Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01526:Hmbs'

89569

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hmbs

Ensembl Gene

ENSMUSG00000032126

Gene Name

hydroxymethylbilane synthase

Synonyms

Uros1, Ups, porphobilinogen deaminase, PBGD

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01526

Quality Score

Status

Chromosome

Chromosomal Location

44247645-44255525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44250845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 126 (V126A)

Ref Sequence

ENSEMBL: ENSMUSP00000095166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052686] [ENSMUST00000077353] [ENSMUST00000097558] [ENSMUST00000215091] [ENSMUST00000216852]

AlphaFold

P22907

Predicted Effect

probably benign
Transcript: ENSMUST00000052686

SMART Domains

Protein: ENSMUSP00000051432
Gene: ENSMUSG00000049932

Domain	Start	End	E-Value	Type
H2A	3	123	1.64e-81	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077353
AA Change: V143A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076575
Gene: ENSMUSG00000032126
AA Change: V143A

Domain	Start	End	E-Value	Type
Pfam:Porphobil_deam	21	233	1.7e-79	PFAM
Pfam:Porphobil_deamC	244	323	6.8e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097558
AA Change: V126A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095166
Gene: ENSMUSG00000032126
AA Change: V126A

Domain	Start	End	E-Value	Type
Pfam:Porphobil_deam	3	219	3.9e-95	PFAM
Pfam:Porphobil_deamC	227	327	4.7e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214967

Predicted Effect

probably benign
Transcript: ENSMUST00000215091

Predicted Effect

probably benign
Transcript: ENSMUST00000216852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215859

Predicted Effect

probably benign
Transcript: ENSMUST00000216658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215934

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for one null allele and a functional allele with a milder mutation exhibit typical features of acute intermittent porphyria with massive urinary excretion of aminolevulinic acid after phenobarbital treatment, erythruria, ataxia, motor dysfunction, and neurologic muscle atrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	G	T	4: 155,818,628 (GRCm39)		probably benign	Het
4933430I17Rik	G	T	4: 62,450,858 (GRCm39)	R107L	possibly damaging	Het
Acvr1	A	T	2: 58,348,997 (GRCm39)	D388E	probably benign	Het
Art3	T	C	5: 92,562,199 (GRCm39)	S354P	probably damaging	Het
Bpnt1	C	A	1: 185,077,591 (GRCm39)	S102*	probably null	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Cfap65	A	T	1: 74,950,237 (GRCm39)	S1171T	probably damaging	Het
Cracd	T	A	5: 77,005,478 (GRCm39)	M613K	unknown	Het
Csn2	T	C	5: 87,842,838 (GRCm39)	H47R	possibly damaging	Het
Gm14496	T	A	2: 181,637,458 (GRCm39)	D177E	probably benign	Het
Ica1l	A	G	1: 60,054,916 (GRCm39)	M105T	probably damaging	Het
Morc2a	G	A	11: 3,600,428 (GRCm39)	E17K	probably benign	Het
Mroh8	T	C	2: 157,080,232 (GRCm39)		probably benign	Het
Mroh9	G	T	1: 162,883,172 (GRCm39)	L436I	probably damaging	Het
Nup54	T	C	5: 92,565,334 (GRCm39)	D461G	probably benign	Het
Or10ag2	A	T	2: 87,249,319 (GRCm39)	D309V	probably damaging	Het
Or2t45	A	G	11: 58,669,123 (GRCm39)	T57A	probably benign	Het
Pcid2	G	A	8: 13,135,319 (GRCm39)		probably benign	Het
Ppp1r3b	G	T	8: 35,851,872 (GRCm39)	R237L	probably benign	Het
Prdm11	A	G	2: 92,843,102 (GRCm39)	V119A	probably damaging	Het
S100a7l2	T	A	3: 90,995,612 (GRCm39)		probably benign	Het
Serpina5	T	A	12: 104,068,149 (GRCm39)	V70E	probably damaging	Het
Skap2	C	T	6: 51,884,894 (GRCm39)	D249N	probably benign	Het
Slc22a29	A	T	19: 8,184,542 (GRCm39)		probably benign	Het
Slc4a1ap	C	A	5: 31,685,571 (GRCm39)	T283K	possibly damaging	Het
Slc6a21	T	G	7: 44,937,220 (GRCm39)	I575S	probably damaging	Het
Smpd1	T	G	7: 105,203,982 (GRCm39)	W82G	probably benign	Het
Snx14	T	A	9: 88,263,553 (GRCm39)	M897L	probably damaging	Het
Tjp1	A	G	7: 64,972,406 (GRCm39)	V586A	probably damaging	Het
Tmc8	T	C	11: 117,682,910 (GRCm39)		probably benign	Het
Trim34a	A	G	7: 103,909,706 (GRCm39)	Y298C	probably damaging	Het
Ube3c	T	C	5: 29,872,960 (GRCm39)	V1000A	probably damaging	Het

Other mutations in Hmbs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02312:Hmbs	APN	9	44,252,510 (GRCm39)	critical splice donor site	probably null
R0386:Hmbs	UTSW	9	44,248,305 (GRCm39)	missense	probably benign	0.06
R0411:Hmbs	UTSW	9	44,252,949 (GRCm39)	nonsense	probably null
R0656:Hmbs	UTSW	9	44,248,657 (GRCm39)	missense	probably benign	0.31
R1503:Hmbs	UTSW	9	44,248,729 (GRCm39)	missense	probably benign	0.42
R1560:Hmbs	UTSW	9	44,248,657 (GRCm39)	missense	possibly damaging	0.71
R1953:Hmbs	UTSW	9	44,248,741 (GRCm39)	missense	probably damaging	1.00
R2127:Hmbs	UTSW	9	44,252,004 (GRCm39)	missense	probably benign	0.09
R4637:Hmbs	UTSW	9	44,250,834 (GRCm39)	missense	probably damaging	1.00
R5549:Hmbs	UTSW	9	44,250,774 (GRCm39)	critical splice donor site	probably null
R6611:Hmbs	UTSW	9	44,252,988 (GRCm39)	missense	probably damaging	0.98
R7509:Hmbs	UTSW	9	44,248,208 (GRCm39)	missense
R7702:Hmbs	UTSW	9	44,248,147 (GRCm39)	splice site	probably null
R8383:Hmbs	UTSW	9	44,249,240 (GRCm39)	missense	probably damaging	1.00
R8506:Hmbs	UTSW	9	44,252,921 (GRCm39)	critical splice donor site	probably null
R9069:Hmbs	UTSW	9	44,248,102 (GRCm39)	missense	possibly damaging	0.79
R9149:Hmbs	UTSW	9	44,252,983 (GRCm39)	nonsense	probably null
R9780:Hmbs	UTSW	9	44,247,985 (GRCm39)	missense	probably damaging	1.00
X0024:Hmbs	UTSW	9	44,249,265 (GRCm39)	missense	possibly damaging	0.89

Posted On

2013-12-03