Mutagenetix > Incidental Mutation

Incidental Mutation 'R6160:Hgd'

489837

Institutional Source

Beutler Lab

Gene Symbol

Hgd

Ensembl Gene

ENSMUSG00000022821

Gene Name

homogentisate 1, 2-dioxygenase

Synonyms

MMRRC Submission

044307-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37400515-37452382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37433660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 134 (H134R)

Ref Sequence

ENSEMBL: ENSMUSP00000125492 (fasta)

Gene Model

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

AlphaFold

O09173

Predicted Effect

probably damaging
Transcript: ENSMUST00000159787
AA Change: H93R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000160847
AA Change: H134R

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

SMART Domains

Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: H134R

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

0.9515

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

94% (62/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,642,950 (GRCm39)	S297R	possibly damaging	Het
5530400C23Rik	A	G	6: 133,271,289 (GRCm39)	E111G	possibly damaging	Het
8030423J24Rik	T	A	13: 71,032,029 (GRCm39)	S34T	unknown	Het
Ace3	T	A	11: 105,885,558 (GRCm39)	W20R	possibly damaging	Het
Adgrf1	A	G	17: 43,621,578 (GRCm39)	E605G	probably damaging	Het
Arhgap44	G	A	11: 65,053,375 (GRCm39)		probably benign	Het
Atm	A	C	9: 53,402,259 (GRCm39)	H1404Q	probably benign	Het
AW209491	A	G	13: 14,811,306 (GRCm39)	E53G	probably damaging	Het
Bhmt1b	G	A	18: 87,775,245 (GRCm39)	C256Y	probably damaging	Het
Cdt1	C	T	8: 123,298,107 (GRCm39)	T366I	probably benign	Het
Cerk	A	T	15: 86,026,974 (GRCm39)	C179S	probably benign	Het
Cldn10	T	C	14: 119,099,255 (GRCm39)	V123A	possibly damaging	Het
Clip1	T	C	5: 123,751,604 (GRCm39)	K726E	possibly damaging	Het
Dcaf12	A	T	4: 41,294,043 (GRCm39)	Y365N	probably damaging	Het
Dennd6b	A	G	15: 89,073,024 (GRCm39)	L171P	probably damaging	Het
Dip2c	G	A	13: 9,583,290 (GRCm39)	V91I	probably benign	Het
Dlec1	A	G	9: 118,972,387 (GRCm39)	I1431V	probably benign	Het
Egln1	T	C	8: 125,675,231 (GRCm39)	D188G	probably damaging	Het
Enpp5	T	A	17: 44,392,259 (GRCm39)	N229K	possibly damaging	Het
Fmo1	T	G	1: 162,663,867 (GRCm39)	I221L	probably benign	Het
Fsip2	G	A	2: 82,818,289 (GRCm39)	W4674*	probably null	Het
Gm12185	G	A	11: 48,799,255 (GRCm39)	Q413*	probably null	Het
Gm7298	A	T	6: 121,741,886 (GRCm39)	H436L	probably benign	Het
Gucy2c	G	A	6: 136,717,684 (GRCm39)	Q430*	probably null	Het
Hoxd8	A	G	2: 74,536,343 (GRCm39)	E151G	probably damaging	Het
Il15ra	A	G	2: 11,724,827 (GRCm39)	D99G	probably damaging	Het
Ints4	T	A	7: 97,158,790 (GRCm39)		probably null	Het
Itgb1	T	A	8: 129,446,764 (GRCm39)	F426L	possibly damaging	Het
Itpr1	A	C	6: 108,495,716 (GRCm39)	I2534L	probably benign	Het
Kcnq4	T	A	4: 120,573,756 (GRCm39)	H235L	probably damaging	Het
Kcnt1	T	A	2: 25,782,395 (GRCm39)	I178N	probably damaging	Het
Kidins220	A	G	12: 25,047,310 (GRCm39)	D252G	probably damaging	Het
Krt23	A	G	11: 99,376,544 (GRCm39)	I204T	probably damaging	Het
Lipo4	A	G	19: 33,480,693 (GRCm39)	L225P	probably damaging	Het
Lrp3	T	C	7: 34,903,548 (GRCm39)	D245G	possibly damaging	Het
Mmp16	A	G	4: 18,051,857 (GRCm39)	D282G	probably damaging	Het
Myo1c	A	T	11: 75,541,568 (GRCm39)	H18L	probably benign	Het
Myo1f	C	A	17: 33,823,318 (GRCm39)	P981Q	probably benign	Het
Nle1	A	T	11: 82,798,983 (GRCm39)	F33I	probably benign	Het
Nlrp4e	T	G	7: 23,020,731 (GRCm39)	M406R	probably damaging	Het
Obscn	A	T	11: 58,942,611 (GRCm39)	V4857E	probably damaging	Het
Palb2	A	T	7: 121,727,643 (GRCm39)		probably null	Het
Phospho1	A	T	11: 95,721,450 (GRCm39)	E22V	probably damaging	Het
Pom121l2	C	T	13: 22,167,838 (GRCm39)	S703L	possibly damaging	Het
Prex2	T	C	1: 11,064,075 (GRCm39)	L20P	probably damaging	Het
Psmb7	T	C	2: 38,533,393 (GRCm39)	T45A	probably damaging	Het
R3hdm2	T	C	10: 127,320,376 (GRCm39)	I532T	probably damaging	Het
Rcn1	T	C	2: 105,222,362 (GRCm39)	D208G	probably damaging	Het
Recql5	A	G	11: 115,823,613 (GRCm39)		probably null	Het
Resf1	G	A	6: 149,233,005 (GRCm39)		probably null	Het
Rfc4	A	T	16: 22,933,433 (GRCm39)	I242N	probably damaging	Het
Rims1	T	C	1: 22,503,235 (GRCm39)	Y650C	probably damaging	Het
Shc2	C	T	10: 79,462,853 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,202,190 (GRCm39)		probably null	Het
Slc6a6	A	T	6: 91,716,995 (GRCm39)		probably null	Het
Synj2	C	A	17: 6,058,336 (GRCm39)	H275N	possibly damaging	Het
T	A	T	17: 8,660,618 (GRCm39)	T410S	probably benign	Het
Tars3	A	G	7: 65,332,527 (GRCm39)	I543V	probably benign	Het
Tbc1d8	T	A	1: 39,411,484 (GRCm39)	K1117N	probably damaging	Het
Tm7sf3	A	T	6: 146,507,787 (GRCm39)	L425*	probably null	Het
Trav14-3	A	G	14: 54,000,978 (GRCm39)	Y63C	probably damaging	Het
Tyro3	A	C	2: 119,633,751 (GRCm39)	D133A	probably damaging	Het
Vmn1r119	T	G	7: 20,745,740 (GRCm39)	H214P	possibly damaging	Het
Vmn2r120	G	A	17: 57,816,418 (GRCm39)	P646S	probably benign	Het
Zbtb7c	A	T	18: 76,278,904 (GRCm39)	Y454F	probably benign	Het
Zmym2	T	C	14: 57,187,766 (GRCm39)	L1144P	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
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

PCR Primer
(F):5'- TGATCCCAAATGGCCCCTAG -3'
(R):5'- TTCGTCACAAGGCCCTAAC -3'

Sequencing Primer
(F):5'- CCTAGGGCATTCTCAAAGGG -3'
(R):5'- GAGTACAATGTCGCTGTCTTCAGAC -3'

Posted On

2017-10-10