Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Hgd'

595194

Institutional Source

Beutler Lab

Gene Symbol

Hgd

Ensembl Gene

ENSMUSG00000022821

Gene Name

homogentisate 1, 2-dioxygenase

Synonyms

MMRRC Submission

067892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37400515-37452382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37413797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 86 (D86E)

Ref Sequence

ENSEMBL: ENSMUSP00000125492 (fasta)

Gene Model

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

AlphaFold

O09173

Predicted Effect

probably benign
Transcript: ENSMUST00000159787
AA Change: D45E

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000160847
AA Change: D86E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: D86E

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

Meta Mutation Damage Score

0.0583

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,926,957 (GRCm39)	D1018G	probably damaging	Het
Atm	T	C	9: 53,433,539 (GRCm39)	N237S	possibly damaging	Het
Card6	G	T	15: 5,127,905 (GRCm39)	Q1164K	unknown	Het
Ccdc202	A	G	14: 96,119,548 (GRCm39)	R102G	probably benign	Het
Cped1	G	A	6: 22,222,430 (GRCm39)	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,981,108 (GRCm39)	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,517,072 (GRCm39)	T87A	probably damaging	Het
Dock4	T	C	12: 40,856,974 (GRCm39)	I1269T	probably damaging	Het
F11	T	C	8: 45,705,127 (GRCm39)	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,177,974 (GRCm39)	S342P	probably damaging	Het
Garin2	T	C	12: 78,758,907 (GRCm39)	S76P	probably damaging	Het
Gipr	T	C	7: 18,896,884 (GRCm39)	I129V	probably benign	Het
Gria4	A	T	9: 4,464,288 (GRCm39)	V558D	probably damaging	Het
Gsdme	C	T	6: 50,206,288 (GRCm39)	G185E	probably damaging	Het
Hapstr1	T	A	16: 8,660,966 (GRCm39)	C148S	probably damaging	Het
Hmcn1	T	A	1: 150,522,460 (GRCm39)	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,159,783 (GRCm39)	N127D	probably damaging	Het
Ilf3	A	G	9: 21,310,833 (GRCm39)	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,664,971 (GRCm39)	G1132R	unknown	Het
Jakmip2	A	G	18: 43,704,973 (GRCm39)	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,266,812 (GRCm39)	V1670A	probably benign	Het
Lman2	A	T	13: 55,500,890 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,692,119 (GRCm39)	Y1579F	probably damaging	Het
Mon2	G	A	10: 122,868,493 (GRCm39)	A520V	probably benign	Het
Mrpl10	T	G	11: 96,938,363 (GRCm39)	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,537,838 (GRCm39)	T153S	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nlrp10	A	G	7: 108,523,695 (GRCm39)	V595A	probably benign	Het
Nol4	A	T	18: 23,173,080 (GRCm39)	M7K	probably benign	Het
Oasl1	G	A	5: 115,067,980 (GRCm39)	S188N	probably damaging	Het
Or2d3c	C	A	7: 106,526,618 (GRCm39)	G16V	probably benign	Het
Or5h25	T	C	16: 58,930,134 (GRCm39)	I280V	probably benign	Het
Pcdhga2	A	G	18: 37,802,993 (GRCm39)	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,406,538 (GRCm39)	A263V	probably benign	Het
Phf3	T	G	1: 30,868,938 (GRCm39)	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,490,367 (GRCm39)	P5A	probably damaging	Het
Plekha6	T	C	1: 133,221,445 (GRCm39)	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,596,250 (GRCm39)	I305N	probably damaging	Het
Prex2	A	G	1: 11,252,161 (GRCm39)	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,690,403 (GRCm39)	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703 (GRCm38)	N995S	probably benign	Het
Robo2	C	A	16: 73,693,903 (GRCm39)	G1375V	probably benign	Het
Rtl1	T	C	12: 109,560,864 (GRCm39)	Y325C	possibly damaging	Het
Semp2l1	T	C	1: 32,585,178 (GRCm39)	D244G	probably benign	Het
Shcbp1	A	C	8: 4,798,720 (GRCm39)	S400A	probably damaging	Het
Shfl	C	T	9: 20,780,155 (GRCm39)		probably benign	Het
Sirpb1c	T	A	3: 15,886,236 (GRCm39)	Y380F	probably benign	Het
Tbl2	G	C	5: 135,188,329 (GRCm39)	L374F	probably damaging	Het
Tpr	C	A	1: 150,305,283 (GRCm39)	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Vps16	C	T	2: 130,283,623 (GRCm39)	Q606*	probably null	Het
Vstm5	A	T	9: 15,150,652 (GRCm39)	Q29L	probably benign	Het
Wipi1	G	T	11: 109,473,249 (GRCm39)	S250Y	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
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
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
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

PCR Primer
(F):5'- GTGACTTCTTGATGGCACCTC -3'
(R):5'- GGAATACACTTTGCTCTCCTTG -3'

Sequencing Primer
(F):5'- GCACCTCCAGAGCCAGTC -3'
(R):5'- CCAATCAAAGCATTTCAAGATCCC -3'

Posted On

2019-11-12