Incidental Mutation 'IGL01339:Hgd'
ID74744
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 #IGL01339
Quality Score
Status
Chromosome16
Chromosomal Location37580153-37632020 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 37631730 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 374 (T374P)
Ref Sequence ENSEMBL: ENSMUSP00000156254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159787] [ENSMUST00000160847]
Predicted Effect possibly damaging
Transcript: ENSMUST00000159787
AA Change: T374P

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159938
Predicted Effect probably benign
Transcript: ENSMUST00000160847
AA Change: T415P

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: T415P

DomainStartEndE-ValueType
Pfam:HgmA 5 434 2e-225 PFAM
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 A G 11: 120,289,512 T2565A probably damaging Het
C8a A C 4: 104,827,985 F354V probably benign Het
Cadps C T 14: 12,486,543 V876M possibly damaging Het
Chmp7 A T 14: 69,719,406 I351N probably damaging Het
Clec7a A T 6: 129,465,486 W193R probably damaging Het
Clint1 T C 11: 45,909,019 V535A probably benign Het
Clu A G 14: 65,975,588 E141G probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cntn2 A T 1: 132,518,905 probably null Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cyp2d10 C T 15: 82,403,841 A195T probably benign Het
Dnah10 G T 5: 124,777,212 K1901N probably damaging Het
Dopey1 G A 9: 86,551,677 D2329N possibly damaging Het
Eipr1 A G 12: 28,864,771 E308G probably damaging Het
Exoc4 T C 6: 33,305,400 probably benign Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbn2 T C 18: 58,113,370 T487A possibly damaging Het
Fbxo40 T C 16: 36,970,454 E98G probably damaging Het
Folh1 G A 7: 86,726,098 T527I probably damaging Het
Gls C T 1: 52,188,708 D217N probably damaging Het
Gm6994 A G 14: 77,481,178 probably benign Het
Gpr149 A T 3: 62,604,297 W94R probably damaging Het
Gpr158 A G 2: 21,369,031 D259G possibly damaging Het
Hcn2 T C 10: 79,729,068 L438P probably damaging Het
Ints3 A G 3: 90,415,156 probably null Het
Kctd5 A T 17: 24,057,775 V172E probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lrrc37a A G 11: 103,497,937 S2221P unknown Het
Ltk T A 2: 119,752,974 D310V probably damaging Het
Luzp1 T A 4: 136,542,776 M770K probably damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Mzb1 T A 18: 35,648,346 H71L probably benign Het
Necap2 G A 4: 141,074,965 T63I probably benign Het
Nefl A G 14: 68,086,482 probably benign Het
Odam G A 5: 87,885,896 probably null Het
Pcdh18 A G 3: 49,755,798 I356T probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Pde2a T C 7: 101,507,159 S593P probably benign Het
Rapgef3 A T 15: 97,758,059 L359M probably damaging Het
Rb1 T C 14: 73,264,371 probably null Het
Rbm44 A G 1: 91,168,964 I976V probably benign Het
Rdh13 A T 7: 4,427,624 S278R probably damaging Het
Rgma A G 7: 73,417,483 E256G probably damaging Het
Rnf112 A T 11: 61,450,477 D402E probably benign Het
Rnps1 T A 17: 24,422,299 D224E probably damaging Het
Scn10a C T 9: 119,622,766 V1364M probably damaging Het
Scn1a C T 2: 66,325,960 R535H probably benign Het
Scn8a A T 15: 101,032,201 D1431V probably benign Het
Setdb1 A T 3: 95,338,580 L677* probably null Het
Slc17a8 T A 10: 89,591,244 I148F probably damaging Het
Slx4ip T A 2: 137,044,055 C98* probably null Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Tcof1 T C 18: 60,818,095 probably benign Het
Tdrd3 G A 14: 87,480,794 V210I possibly damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tmod4 G A 3: 95,128,297 R252H probably benign Het
Tti1 G T 2: 158,009,130 P63Q possibly damaging Het
Tuft1 A T 3: 94,628,287 D109E probably damaging Het
Wdr63 T C 3: 146,042,836 Y841C probably benign Het
Zcchc2 T C 1: 106,029,775 S659P probably damaging Het
Other mutations in Hgd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Hgd APN 16 37613249 missense probably damaging 1.00
IGL00851:Hgd APN 16 37631695 missense probably damaging 0.98
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 not run
Posted On2013-10-07