Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02642:Hpd'

301774

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hpd

Ensembl Gene

ENSMUSG00000029445

Gene Name

4-hydroxyphenylpyruvic acid dioxygenase

Synonyms

Fla, Hppd, Flp, Laf

Accession Numbers

Essential gene?

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

Stock #

IGL02642

Quality Score

Status

Chromosome

Chromosomal Location

123309870-123320786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123319503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 22 (V22I)

Ref Sequence

ENSEMBL: ENSMUSP00000121922 (fasta)

Gene Model

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

AlphaFold

P49429

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031398
AA Change: V61I

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031398
Gene: ENSMUSG00000029445
AA Change: V61I

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

noncoding transcript
Transcript: ENSMUST00000124110

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154713
AA Change: V22I

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121922
Gene: ENSMUSG00000029445
AA Change: V22I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199260

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	C	3: 153,644,720 (GRCm39)	D68G	probably damaging	Het
Amer3	A	G	1: 34,625,761 (GRCm39)		probably benign	Het
Ankrd11	A	G	8: 123,617,390 (GRCm39)	L2133P	probably damaging	Het
Bcdin3d	G	T	15: 99,368,673 (GRCm39)	H175Q	probably damaging	Het
Brd8	C	A	18: 34,741,117 (GRCm39)		probably benign	Het
C1rl	C	A	6: 124,470,806 (GRCm39)	T38N	possibly damaging	Het
Cd160	T	C	3: 96,707,927 (GRCm39)	T140A	probably benign	Het
Cdk16	T	G	X: 20,563,167 (GRCm39)	D381E	probably benign	Het
Cpq	G	A	15: 33,381,546 (GRCm39)	G303D	probably damaging	Het
Dmp1	T	C	5: 104,359,536 (GRCm39)	S71P	probably damaging	Het
Enc1	A	C	13: 97,382,042 (GRCm39)	D184A	possibly damaging	Het
Enkur	T	C	2: 21,199,198 (GRCm39)	D112G	probably benign	Het
Esrra	A	T	19: 6,890,218 (GRCm39)	V59E	possibly damaging	Het
F830016B08Rik	A	G	18: 60,433,058 (GRCm39)	N47S	probably benign	Het
Fads1	T	A	19: 10,163,785 (GRCm39)	V189D	probably damaging	Het
Fam167a	T	A	14: 63,689,721 (GRCm39)	I6N	probably damaging	Het
Fam98b	A	G	2: 117,090,793 (GRCm39)	T164A	probably benign	Het
Fhip2a	A	G	19: 57,373,782 (GRCm39)	N681D	possibly damaging	Het
Fryl	T	A	5: 73,252,809 (GRCm39)	I953L	probably benign	Het
Gm10610	T	A	7: 83,198,813 (GRCm39)		noncoding transcript	Het
Grik5	G	T	7: 24,758,408 (GRCm39)	N338K	possibly damaging	Het
Gstt2	A	G	10: 75,668,652 (GRCm39)	I72T	probably benign	Het
Gusb	T	C	5: 130,029,376 (GRCm39)		probably null	Het
Hccs	A	G	X: 168,098,588 (GRCm39)		probably benign	Het
Hoxb4	A	G	11: 96,211,050 (GRCm39)	K217E	probably damaging	Het
Ighv1-47	A	G	12: 114,954,844 (GRCm39)	Y79H	probably damaging	Het
Il7r	C	A	15: 9,513,133 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,119,361 (GRCm39)	M2613L	probably benign	Het
Lama2	G	A	10: 27,343,269 (GRCm39)	H68Y	probably damaging	Het
Lce1c	C	A	3: 92,587,845 (GRCm39)		probably benign	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Lrfn1	T	C	7: 28,158,113 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 103,057,322 (GRCm39)		probably null	Het
Mri1	A	T	8: 84,983,702 (GRCm39)	L63Q	probably damaging	Het
Mrps11	G	T	7: 78,438,522 (GRCm39)		probably null	Het
Mtif2	C	A	11: 29,494,395 (GRCm39)	Q666K	probably benign	Het
Mtr	A	T	13: 12,210,118 (GRCm39)		probably benign	Het
Mug1	A	G	6: 121,859,544 (GRCm39)	N1181S	probably benign	Het
Myom1	A	T	17: 71,408,093 (GRCm39)	E1209V	possibly damaging	Het
Nhsl1	A	G	10: 18,284,138 (GRCm39)	I26M	possibly damaging	Het
Nlrp1a	T	A	11: 71,014,358 (GRCm39)	K297N	probably benign	Het
Obox5	T	C	7: 15,491,972 (GRCm39)	V129A	probably benign	Het
Pex16	C	T	2: 92,206,981 (GRCm39)	A53V	probably damaging	Het
Pfpl	T	C	19: 12,407,107 (GRCm39)	F453L	probably damaging	Het
Pip5k1b	G	T	19: 24,323,731 (GRCm39)	H406N	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plcxd3	T	C	15: 4,546,122 (GRCm39)	F42S	possibly damaging	Het
Pnpla7	T	C	2: 24,940,288 (GRCm39)	F1056L	probably benign	Het
Rapgef1	T	C	2: 29,590,872 (GRCm39)		probably benign	Het
Rdh11	G	A	12: 79,232,110 (GRCm39)		probably benign	Het
Serac1	A	G	17: 6,096,021 (GRCm39)	F576S	possibly damaging	Het
Slc45a4	A	T	15: 73,458,664 (GRCm39)	M295K	probably benign	Het
Taf1c	T	C	8: 120,325,796 (GRCm39)	T689A	probably benign	Het
Timm10b	G	T	7: 105,317,645 (GRCm39)		probably benign	Het
Tle5	A	T	10: 81,397,126 (GRCm39)	Q34L	possibly damaging	Het
Tnc	A	T	4: 63,883,816 (GRCm39)		probably benign	Het
Toporsl	T	C	4: 52,611,114 (GRCm39)	W336R	probably benign	Het
Usp54	C	A	14: 20,615,140 (GRCm39)		probably benign	Het
Vmn1r233	T	C	17: 21,214,291 (GRCm39)	R220G	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
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
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

Posted On

2015-04-16