Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37580153-37632020 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37613298 bp

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]

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
2810474O19Rik	G	A	6: 149,331,507		probably null	Het
4930433I11Rik	T	A	7: 40,993,526	S297R	possibly damaging	Het
5530400C23Rik	A	G	6: 133,294,326	E111G	possibly damaging	Het
8030423J24Rik	T	A	13: 70,883,910	S34T	unknown	Het
Ace3	T	A	11: 105,994,732	W20R	possibly damaging	Het
Adgrf1	A	G	17: 43,310,687	E605G	probably damaging	Het
Arhgap44	G	A	11: 65,162,549		probably benign	Het
Atm	A	C	9: 53,490,959	H1404Q	probably benign	Het
AW209491	A	G	13: 14,636,721	E53G	probably damaging	Het
Cdt1	C	T	8: 122,571,368	T366I	probably benign	Het
Cerk	A	T	15: 86,142,773	C179S	probably benign	Het
Cldn10	T	C	14: 118,861,843	V123A	possibly damaging	Het
Clip1	T	C	5: 123,613,541	K726E	possibly damaging	Het
Dcaf12	A	T	4: 41,294,043	Y365N	probably damaging	Het
Dennd6b	A	G	15: 89,188,821	L171P	probably damaging	Het
Dip2c	G	A	13: 9,533,254	V91I	probably benign	Het
Dlec1	A	G	9: 119,143,319	I1431V	probably benign	Het
Egln1	T	C	8: 124,948,492	D188G	probably damaging	Het
Enpp5	T	A	17: 44,081,368	N229K	possibly damaging	Het
Fmo1	T	G	1: 162,836,298	I221L	probably benign	Het
Fsip2	G	A	2: 82,987,945	W4674*	probably null	Het
Gm12185	G	A	11: 48,908,428	Q413*	probably null	Het
Gm5096	G	A	18: 87,757,121	C256Y	probably damaging	Het
Gm7298	A	T	6: 121,764,927	H436L	probably benign	Het
Gucy2c	G	A	6: 136,740,686	Q430*	probably null	Het
Hoxd8	A	G	2: 74,705,999	E151G	probably damaging	Het
Il15ra	A	G	2: 11,720,016	D99G	probably damaging	Het
Ints4	T	A	7: 97,509,583		probably null	Het
Itgb1	T	A	8: 128,720,283	F426L	possibly damaging	Het
Itpr1	A	C	6: 108,518,755	I2534L	probably benign	Het
Kcnq4	T	A	4: 120,716,559	H235L	probably damaging	Het
Kcnt1	T	A	2: 25,892,383	I178N	probably damaging	Het
Kidins220	A	G	12: 24,997,311	D252G	probably damaging	Het
Krt23	A	G	11: 99,485,718	I204T	probably damaging	Het
Lipo4	A	G	19: 33,503,293	L225P	probably damaging	Het
Lrp3	T	C	7: 35,204,123	D245G	possibly damaging	Het
Mmp16	A	G	4: 18,051,857	D282G	probably damaging	Het
Myo1c	A	T	11: 75,650,742	H18L	probably benign	Het
Myo1f	C	A	17: 33,604,344	P981Q	probably benign	Het
Nle1	A	T	11: 82,908,157	F33I	probably benign	Het
Nlrp4e	T	G	7: 23,321,306	M406R	probably damaging	Het
Obscn	A	T	11: 59,051,785	V4857E	probably damaging	Het
Palb2	A	T	7: 122,128,420		probably null	Het
Phospho1	A	T	11: 95,830,624	E22V	probably damaging	Het
Pom121l2	C	T	13: 21,983,668	S703L	possibly damaging	Het
Prex2	T	C	1: 10,993,851	L20P	probably damaging	Het
Psmb7	T	C	2: 38,643,381	T45A	probably damaging	Het
R3hdm2	T	C	10: 127,484,507	I532T	probably damaging	Het
Rcn1	T	C	2: 105,392,017	D208G	probably damaging	Het
Recql5	A	G	11: 115,932,787		probably null	Het
Rfc4	A	T	16: 23,114,683	I242N	probably damaging	Het
Rims1	T	C	1: 22,432,984	Y650C	probably damaging	Het
Shc2	C	T	10: 79,627,019		probably null	Het
Slc14a2	A	T	18: 78,158,975		probably null	Het
Slc6a6	A	T	6: 91,740,014		probably null	Het
Synj2	C	A	17: 6,008,061	H275N	possibly damaging	Het
T	A	T	17: 8,441,786	T410S	probably benign	Het
Tarsl2	A	G	7: 65,682,779	I543V	probably benign	Het
Tbc1d8	T	A	1: 39,372,403	K1117N	probably damaging	Het
Tm7sf3	A	T	6: 146,606,289	L425*	probably null	Het
Trav14-3	A	G	14: 53,763,521	Y63C	probably damaging	Het
Tyro3	A	C	2: 119,803,270	D133A	probably damaging	Het
Vmn1r119	T	G	7: 21,011,815	H214P	possibly damaging	Het
Vmn2r120	G	A	17: 57,509,418	P646S	probably benign	Het
Zbtb7c	A	T	18: 76,145,833	Y454F	probably benign	Het
Zmym2	T	C	14: 56,950,309	L1144P	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
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
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
Z1177:Hgd	UTSW	16	37589719	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