Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01538:Aldh5a1'

90037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh5a1

Ensembl Gene

ENSMUSG00000035936

Gene Name

aldhehyde dehydrogenase family 5, subfamily A1

Synonyms

6330403E24Rik, SSADH, D630032B01Rik, OTTMUSG00000000613

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

25091562-25121644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25102495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 323 (N323D)

Ref Sequence

ENSEMBL: ENSMUSP00000040591 (fasta)

Gene Model

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

AlphaFold

Q8BWF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037615
AA Change: N323D

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: N323D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151220

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,708,032 (GRCm39)		noncoding transcript	Het
Abca3	G	T	17: 24,595,447 (GRCm39)	C328F	possibly damaging	Het
Atp5f1c	T	C	2: 10,073,477 (GRCm39)	Y32C	probably damaging	Het
Capn3	T	G	2: 120,332,667 (GRCm39)		probably null	Het
Ccdc113	C	A	8: 96,277,866 (GRCm39)	D275E	probably benign	Het
Ccdc40	T	A	11: 119,133,545 (GRCm39)	F562I	possibly damaging	Het
Ccn6	A	G	10: 39,034,306 (GRCm39)	Y99H	probably damaging	Het
Cd96	T	C	16: 45,929,490 (GRCm39)	T152A	possibly damaging	Het
Cdh20	T	A	1: 109,988,870 (GRCm39)	D257E	probably damaging	Het
Cilp2	T	C	8: 70,333,854 (GRCm39)	D1048G	probably benign	Het
Clrn2	T	G	5: 45,617,408 (GRCm39)	L93R	probably damaging	Het
Crat	C	A	2: 30,299,978 (GRCm39)	G134V	probably damaging	Het
Dis3	A	T	14: 99,335,181 (GRCm39)	N140K	probably benign	Het
Dmxl2	T	A	9: 54,352,660 (GRCm39)		probably benign	Het
Dus1l	T	A	11: 120,683,905 (GRCm39)	Q181L	probably damaging	Het
Ece1	A	G	4: 137,675,855 (GRCm39)	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,047 (GRCm39)	H90L	probably damaging	Het
Gpr152	T	A	19: 4,192,951 (GRCm39)	V164E	probably damaging	Het
Grik3	A	C	4: 125,587,829 (GRCm39)	I650L	possibly damaging	Het
Gvin3	T	C	7: 106,201,744 (GRCm39)	D500G	probably damaging	Het
Gzmm	A	T	10: 79,530,896 (GRCm39)	T233S	probably benign	Het
H2-Q4	T	A	17: 35,602,288 (GRCm39)	V341D	probably benign	Het
Igsf21	A	G	4: 139,755,029 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,758,538 (GRCm39)		probably benign	Het
Kntc1	T	G	5: 123,919,721 (GRCm39)	V864G	probably damaging	Het
Lnx1	T	C	5: 74,780,816 (GRCm39)	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,824,059 (GRCm39)	K985N	probably benign	Het
Map4k1	C	A	7: 28,701,044 (GRCm39)	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,319 (GRCm39)		probably null	Het
Mettl16	T	A	11: 74,683,093 (GRCm39)	Y178*	probably null	Het
Mrpl11	T	A	19: 5,013,449 (GRCm39)		probably null	Het
Nup85	T	C	11: 115,460,540 (GRCm39)	S140P	possibly damaging	Het
Or14c44	T	C	7: 86,062,167 (GRCm39)	L199P	possibly damaging	Het
Or1j20	T	C	2: 36,760,532 (GRCm39)		probably benign	Het
Or4k51	T	A	2: 111,585,350 (GRCm39)	V252E	probably damaging	Het
Or5w16	T	C	2: 87,576,942 (GRCm39)	V134A	probably benign	Het
Pcdhb2	T	A	18: 37,428,375 (GRCm39)	L116*	probably null	Het
Pdcd7	C	A	9: 65,253,985 (GRCm39)	R188S	probably damaging	Het
Pdk2	T	C	11: 94,918,111 (GRCm39)	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,069,882 (GRCm39)	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,478,364 (GRCm39)	Y169N	probably damaging	Het
Prcp	A	C	7: 92,559,421 (GRCm39)	T162P	probably benign	Het
Prkd1	A	G	12: 50,388,925 (GRCm39)	S873P	probably benign	Het
Ptpn2	T	C	18: 67,814,623 (GRCm39)	T129A	probably benign	Het
Rtkn	G	A	6: 83,123,042 (GRCm39)	R68H	probably damaging	Het
Sall4	C	T	2: 168,597,776 (GRCm39)	D355N	probably damaging	Het
Scn7a	A	G	2: 66,534,196 (GRCm39)	V493A	probably benign	Het
Sema4b	G	A	7: 79,865,444 (GRCm39)	A140T	probably damaging	Het
Shisa6	C	A	11: 66,108,654 (GRCm39)	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,153,589 (GRCm39)	V197F	probably damaging	Het
Spata2	A	T	2: 167,326,071 (GRCm39)	D249E	probably damaging	Het
Stk36	T	A	1: 74,672,797 (GRCm39)	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,610,899 (GRCm39)	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,365,409 (GRCm39)	V185D	possibly damaging	Het
Tgm7	T	A	2: 120,937,396 (GRCm39)	Y76F	probably benign	Het
Tph1	T	C	7: 46,303,177 (GRCm39)	Y267C	probably damaging	Het
Trgv1	G	A	13: 19,520,740 (GRCm39)		probably benign	Het
Ube2d1	A	G	10: 71,091,656 (GRCm39)		probably benign	Het
Vmn2r12	C	A	5: 109,239,716 (GRCm39)	R282S	probably damaging	Het
Vps4a	A	G	8: 107,763,556 (GRCm39)	D72G	probably benign	Het
Wipf2	T	A	11: 98,781,629 (GRCm39)	V56D	possibly damaging	Het
Zfp750	C	A	11: 121,402,991 (GRCm39)	V586L	probably benign	Het
Zfp831	A	G	2: 174,486,399 (GRCm39)	E358G	possibly 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
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
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

Posted On

2013-12-03