Incidental Mutation 'R5289:Hgd'
ID 424615
Institutional Source Beutler Lab
Gene Symbol Hgd
Ensembl Gene ENSMUSG00000022821
Gene Name homogentisate 1, 2-dioxygenase
Synonyms
MMRRC Submission 042872-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5289 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 37400515-37452382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37448913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 379 (E379G)
Ref Sequence ENSEMBL: ENSMUSP00000125492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159787] [ENSMUST00000160847]
AlphaFold O09173
Predicted Effect possibly damaging
Transcript: ENSMUST00000159787
AA Change: E338G

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159938
Predicted Effect possibly damaging
Transcript: ENSMUST00000160847
AA Change: E379G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: E379G

DomainStartEndE-ValueType
Pfam:HgmA 5 434 2e-225 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,669,203 (GRCm39) V1731A probably benign Het
Ahcyl1 A G 3: 107,577,206 (GRCm39) probably null Het
Aox1 T A 1: 58,131,717 (GRCm39) M1042K probably damaging Het
Atp10d C A 5: 72,412,466 (GRCm39) Q590K probably benign Het
Atp8b1 G T 18: 64,679,158 (GRCm39) N774K possibly damaging Het
Atrnl1 C T 19: 57,645,514 (GRCm39) T458M probably damaging Het
Bltp1 C A 3: 37,054,258 (GRCm39) Q3126K probably damaging Het
Cnr1 T A 4: 33,943,910 (GRCm39) C99* probably null Het
Cnr2 A G 4: 135,644,318 (GRCm39) Y132C probably damaging Het
Commd9 C T 2: 101,729,239 (GRCm39) A115V probably benign Het
Diaph3 A G 14: 87,219,114 (GRCm39) F426S probably damaging Het
Diras1 G A 10: 80,858,078 (GRCm39) Q58* probably null Het
Dnaaf6rt A T 1: 31,262,608 (GRCm39) I197F probably benign Het
Dpy19l2 A G 9: 24,607,293 (GRCm39) L56P probably benign Het
Dsc1 A T 18: 20,234,910 (GRCm39) V248D possibly damaging Het
Frem3 A G 8: 81,338,948 (GRCm39) M414V probably benign Het
Frmd4b G T 6: 97,279,309 (GRCm39) probably null Het
Gabarapl2 T C 8: 112,669,227 (GRCm39) W62R probably damaging Het
Glt1d1 A G 5: 127,721,420 (GRCm39) R36G probably benign Het
Grb10 T C 11: 11,894,924 (GRCm39) silent Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hc A G 2: 34,886,026 (GRCm39) probably null Het
Ifi30 A T 8: 71,219,245 (GRCm39) probably benign Het
Iqgap1 T C 7: 80,388,472 (GRCm39) I842V possibly damaging Het
Iqsec3 T A 6: 121,363,659 (GRCm39) probably null Het
Kalrn A G 16: 34,072,711 (GRCm39) S724P possibly damaging Het
Lama2 C A 10: 27,088,069 (GRCm39) G903* probably null Het
Lrrc10 T C 10: 116,881,392 (GRCm39) V22A probably benign Het
Lzts3 T C 2: 130,478,021 (GRCm39) E245G probably benign Het
Man2a1 A G 17: 64,958,222 (GRCm39) T246A probably damaging Het
Mfsd13a A G 19: 46,356,719 (GRCm39) E240G probably benign Het
Mtor T C 4: 148,550,549 (GRCm39) I735T possibly damaging Het
Naa15 A T 3: 51,363,315 (GRCm39) H333L probably damaging Het
Nes C A 3: 87,885,725 (GRCm39) T1284K probably damaging Het
Nexn T G 3: 151,953,709 (GRCm39) H173P probably benign Het
Nid2 T C 14: 19,855,379 (GRCm39) V1173A possibly damaging Het
Npepps A G 11: 97,131,753 (GRCm39) probably null Het
Pgm1 T A 4: 99,824,266 (GRCm39) M313K probably damaging Het
Plag1 T A 4: 3,905,545 (GRCm39) K48N probably damaging Het
Prok1 G C 3: 107,146,935 (GRCm39) L11V probably benign Het
Ptpn9 T C 9: 56,967,347 (GRCm39) probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc38a4 A T 15: 96,908,229 (GRCm39) F171I possibly damaging Het
Sycp1 A T 3: 102,841,569 (GRCm39) N78K possibly damaging Het
Tas2r110 T C 6: 132,844,972 (GRCm39) M1T probably null Het
Thoc2l G A 5: 104,667,523 (GRCm39) V682I probably benign Het
Tmem260 G A 14: 48,724,267 (GRCm39) V182M possibly damaging Het
Tmem30a A T 9: 79,683,436 (GRCm39) N144K probably damaging Het
Vmn2r108 A G 17: 20,691,866 (GRCm39) L219P probably damaging Het
Vmn2r57 A G 7: 41,049,398 (GRCm39) S784P probably damaging Het
Vwf T C 6: 125,644,473 (GRCm39) probably benign Het
Wdr62 A C 7: 29,967,300 (GRCm39) V318G probably damaging Het
Zfp398 T A 6: 47,840,115 (GRCm39) S115T probably benign Het
Zfp62 T A 11: 49,107,975 (GRCm39) C689S probably damaging Het
Zmynd15 C G 11: 70,356,830 (GRCm39) P580R unknown 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
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'- TGAATTTGGAACATGAAGGCC -3'
(R):5'- TGCAGGCACAAATTTCTCCTC -3'

Sequencing Primer
(F):5'- CATGAAGGCCTAGAAGAGCTACTC -3'
(R):5'- CACTCCACCTCTGTGACTTTGGAG -3'
Posted On 2016-08-04