Incidental Mutation 'IGL03374:Hpd'
ID 420432
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpd
Ensembl Gene ENSMUSG00000029445
Gene Name 4-hydroxyphenylpyruvic acid dioxygenase
Synonyms Fla, Hppd, Flp, Laf
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # IGL03374
Quality Score
Status
Chromosome 5
Chromosomal Location 123309870-123320786 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123310108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 372 (E372G)
Ref Sequence ENSEMBL: ENSMUSP00000031398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031398] [ENSMUST00000056053] [ENSMUST00000163030] [ENSMUST00000174836]
AlphaFold P49429
Predicted Effect probably damaging
Transcript: ENSMUST00000031398
AA Change: E372G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031398
Gene: ENSMUSG00000029445
AA Change: E372G

DomainStartEndE-ValueType
Pfam:Glyoxalase 18 138 5.6e-10 PFAM
Pfam:Glyoxalase_4 20 134 7.7e-10 PFAM
Pfam:Glyoxalase_2 24 147 4.5e-9 PFAM
Pfam:Glyoxalase 180 335 2.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056053
SMART Domains Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
RRM 103 176 6.41e-13 SMART
low complexity region 229 241 N/A INTRINSIC
internal_repeat_1 248 266 1.29e-7 PROSPERO
internal_repeat_1 279 296 1.29e-7 PROSPERO
low complexity region 366 381 N/A INTRINSIC
low complexity region 393 411 N/A INTRINSIC
low complexity region 422 448 N/A INTRINSIC
low complexity region 522 535 N/A INTRINSIC
low complexity region 543 557 N/A INTRINSIC
low complexity region 565 599 N/A INTRINSIC
low complexity region 650 746 N/A INTRINSIC
Blast:SET 749 976 5e-26 BLAST
low complexity region 979 992 N/A INTRINSIC
coiled coil region 1053 1088 N/A INTRINSIC
low complexity region 1136 1147 N/A INTRINSIC
coiled coil region 1190 1213 N/A INTRINSIC
low complexity region 1249 1262 N/A INTRINSIC
low complexity region 1281 1292 N/A INTRINSIC
low complexity region 1322 1383 N/A INTRINSIC
low complexity region 1402 1442 N/A INTRINSIC
low complexity region 1484 1548 N/A INTRINSIC
low complexity region 1600 1618 N/A INTRINSIC
N-SET 1692 1836 1.54e-67 SMART
SET 1846 1969 4.03e-36 SMART
PostSET 1969 1985 4.8e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144679
SMART Domains Protein: ENSMUSP00000118702
Gene: ENSMUSG00000029445

DomainStartEndE-ValueType
PDB:1SQI|B 2 89 4e-51 PDB
SCOP:d1cjxa2 3 89 3e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155092
Predicted Effect probably benign
Transcript: ENSMUST00000163030
SMART Domains Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
RRM 103 176 6.41e-13 SMART
low complexity region 229 241 N/A INTRINSIC
internal_repeat_1 248 266 1.29e-7 PROSPERO
internal_repeat_1 279 296 1.29e-7 PROSPERO
low complexity region 366 381 N/A INTRINSIC
low complexity region 393 411 N/A INTRINSIC
low complexity region 422 448 N/A INTRINSIC
low complexity region 522 535 N/A INTRINSIC
low complexity region 543 557 N/A INTRINSIC
low complexity region 565 599 N/A INTRINSIC
low complexity region 650 746 N/A INTRINSIC
Blast:SET 749 976 5e-26 BLAST
low complexity region 979 992 N/A INTRINSIC
coiled coil region 1053 1088 N/A INTRINSIC
low complexity region 1136 1147 N/A INTRINSIC
coiled coil region 1190 1213 N/A INTRINSIC
low complexity region 1249 1262 N/A INTRINSIC
low complexity region 1281 1292 N/A INTRINSIC
low complexity region 1322 1383 N/A INTRINSIC
low complexity region 1402 1442 N/A INTRINSIC
low complexity region 1484 1548 N/A INTRINSIC
low complexity region 1600 1618 N/A INTRINSIC
N-SET 1692 1836 1.54e-67 SMART
SET 1846 1969 4.03e-36 SMART
PostSET 1969 1985 4.8e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174836
SMART Domains Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
RRM 103 176 6.41e-13 SMART
low complexity region 229 241 N/A INTRINSIC
internal_repeat_1 248 266 1.92e-7 PROSPERO
internal_repeat_1 279 296 1.92e-7 PROSPERO
low complexity region 366 381 N/A INTRINSIC
low complexity region 393 411 N/A INTRINSIC
low complexity region 422 448 N/A INTRINSIC
low complexity region 522 535 N/A INTRINSIC
low complexity region 543 557 N/A INTRINSIC
low complexity region 565 599 N/A INTRINSIC
low complexity region 650 746 N/A INTRINSIC
Blast:SET 749 976 5e-26 BLAST
low complexity region 979 992 N/A INTRINSIC
coiled coil region 1053 1088 N/A INTRINSIC
coiled coil region 1149 1172 N/A INTRINSIC
low complexity region 1208 1221 N/A INTRINSIC
low complexity region 1240 1251 N/A INTRINSIC
low complexity region 1281 1342 N/A INTRINSIC
low complexity region 1361 1401 N/A INTRINSIC
low complexity region 1443 1507 N/A INTRINSIC
low complexity region 1559 1577 N/A INTRINSIC
N-SET 1651 1795 1.54e-67 SMART
SET 1805 1928 4.03e-36 SMART
PostSET 1928 1944 4.8e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181022
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
PHENOTYPE: CBA, C3H, DBA/2, SM and AKR have the F.1 form of this soluble liver antigen; A/J, A2G, BALB/c and C57BL/10 the F.2 form. F.2 antigen induces precipitating antibodies in F.1 but not F.2 strains and vice versa. F antigen immune response requires H2 Kk or Ak alleles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,211,007 (GRCm39) R917Q probably damaging Het
Atl1 T C 12: 70,002,141 (GRCm39) Y367H probably damaging Het
AW551984 T C 9: 39,511,062 (GRCm39) E175G possibly damaging Het
Cacna2d1 T A 5: 16,561,821 (GRCm39) D800E probably damaging Het
Cdon T A 9: 35,389,299 (GRCm39) F801L possibly damaging Het
Dcaf13 C T 15: 39,008,543 (GRCm39) Q382* probably null Het
Dpy19l3 T C 7: 35,411,633 (GRCm39) N367S possibly damaging Het
F11 A G 8: 45,714,111 (GRCm39) S3P possibly damaging Het
Fhip1b T C 7: 105,033,158 (GRCm39) E57G probably damaging Het
Fryl A T 5: 73,267,624 (GRCm39) probably benign Het
Gcnt3 A T 9: 69,941,695 (GRCm39) M291K possibly damaging Het
Glg1 T C 8: 111,889,412 (GRCm39) D927G probably damaging Het
Gm5862 C A 5: 26,224,510 (GRCm39) R153L probably damaging Het
Gucy2c T C 6: 136,742,628 (GRCm39) T237A probably benign Het
Helz A T 11: 107,510,973 (GRCm39) I610F probably damaging Het
Hsd17b13 A G 5: 104,124,964 (GRCm39) probably benign Het
Klhl32 G A 4: 24,649,533 (GRCm39) probably benign Het
Krt74 T A 15: 101,668,937 (GRCm39) noncoding transcript Het
Nopchap1 G A 10: 83,201,571 (GRCm39) V115M probably damaging Het
Or14a258 T A 7: 86,035,574 (GRCm39) Q98L probably damaging Het
Or9g4b T C 2: 85,616,053 (GRCm39) L66P probably damaging Het
Phyhipl A G 10: 70,401,109 (GRCm39) V163A possibly damaging Het
Pknox2 T A 9: 36,834,966 (GRCm39) T168S probably damaging Het
Pmfbp1 T C 8: 110,269,046 (GRCm39) probably benign Het
Sgce G A 6: 4,689,718 (GRCm39) R372* probably null Het
Stard5 T C 7: 83,285,980 (GRCm39) S102P possibly damaging Het
Syne2 A G 12: 76,121,360 (GRCm39) K5941R possibly damaging Het
Tas2r124 A T 6: 132,732,081 (GRCm39) H130L probably benign Het
Ttn T C 2: 76,546,027 (GRCm39) E32462G probably damaging Het
Tut4 T C 4: 108,415,974 (GRCm39) S1647P probably damaging Het
Ube2d3 A G 3: 135,165,844 (GRCm39) probably null Het
Vps13d G T 4: 144,835,145 (GRCm39) H1561Q possibly damaging Het
Other mutations in Hpd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02483:Hpd APN 5 123,320,641 (GRCm39) splice site probably null
IGL02510:Hpd APN 5 123,319,973 (GRCm39) missense possibly damaging 0.95
IGL02574:Hpd APN 5 123,317,420 (GRCm39) splice site probably benign
IGL02642:Hpd APN 5 123,319,503 (GRCm39) missense possibly damaging 0.86
Intermediary UTSW 5 123,315,587 (GRCm39) splice site probably null
metabolism UTSW 5 123,312,443 (GRCm39) missense probably benign
pyruvian UTSW 5 123,316,255 (GRCm39) nonsense probably null
R0079:Hpd UTSW 5 123,319,544 (GRCm39) missense probably damaging 1.00
R1022:Hpd UTSW 5 123,312,532 (GRCm39) missense possibly damaging 0.94
R1024:Hpd UTSW 5 123,312,532 (GRCm39) missense possibly damaging 0.94
R1165:Hpd UTSW 5 123,314,153 (GRCm39) critical splice donor site probably null
R2414:Hpd UTSW 5 123,315,587 (GRCm39) splice site probably null
R6572:Hpd UTSW 5 123,318,739 (GRCm39) missense probably benign 0.22
R6604:Hpd UTSW 5 123,318,964 (GRCm39) splice site probably null
R6616:Hpd UTSW 5 123,310,123 (GRCm39) missense probably damaging 1.00
R7539:Hpd UTSW 5 123,316,255 (GRCm39) nonsense probably null
R7952:Hpd UTSW 5 123,316,327 (GRCm39) missense possibly damaging 0.91
R8023:Hpd UTSW 5 123,314,297 (GRCm39) missense probably damaging 1.00
R8086:Hpd UTSW 5 123,314,252 (GRCm39) missense probably benign 0.20
R8134:Hpd UTSW 5 123,312,443 (GRCm39) missense probably benign
R9029:Hpd UTSW 5 123,313,973 (GRCm39) missense probably damaging 1.00
R9390:Hpd UTSW 5 123,318,794 (GRCm39) critical splice acceptor site probably null
R9483:Hpd UTSW 5 123,312,535 (GRCm39) missense probably damaging 1.00
R9532:Hpd UTSW 5 123,312,532 (GRCm39) missense possibly damaging 0.94
R9641:Hpd UTSW 5 123,310,052 (GRCm39) missense probably benign
R9664:Hpd UTSW 5 123,318,948 (GRCm39) critical splice donor site probably null
X0023:Hpd UTSW 5 123,312,502 (GRCm39) missense probably damaging 1.00
Z1176:Hpd UTSW 5 123,319,538 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02