Incidental Mutation 'IGL01293:Hpdl'
ID73002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpdl
Ensembl Gene ENSMUSG00000043155
Gene Name4-hydroxyphenylpyruvate dioxygenase-like
SynonymsA830048M07Rik, Gloxd1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.195) question?
Stock #IGL01293
Quality Score
Status
Chromosome4
Chromosomal Location116819904-116821707 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116820944 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 107 (T107S)
Ref Sequence ENSEMBL: ENSMUSP00000062327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055436] [ENSMUST00000102699] [ENSMUST00000155346]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055436
AA Change: T107S

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062327
Gene: ENSMUSG00000043155
AA Change: T107S

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,463,656 V25A probably benign Het
Aagab T C 9: 63,636,469 V235A probably benign Het
Ash1l T C 3: 88,983,529 V905A probably benign Het
Atrx A G X: 105,876,195 S641P probably benign Het
Bnc1 T C 7: 81,974,489 E330G probably damaging Het
Cenpq A T 17: 40,933,176 S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 M1K probably null Het
Cul2 A G 18: 3,419,426 K196E probably damaging Het
Cyp2d10 A T 15: 82,403,009 V471E possibly damaging Het
Efhc2 T A X: 17,207,695 I469L probably benign Het
Fhod3 C T 18: 25,020,652 probably benign Het
Gm1968 A G 16: 29,958,814 noncoding transcript Het
Gm438 G T 4: 144,777,589 H331N probably benign Het
Il1rl1 G A 1: 40,446,216 G276D possibly damaging Het
Irgq A G 7: 24,533,724 D330G probably damaging Het
Kdm4b A G 17: 56,353,019 D62G probably benign Het
Lama2 T C 10: 27,231,636 T793A probably benign Het
Lrrk2 T C 15: 91,726,137 F691L probably benign Het
Macf1 C T 4: 123,471,311 G1654E probably benign Het
Mgat4c A T 10: 102,388,225 Y100F probably benign Het
Ncapg A G 5: 45,681,854 N532S probably benign Het
Nfkb1 T C 3: 135,590,839 D782G probably damaging Het
Nthl1 G T 17: 24,638,709 C294F probably damaging Het
Obp2b A G 2: 25,737,707 H45R probably benign Het
Olfm1 A G 2: 28,214,703 E156G probably damaging Het
Olfr113 A G 17: 37,575,417 I2T probably benign Het
Olfr847 C A 9: 19,375,336 A182S probably benign Het
Otud6b A G 4: 14,822,682 probably benign Het
Patl2 T C 2: 122,123,810 T427A probably benign Het
Pdzd8 T A 19: 59,299,786 R1061W probably damaging Het
Plk3 A T 4: 117,132,997 L137* probably null Het
Rps6ka6 T C X: 111,450,362 probably benign Het
Shank1 T C 7: 44,354,236 V1784A possibly damaging Het
Smc1b A T 15: 85,131,898 S14T probably damaging Het
Sox4 C A 13: 28,952,681 R114L probably damaging Het
Speg C T 1: 75,388,102 R221W probably damaging Het
Tram1l1 T C 3: 124,322,139 V316A probably benign Het
Virma G T 4: 11,521,114 K840N probably damaging Het
Vmn1r49 A T 6: 90,072,412 S203T probably damaging Het
Wdr1 T C 5: 38,529,543 T293A probably benign Het
Xirp2 C T 2: 67,515,184 P2590S possibly damaging Het
Zfp106 T C 2: 120,535,035 Y297C possibly damaging Het
Zfp128 A G 7: 12,891,424 *573W probably null Het
Zfp575 G A 7: 24,585,757 P153L probably damaging Het
Other mutations in Hpdl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Hpdl APN 4 116820952 missense probably damaging 0.99
IGL02818:Hpdl APN 4 116820242 missense probably damaging 1.00
IGL02886:Hpdl APN 4 116820755 missense probably benign
R0403:Hpdl UTSW 4 116820479 missense possibly damaging 0.89
R0605:Hpdl UTSW 4 116820787 missense possibly damaging 0.87
R1565:Hpdl UTSW 4 116820883 missense probably damaging 1.00
R3791:Hpdl UTSW 4 116820532 missense possibly damaging 0.95
R4736:Hpdl UTSW 4 116821024 missense probably damaging 1.00
R4740:Hpdl UTSW 4 116821024 missense probably damaging 1.00
R5681:Hpdl UTSW 4 116820842 missense probably benign 0.40
R5781:Hpdl UTSW 4 116820578 missense probably damaging 1.00
R7427:Hpdl UTSW 4 116820865 missense probably damaging 1.00
R7428:Hpdl UTSW 4 116820865 missense probably damaging 1.00
Z1088:Hpdl UTSW 4 116820833 missense probably damaging 1.00
Posted On2013-10-07