Mutagenetix > Incidental Mutation

Incidental Mutation 'R7539:Hpd'

583772

Institutional Source

Beutler Lab

Gene Symbol

Hpd

Ensembl Gene

ENSMUSG00000029445

Gene Name

4-hydroxyphenylpyruvic acid dioxygenase

Synonyms

Fla, Hppd, Flp, Laf

MMRRC Submission

045611-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R7539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123309870-123320786 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to C at 123316255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 165 (Y165*)

Ref Sequence

ENSEMBL: ENSMUSP00000031398 (fasta)

Gene Model

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

AlphaFold

P49429

Predicted Effect

probably null
Transcript: ENSMUST00000031398
AA Change: Y165*

SMART Domains

Protein: ENSMUSP00000031398
Gene: ENSMUSG00000029445
AA Change: Y165*

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

probably null
Transcript: ENSMUST00000154713
AA Change: Y126*

SMART Domains

Protein: ENSMUSP00000121922
Gene: ENSMUSG00000029445
AA Change: Y126*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (63/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Abcf3	T	C	16: 20,371,382 (GRCm39)		probably null	Het
Agbl1	T	C	7: 76,075,677 (GRCm39)		probably null	Het
Ap5m1	C	A	14: 49,311,014 (GRCm39)	P28Q	probably damaging	Het
Bet1l	T	C	7: 140,434,457 (GRCm39)	D83G	probably benign	Het
Birc6	T	C	17: 74,956,691 (GRCm39)	S3571P	probably damaging	Het
Bod1l	A	T	5: 41,975,203 (GRCm39)	M2037K	possibly damaging	Het
Ccdc80	A	T	16: 44,915,445 (GRCm39)	E67V	probably benign	Het
Cep112	A	G	11: 108,746,654 (GRCm39)	M133V	probably benign	Het
Ckmt2	C	A	13: 92,008,063 (GRCm39)	D224Y	probably damaging	Het
Cplane1	A	G	15: 8,230,728 (GRCm39)	I1002V	probably benign	Het
Crb1	T	G	1: 139,175,967 (GRCm39)	K672T	probably damaging	Het
Dnhd1	T	C	7: 105,370,119 (GRCm39)	S4515P	probably damaging	Het
Dock9	A	G	14: 121,818,848 (GRCm39)	S1545P	probably damaging	Het
Dop1a	T	G	9: 86,403,626 (GRCm39)	S145A	probably benign	Het
Eps8l1	T	C	7: 4,473,036 (GRCm39)	S92P	probably damaging	Het
Faap100	T	C	11: 120,268,464 (GRCm39)	D103G	possibly damaging	Het
Fech	T	A	18: 64,616,565 (GRCm39)		probably null	Het
Folh1	T	A	7: 86,375,117 (GRCm39)	E623V	probably benign	Het
Galnt5	T	C	2: 57,925,242 (GRCm39)	L841P	probably damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm10577	C	T	4: 100,877,893 (GRCm39)	V1I	unknown	Het
Grip1	T	A	10: 119,890,776 (GRCm39)	H938Q	probably benign	Het
Gucy2g	G	A	19: 55,191,586 (GRCm39)	A955V	probably damaging	Het
Iqsec1	C	A	6: 90,639,873 (GRCm39)	R955L	probably benign	Het
Masp1	A	T	16: 23,289,128 (GRCm39)	H557Q	possibly damaging	Het
Muc4	C	T	16: 32,576,770 (GRCm39)	T20M		Het
Myo16	T	C	8: 10,411,095 (GRCm39)		probably null	Het
Nfkb2	T	C	19: 46,296,662 (GRCm39)	F273L	possibly damaging	Het
Nherf2	G	T	17: 24,860,873 (GRCm39)	A223D	probably damaging	Het
Or11l3	A	T	11: 58,516,782 (GRCm39)	I29N	probably damaging	Het
Or1l8	T	C	2: 36,817,221 (GRCm39)	R302G	probably benign	Het
Or2a56	T	C	6: 42,933,037 (GRCm39)	C202R	possibly damaging	Het
Or4k49	T	C	2: 111,494,778 (GRCm39)	V69A	possibly damaging	Het
Or52ab7	A	G	7: 102,977,701 (GRCm39)	S3G	probably benign	Het
Or52e3	T	C	7: 102,869,273 (GRCm39)	V116A	possibly damaging	Het
Or5b124	C	T	19: 13,610,933 (GRCm39)	Q153*	probably null	Het
Or6c2	A	T	10: 129,362,974 (GRCm39)	K293*	probably null	Het
Or6c69	T	C	10: 129,747,932 (GRCm39)	T72A	probably damaging	Het
Or7e174	A	T	9: 20,012,915 (GRCm39)	M287L	probably benign	Het
Parp4	T	A	14: 56,873,212 (GRCm39)	I1152N	probably damaging	Het
Peg3	T	C	7: 6,711,167 (GRCm39)	T1352A	probably benign	Het
Pik3c2a	T	C	7: 115,939,331 (GRCm39)	N1669S	probably damaging	Het
Pinx1	A	T	14: 64,156,655 (GRCm39)	Q194L	probably benign	Het
Podxl2	A	C	6: 88,826,311 (GRCm39)	S268A	probably benign	Het
Polr2c	C	A	8: 95,597,407 (GRCm39)	H363N	unknown	Het
Prlr	C	T	15: 10,329,109 (GRCm39)	T528I	probably benign	Het
Rab37	A	C	11: 115,051,487 (GRCm39)	Q198P	probably benign	Het
Rrm2b	T	A	15: 37,937,595 (GRCm39)		probably null	Het
Serpina3b	T	C	12: 104,096,970 (GRCm39)	S84P	possibly damaging	Het
Stat4	A	T	1: 52,110,868 (GRCm39)		probably null	Het
Them6	T	C	15: 74,595,349 (GRCm39)	I185T	probably damaging	Het
Tmco4	T	A	4: 138,749,010 (GRCm39)	M316K	probably benign	Het
Tmtc4	G	T	14: 123,215,701 (GRCm39)		probably null	Het
Tnni3k	A	T	3: 154,667,668 (GRCm39)	N248K	probably benign	Het
Trim43a	T	A	9: 88,465,096 (GRCm39)	L141Q	probably benign	Het
Utp20	C	T	10: 88,627,607 (GRCm39)	V953M	probably damaging	Het
Vmn2r118	T	A	17: 55,899,853 (GRCm39)	T684S	probably damaging	Het
Wasl	A	T	6: 24,619,197 (GRCm39)	I441N	unknown	Het
Wfikkn2	T	C	11: 94,133,185 (GRCm39)	D64G	probably damaging	Het
Zfp128	C	A	7: 12,624,479 (GRCm39)	Y282*	probably null	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
R7952:Hpd	UTSW	5	123,316,327 (GRCm39)	missense	possibly damaging	0.91
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'- GTGGTTAACTGAACAGCTGTTATG -3'
(R):5'- TTCATGGTGGGACTCATGGC -3'

Sequencing Primer
(F):5'- GATCTCACTATGTAGACCAGGCTG -3'
(R):5'- CTGTGGTGGTGCTTAGAGAAGAG -3'

Posted On

2019-10-17