Mutagenetix > Incidental Mutation

Incidental Mutation 'R7952:Hpd'

649610

Institutional Source

Beutler Lab

Gene Symbol

Hpd

Ensembl Gene

ENSMUSG00000029445

Gene Name

4-hydroxyphenylpyruvic acid dioxygenase

Synonyms

Fla, Hppd, Flp, Laf

MMRRC Submission

045996-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R7952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123309870-123320786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123316327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 141 (D141E)

Ref Sequence

ENSEMBL: ENSMUSP00000031398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031398] [ENSMUST00000154713]

AlphaFold

P49429

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031398
AA Change: D141E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031398
Gene: ENSMUSG00000029445
AA Change: D141E

Domain	Start	End	E-Value	Type
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: ENSMUST00000144679

SMART Domains

Protein: ENSMUSP00000118702
Gene: ENSMUSG00000029445

Domain	Start	End	E-Value	Type
PDB:1SQI\|B	2	89	4e-51	PDB
SCOP:d1cjxa2	3	89	3e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154713
AA Change: D102E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121922
Gene: ENSMUSG00000029445
AA Change: D102E

Domain	Start	End	E-Value	Type
SCOP:d1cjxa1	1	122	3e-13	SMART
PDB:1SQI\|B	1	159	1e-113	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (47/48)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,579,903 (GRCm39)	S516P	possibly damaging	Het
Adora1	A	G	1: 134,131,024 (GRCm39)	S216P	possibly damaging	Het
Arhgap17	G	T	7: 122,885,914 (GRCm39)	S739R	probably benign	Het
Bphl	A	G	13: 34,230,780 (GRCm39)	T75A	probably benign	Het
Ccdc73	G	A	2: 104,775,801 (GRCm39)		probably null	Het
Cela3b	T	C	4: 137,149,219 (GRCm39)	I262V	probably benign	Het
Chpf	T	C	1: 75,455,586 (GRCm39)	N55S	probably benign	Het
Chst8	A	G	7: 34,374,919 (GRCm39)	Y307H	probably damaging	Het
Cmtm2b	G	T	8: 105,057,203 (GRCm39)	E188*	probably null	Het
Cmya5	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	13: 93,233,512 (GRCm39)		probably benign	Het
Cxadr	C	T	16: 78,131,123 (GRCm39)	T213M	possibly damaging	Het
D3Ertd751e	T	A	3: 41,703,096 (GRCm39)		probably null	Het
Dhx32	T	C	7: 133,350,725 (GRCm39)	Y115C	probably benign	Het
Dop1b	C	A	16: 93,546,848 (GRCm39)	T284K	possibly damaging	Het
Dync2h1	A	G	9: 7,129,802 (GRCm39)	V1732A	possibly damaging	Het
Egf	C	T	3: 129,533,645 (GRCm39)	R65Q	probably damaging	Het
Fat4	T	G	3: 38,945,870 (GRCm39)	S1588A	probably damaging	Het
Fmnl3	A	G	15: 99,220,518 (GRCm39)	V588A	probably damaging	Het
Galnt3	C	T	2: 65,928,186 (GRCm39)	E237K	probably benign	Het
Grik2	T	C	10: 49,298,633 (GRCm39)	I363V	probably benign	Het
Grik3	C	T	4: 125,598,340 (GRCm39)	T769I	probably damaging	Het
Hrc	A	T	7: 44,985,692 (GRCm39)	D281V	probably damaging	Het
Igfn1	A	T	1: 135,891,693 (GRCm39)	I2274K	probably damaging	Het
Iqgap3	A	G	3: 88,005,677 (GRCm39)	I502V	probably benign	Het
Kcnh8	A	T	17: 53,266,493 (GRCm39)	Q835L	probably benign	Het
Kmt2d	C	T	15: 98,748,649 (GRCm39)	G2892R	unknown	Het
Lama4	T	G	10: 38,906,486 (GRCm39)	I284S	probably benign	Het
Madd	C	A	2: 90,992,886 (GRCm39)	G1011V	probably damaging	Het
Mroh2b	T	C	15: 4,980,693 (GRCm39)	F1421L	probably damaging	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nedd9	C	A	13: 41,470,431 (GRCm39)	D241Y	probably damaging	Het
Notch2	T	C	3: 98,007,552 (GRCm39)	V434A	probably benign	Het
Ofcc1	C	T	13: 40,433,781 (GRCm39)	R108Q	probably benign	Het
Or10al2	T	C	17: 37,983,708 (GRCm39)	Y265H	probably damaging	Het
Or51g1	A	G	7: 102,633,721 (GRCm39)	F217L	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pramel41	T	C	5: 94,594,902 (GRCm39)	V254A	probably benign	Het
Prss55	A	G	14: 64,313,132 (GRCm39)	Y251H	probably damaging	Het
Rec8	T	C	14: 55,862,760 (GRCm39)	V573A	possibly damaging	Het
Ryr2	T	C	13: 11,661,313 (GRCm39)		probably null	Het
Sec31b	A	G	19: 44,508,979 (GRCm39)	S667P	probably benign	Het
Smim17	A	G	7: 6,427,849 (GRCm39)	D45G	possibly damaging	Het
Sspo	A	G	6: 48,464,263 (GRCm39)	T3906A	probably damaging	Het
Tanc2	G	T	11: 105,787,423 (GRCm39)	G908W	probably damaging	Het
Tcf7l2	A	T	19: 55,886,989 (GRCm39)	M1L	probably benign	Het
Tpx2	C	T	2: 152,735,514 (GRCm39)	A714V	probably damaging	Het
Trgc4	T	A	13: 19,533,740 (GRCm39)	S121R		Het
Trmt1	G	A	8: 85,415,969 (GRCm39)	R9H	possibly damaging	Het
Unc13a	A	T	8: 72,111,131 (GRCm39)	V360E	possibly damaging	Het
Vmn1r225	T	A	17: 20,722,589 (GRCm39)	I10N	probably damaging	Het
Xkr4	A	G	1: 3,740,842 (GRCm39)	S244P	possibly damaging	Het
Zkscan14	G	T	5: 145,132,708 (GRCm39)	H274Q	probably damaging	Het

Other mutations in Hpd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03374:Hpd	APN	5	123,310,108 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTTCCCACCAGATGCTTAC -3'
(R):5'- AGTCTCCCATCCTACTACCGAG -3'

Sequencing Primer
(F):5'- GATATTCCAGTCTCCCAGAGAAG -3'
(R):5'- CGAGCAAAACGGCAGGTAGTC -3'

Posted On

2020-09-15