Mutagenetix > Incidental Mutation

Incidental Mutation 'R1820:Aldh5a1'

204805

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

039848-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R1820 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25091562-25121644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25111555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 124 (D124G)

Ref Sequence

ENSEMBL: ENSMUSP00000040591 (fasta)

Gene Model

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

AlphaFold

Q8BWF0

Predicted Effect

probably benign
Transcript: ENSMUST00000037615
AA Change: D124G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: D124G

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.5%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,197,018 (GRCm39)	V197A	possibly damaging	Het
9230109A22Rik	T	C	15: 25,139,176 (GRCm39)		noncoding transcript	Het
Acbd3	A	G	1: 180,572,703 (GRCm39)	N321S	probably benign	Het
Actr3b	T	C	5: 26,054,156 (GRCm39)		probably null	Het
Arhgap35	G	A	7: 16,295,874 (GRCm39)	R1064W	possibly damaging	Het
Arhgef9	T	A	X: 94,125,142 (GRCm39)	I225F	probably damaging	Het
Arl16	T	C	11: 120,357,587 (GRCm39)	T43A	probably damaging	Het
Camsap3	T	C	8: 3,653,485 (GRCm39)	W409R	probably damaging	Het
Cfap43	T	A	19: 47,885,655 (GRCm39)	H320L	probably damaging	Het
Chac2	T	A	11: 30,927,496 (GRCm39)	N141I	probably damaging	Het
Chtf18	C	A	17: 25,944,913 (GRCm39)	G211C	probably damaging	Het
Cplane1	A	G	15: 8,299,129 (GRCm39)	K3106E	unknown	Het
Cwf19l1	T	A	19: 44,115,826 (GRCm39)	Y201F	probably benign	Het
Dcun1d1	A	T	3: 35,973,153 (GRCm39)	L114*	probably null	Het
Fdps	A	T	3: 89,002,350 (GRCm39)	H249Q	probably benign	Het
Fhip1a	T	A	3: 85,573,136 (GRCm39)	T938S	probably damaging	Het
Gabrg1	T	A	5: 70,931,756 (GRCm39)	Y329F	probably damaging	Het
Kctd8	T	A	5: 69,497,684 (GRCm39)	I321F	probably damaging	Het
Kdm5b	G	T	1: 134,525,408 (GRCm39)	R299L	possibly damaging	Het
Kif23	T	C	9: 61,833,720 (GRCm39)	T494A	possibly damaging	Het
Kmt2e	A	G	5: 23,678,545 (GRCm39)	H208R	probably damaging	Het
Lipo5	A	T	19: 33,441,995 (GRCm39)		probably null	Het
Lrrc28	G	T	7: 67,290,859 (GRCm39)	T54K	probably damaging	Het
Luc7l2	G	A	6: 38,575,754 (GRCm39)		probably null	Het
Man2a2	A	G	7: 80,008,681 (GRCm39)	F899L	probably benign	Het
Myo9b	T	C	8: 71,786,002 (GRCm39)	I633T	probably damaging	Het
Nynrin	A	T	14: 56,107,835 (GRCm39)	I981F	possibly damaging	Het
Or5an1c	A	T	19: 12,218,612 (GRCm39)	S138T	probably damaging	Het
Or8g28	A	G	9: 39,169,695 (GRCm39)	I91T	possibly damaging	Het
Pank1	A	G	19: 34,855,084 (GRCm39)		probably null	Het
Phc2	C	T	4: 128,637,336 (GRCm39)	A47V	probably damaging	Het
Plekhs1	A	G	19: 56,466,954 (GRCm39)	R262G	possibly damaging	Het
Pnp2	C	A	14: 51,201,914 (GRCm39)	P300Q	possibly damaging	Het
Polq	T	A	16: 36,849,780 (GRCm39)	S345T	possibly damaging	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Psmd5	T	C	2: 34,760,758 (GRCm39)		probably null	Het
Rfx6	T	G	10: 51,599,221 (GRCm39)		probably null	Het
Rhbdd2	G	A	5: 135,664,903 (GRCm39)	C78Y	probably damaging	Het
Rnf157	G	T	11: 116,245,477 (GRCm39)	P313T	probably damaging	Het
Ryr2	A	G	13: 11,602,202 (GRCm39)	L4560P	probably damaging	Het
Scai	A	T	2: 38,996,990 (GRCm39)	M268K	possibly damaging	Het
Scd3	A	T	19: 44,230,245 (GRCm39)	T343S	probably benign	Het
Scimp	A	T	11: 70,682,423 (GRCm39)	S98T	probably benign	Het
Sfrp2	A	G	3: 83,680,461 (GRCm39)	N207S	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Sp1	T	A	15: 102,317,511 (GRCm39)	S343R	possibly damaging	Het
Spata31d1a	A	T	13: 59,849,069 (GRCm39)	C1020S	possibly damaging	Het
Spink5	A	G	18: 44,122,486 (GRCm39)	N317S	possibly damaging	Het
Sptbn2	A	G	19: 4,776,624 (GRCm39)	D224G	probably damaging	Het
St8sia3	T	C	18: 64,402,703 (GRCm39)	I114T	probably damaging	Het
Zscan5b	C	A	7: 6,242,162 (GRCm39)	H460Q	probably damaging	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
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
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'- ACCATAATGACTTAGTCCCTCATC -3'
(R):5'- GTGGTGGCTTCTTCATACATATATG -3'

Sequencing Primer
(F):5'- TGACTTAGTCCCTCATCAAAGG -3'
(R):5'- CCAAAACGTTTACTAGCTACTGGGG -3'

Posted On

2014-06-23