW 16 37,431,546 (GRCm39) splice site probably benign
R0426:Hgd UTSW 16 37,409,047 (GRCm39) splice site probably benign
R0799:Hgd UTSW 16 37,448,971 (GRCm39) splice site probably benign
R1178:Hgd UTSW 16 37,435,756 (GRCm39) missense possibly damaging 0.95
R2921:Hgd UTSW 16 37,439,330 (GRCm39) missense probably damaging 1.00
R2922:Hgd UTSW 16 37,439,330 (GRCm39) missense probably damaging 1.00
R4791:Hgd UTSW 16 37,452,187 (GRCm39) makesense probably null
R4859:Hgd UTSW 16 37,409,111 (GRCm39) missense probably damaging 1.00
R5289:Hgd UTSW 16 37,448,913 (GRCm39) missense possibly damaging 0.94
R5368:Hgd UTSW 16 37,410,113 (GRCm39) missense probably benign 0.33
R6140:Hgd UTSW 16 37,410,075 (GRCm39) missense probably benign 0.04
R6160:Hgd UTSW 16 37,433,660 (GRCm39) missense probably damaging 1.00
R6636:Hgd UTSW 16 37,435,736 (GRCm39) missense possibly damaging 0.75
R7196:Hgd UTSW 16 37,409,078 (GRCm39) missense probably benign 0.03
R7450:Hgd UTSW 16 37,444,686 (GRCm39) missense possibly damaging 0.88
R7580:Hgd UTSW 16 37,439,241 (GRCm39) missense possibly damaging 0.67
R7720:Hgd UTSW 16 37,413,797 (GRCm39) missense probably benign
R8966:Hgd UTSW 16 37,431,532 (GRCm39) missense probably damaging 0.98
R9486:Hgd UTSW 16 37,413,811 (GRCm39) missense probably benign 0.34
Z1177:Hgd UTSW 16 37,410,081 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGCCTGAAGAGCAATGG -3'
(R):5'- AGTTTTCAATAACTTTGGCCCCAG -3'

Sequencing Primer
(F):5'- GTTACAGCCAGGAGACATTACTG -3'
(R):5'- AACTTTGGCCCCAGTGTAAG -3'
Posted On 2016-12-15