Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01339:Hgd'

74744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hgd

Ensembl Gene

ENSMUSG00000022821

Gene Name

homogentisate 1, 2-dioxygenase

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01339

Quality Score

Status

Chromosome

Chromosomal Location

37400515-37452382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 37452092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 374 (T374P)

Ref Sequence

ENSEMBL: ENSMUSP00000156254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159787] [ENSMUST00000160847]

AlphaFold

O09173

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159787
AA Change: T374P

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159938

Predicted Effect

probably benign
Transcript: ENSMUST00000160847
AA Change: T415P

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: T415P

Domain	Start	End	E-Value	Type
Pfam:HgmA	5	434	2e-225	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
PHENOTYPE: Mutations in this gene result in high levels of urinary homogentisic acid. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahcc1	A	G	11: 120,180,338 (GRCm39)	T2565A	probably damaging	Het
C8a	A	C	4: 104,685,182 (GRCm39)	F354V	probably benign	Het
Cadps	C	T	14: 12,486,543 (GRCm38)	V876M	possibly damaging	Het
Chmp7	A	T	14: 69,956,855 (GRCm39)	I351N	probably damaging	Het
Clec7a	A	T	6: 129,442,449 (GRCm39)	W193R	probably damaging	Het
Clint1	T	C	11: 45,799,846 (GRCm39)	V535A	probably benign	Het
Clu	A	G	14: 66,213,037 (GRCm39)	E141G	probably damaging	Het
Cmah	A	T	13: 24,614,532 (GRCm39)	D159V	probably damaging	Het
Cntn2	A	T	1: 132,446,643 (GRCm39)		probably null	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cyp2d10	C	T	15: 82,288,042 (GRCm39)	A195T	probably benign	Het
Dnah10	G	T	5: 124,854,276 (GRCm39)	K1901N	probably damaging	Het
Dnai3	T	C	3: 145,748,591 (GRCm39)	Y841C	probably benign	Het
Dop1a	G	A	9: 86,433,730 (GRCm39)	D2329N	possibly damaging	Het
Eipr1	A	G	12: 28,914,770 (GRCm39)	E308G	probably damaging	Het
Exoc4	T	C	6: 33,282,335 (GRCm39)		probably benign	Het
Fancd2	A	G	6: 113,530,713 (GRCm39)	I449V	probably benign	Het
Fbn2	T	C	18: 58,246,442 (GRCm39)	T487A	possibly damaging	Het
Fbxo40	T	C	16: 36,790,816 (GRCm39)	E98G	probably damaging	Het
Folh1	G	A	7: 86,375,306 (GRCm39)	T527I	probably damaging	Het
Gls	C	T	1: 52,227,867 (GRCm39)	D217N	probably damaging	Het
Gm6994	A	G	14: 77,718,618 (GRCm39)		probably benign	Het
Gpr149	A	T	3: 62,511,718 (GRCm39)	W94R	probably damaging	Het
Gpr158	A	G	2: 21,373,842 (GRCm39)	D259G	possibly damaging	Het
Hcn2	T	C	10: 79,564,902 (GRCm39)	L438P	probably damaging	Het
Ints3	A	G	3: 90,322,463 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,276,749 (GRCm39)	V172E	probably damaging	Het
Lmcd1	A	G	6: 112,287,586 (GRCm39)	I91V	probably benign	Het
Lrrc37a	A	G	11: 103,388,763 (GRCm39)	S2221P	unknown	Het
Ltk	T	A	2: 119,583,455 (GRCm39)	D310V	probably damaging	Het
Luzp1	T	A	4: 136,270,087 (GRCm39)	M770K	probably damaging	Het
Mxd4	G	A	5: 34,341,690 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,781,399 (GRCm39)	H71L	probably benign	Het
Necap2	G	A	4: 140,802,276 (GRCm39)	T63I	probably benign	Het
Nefl	A	G	14: 68,323,931 (GRCm39)		probably benign	Het
Odam	G	A	5: 88,033,755 (GRCm39)		probably null	Het
Pcdh18	A	G	3: 49,710,247 (GRCm39)	I356T	probably benign	Het
Pcx	T	A	19: 4,670,263 (GRCm39)		probably null	Het
Pde2a	T	C	7: 101,156,366 (GRCm39)	S593P	probably benign	Het
Rapgef3	A	T	15: 97,655,940 (GRCm39)	L359M	probably damaging	Het
Rb1	T	C	14: 73,501,811 (GRCm39)		probably null	Het
Rbm44	A	G	1: 91,096,686 (GRCm39)	I976V	probably benign	Het
Rdh13	A	T	7: 4,430,623 (GRCm39)	S278R	probably damaging	Het
Rgma	A	G	7: 73,067,231 (GRCm39)	E256G	probably damaging	Het
Rnf112	A	T	11: 61,341,303 (GRCm39)	D402E	probably benign	Het
Rnps1	T	A	17: 24,641,273 (GRCm39)	D224E	probably damaging	Het
Scn10a	C	T	9: 119,451,832 (GRCm39)	V1364M	probably damaging	Het
Scn1a	C	T	2: 66,156,304 (GRCm39)	R535H	probably benign	Het
Scn8a	A	T	15: 100,930,082 (GRCm39)	D1431V	probably benign	Het
Setdb1	A	T	3: 95,245,891 (GRCm39)	L677*	probably null	Het
Slc17a8	T	A	10: 89,427,106 (GRCm39)	I148F	probably damaging	Het
Slx4ip	T	A	2: 136,885,975 (GRCm39)	C98*	probably null	Het
Sptbn2	T	G	19: 4,796,000 (GRCm39)	Y1726*	probably null	Het
Tcof1	T	C	18: 60,951,167 (GRCm39)		probably benign	Het
Tdrd3	G	A	14: 87,718,230 (GRCm39)	V210I	possibly damaging	Het
Tdrd9	G	A	12: 112,006,868 (GRCm39)	V911M	probably damaging	Het
Tmod4	G	A	3: 95,035,608 (GRCm39)	R252H	probably benign	Het
Tti1	G	T	2: 157,851,050 (GRCm39)	P63Q	possibly damaging	Het
Tuft1	A	T	3: 94,535,594 (GRCm39)	D109E	probably damaging	Het
Zcchc2	T	C	1: 105,957,505 (GRCm39)	S659P	probably damaging	Het

Other mutations in Hgd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Hgd	APN	16	37,433,611 (GRCm39)	missense	probably damaging	1.00
IGL00851:Hgd	APN	16	37,452,057 (GRCm39)	missense	probably damaging	0.98
IGL01627:Hgd	APN	16	37,442,287 (GRCm39)	missense	probably damaging	0.96
IGL02565:Hgd	APN	16	37,435,749 (GRCm39)	missense	possibly damaging	0.88
IGL03098:Hgd	UTSW	16	37,436,607 (GRCm39)	missense	probably benign	0.44
R0346:Hgd	UTSW	16	37,409,136 (GRCm39)	splice site	probably benign
R0360:Hgd	UTSW	16	37,431,546 (GRCm39)	splice site	probably benign
R0426:Hgd	UTSW	16	37,409,047 (GRCm39)	splice site	probably benign
R0799:Hgd	UTSW	16	37,448,971 (GRCm39)	splice site	probably benign
R1178:Hgd	UTSW	16	37,435,756 (GRCm39)	missense	possibly damaging	0.95
R2921:Hgd	UTSW	16	37,439,330 (GRCm39)	missense	probably damaging	1.00
R2922:Hgd	UTSW	16	37,439,330 (GRCm39)	missense	probably damaging	1.00
R4791:Hgd	UTSW	16	37,452,187 (GRCm39)	makesense	probably null
R4859:Hgd	UTSW	16	37,409,111 (GRCm39)	missense	probably damaging	1.00
R5289:Hgd	UTSW	16	37,448,913 (GRCm39)	missense	possibly damaging	0.94
R5368:Hgd	UTSW	16	37,410,113 (GRCm39)	missense	probably benign	0.33
R5779:Hgd	UTSW	16	37,413,733 (GRCm39)	missense	probably benign	0.01
R6140:Hgd	UTSW	16	37,410,075 (GRCm39)	missense	probably benign	0.04
R6160:Hgd	UTSW	16	37,433,660 (GRCm39)	missense	probably damaging	1.00
R6636:Hgd	UTSW	16	37,435,736 (GRCm39)	missense	possibly damaging	0.75
R7196:Hgd	UTSW	16	37,409,078 (GRCm39)	missense	probably benign	0.03
R7450:Hgd	UTSW	16	37,444,686 (GRCm39)	missense	possibly damaging	0.88
R7580:Hgd	UTSW	16	37,439,241 (GRCm39)	missense	possibly damaging	0.67
R7720:Hgd	UTSW	16	37,413,797 (GRCm39)	missense	probably benign
R8966:Hgd	UTSW	16	37,431,532 (GRCm39)	missense	probably damaging	0.98
R9486:Hgd	UTSW	16	37,413,811 (GRCm39)	missense	probably benign	0.34
Z1177:Hgd	UTSW	16	37,410,081 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07