Mutagenetix > Incidental Mutation

Incidental Mutation 'R9029:Hpd'

686932

Institutional Source

Beutler Lab

Gene Symbol

Hpd

Ensembl Gene

ENSMUSG00000029445

Gene Name

4-hydroxyphenylpyruvic acid dioxygenase

Synonyms

Fla, Hppd, Flp, Laf

MMRRC Submission

068858-MU

Accession Numbers

Essential gene?

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

Stock #

R9029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123309870-123320786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123313973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 271 (T271M)

Ref Sequence

ENSEMBL: ENSMUSP00000031398 (fasta)

Gene Model

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

AlphaFold

P49429

Predicted Effect

probably damaging
Transcript: ENSMUST00000031398
AA Change: T271M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031398
Gene: ENSMUSG00000029445
AA Change: T271M

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: T2M

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	T	3: 96,591,460 (GRCm39)	K582M	probably benign	Het
Catsper3	T	G	13: 55,954,147 (GRCm39)	V305G	probably damaging	Het
Chd9	G	A	8: 91,683,198 (GRCm39)	R546Q	unknown	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cpne3	A	G	4: 19,535,292 (GRCm39)	Y247H	possibly damaging	Het
Cramp1	C	G	17: 25,232,884 (GRCm39)	A39P	probably damaging	Het
Cyp26b1	A	T	6: 84,554,035 (GRCm39)	V194E	probably benign	Het
Dchs1	A	G	7: 105,402,919 (GRCm39)	S3208P	probably benign	Het
Dhrs3	A	G	4: 144,653,755 (GRCm39)	Y292C	probably damaging	Het
Eif3l	T	C	15: 78,968,412 (GRCm39)	V227A	probably damaging	Het
Eif4enif1	T	C	11: 3,174,716 (GRCm39)	V290A	probably damaging	Het
Epb41l4a	A	C	18: 34,012,042 (GRCm39)	Y159*	probably null	Het
Gm5460	T	A	14: 33,739,326 (GRCm39)	S103T		Het
Gsto1	A	T	19: 47,852,837 (GRCm39)	Y224F	probably benign	Het
Ift74	T	C	4: 94,506,271 (GRCm39)	I18T	probably benign	Het
Kif12	A	G	4: 63,087,704 (GRCm39)	C260R	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Luc7l3	A	G	11: 94,188,676 (GRCm39)	V201A	unknown	Het
Mcrip2	T	C	17: 26,082,989 (GRCm39)	E146G	probably damaging	Het
Mctp1	T	A	13: 76,836,741 (GRCm39)	Y323N	probably benign	Het
Micu2	T	A	14: 58,156,363 (GRCm39)	I370F	probably damaging	Het
Mug2	T	A	6: 122,061,328 (GRCm39)	V1416E	probably damaging	Het
Mup3	T	C	4: 62,003,540 (GRCm39)	N110D	probably damaging	Het
Nav3	C	T	10: 109,699,613 (GRCm39)	D294N	possibly damaging	Het
Nphs2	G	A	1: 156,140,592 (GRCm39)	A110T	probably benign	Het
Or1a1	T	C	11: 74,086,563 (GRCm39)	I78T	possibly damaging	Het
Or5t7	A	G	2: 86,506,831 (GRCm39)	M282T	probably damaging	Het
Or6c215	G	T	10: 129,637,926 (GRCm39)	P156Q	probably damaging	Het
Otof	C	T	5: 30,527,419 (GRCm39)		probably null	Het
Pgrmc2	G	T	3: 41,037,105 (GRCm39)	R109S	probably benign	Het
Plb1	G	A	5: 32,439,079 (GRCm39)	V214I	probably damaging	Het
Ppp2r5d	C	T	17: 46,998,906 (GRCm39)	S52N	probably benign	Het
Rrp12	C	A	19: 41,859,718 (GRCm39)	E1082*	probably null	Het
Skint3	A	G	4: 112,111,151 (GRCm39)	E92G	probably damaging	Het
Slc12a1	C	G	2: 124,996,004 (GRCm39)	N52K	probably benign	Het
Smu1	A	G	4: 40,738,361 (GRCm39)	Y458H	probably damaging	Het
Spsb3	C	T	17: 25,110,506 (GRCm39)	P317S	unknown	Het
Ssc5d	A	T	7: 4,930,919 (GRCm39)	Q167L	probably damaging	Het
Ssh2	T	C	11: 77,328,454 (GRCm39)	V340A	probably damaging	Het
Stag3	G	A	5: 138,296,296 (GRCm39)	R453H	probably damaging	Het
Svil	T	A	18: 5,056,239 (GRCm39)	F371I	probably benign	Het
Tas2r140	A	C	6: 133,032,181 (GRCm39)	S192R	possibly damaging	Het
Tdrp	T	C	8: 14,003,840 (GRCm39)	I166V	possibly damaging	Het
Tgm3	C	A	2: 129,871,680 (GRCm39)	Q269K	probably benign	Het
Thsd7b	G	A	1: 130,087,426 (GRCm39)	C1181Y	probably damaging	Het
Tinag	A	T	9: 76,934,296 (GRCm39)		probably benign	Het
Tnrc6b	T	C	15: 80,763,179 (GRCm39)	V227A	possibly damaging	Het
Tox3	A	C	8: 90,996,864 (GRCm39)	L133R	possibly damaging	Het
Tshz1	A	T	18: 84,031,639 (GRCm39)	I923N	probably damaging	Het
Vps13c	T	A	9: 67,855,429 (GRCm39)	V2498D	probably damaging	Het
Vps41	T	A	13: 18,994,723 (GRCm39)		probably null	Het
Xylt2	T	C	11: 94,555,462 (GRCm39)	D850G	probably damaging	Het
Zfp229	T	A	17: 21,964,321 (GRCm39)	S184T	possibly damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp595	C	A	13: 67,468,989 (GRCm39)	M12I	probably benign	Het
Zfp750	T	C	11: 121,403,149 (GRCm39)	Q533R	probably benign	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
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
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'- TGGATTGTTCTGCAGAATGAGC -3'
(R):5'- AAGTCTCAGATCCAGGTGGG -3'

Sequencing Primer
(F):5'- TCTGCAGAATGAGCTTCCCCAG -3'
(R):5'- CTCAGATCCAGGTGGGGTAGG -3'

Posted On

2021-11-19