Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Hpd'

632160

Institutional Source

Beutler Lab

Gene Symbol

Hpd

Ensembl Gene

ENSMUSG00000029445

Gene Name

4-hydroxyphenylpyruvic acid dioxygenase

Synonyms

Laf, Flp, Fla, Hppd

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8134 (G1)

Quality Score

210.009

Status

Validated

Chromosome

Chromosomal Location

123171807-123182727 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 123174380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 309 (Q309K)

Ref Sequence

ENSEMBL: ENSMUSP00000031398 (fasta)

Gene Model

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

AlphaFold

P49429

Predicted Effect

probably benign
Transcript: ENSMUST00000031398
AA Change: Q309K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031398
Gene: ENSMUSG00000029445
AA Change: Q309K

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

SMART Domains

Protein: ENSMUSP00000118702
Gene: ENSMUSG00000029445
AA Change: Q40K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154713

SMART Domains

Protein: ENSMUSP00000121922
Gene: ENSMUSG00000029445

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	probably benign	Het

Other mutations in Hpd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02483:Hpd	APN	5	123182578	splice site	probably null
IGL02510:Hpd	APN	5	123181910	missense	possibly damaging	0.95
IGL02574:Hpd	APN	5	123179357	splice site	probably benign
IGL02642:Hpd	APN	5	123181440	missense	possibly damaging	0.86
IGL03374:Hpd	APN	5	123172045	missense	probably damaging	1.00
Intermediary	UTSW	5	123177524	splice site	probably null
metabolism	UTSW	5	123174380	missense	probably benign
pyruvian	UTSW	5	123178192	nonsense	probably null
R0079:Hpd	UTSW	5	123181481	missense	probably damaging	1.00
R1022:Hpd	UTSW	5	123174469	missense	possibly damaging	0.94
R1024:Hpd	UTSW	5	123174469	missense	possibly damaging	0.94
R1165:Hpd	UTSW	5	123176090	critical splice donor site	probably null
R2414:Hpd	UTSW	5	123177524	splice site	probably null
R6572:Hpd	UTSW	5	123180676	missense	probably benign	0.22
R6604:Hpd	UTSW	5	123180901	splice site	probably null
R6616:Hpd	UTSW	5	123172060	missense	probably damaging	1.00
R7539:Hpd	UTSW	5	123178192	nonsense	probably null
R7952:Hpd	UTSW	5	123178264	missense	possibly damaging	0.91
R8023:Hpd	UTSW	5	123176234	missense	probably damaging	1.00
R8086:Hpd	UTSW	5	123176189	missense	probably benign	0.20
R9029:Hpd	UTSW	5	123175910	missense	probably damaging	1.00
R9390:Hpd	UTSW	5	123180731	critical splice acceptor site	probably null
R9483:Hpd	UTSW	5	123174472	missense	probably damaging	1.00
R9532:Hpd	UTSW	5	123174469	missense	possibly damaging	0.94
R9641:Hpd	UTSW	5	123171989	missense	probably benign
R9664:Hpd	UTSW	5	123180885	critical splice donor site	probably null
X0023:Hpd	UTSW	5	123174439	missense	probably damaging	1.00
Z1176:Hpd	UTSW	5	123181475	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTTAGCACAGTTTACTCTC -3'
(R):5'- TGGATAGGGACTCTGCTACCTC -3'

Sequencing Primer
(F):5'- GATTTCAGTTAAAGCCACCCATCAG -3'
(R):5'- GGACTCTGCTACCTCCTGCC -3'

Posted On

2020-06-30