Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Aldh5a1'

669670

Institutional Source

Beutler Lab

Gene Symbol

Aldh5a1

Ensembl Gene

ENSMUSG00000035936

Gene Name

aldhehyde dehydrogenase family 5, subfamily A1

Synonyms

6330403E24Rik, SSADH, D630032B01Rik, OTTMUSG00000000613

MMRRC Submission

068566-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R8712 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25091562-25121644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25102524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 313 (V313A)

Ref Sequence

ENSEMBL: ENSMUSP00000040591 (fasta)

Gene Model

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

AlphaFold

Q8BWF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037615
AA Change: V313A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: V313A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	T	16: 85,594,896 (GRCm39)	N617K	probably benign	Het
Adnp2	A	T	18: 80,174,185 (GRCm39)	C75S	probably damaging	Het
Agmo	T	C	12: 37,407,673 (GRCm39)	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,749,872 (GRCm39)	Y122C		Het
Ahnak2	T	C	12: 112,750,709 (GRCm39)	E71G		Het
Ankib1	C	A	5: 3,822,643 (GRCm39)	C21F	probably benign	Het
Aqr	A	G	2: 113,949,358 (GRCm39)	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,103,547 (GRCm39)	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,365,923 (GRCm39)	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,125,859 (GRCm39)	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,772,510 (GRCm39)	I113V	probably benign	Het
Catsper3	T	C	13: 55,953,657 (GRCm39)	M269T	probably benign	Het
Ccdc142	A	C	6: 83,079,233 (GRCm39)	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,845,051 (GRCm39)	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842 (GRCm39)		probably null	Het
Cebpz	A	G	17: 79,229,081 (GRCm39)	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,696 (GRCm39)	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133 (GRCm39)	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,310,138 (GRCm39)		probably benign	Het
Ddx1	A	G	12: 13,293,859 (GRCm39)		probably benign	Het
Duox2	A	C	2: 122,119,826 (GRCm39)	Y867*	probably null	Het
Ereg	T	C	5: 91,237,013 (GRCm39)	Y111H	possibly damaging	Het
Esrrb	T	A	12: 86,565,724 (GRCm39)	L417Q	probably damaging	Het
Fbxw7	G	A	3: 84,859,684 (GRCm39)	R2H	unknown	Het
Galnt6	C	T	15: 100,592,501 (GRCm39)	V569I	probably benign	Het
Gm14226	G	A	2: 154,866,094 (GRCm39)	C17Y	unknown	Het
Gpr150	T	G	13: 76,204,642 (GRCm39)	D101A	probably damaging	Het
Grm1	A	T	10: 10,565,296 (GRCm39)	L1004Q	probably benign	Het
Gtf2a1l	T	A	17: 89,022,351 (GRCm39)	D447E	probably damaging	Het
Gtf2ird1	C	T	5: 134,444,064 (GRCm39)	V64M	probably damaging	Het
Ifi206	A	T	1: 173,308,074 (GRCm39)	W641R		Het
Ifi214	T	A	1: 173,355,486 (GRCm39)	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,675,599 (GRCm39)	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,271,025 (GRCm39)	S636T	probably benign	Het
Klhl25	C	T	7: 75,515,420 (GRCm39)	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,853,124 (GRCm39)	E835G	probably benign	Het
Marchf1	A	G	8: 66,921,000 (GRCm39)	K226E	probably damaging	Het
Mcpt1	T	C	14: 56,256,170 (GRCm39)		probably benign	Het
Myrf	C	A	19: 10,192,434 (GRCm39)	R639L	probably benign	Het
Naip5	T	C	13: 100,359,604 (GRCm39)	H544R	possibly damaging	Het
Nccrp1	T	C	7: 28,245,769 (GRCm39)	I132V	probably benign	Het
Nprl3	C	T	11: 32,187,334 (GRCm39)	V333I	possibly damaging	Het
Or13a25	C	T	7: 140,248,052 (GRCm39)	S277L	possibly damaging	Het
Or14n1-ps1	T	C	7: 86,092,923 (GRCm39)	S245P	probably damaging	Het
Or2o1	T	C	11: 49,051,297 (GRCm39)	M152T	probably benign	Het
Or2y1	T	A	11: 49,385,671 (GRCm39)	S104T	probably benign	Het
Or4b1d	A	T	2: 89,969,114 (GRCm39)	I123N	probably damaging	Het
Or4f62	A	T	2: 111,986,934 (GRCm39)	I213F	probably damaging	Het
Or52h1	T	C	7: 103,829,025 (GRCm39)	N197D	probably damaging	Het
Or56a41	C	A	7: 104,741,808 (GRCm39)	V73F	possibly damaging	Het
Or8c15	T	C	9: 38,121,099 (GRCm39)	V248A	probably benign	Het
Or8d6	T	C	9: 39,853,891 (GRCm39)	S112P	probably damaging	Het
Otx2	A	G	14: 48,896,521 (GRCm39)	M179T	probably damaging	Het
Pmfbp1	A	G	8: 110,265,309 (GRCm39)		probably benign	Het
Ppfia3	T	A	7: 45,011,129 (GRCm39)	T34S	probably benign	Het
Prkcsh	T	C	9: 21,924,375 (GRCm39)	Y502H	probably damaging	Het
Psd	T	C	19: 46,301,775 (GRCm39)	E937G	probably damaging	Het
Rbbp6	T	A	7: 122,600,976 (GRCm39)	I1661N	unknown	Het
Rhobtb1	T	A	10: 69,106,587 (GRCm39)	M446K	probably damaging	Het
Sall3	T	C	18: 81,017,236 (GRCm39)	I231V	probably benign	Het
Slc12a9	C	T	5: 137,325,916 (GRCm39)	V270I	probably damaging	Het
Slc6a15	A	G	10: 103,225,112 (GRCm39)	K67E	probably damaging	Het
Slc9c1	A	G	16: 45,380,646 (GRCm39)	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,687,526 (GRCm39)	D418G	probably benign	Het
Sox6	T	C	7: 115,196,743 (GRCm39)	T296A	probably benign	Het
Ssu2	T	C	6: 112,361,399 (GRCm39)	E19G	probably damaging	Het
Tctn3	T	C	19: 40,600,170 (GRCm39)	N90S	probably damaging	Het
Tex24	A	G	8: 27,834,652 (GRCm39)	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,070,470 (GRCm39)	*128R	probably null	Het
Tti1	A	C	2: 157,834,930 (GRCm39)	L1010R	probably damaging	Het
Ttn	A	G	2: 76,567,682 (GRCm39)	L27737P	probably damaging	Het
Ubqln5	T	A	7: 103,778,322 (GRCm39)	K167N	probably benign	Het
Unkl	A	G	17: 25,450,689 (GRCm39)	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,013,665 (GRCm39)	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,811,397 (GRCm39)	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,369,877 (GRCm39)	T62K	probably benign	Het

Other mutations in Aldh5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Aldh5a1	APN	13	25,110,141 (GRCm39)	splice site	probably benign
IGL01468:Aldh5a1	APN	13	25,095,536 (GRCm39)	utr 3 prime	probably benign
IGL01538:Aldh5a1	APN	13	25,102,495 (GRCm39)	missense	possibly damaging	0.90
IGL02839:Aldh5a1	APN	13	25,095,603 (GRCm39)	missense	probably damaging	1.00
R0529:Aldh5a1	UTSW	13	25,097,856 (GRCm39)	missense	probably benign	0.00
R1820:Aldh5a1	UTSW	13	25,111,555 (GRCm39)	missense	probably benign	0.01
R2295:Aldh5a1	UTSW	13	25,110,082 (GRCm39)	missense	probably damaging	1.00
R4231:Aldh5a1	UTSW	13	25,095,636 (GRCm39)	missense	probably damaging	1.00
R4591:Aldh5a1	UTSW	13	25,107,991 (GRCm39)	missense	probably damaging	1.00
R4865:Aldh5a1	UTSW	13	25,095,567 (GRCm39)	missense	probably damaging	1.00
R5159:Aldh5a1	UTSW	13	25,097,776 (GRCm39)	missense	possibly damaging	0.72
R5563:Aldh5a1	UTSW	13	25,102,609 (GRCm39)	missense	possibly damaging	0.95
R6146:Aldh5a1	UTSW	13	25,103,661 (GRCm39)	critical splice donor site	probably null
R6362:Aldh5a1	UTSW	13	25,102,533 (GRCm39)	missense	probably benign	0.24
R6531:Aldh5a1	UTSW	13	25,102,547 (GRCm39)	missense	probably benign	0.11
R6705:Aldh5a1	UTSW	13	25,096,253 (GRCm39)	missense	probably damaging	1.00
R7151:Aldh5a1	UTSW	13	25,121,382 (GRCm39)	nonsense	probably null
R7155:Aldh5a1	UTSW	13	25,095,572 (GRCm39)	missense	possibly damaging	0.74
R7698:Aldh5a1	UTSW	13	25,095,731 (GRCm39)	missense	probably damaging	0.99
R8027:Aldh5a1	UTSW	13	25,110,093 (GRCm39)	nonsense	probably null
R8849:Aldh5a1	UTSW	13	25,121,464 (GRCm39)	missense	probably benign
R8910:Aldh5a1	UTSW	13	25,102,599 (GRCm39)	missense	probably damaging	1.00
R9417:Aldh5a1	UTSW	13	25,095,673 (GRCm39)	missense	probably damaging	1.00
R9435:Aldh5a1	UTSW	13	25,121,293 (GRCm39)	missense	probably damaging	1.00
R9674:Aldh5a1	UTSW	13	25,110,038 (GRCm39)	missense	probably benign
Z1177:Aldh5a1	UTSW	13	25,095,621 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCTCATGCCTGACAGAAAG -3'
(R):5'- GGACATTTGGGCCATCAGAG -3'

Sequencing Primer
(F):5'- CTCATGCCTGACAGAAAGTACTAGG -3'
(R):5'- TTTGGGCCATCAGAGGAAGGTAC -3'

Posted On

2021-04-30