Incidental Mutation 'IGL00777:Hgd'
ID11254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hgd
Ensembl Gene ENSMUSG00000022821
Gene Namehomogentisate 1, 2-dioxygenase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00777
Quality Score
Status
Chromosome16
Chromosomal Location37580153-37632020 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37613249 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 77 (T77A)
Ref Sequence ENSEMBL: ENSMUSP00000156254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159787] [ENSMUST00000160847]
Predicted Effect probably damaging
Transcript: ENSMUST00000159787
AA Change: T77A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000160847
AA Change: T118A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: T118A

DomainStartEndE-ValueType
Pfam:HgmA 5 434 2e-225 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162918
Coding Region Coverage
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik C A 1: 26,682,092 D1336Y probably damaging Het
Adgra3 A G 5: 50,025,758 I82T probably damaging Het
Cd72 T C 4: 43,448,365 Y305C possibly damaging Het
Cldn34c1 T C X: 123,142,873 L103P probably damaging Het
Dhtkd1 A T 2: 5,929,657 L234H probably damaging Het
Hist1h1e T A 13: 23,622,022 probably benign Het
Itgad A T 7: 128,203,850 T1059S probably damaging Het
Klhl20 T C 1: 161,109,755 T17A probably benign Het
Lct T C 1: 128,287,556 D1761G probably benign Het
Mmp23 T G 4: 155,651,007 Y334S possibly damaging Het
Ncapg A G 5: 45,695,765 S858G possibly damaging Het
Nsd1 G A 13: 55,238,735 G101E probably damaging Het
Pdia3 T A 2: 121,429,556 L192Q probably damaging Het
Phex A G X: 157,177,532 L672P probably damaging Het
Reln A G 5: 22,018,850 probably null Het
Rfk T A 19: 17,395,336 V74E probably benign Het
Rubcn A G 16: 32,836,563 C467R probably damaging Het
Rufy2 G A 10: 62,991,054 C124Y probably damaging Het
Slc8a1 A G 17: 81,648,580 I343T probably damaging Het
Smyd4 T A 11: 75,390,808 M369K probably benign Het
Tmem131l G T 3: 83,899,290 P1408T probably damaging Het
Tmprss11f A G 5: 86,524,065 Y423H probably damaging Het
Wdr70 A T 15: 8,019,607 M303K probably benign Het
Other mutations in Hgd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00851:Hgd APN 16 37631695 missense probably damaging 0.98
IGL01339:Hgd APN 16 37631730 missense possibly damaging 0.72
IGL01627:Hgd APN 16 37621925 missense probably damaging 0.96
IGL02565:Hgd APN 16 37615387 missense possibly damaging 0.88
IGL03098:Hgd UTSW 16 37616245 missense probably benign 0.44
R0346:Hgd UTSW 16 37588774 splice site probably benign
R0360:Hgd UTSW 16 37611184 splice site probably benign
R0426:Hgd UTSW 16 37588685 splice site probably benign
R0799:Hgd UTSW 16 37628609 splice site probably benign
R1178:Hgd UTSW 16 37615394 missense possibly damaging 0.95
R2921:Hgd UTSW 16 37618968 missense probably damaging 1.00
R2922:Hgd UTSW 16 37618968 missense probably damaging 1.00
R4791:Hgd UTSW 16 37631825 makesense probably null
R4859:Hgd UTSW 16 37588749 missense probably damaging 1.00
R5289:Hgd UTSW 16 37628551 missense possibly damaging 0.94
R5368:Hgd UTSW 16 37589751 missense probably benign 0.33
R5779:Hgd UTSW 16 37593371 missense probably benign 0.01
R6140:Hgd UTSW 16 37589713 missense probably benign 0.04
R6160:Hgd UTSW 16 37613298 missense probably damaging 1.00
R6636:Hgd UTSW 16 37615374 missense possibly damaging 0.75
R7196:Hgd UTSW 16 37588716 missense probably benign 0.03
R7450:Hgd UTSW 16 37624324 missense possibly damaging 0.88
R7580:Hgd UTSW 16 37618879 missense possibly damaging 0.67
R7720:Hgd UTSW 16 37593435 missense probably benign
Z1177:Hgd UTSW 16 37589719 missense probably damaging 1.00
Posted On2012-12-06