Mutagenetix > Incidental Mutation

Incidental Mutation 'R9149:Hmbs'

694902

Institutional Source

Beutler Lab

Gene Symbol

Hmbs

Ensembl Gene

ENSMUSG00000032126

Gene Name

hydroxymethylbilane synthase

Synonyms

Uros1, Ups, porphobilinogen deaminase, PBGD

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44247645-44255525 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 44252983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 34 (Q34*)

Ref Sequence

ENSEMBL: ENSMUSP00000076575 (fasta)

Gene Model

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

AlphaFold

P22907

Predicted Effect

probably null
Transcript: ENSMUST00000077353
AA Change: Q34*

SMART Domains

Protein: ENSMUSP00000076575
Gene: ENSMUSG00000032126
AA Change: Q34*

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

probably null
Transcript: ENSMUST00000097558
AA Change: Q17*

SMART Domains

Protein: ENSMUSP00000095166
Gene: ENSMUSG00000032126
AA Change: Q17*

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

probably null
Transcript: ENSMUST00000215091
AA Change: Q17*

Predicted Effect

probably benign
Transcript: ENSMUST00000216658

Predicted Effect

probably benign
Transcript: ENSMUST00000216852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (90/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,396,304 (GRCm39)	S103N	probably benign	Het
Ace	A	G	11: 105,863,299 (GRCm39)	D358G	possibly damaging	Het
Acvr2b	A	T	9: 119,257,116 (GRCm39)	H115L	probably damaging	Het
Adam15	G	A	3: 89,254,742 (GRCm39)	T106I	possibly damaging	Het
Adamts16	A	G	13: 70,883,948 (GRCm39)	C1076R	probably damaging	Het
Adcy5	A	G	16: 35,092,481 (GRCm39)	Y614C	probably damaging	Het
Adhfe1	A	T	1: 9,627,276 (GRCm39)	H225L	probably benign	Het
Aff3	A	G	1: 38,220,397 (GRCm39)	I1171T	probably damaging	Het
Agps	T	A	2: 75,697,182 (GRCm39)	M334K	probably damaging	Het
Akr1e1	A	G	13: 4,652,678 (GRCm39)		probably null	Het
Als2cl	G	A	9: 110,718,191 (GRCm39)	V311M	probably benign	Het
Amdhd1	A	T	10: 93,375,813 (GRCm39)	L7H	probably damaging	Het
Apba1	A	T	19: 23,870,782 (GRCm39)	I205F	probably damaging	Het
Arhgap26	A	T	18: 39,244,917 (GRCm39)	E187D	possibly damaging	Het
Ash1l	A	T	3: 88,914,530 (GRCm39)	H1720L	probably benign	Het
Atp9a	T	C	2: 168,575,988 (GRCm39)		probably benign	Het
Bcl7c	G	A	7: 127,307,695 (GRCm39)	A2V	probably damaging	Het
Catsperg1	G	C	7: 28,909,912 (GRCm39)	P72R	probably benign	Het
Ccdc103	G	A	11: 102,774,922 (GRCm39)	G174R	probably benign	Het
Ccdc171	A	T	4: 83,612,512 (GRCm39)	K976M	probably damaging	Het
Ceacam1	T	C	7: 25,173,360 (GRCm39)	N276S	possibly damaging	Het
Cep152	T	C	2: 125,463,127 (GRCm39)	E18G	probably damaging	Het
Cep152	T	C	2: 125,461,803 (GRCm39)	N91S	probably damaging	Het
Cers3	T	C	7: 66,393,442 (GRCm39)	L17P	probably benign	Het
Cpsf3	A	G	12: 21,356,844 (GRCm39)	N489S	possibly damaging	Het
Cramp1	A	G	17: 25,187,920 (GRCm39)	S1225P	probably damaging	Het
Dck	G	A	5: 88,913,166 (GRCm39)	G18R	probably benign	Het
Dnah5	A	T	15: 28,387,914 (GRCm39)	E3124D	probably benign	Het
Dync2i2	T	A	2: 29,923,953 (GRCm39)	T191S	probably benign	Het
Eogt	T	G	6: 97,090,839 (GRCm39)	L433F	probably damaging	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fsip2	T	C	2: 82,812,374 (GRCm39)	Y2898H	possibly damaging	Het
Fzr1	T	C	10: 81,205,249 (GRCm39)	H249R	probably benign	Het
Gbp10	T	G	5: 105,366,861 (GRCm39)	Q457P	probably damaging	Het
Gin1	G	C	1: 97,710,819 (GRCm39)	L167F	probably damaging	Het
Gm14226	A	T	2: 154,866,843 (GRCm39)	I267F	probably damaging	Het
Gmnc	A	G	16: 26,781,642 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,576,402 (GRCm39)	I311F	probably damaging	Het
Heg1	A	G	16: 33,558,961 (GRCm39)	K1085E	probably benign	Het
Hyal6	T	A	6: 24,734,151 (GRCm39)	M28K	probably benign	Het
Ifi27l2a	T	C	12: 103,405,678 (GRCm39)	V141A	possibly damaging	Het
Ift122	T	A	6: 115,867,492 (GRCm39)	I414N	probably damaging	Het
Iglv2	A	T	16: 19,079,434 (GRCm39)	V23E	probably damaging	Het
Itgax	A	T	7: 127,730,641 (GRCm39)	I120L	probably benign	Het
Kifc3	A	G	8: 95,853,317 (GRCm39)	I13T	probably benign	Het
Lmod3	T	C	6: 97,224,625 (GRCm39)	N399D	probably damaging	Het
Macf1	A	T	4: 123,365,326 (GRCm39)	I3145K	probably benign	Het
Map2k5	A	C	9: 63,201,006 (GRCm39)	I209S	probably damaging	Het
Mbd5	A	G	2: 49,141,388 (GRCm39)	E117G	probably damaging	Het
Milr1	A	G	11: 106,652,105 (GRCm39)	H172R	probably benign	Het
Myod1	A	C	7: 46,026,593 (GRCm39)	D166A		Het
Neb	C	T	2: 52,100,878 (GRCm39)	V4647M	possibly damaging	Het
Nek1	A	T	8: 61,574,055 (GRCm39)	D1101V	probably damaging	Het
Nlrp2	A	T	7: 5,330,572 (GRCm39)	V608D	probably benign	Het
Noc3l	G	A	19: 38,800,835 (GRCm39)	Q216*	probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup160	T	A	2: 90,552,585 (GRCm39)		probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Oat	C	T	7: 132,166,006 (GRCm39)	S193N	probably benign	Het
Oma1	A	G	4: 103,182,214 (GRCm39)		probably null	Het
Or12e13	G	T	2: 87,663,523 (GRCm39)	G47*	probably null	Het
Or1e16	T	A	11: 73,286,853 (GRCm39)		probably benign	Het
Or1j15	T	G	2: 36,458,988 (GRCm39)	F126C	probably benign	Het
Or6c206	A	G	10: 129,097,184 (GRCm39)	Y118C	probably damaging	Het
Or6c216	A	G	10: 129,678,482 (GRCm39)	V143A	probably damaging	Het
Os9	A	G	10: 126,933,918 (GRCm39)	S500P	possibly damaging	Het
Osbpl11	A	T	16: 33,047,660 (GRCm39)	N541I		Het
Pcnx4	A	G	12: 72,613,671 (GRCm39)	I539V	probably benign	Het
Ppfia3	T	A	7: 44,999,717 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,722,098 (GRCm39)	K275E	probably benign	Het
Pten	A	G	19: 32,769,972 (GRCm39)	N63S	probably benign	Het
Rptor	A	G	11: 119,777,896 (GRCm39)	N1020S	probably benign	Het
Sall2	C	A	14: 52,550,673 (GRCm39)	D841Y	possibly damaging	Het
Sbno1	T	A	5: 124,519,762 (GRCm39)	H1172L	probably benign	Het
Scaf4	A	T	16: 90,027,054 (GRCm39)	L921Q	probably damaging	Het
Sec22c	C	A	9: 121,524,750 (GRCm39)	R11L	probably damaging	Het
Skint6	T	A	4: 113,034,173 (GRCm39)	D318V	probably damaging	Het
Slc22a28	T	C	19: 8,049,205 (GRCm39)	N348S	probably benign	Het
Slc44a2	G	T	9: 21,253,305 (GRCm39)	K77N	possibly damaging	Het
Smc1b	C	T	15: 84,950,431 (GRCm39)	V1198I	probably benign	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Stra8	T	C	6: 34,911,016 (GRCm39)	Y215H	probably damaging	Het
Sv2a	G	T	3: 96,097,010 (GRCm39)	R445L	probably benign	Het
Sycp1	A	C	3: 102,758,944 (GRCm39)	L771R	probably damaging	Het
Tchp	A	T	5: 114,859,184 (GRCm39)	R493*	probably null	Het
Ttc13	G	A	8: 125,410,039 (GRCm39)	A391V	probably benign	Het
Unc13b	C	T	4: 43,176,186 (GRCm39)	T2338I	unknown	Het
Wac	A	G	18: 7,921,592 (GRCm39)	D576G	probably damaging	Het
Xdh	T	C	17: 74,222,688 (GRCm39)	N559S	probably benign	Het
Zscan20	A	T	4: 128,481,914 (GRCm39)	S583T	probably benign	Het

Other mutations in Hmbs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01526:Hmbs	APN	9	44,250,845 (GRCm39)	missense	possibly damaging	0.91
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
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

Predicted Primers

PCR Primer
(F):5'- CAGAATAGTCTTACAAGGCAGGC -3'
(R):5'- ACCCAAAGGCTAGCATTGAG -3'

Sequencing Primer
(F):5'- TTACAAGGCAGGCTTTGACC -3'
(R):5'- AGAGTCGATTTCATGGGGTACAG -3'

Posted On

2022-01-20