Mutagenetix > Incidental Mutations

Incidental Mutation 'R4859:Hgd'

372361

Institutional Source

Beutler Lab

Gene Symbol

Hgd

Ensembl Gene

ENSMUSG00000022821

Gene Name

homogentisate 1, 2-dioxygenase

Synonyms

MMRRC Submission

042470-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37580153-37632020 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37588749 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 25 (L25P)

Ref Sequence

ENSEMBL: ENSMUSP00000125492 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159787
AA Change: C14R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000160847
AA Change: L25P

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

SMART Domains

Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: L25P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231668

Meta Mutation Damage Score

0.9575

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	G	T	11: 29,825,178	A93E	probably damaging	Het
Adam25	T	A	8: 40,754,543	V282E	probably benign	Het
Adam26b	T	C	8: 43,520,259	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,545,989	N661D	probably damaging	Het
Adck1	G	A	12: 88,441,095	A199T	probably benign	Het
Adhfe1	A	G	1: 9,558,213	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 45,147,307	R256H	probably benign	Het
Ap5z1	T	C	5: 142,473,993	M466T	possibly damaging	Het
Aspm	C	T	1: 139,469,393	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,945,980	T743S	probably benign	Het
Bag2	G	T	1: 33,746,941	T100K	probably damaging	Het
Camk2a	A	G	18: 60,943,174		probably benign	Het
Ccdc158	A	G	5: 92,633,403	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,725,430	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,332	V405A	probably benign	Het
Ces2g	T	C	8: 104,967,462		probably null	Het
Cfap157	A	G	2: 32,777,542	F510L	probably benign	Het
Chd3	A	T	11: 69,359,896	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,627,464	A168T	probably damaging	Het
Crybg1	A	G	10: 43,992,569	V1371A	probably damaging	Het
Dars2	A	G	1: 161,044,990	L547P	probably damaging	Het
Dis3	A	G	14: 99,087,790	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,356,602	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 66,829,439	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,682,173	F509L	probably benign	Het
Evc	T	C	5: 37,300,909	T85A	probably damaging	Het
Fam196b	A	G	11: 34,403,154	S399G	probably benign	Het
Farsb	T	C	1: 78,467,972	T283A	probably benign	Het
Fgf14	C	A	14: 124,192,433	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,478,401	L363P	probably damaging	Het
Gcg	A	G	2: 62,476,845	V124A	probably damaging	Het
Glb1l	A	G	1: 75,200,319		probably benign	Het
Gm11757	A	G	4: 73,887,220	S351P	probably damaging	Het
Gm5431	T	C	11: 48,889,582	E449G	probably damaging	Het
Gon4l	T	C	3: 88,895,348	S1089P	probably benign	Het
Hnf1a	T	C	5: 114,955,252	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,967,257	V71G	possibly damaging	Het
Hydin	T	C	8: 110,506,494	S1742P	possibly damaging	Het
Kank2	T	C	9: 21,779,782	E552G	probably benign	Het
Kcnq4	C	A	4: 120,716,613	R217L	probably damaging	Het
Klrg2	T	C	6: 38,627,605	*201W	probably null	Het
Kndc1	T	C	7: 139,921,905	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Lonp1	A	G	17: 56,626,587	V96A	probably benign	Het
Mgat4e	T	C	1: 134,541,740	K189E	possibly damaging	Het
Msh2	G	A	17: 87,718,759	V722I	possibly damaging	Het
N4bp2	T	C	5: 65,825,298	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,436,037	K862T	probably damaging	Het
Notch4	A	T	17: 34,587,180	Q1750L	probably damaging	Het
Obscn	C	T	11: 59,082,023	V2066I	possibly damaging	Het
Olfr1031	T	C	2: 85,992,731	S305P	probably damaging	Het
Olfr1211	T	A	2: 88,930,283	I11L	probably benign	Het
Olfr1307	A	T	2: 111,944,811	I215N	probably damaging	Het
Olfr1396	T	C	11: 49,113,166	K187E	probably damaging	Het
Olfr607	A	T	7: 103,461,036	Y57*	probably null	Het
Pde7a	T	A	3: 19,241,491		probably benign	Het
Pign	A	T	1: 105,648,167	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,026,464	E87D	probably damaging	Het
Prss3	T	A	6: 41,373,923	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,636,163	E413G	probably benign	Het
Rnf150	A	G	8: 82,864,083	H25R	probably damaging	Het
Scamp2	T	C	9: 57,581,651		probably null	Het
Scap	T	A	9: 110,374,342		probably benign	Het
Sdc2	A	C	15: 33,032,456	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,667,564		probably null	Het
Sh3tc2	A	G	18: 62,013,093	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,348,145	I46T	probably damaging	Het
Slfn8	A	G	11: 83,017,714	M1T	probably null	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Soga3	A	C	10: 29,150,394	M491L	probably benign	Het
Spata1	C	G	3: 146,469,774	D326H	probably damaging	Het
Tbck	T	G	3: 132,801,527	S753R	probably benign	Het
Tdp1	A	G	12: 99,909,811	I340M	probably benign	Het
Tmprss6	T	A	15: 78,446,677	Y50F	probably damaging	Het
Trank1	T	A	9: 111,365,010	S701T	probably benign	Het
Trbv17	A	T	6: 41,163,289	N26I	probably benign	Het
Trip12	A	T	1: 84,793,810	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,601,403	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 86,148,403	V734A	probably benign	Het
Wfdc11	A	T	2: 164,665,495	M14K	probably null	Het
Xcr1	T	A	9: 123,856,647	M17L	probably benign	Het
Zbtb40	A	G	4: 136,988,759	I965T	probably damaging	Het
Zfp760	A	T	17: 21,723,530	H562L	probably damaging	Het
Zfp760	A	T	17: 21,723,535	R564*	probably null	Het
Znf41-ps	T	A	4: 145,828,713		noncoding transcript	Het
Zyg11a	A	T	4: 108,210,190	I41N	probably damaging	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
R0799:Hgd	UTSW	16	37628609	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
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

Predicted Primers

PCR Primer
(F):5'- GCCTTTGTAGAATGCCAGTG -3'
(R):5'- TGCTGTGACTAATTGCCGATG -3'

Sequencing Primer
(F):5'- TGATCACTTGCAGCTCAGG -3'
(R):5'- CTGTGACTAATTGCCGATGTAAATCC -3'

Posted On

2016-03-01