Incidental Mutation 'R1565:Hpdl'
ID 175183
Institutional Source Beutler Lab
Gene Symbol Hpdl
Ensembl Gene ENSMUSG00000043155
Gene Name 4-hydroxyphenylpyruvate dioxygenase-like
Synonyms A830048M07Rik, Gloxd1
MMRRC Submission 039604-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R1565 (G1)
Quality Score 179
Status Validated
Chromosome 4
Chromosomal Location 116819904-116821707 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116820883 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 127 (N127S)
Ref Sequence ENSEMBL: ENSMUSP00000062327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055436] [ENSMUST00000102699] [ENSMUST00000155346]
AlphaFold Q8K248
Predicted Effect probably damaging
Transcript: ENSMUST00000055436
AA Change: N127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062327
Gene: ENSMUSG00000043155
AA Change: N127S

DomainStartEndE-ValueType
SCOP:d1cjxa2 3 144 6e-7 SMART
PDB:1T47|B 4 367 8e-32 PDB
SCOP:d1cjxa2 161 367 5e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102699
SMART Domains Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687

DomainStartEndE-ValueType
ENDO3c 107 259 1.46e-52 SMART
FES 260 280 2.16e-5 SMART
Pfam:NUDIX_4 353 463 2.3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151670
Predicted Effect probably benign
Transcript: ENSMUST00000155346
SMART Domains Protein: ENSMUSP00000122777
Gene: ENSMUSG00000028687

DomainStartEndE-ValueType
PDB:3N5N|Y 50 100 3e-20 PDB
SCOP:d1keaa_ 59 86 3e-3 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 96% (82/85)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,880,501 (GRCm38) G270S probably benign Het
Abtb1 T C 6: 88,836,554 (GRCm38) T401A probably benign Het
Adamts14 A T 10: 61,270,897 (GRCm38) M148K probably damaging Het
Adcy5 A G 16: 35,268,957 (GRCm38) E508G probably damaging Het
Ankfy1 T A 11: 72,757,318 (GRCm38) L875H probably damaging Het
Cacng3 A T 7: 122,768,401 (GRCm38) D168V probably damaging Het
Clpb G A 7: 101,785,461 (GRCm38) R488Q probably benign Het
Cltrn A G X: 164,118,234 (GRCm38) D184G possibly damaging Het
Cpxm2 A T 7: 132,062,145 (GRCm38) Y350N probably damaging Het
D130040H23Rik T A 8: 69,303,160 (GRCm38) *406R probably null Het
Dnah10 T A 5: 124,829,614 (GRCm38) D4236E probably damaging Het
Dpf3 T A 12: 83,370,617 (GRCm38) Y27F probably damaging Het
Esp4 T C 17: 40,602,595 (GRCm38) *118Q probably null Het
Fam222b T C 11: 78,154,662 (GRCm38) S222P possibly damaging Het
Flnc T C 6: 29,455,171 (GRCm38) V1933A probably damaging Het
Gem T C 4: 11,713,709 (GRCm38) F282L possibly damaging Het
Gli2 T C 1: 118,841,930 (GRCm38) T631A possibly damaging Het
Gpld1 T A 13: 24,956,068 (GRCm38) V116E probably damaging Het
Gpr176 A G 2: 118,280,214 (GRCm38) M188T probably benign Het
Grk5 T C 19: 61,089,972 (GRCm38) V489A probably damaging Het
Hsd17b8 C T 17: 34,027,495 (GRCm38) V105I possibly damaging Het
Id4 G T 13: 48,262,294 (GRCm38) V151L possibly damaging Het
Kcnh8 G T 17: 52,956,881 (GRCm38) G802V probably benign Het
Lamc1 C A 1: 153,242,743 (GRCm38) S894I probably benign Het
Larp1b A G 3: 40,972,384 (GRCm38) N184S probably damaging Het
Lhx1 A T 11: 84,519,821 (GRCm38) S226T probably benign Het
Lmo7 A T 14: 101,887,521 (GRCm38) Q472L probably damaging Het
Mog G C 17: 37,017,582 (GRCm38) N152K possibly damaging Het
Mttp A G 3: 138,116,405 (GRCm38) probably null Het
Mycbp2 A G 14: 103,252,509 (GRCm38) V953A possibly damaging Het
Myo3a A T 2: 22,340,280 (GRCm38) Y509F probably damaging Het
Myo9b A G 8: 71,315,192 (GRCm38) N303S possibly damaging Het
Nek3 T C 8: 22,132,201 (GRCm38) probably null Het
Nlrc4 A T 17: 74,441,931 (GRCm38) D771E probably benign Het
Nup160 A T 2: 90,722,061 (GRCm38) N1127I possibly damaging Het
Oas1h A T 5: 120,862,600 (GRCm38) N91I probably damaging Het
Or13p4 T A 4: 118,690,192 (GRCm38) N87Y probably damaging Het
Or4c120 A T 2: 89,170,627 (GRCm38) V195D probably benign Het
Or4c121 G T 2: 89,193,883 (GRCm38) S50R probably damaging Het
Parp4 T C 14: 56,589,872 (GRCm38) probably benign Het
Pi4ka G A 16: 17,281,900 (GRCm38) C96Y probably null Het
Pira2 A T 7: 3,844,549 (GRCm38) F47Y probably damaging Het
Pkhd1 C A 1: 20,347,457 (GRCm38) G2490V probably damaging Het
Plekhg1 C T 10: 3,940,526 (GRCm38) T394I probably damaging Het
Pramel22 G A 4: 143,655,617 (GRCm38) Q170* probably null Het
Psmd1 T C 1: 86,091,997 (GRCm38) probably benign Het
Rab3ip A T 10: 116,939,223 (GRCm38) C77S probably benign Het
Reln A T 5: 21,925,213 (GRCm38) M2700K probably benign Het
Rfx1 A G 8: 84,073,946 (GRCm38) T59A probably benign Het
Ric8b G T 10: 84,980,099 (GRCm38) V405L probably benign Het
Rufy3 G T 5: 88,640,632 (GRCm38) A479S probably damaging Het
Sardh A T 2: 27,242,719 (GRCm38) Y166N probably damaging Het
Slamf6 T G 1: 171,934,408 (GRCm38) V132G possibly damaging Het
Slc12a3 T G 8: 94,345,877 (GRCm38) H674Q possibly damaging Het
Sned1 G A 1: 93,281,654 (GRCm38) V830M possibly damaging Het
Srsf9 A G 5: 115,327,370 (GRCm38) N21S possibly damaging Het
Stkld1 A T 2: 26,950,090 (GRCm38) T391S probably benign Het
Sumf2 C A 5: 129,859,914 (GRCm38) N230K probably damaging Het
Tbc1d22a T C 15: 86,235,569 (GRCm38) V22A possibly damaging Het
Thsd7b T A 1: 129,596,041 (GRCm38) S194T possibly damaging Het
Tnn T A 1: 160,097,265 (GRCm38) Y1173F probably damaging Het
Top2a A G 11: 99,001,054 (GRCm38) F1122L probably damaging Het
Trappc9 G A 15: 73,025,967 (GRCm38) R377W probably damaging Het
Trim39 G A 17: 36,268,854 (GRCm38) R70W probably damaging Het
Ttn G A 2: 76,794,261 (GRCm38) T15289I probably damaging Het
Ugt2b38 A T 5: 87,411,914 (GRCm38) V373E probably damaging Het
Usp54 A G 14: 20,607,159 (GRCm38) S24P probably damaging Het
Vmn2r27 C T 6: 124,231,634 (GRCm38) G51S probably benign Het
Xylt2 C T 11: 94,667,594 (GRCm38) A579T probably benign Het
Zbtb21 A G 16: 97,952,427 (GRCm38) S247P probably benign Het
Zc3h7b C T 15: 81,777,088 (GRCm38) P376L probably benign Het
Zfp251 T A 15: 76,853,038 (GRCm38) R613S probably damaging Het
Zfp251 C T 15: 76,853,039 (GRCm38) R613K possibly damaging Het
Zfp91 T C 19: 12,779,075 (GRCm38) D135G probably benign Het
Other mutations in Hpdl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Hpdl APN 4 116,820,944 (GRCm38) missense possibly damaging 0.78
IGL02166:Hpdl APN 4 116,820,952 (GRCm38) missense probably damaging 0.99
IGL02818:Hpdl APN 4 116,820,242 (GRCm38) missense probably damaging 1.00
IGL02886:Hpdl APN 4 116,820,755 (GRCm38) missense probably benign
R0403:Hpdl UTSW 4 116,820,479 (GRCm38) missense possibly damaging 0.89
R0605:Hpdl UTSW 4 116,820,787 (GRCm38) missense possibly damaging 0.87
R3791:Hpdl UTSW 4 116,820,532 (GRCm38) missense possibly damaging 0.95
R4736:Hpdl UTSW 4 116,821,024 (GRCm38) missense probably damaging 1.00
R4740:Hpdl UTSW 4 116,821,024 (GRCm38) missense probably damaging 1.00
R5681:Hpdl UTSW 4 116,820,842 (GRCm38) missense probably benign 0.40
R5781:Hpdl UTSW 4 116,820,578 (GRCm38) missense probably damaging 1.00
R7427:Hpdl UTSW 4 116,820,865 (GRCm38) missense probably damaging 1.00
R7428:Hpdl UTSW 4 116,820,865 (GRCm38) missense probably damaging 1.00
R9187:Hpdl UTSW 4 116,821,175 (GRCm38) missense probably damaging 1.00
R9417:Hpdl UTSW 4 116,820,620 (GRCm38) missense possibly damaging 0.64
R9777:Hpdl UTSW 4 116,820,865 (GRCm38) missense probably damaging 1.00
Z1088:Hpdl UTSW 4 116,820,833 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTGGAACCAGCGCATAAGCATAG -3'
(R):5'- ACATCGTGTCTTCGGCTTCCAG -3'

Sequencing Primer
(F):5'- CATAAGCATAGGGGAGCTGCC -3'
(R):5'- ACGCTGTCTTTCTAGTGAATGAG -3'
Posted On 2014-04-24