Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Aldh5a1'

320870

Institutional Source

Beutler Lab

Gene Symbol

Aldh5a1

Ensembl Gene

ENSMUSG00000035936

Gene Name

aldhehyde dehydrogenase family 5, subfamily A1

Synonyms

D630032B01Rik, SSADH, 6330403E24Rik, OTTMUSG00000000613

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24907579-24937661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24911653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 494 (G494R)

Ref Sequence

ENSEMBL: ENSMUSP00000040591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037615]

AlphaFold

Q8BWF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037615
AA Change: G494R

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

SMART Domains

Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: G494R

Domain	Start	End	E-Value	Type
Pfam:Aldedh	57	518	7.7e-169	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225028

Meta Mutation Damage Score

0.9748

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced body weight, ataxia, seizures, gliosis of the hippocampus, and early death. [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
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	Het

Other mutations in Aldh5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Aldh5a1	APN	13	24926158	splice site	probably benign
IGL01468:Aldh5a1	APN	13	24911553	utr 3 prime	probably benign
IGL01538:Aldh5a1	APN	13	24918512	missense	possibly damaging	0.90
IGL02839:Aldh5a1	APN	13	24911620	missense	probably damaging	1.00
R0529:Aldh5a1	UTSW	13	24913873	missense	probably benign	0.00
R1820:Aldh5a1	UTSW	13	24927572	missense	probably benign	0.01
R2295:Aldh5a1	UTSW	13	24926099	missense	probably damaging	1.00
R4591:Aldh5a1	UTSW	13	24924008	missense	probably damaging	1.00
R4865:Aldh5a1	UTSW	13	24911584	missense	probably damaging	1.00
R5159:Aldh5a1	UTSW	13	24913793	missense	possibly damaging	0.72
R5563:Aldh5a1	UTSW	13	24918626	missense	possibly damaging	0.95
R6146:Aldh5a1	UTSW	13	24919678	critical splice donor site	probably null
R6362:Aldh5a1	UTSW	13	24918550	missense	probably benign	0.24
R6531:Aldh5a1	UTSW	13	24918564	missense	probably benign	0.11
R6705:Aldh5a1	UTSW	13	24912270	missense	probably damaging	1.00
R7151:Aldh5a1	UTSW	13	24937399	nonsense	probably null
R7155:Aldh5a1	UTSW	13	24911589	missense	possibly damaging	0.74
R7698:Aldh5a1	UTSW	13	24911748	missense	probably damaging	0.99
R8027:Aldh5a1	UTSW	13	24926110	nonsense	probably null
R8712:Aldh5a1	UTSW	13	24918541	missense	probably damaging	1.00
R8849:Aldh5a1	UTSW	13	24937481	missense	probably benign
R8910:Aldh5a1	UTSW	13	24918616	missense	probably damaging	1.00
Z1177:Aldh5a1	UTSW	13	24911638	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTACATCTAAGAAATGAGGCCTGG -3'
(R):5'- GCGTGTGACTTTCAGGAGAATTC -3'

Sequencing Primer
(F):5'- GGCCTGGCTGGATTTTTAAAAATTC -3'
(R):5'- GGAGAATTCCTCAAACCGTCTG -3'

Posted On

2015-06-12