Incidental Mutation 'R2921:Hgd'
ID 255550
Institutional Source Beutler Lab
Gene Symbol Hgd
Ensembl Gene ENSMUSG00000022821
Gene Name homogentisate 1, 2-dioxygenase
Synonyms
MMRRC Submission 040506-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2921 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 37400515-37452382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37439330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 213 (F213L)
Ref Sequence ENSEMBL: ENSMUSP00000156254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159787] [ENSMUST00000160847]
AlphaFold O09173
Predicted Effect probably damaging
Transcript: ENSMUST00000159787
AA Change: F213L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159938
Predicted Effect probably damaging
Transcript: ENSMUST00000160847
AA Change: F254L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: F254L

DomainStartEndE-ValueType
Pfam:HgmA 5 434 2e-225 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162918
Meta Mutation Damage Score 0.9253 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 90,009,393 (GRCm39) D90G possibly damaging Het
Adipor1 T C 1: 134,353,731 (GRCm39) V172A possibly damaging Het
Akt2 A G 7: 27,328,411 (GRCm39) K146R probably benign Het
Atg4a T C X: 139,941,768 (GRCm39) V284A possibly damaging Het
Atp6v0a2 C T 5: 124,794,981 (GRCm39) T656M possibly damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Ccdc116 T C 16: 16,960,307 (GRCm39) H170R probably benign Het
Ccn5 G A 2: 163,674,266 (GRCm39) R222Q probably benign Het
Cemip2 A G 19: 21,795,303 (GRCm39) D732G possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dpm3 C T 3: 89,174,062 (GRCm39) L8F probably damaging Het
Fhl3 T C 4: 124,599,463 (GRCm39) S13P probably damaging Het
Fndc1 A G 17: 8,023,707 (GRCm39) S83P probably damaging Het
Gapvd1 A T 2: 34,578,875 (GRCm39) I1249N probably damaging Het
Gbp7 A T 3: 142,240,333 (GRCm39) E17V probably benign Het
Gm57858 T C 3: 36,080,077 (GRCm39) M227V probably null Het
Golga4 T A 9: 118,388,411 (GRCm39) S1844R possibly damaging Het
Grm7 T A 6: 111,472,866 (GRCm39) probably null Het
Hdc G A 2: 126,435,910 (GRCm39) P654S probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Mboat2 T A 12: 25,004,239 (GRCm39) W347R probably damaging Het
Mlkl T C 8: 112,043,079 (GRCm39) E356G probably benign Het
Ncor2 A G 5: 125,132,855 (GRCm39) F44S probably damaging Het
Nipal3 A T 4: 135,204,776 (GRCm39) I125N probably damaging Het
Nr1h4 A T 10: 89,334,223 (GRCm39) Y42N probably damaging Het
Nup155 A C 15: 8,183,125 (GRCm39) E1228D probably damaging Het
Or4c113 A G 2: 88,884,843 (GRCm39) V309A probably benign Het
Pde4dip T C 3: 97,626,885 (GRCm39) N1218D probably benign Het
Ralgps1 A T 2: 33,033,082 (GRCm39) I449N probably damaging Het
Rdm1 T A 11: 101,521,716 (GRCm39) L157H possibly damaging Het
Rfx7 G A 9: 72,524,946 (GRCm39) G712D possibly damaging Het
Rnf151 C T 17: 24,935,235 (GRCm39) G232D possibly damaging Het
Rpl22 C A 4: 152,412,002 (GRCm39) T26N possibly damaging Het
Rptn A G 3: 93,306,015 (GRCm39) Y1116C possibly damaging Het
Safb2 A G 17: 56,875,906 (GRCm39) V89A possibly damaging Het
Setx TGTGG TG 2: 29,044,072 (GRCm39) probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc24a2 A G 4: 86,909,591 (GRCm39) V660A possibly damaging Het
Slc26a2 T A 18: 61,335,007 (GRCm39) I149F probably damaging Het
Slc6a15 A G 10: 103,254,248 (GRCm39) D728G probably damaging Het
Slfn3 A G 11: 83,105,871 (GRCm39) M623V probably benign Het
Smim1 A G 4: 154,108,097 (GRCm39) probably benign Het
Spatc1 T C 15: 76,168,125 (GRCm39) S195P probably damaging Het
Tmx1 T A 12: 70,512,895 (GRCm39) C268S probably benign Het
Trpc6 A T 9: 8,653,034 (GRCm39) L613F possibly damaging Het
Vmn2r60 T A 7: 41,790,459 (GRCm39) V482E probably damaging Het
Zdhhc18 G T 4: 133,360,455 (GRCm39) H82Q probably benign Het
Zfp507 T C 7: 35,494,224 (GRCm39) E273G probably damaging 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
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
R5779:Hgd UTSW 16 37,413,733 (GRCm39) missense probably benign 0.01
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'- GCATGGCTTGTGACACAGAAG -3'
(R):5'- TGCCACATAGCACCATGAAG -3'

Sequencing Primer
(F):5'- TGACACAGAAGAAGATTCCCTTGTG -3'
(R):5'- GAAGTAATTATCACCATCTGACCTG -3'
Posted On 2014-12-29