Incidental Mutation 'R3791:Hpdl'
ID 272522
Institutional Source Beutler Lab
Gene Symbol Hpdl
Ensembl Gene ENSMUSG00000043155
Gene Name 4-hydroxyphenylpyruvate dioxygenase-like
Synonyms Gloxd1, A830048M07Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R3791 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116677104-116678705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116677729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 244 (V244A)
Ref Sequence ENSEMBL: ENSMUSP00000062327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055436] [ENSMUST00000102699] [ENSMUST00000130359] [ENSMUST00000155346]
AlphaFold Q8K248
Predicted Effect possibly damaging
Transcript: ENSMUST00000055436
AA Change: V244A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000062327
Gene: ENSMUSG00000043155
AA Change: V244A

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 probably benign
Transcript: ENSMUST00000130359
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik AGGTGGTGGTGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGG 6: 132,603,479 (GRCm39) probably benign Het
A930009A15Rik A T 10: 115,414,194 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,741,221 (GRCm39) Y81C probably damaging Het
Alx3 A T 3: 107,508,022 (GRCm39) Y177F probably damaging Het
C6 A G 15: 4,764,717 (GRCm39) T138A probably benign Het
Cacna2d3 T C 14: 28,905,538 (GRCm39) M410V probably benign Het
Ccn4 A G 15: 66,791,137 (GRCm39) Y313C probably damaging Het
Celsr3 G A 9: 108,719,751 (GRCm39) R2450H probably benign Het
Cnrip1 C T 11: 17,004,845 (GRCm39) probably benign Het
Col6a5 A C 9: 105,741,868 (GRCm39) D2350E probably damaging Het
Cyp4a12b A G 4: 115,292,167 (GRCm39) I407V probably benign Het
Gpx4 A G 10: 79,892,023 (GRCm39) I245V probably benign Het
H2-K2 A G 17: 34,218,499 (GRCm39) I139T probably benign Het
Hmgcl A G 4: 135,687,298 (GRCm39) K191R probably benign Het
Hpse A G 5: 100,840,104 (GRCm39) S338P probably damaging Het
Ifi203 T C 1: 173,762,646 (GRCm39) K162R possibly damaging Het
Kit A G 5: 75,799,810 (GRCm39) N514S probably damaging Het
Kmt2d G A 15: 98,742,030 (GRCm39) probably benign Het
Limd1 T A 9: 123,309,439 (GRCm39) S379R possibly damaging Het
Llph A G 10: 120,064,060 (GRCm39) K59E probably benign Het
Lrrc7 T A 3: 157,869,593 (GRCm39) M709L probably benign Het
Muc5ac A G 7: 141,352,238 (GRCm39) S665G probably benign Het
Ncapd3 C T 9: 26,963,931 (GRCm39) H524Y probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Or51s1 T C 7: 102,558,239 (GRCm39) D269G probably benign Het
Phtf2 T C 5: 20,987,296 (GRCm39) E400G probably damaging Het
Pkd1l3 T C 8: 110,362,949 (GRCm39) V1080A probably damaging Het
Plch1 A T 3: 63,606,944 (GRCm39) H1007Q probably benign Het
Prr5 T C 15: 84,565,417 (GRCm39) S3P probably damaging Het
Qtrt1 G A 9: 21,330,636 (GRCm39) D279N probably damaging Het
Rundc1 G A 11: 101,325,027 (GRCm39) A578T probably damaging Het
Shc4 A T 2: 125,565,251 (GRCm39) V16E probably damaging Het
Sik3 A T 9: 46,106,120 (GRCm39) L329F possibly damaging Het
Slc36a3 A G 11: 55,015,982 (GRCm39) S391P possibly damaging Het
Smad1 C A 8: 80,066,399 (GRCm39) R426L probably damaging Het
Tent4b G A 8: 88,969,957 (GRCm39) E210K probably damaging Het
Thrap3 A T 4: 126,061,293 (GRCm39) N820K possibly damaging Het
Tnrc6b T C 15: 80,807,841 (GRCm39) S1598P probably damaging Het
Ttn T C 2: 76,545,168 (GRCm39) I32645V probably damaging Het
Zfp266 A C 9: 20,410,777 (GRCm39) Y467D probably damaging Het
Zfp526 T A 7: 24,925,628 (GRCm39) M629K probably damaging Het
Zfp788 A T 7: 41,299,152 (GRCm39) H596L probably damaging Het
Zhx3 A G 2: 160,622,368 (GRCm39) W600R possibly damaging Het
Other mutations in Hpdl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Hpdl APN 4 116,678,141 (GRCm39) missense possibly damaging 0.78
IGL02166:Hpdl APN 4 116,678,149 (GRCm39) missense probably damaging 0.99
IGL02818:Hpdl APN 4 116,677,439 (GRCm39) missense probably damaging 1.00
IGL02886:Hpdl APN 4 116,677,952 (GRCm39) missense probably benign
R0403:Hpdl UTSW 4 116,677,676 (GRCm39) missense possibly damaging 0.89
R0605:Hpdl UTSW 4 116,677,984 (GRCm39) missense possibly damaging 0.87
R1565:Hpdl UTSW 4 116,678,080 (GRCm39) missense probably damaging 1.00
R4736:Hpdl UTSW 4 116,678,221 (GRCm39) missense probably damaging 1.00
R4740:Hpdl UTSW 4 116,678,221 (GRCm39) missense probably damaging 1.00
R5681:Hpdl UTSW 4 116,678,039 (GRCm39) missense probably benign 0.40
R5781:Hpdl UTSW 4 116,677,775 (GRCm39) missense probably damaging 1.00
R7427:Hpdl UTSW 4 116,678,062 (GRCm39) missense probably damaging 1.00
R7428:Hpdl UTSW 4 116,678,062 (GRCm39) missense probably damaging 1.00
R9187:Hpdl UTSW 4 116,678,372 (GRCm39) missense probably damaging 1.00
R9417:Hpdl UTSW 4 116,677,817 (GRCm39) missense possibly damaging 0.64
R9777:Hpdl UTSW 4 116,678,062 (GRCm39) missense probably damaging 1.00
Z1088:Hpdl UTSW 4 116,678,030 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTAGAAGGCCAGGCTTGTG -3'
(R):5'- TGCTTATGCGCTGGTTCCAC -3'

Sequencing Primer
(F):5'- GGCTGCTGGTAATAAGCT -3'
(R):5'- TGGTTCCACGACTGCCTAG -3'
Posted On 2015-03-25