Mutagenetix > Incidental Mutation

Incidental Mutation 'R0799:Hgd'

76554

Institutional Source

Beutler Lab

Gene Symbol

Hgd

Ensembl Gene

ENSMUSG00000022821

Gene Name

homogentisate 1, 2-dioxygenase

Synonyms

MMRRC Submission

038979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37580153-37632020 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 37628609 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125492 (fasta)

Gene Model

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

AlphaFold

O09173

Predicted Effect

probably benign
Transcript: ENSMUST00000159787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159938

Predicted Effect

probably benign
Transcript: ENSMUST00000160847

SMART Domains

Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	G	6: 40,928,599	M41T	probably damaging	Het
4921539E11Rik	G	A	4: 103,242,904	T33I	possibly damaging	Het
4930555F03Rik	A	G	8: 49,495,439		noncoding transcript	Het
Abcf3	T	C	16: 20,559,334	L538P	probably damaging	Het
Adamts6	T	C	13: 104,314,271	S321P	probably damaging	Het
Adgra2	G	A	8: 27,112,495	R362H	probably damaging	Het
AI597479	T	G	1: 43,111,170	S147A	probably benign	Het
Ampd3	T	C	7: 110,800,697	F340L	probably damaging	Het
Arntl2	T	C	6: 146,823,253		probably benign	Het
Atad3a	A	G	4: 155,747,470	V449A	probably damaging	Het
Bpifa6	A	T	2: 153,992,272	D328V	probably benign	Het
Brca2	T	C	5: 150,560,193	S2903P	probably damaging	Het
Cct3	A	T	3: 88,299,345		probably null	Het
Cdk4	A	G	10: 127,064,994	T172A	probably damaging	Het
Chd5	A	G	4: 152,384,159	D1760G	probably damaging	Het
Chd7	A	G	4: 8,801,310		probably benign	Het
Crybb2	T	C	5: 113,062,171	I109V	probably benign	Het
Csmd3	A	G	15: 48,185,384		probably benign	Het
Dach1	G	T	14: 98,168,615	T232K	possibly damaging	Het
Dnlz	A	G	2: 26,351,473	V81A	possibly damaging	Het
Epb41l4b	A	G	4: 57,086,003	S191P	probably damaging	Het
Eps15l1	C	T	8: 72,346,085	D821N	probably damaging	Het
Fam186a	G	A	15: 99,942,012	P2117L	probably damaging	Het
Fam83d	T	A	2: 158,779,888	F173Y	probably damaging	Het
Gm9116	A	T	3: 93,910,465	R214S	probably benign	Het
Gm996	A	G	2: 25,578,562	S446P	possibly damaging	Het
Gtpbp1	A	G	15: 79,716,200	I445V	probably damaging	Het
H2-M2	G	A	17: 37,482,749	T122I	probably damaging	Het
Hip1r	A	G	5: 123,996,941	Y380C	probably benign	Het
Hspa8	G	A	9: 40,803,841	G389R	probably damaging	Het
Htt	C	A	5: 34,817,753	D622E	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kdm4a	A	G	4: 118,146,992		probably null	Het
Map3k9	G	A	12: 81,722,269	P1025S	probably benign	Het
Olfr911-ps1	G	A	9: 38,524,141	M136I	probably benign	Het
Pabpc1l	C	A	2: 164,031,214	H135N	probably benign	Het
Pacsin2	A	T	15: 83,379,797	S346R	probably benign	Het
Pcdhb20	A	G	18: 37,505,885	Y488C	probably damaging	Het
Pkdcc	G	A	17: 83,223,918	C452Y	probably damaging	Het
Poglut1	T	C	16: 38,534,721		probably null	Het
Pxk	T	C	14: 8,148,123	F409L	probably benign	Het
Pygm	G	A	19: 6,386,018		probably benign	Het
Rabep2	T	C	7: 126,438,724	S223P	probably damaging	Het
Rpp40	C	T	13: 35,902,051	R109H	probably benign	Het
Sbf2	T	C	7: 110,341,355	Y1266C	possibly damaging	Het
Slc5a4a	T	C	10: 76,176,534	V346A	probably benign	Het
Smpd3	G	T	8: 106,264,789	H377Q	possibly damaging	Het
Sppl2a	C	A	2: 126,920,307		probably benign	Het
Tas2r134	T	C	2: 51,628,373	I288T	probably benign	Het
Trim35	T	A	14: 66,309,201	H472Q	probably damaging	Het
Trpm5	C	A	7: 143,078,351	R907L	probably damaging	Het
Ube2e2	G	T	14: 18,630,393	S56*	probably null	Het
Vmn2r88	A	C	14: 51,414,502	R432S	possibly damaging	Het
Wdr24	A	G	17: 25,826,128	Y279C	probably damaging	Het
Wdr90	A	G	17: 25,860,130	V246A	probably benign	Het
Xrn2	T	A	2: 147,029,898	N385K	probably benign	Het
Zfp28	T	A	7: 6,384,183	S73T	possibly damaging	Het
Zfp345	T	C	2: 150,472,351	E422G	probably benign	Het
Zhx2	A	G	15: 57,821,313	E26G	probably benign	Het

Other mutations in Hgd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Hgd	APN	16	37613249	missense	probably damaging	1.00
IGL00851:Hgd	APN	16	37631695	missense	probably damaging	0.98
IGL01339:Hgd	APN	16	37631730	missense	possibly damaging	0.72
IGL01627:Hgd	APN	16	37621925	missense	probably damaging	0.96
IGL02565:Hgd	APN	16	37615387	missense	possibly damaging	0.88
IGL03098:Hgd	UTSW	16	37616245	missense	probably benign	0.44
R0346:Hgd	UTSW	16	37588774	splice site	probably benign
R0360:Hgd	UTSW	16	37611184	splice site	probably benign
R0426:Hgd	UTSW	16	37588685	splice site	probably benign
R1178:Hgd	UTSW	16	37615394	missense	possibly damaging	0.95
R2921:Hgd	UTSW	16	37618968	missense	probably damaging	1.00
R2922:Hgd	UTSW	16	37618968	missense	probably damaging	1.00
R4791:Hgd	UTSW	16	37631825	makesense	probably null
R4859:Hgd	UTSW	16	37588749	missense	probably damaging	1.00
R5289:Hgd	UTSW	16	37628551	missense	possibly damaging	0.94
R5368:Hgd	UTSW	16	37589751	missense	probably benign	0.33
R5779:Hgd	UTSW	16	37593371	missense	probably benign	0.01
R6140:Hgd	UTSW	16	37589713	missense	probably benign	0.04
R6160:Hgd	UTSW	16	37613298	missense	probably damaging	1.00
R6636:Hgd	UTSW	16	37615374	missense	possibly damaging	0.75
R7196:Hgd	UTSW	16	37588716	missense	probably benign	0.03
R7450:Hgd	UTSW	16	37624324	missense	possibly damaging	0.88
R7580:Hgd	UTSW	16	37618879	missense	possibly damaging	0.67
R7720:Hgd	UTSW	16	37593435	missense	probably benign
R8966:Hgd	UTSW	16	37611170	missense	probably damaging	0.98
R9486:Hgd	UTSW	16	37593449	missense	probably benign	0.34
Z1177:Hgd	UTSW	16	37589719	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCATGGGCCTCATCAAAGGTCAC -3'
(R):5'- TGGCTGGATAGCGTACCCATTCTAC -3'

Sequencing Primer
(F):5'- TCATCAAAGGTCACTATGAGGC -3'
(R):5'- ctcactctcagttcaatctctttc -3'

Posted On

2013-10-16