Mutagenetix > Incidental Mutation

Incidental Mutation 'R1178:Hgd'

100183

Institutional Source

Beutler Lab

Gene Symbol

Hgd

Ensembl Gene

ENSMUSG00000022821

Gene Name

homogentisate 1, 2-dioxygenase

Synonyms

MMRRC Submission

039250-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1178 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37400515-37452382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37435756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 115 (I115V)

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: I115V

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000160847
AA Change: I156V

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: I156V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162918

Meta Mutation Damage Score

0.2530

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

98% (51/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	T	13: 81,588,156 (GRCm39)		probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Cep128	G	A	12: 91,226,929 (GRCm39)	T227M	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Dync2h1	C	T	9: 7,101,193 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Gabrg3	C	T	7: 56,384,839 (GRCm39)	V241I	probably benign	Het
Gfpt2	T	C	11: 49,714,136 (GRCm39)	S298P	probably benign	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Heatr5b	A	G	17: 79,120,698 (GRCm39)	L742P	probably damaging	Het
Hmgcll1	A	T	9: 76,037,613 (GRCm39)	D169V	probably damaging	Het
Ifi202b	A	T	1: 173,799,788 (GRCm39)	I231K	probably benign	Het
Itpripl1	A	G	2: 126,983,819 (GRCm39)	I101T	probably benign	Het
Kcnj9	A	G	1: 172,150,530 (GRCm39)	V361A	probably benign	Het
Map4k5	G	A	12: 69,863,152 (GRCm39)	T567M	probably damaging	Het
Ncapd3	A	G	9: 26,952,717 (GRCm39)	D82G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or8d2b	A	G	9: 38,789,051 (GRCm39)	E193G	probably damaging	Het
Or8g50	A	G	9: 39,648,642 (GRCm39)	Y177C	probably damaging	Het
Pfn2	C	T	3: 57,752,766 (GRCm39)	V3I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Psg17	T	C	7: 18,548,380 (GRCm39)	T464A	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab8b	A	G	9: 66,760,249 (GRCm39)	M125T	possibly damaging	Het
Rbl1	T	A	2: 156,989,575 (GRCm39)	M1015L	possibly damaging	Het
Ryr3	T	A	2: 112,794,725 (GRCm39)	Q149L	probably benign	Het
Scn2a	C	A	2: 65,517,123 (GRCm39)		probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Smcr8	G	A	11: 60,670,358 (GRCm39)	R502H	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Stk25	T	C	1: 93,551,111 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,176,779 (GRCm39)	N314D	probably damaging	Het
Tek	T	C	4: 94,692,524 (GRCm39)	C160R	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tll2	T	G	19: 41,081,286 (GRCm39)	D712A	probably damaging	Het
Tmprss13	A	T	9: 45,239,945 (GRCm39)	R84S	unknown	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubr1	T	A	2: 120,756,510 (GRCm39)	K706*	probably null	Het
Upk2	A	T	9: 44,365,470 (GRCm39)	S33T	probably benign	Het
Usp47	T	G	7: 111,709,205 (GRCm39)	M1317R	possibly damaging	Het
Wdr19	T	C	5: 65,381,208 (GRCm39)	Y411H	probably damaging	Het
Zfp143	C	T	7: 109,674,928 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,384,018 (GRCm39)	D105G	probably benign	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	probably null	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
IGL01339:Hgd	APN	16	37,452,092 (GRCm39)	missense	possibly damaging	0.72
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
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

Predicted Primers

Posted On

2014-01-15