Mutagenetix > Incidental Mutation

Incidental Mutation 'R8849:Aldh5a1'

674896

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

068672-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R8849 (G1)

Quality Score

150.008

Status

Validated

Chromosome

Chromosomal Location

25091562-25121644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25121464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 30 (T30S)

Ref Sequence

ENSEMBL: ENSMUSP00000040591 (fasta)

Gene Model

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

AlphaFold

Q8BWF0

Predicted Effect

probably benign
Transcript: ENSMUST00000037615
AA Change: T30S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: T30S

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (52/52)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	A	16: 14,439,376 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,669,324 (GRCm39)	T2411A	probably benign	Het
Alg1	G	A	16: 5,051,532 (GRCm39)	A7T	possibly damaging	Het
Ano10	T	A	9: 122,090,510 (GRCm39)	M268L	probably benign	Het
Avil	T	C	10: 126,844,661 (GRCm39)	V264A	possibly damaging	Het
Bicc1	T	A	10: 70,782,694 (GRCm39)	I558F	probably benign	Het
Bst1	A	T	5: 43,977,927 (GRCm39)	H92L	possibly damaging	Het
C1s2	T	C	6: 124,602,754 (GRCm39)	N486D	probably benign	Het
Carmil3	A	T	14: 55,734,627 (GRCm39)	H452L	probably benign	Het
Ccser1	T	A	6: 61,288,537 (GRCm39)	D233E	probably benign	Het
Ceacam18	G	T	7: 43,294,967 (GRCm39)	L342F	probably benign	Het
Cep95	T	A	11: 106,707,630 (GRCm39)	M691K		Het
Cfap221	G	A	1: 119,922,874 (GRCm39)	P23S	probably damaging	Het
Ciao2b	C	T	8: 105,367,599 (GRCm39)		probably null	Het
Col20a1	T	C	2: 180,640,432 (GRCm39)	Y572H	probably damaging	Het
Cr2	C	T	1: 194,839,547 (GRCm39)	V627M	probably damaging	Het
Cul2	T	A	18: 3,423,551 (GRCm39)	H320Q	probably benign	Het
Ddx5	A	T	11: 106,675,975 (GRCm39)	V266E	probably damaging	Het
Dgkd	T	C	1: 87,846,365 (GRCm39)	V336A	probably damaging	Het
Dnah6	T	C	6: 73,121,156 (GRCm39)		probably null	Het
Dnhd1	C	A	7: 105,370,723 (GRCm39)	Q4668K	probably benign	Het
Dock7	C	T	4: 98,904,986 (GRCm39)	E630K		Het
Dolk	T	C	2: 30,174,935 (GRCm39)	E370G	probably damaging	Het
Ercc6	T	A	14: 32,291,565 (GRCm39)	L1003Q	probably damaging	Het
Foxc1	T	C	13: 31,992,817 (GRCm39)	S543P	unknown	Het
Gbp2b	A	C	3: 142,313,913 (GRCm39)	M398L	probably benign	Het
Gigyf2	G	T	1: 87,361,592 (GRCm39)	R908L	unknown	Het
Gpr176	T	A	2: 118,110,095 (GRCm39)	E388V	probably damaging	Het
Gpx8	C	T	13: 113,179,704 (GRCm39)	G199E	probably benign	Het
Gtf2a1l	A	G	17: 89,001,566 (GRCm39)	T141A	possibly damaging	Het
Ifi208	G	A	1: 173,506,184 (GRCm39)		probably benign	Het
Itgad	T	A	7: 127,789,157 (GRCm39)		probably benign	Het
Kif20b	C	T	19: 34,915,716 (GRCm39)	Q498*	probably null	Het
Lmo7	T	C	14: 102,163,543 (GRCm39)	Y1463H	unknown	Het
Mms19	A	T	19: 41,952,767 (GRCm39)	L114Q	probably damaging	Het
Mogs	T	C	6: 83,094,986 (GRCm39)	V601A	possibly damaging	Het
Mybpc1	T	A	10: 88,407,447 (GRCm39)	M87L	probably benign	Het
Nhlrc2	T	C	19: 56,580,184 (GRCm39)	V439A	possibly damaging	Het
Npc1l1	T	A	11: 6,179,038 (GRCm39)	H124L	probably damaging	Het
Opn4	A	G	14: 34,318,986 (GRCm39)	W200R	probably damaging	Het
Or2b2b	T	C	13: 21,858,226 (GRCm39)	E296G	possibly damaging	Het
Pax2	T	C	19: 44,749,111 (GRCm39)		probably benign	Het
Phf20	G	T	2: 156,118,440 (GRCm39)	Q381H	probably damaging	Het
Pramel25	A	G	4: 143,521,596 (GRCm39)	N404S	probably damaging	Het
Pramel32	T	A	4: 88,546,014 (GRCm39)	T443S	probably benign	Het
Pramel34	A	T	5: 93,784,197 (GRCm39)	H422Q	probably benign	Het
Rb1	C	T	14: 73,434,709 (GRCm39)	R903Q	probably damaging	Het
Scamp4	T	A	10: 80,445,266 (GRCm39)	V37E	probably damaging	Het
Sema3e	T	C	5: 14,302,673 (GRCm39)	W733R	probably damaging	Het
Sertm1	A	G	3: 54,806,749 (GRCm39)	V92A	possibly damaging	Het
Slc4a5	T	C	6: 83,250,180 (GRCm39)	F638L	probably damaging	Het
Tprn	T	C	2: 25,159,171 (GRCm39)	S703P	probably damaging	Het
Tulp4	T	A	17: 6,272,656 (GRCm39)	M570K	probably benign	Het
Zfp433	T	C	10: 81,556,875 (GRCm39)	I459T	probably benign	Het
Zfp697	A	G	3: 98,334,943 (GRCm39)	E236G	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
R8712:Aldh5a1	UTSW	13	25,102,524 (GRCm39)	missense	probably damaging	1.00
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'- TGTTGAAGGCATCGTAGGCG -3'
(R):5'- ACACAGTTCAAGCTCTGTCTCC -3'

Sequencing Primer
(F):5'- TCGTACACCGGGAAGGTGG -3'
(R):5'- TCTCAACAGCTCAGAGAGAGG -3'

Posted On

2021-07-15