Mutagenetix > Incidental Mutation

Incidental Mutation 'R4865:Aldh5a1'

374856

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

042475-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.703) question?

Stock #

R4865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25091562-25121644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25095567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 517 (Y517H)

Ref Sequence

ENSEMBL: ENSMUSP00000040591 (fasta)

Gene Model

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

AlphaFold

Q8BWF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037615
AA Change: Y517H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: Y517H

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

0.6883

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

98% (86/88)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,938,157 (GRCm39)	V639M	probably damaging	Het
Adgrf4	A	G	17: 42,978,156 (GRCm39)	S396P	probably damaging	Het
Aldh3b2	T	A	19: 4,028,469 (GRCm39)	I123N	probably damaging	Het
Aph1c	A	C	9: 66,735,120 (GRCm39)	I77S	probably damaging	Het
Armc8	A	G	9: 99,408,942 (GRCm39)		probably null	Het
Atp13a5	G	A	16: 29,066,912 (GRCm39)	P1020L	probably damaging	Het
BC024139	A	T	15: 76,010,266 (GRCm39)	M80K	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cenpn	A	G	8: 117,661,512 (GRCm39)	I204V	probably damaging	Het
Ces4a	A	T	8: 105,873,790 (GRCm39)	M420L	probably benign	Het
Chdh	T	A	14: 29,755,681 (GRCm39)	D322E	probably benign	Het
Clcn6	A	T	4: 148,104,223 (GRCm39)	I223N	probably damaging	Het
Clec4b1	A	G	6: 123,045,428 (GRCm39)	K50E	possibly damaging	Het
Creg1	T	A	1: 165,597,432 (GRCm39)	C135*	probably null	Het
Cyp4f13	C	T	17: 33,144,678 (GRCm39)	R411Q	probably damaging	Het
Dnah7b	T	C	1: 46,234,234 (GRCm39)	F1426L	probably damaging	Het
Dock9	A	T	14: 121,780,917 (GRCm39)	*1917R	probably null	Het
Dync1h1	T	G	12: 110,606,235 (GRCm39)	L2435R	possibly damaging	Het
Eif3l	C	A	15: 78,965,849 (GRCm39)	Y166*	probably null	Het
Emilin1	T	A	5: 31,075,128 (GRCm39)	N456K	possibly damaging	Het
Fam83f	C	T	15: 80,576,650 (GRCm39)	R434C	probably damaging	Het
Fbxw9	A	G	8: 85,786,785 (GRCm39)	D10G	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fsip2	T	G	2: 82,821,295 (GRCm39)	V5676G	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm11596	A	G	11: 99,684,064 (GRCm39)		probably benign	Het
Gm6522	T	C	3: 106,183,286 (GRCm39)		noncoding transcript	Het
Gm6728	A	G	6: 136,464,072 (GRCm39)		noncoding transcript	Het
Gria4	T	A	9: 4,464,295 (GRCm39)	I556F	possibly damaging	Het
Grp	A	T	18: 66,013,041 (GRCm39)	D69V	probably damaging	Het
Gucy1a1	G	T	3: 82,026,469 (GRCm39)		probably benign	Het
Haus5	A	T	7: 30,357,980 (GRCm39)	L376Q	probably damaging	Het
Ifne	A	T	4: 88,797,942 (GRCm39)	Y159N	probably damaging	Het
Ift80	A	G	3: 68,898,092 (GRCm39)	V81A	probably benign	Het
Inpp5b	T	C	4: 124,645,288 (GRCm39)	V192A	probably benign	Het
Kcnh4	A	G	11: 100,640,569 (GRCm39)	S486P	probably damaging	Het
Kif5b	A	G	18: 6,222,912 (GRCm39)		probably benign	Het
Macf1	T	A	4: 123,327,096 (GRCm39)	E4800D	probably damaging	Het
Mblac2	C	T	13: 81,860,095 (GRCm39)	Q150*	probably null	Het
Mc1r	A	T	8: 124,134,255 (GRCm39)	T3S	probably benign	Het
Med17	G	A	9: 15,176,668 (GRCm39)	Q70*	probably null	Het
Myocd	A	T	11: 65,069,856 (GRCm39)		probably null	Het
Nphp3	T	C	9: 103,909,169 (GRCm39)	L793P	probably benign	Het
Or1ad1	A	G	11: 50,876,370 (GRCm39)	T281A	probably damaging	Het
Or2m13	A	T	16: 19,226,051 (GRCm39)	F238L	probably damaging	Het
Or4a68	T	G	2: 89,270,003 (GRCm39)	T207P	possibly damaging	Het
Or5an10	T	C	19: 12,275,944 (GRCm39)	D184G	probably damaging	Het
Or5ap2	T	A	2: 85,680,060 (GRCm39)	M88K	probably damaging	Het
Or8c13	T	A	9: 38,091,196 (GRCm39)	T308S	possibly damaging	Het
Piezo1	A	T	8: 123,213,660 (GRCm39)	L1745Q	probably damaging	Het
Prdm10	T	A	9: 31,258,376 (GRCm39)	H600Q	probably damaging	Het
Psapl1	C	A	5: 36,362,211 (GRCm39)	L268M	probably damaging	Het
Psg23	T	C	7: 18,346,039 (GRCm39)	I219V	probably benign	Het
Rexo5	A	T	7: 119,400,553 (GRCm39)	R113*	probably null	Het
Rgs22	A	T	15: 36,100,358 (GRCm39)	I243N	probably damaging	Het
Rhbdf1	G	A	11: 32,164,517 (GRCm39)	T183I	probably damaging	Het
Rhobtb1	T	C	10: 69,106,554 (GRCm39)	M373T	probably benign	Het
Ros1	G	T	10: 52,048,966 (GRCm39)	A88E	probably damaging	Het
Sdr16c6	A	G	4: 4,058,834 (GRCm39)	F251L	probably benign	Het
Skil	A	G	3: 31,167,562 (GRCm39)	Y398C	probably damaging	Het
Slc22a3	A	T	17: 12,683,419 (GRCm39)	M148K	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Sntn	A	T	14: 13,679,103 (GRCm38)	K92N	probably benign	Het
Spry4	A	T	18: 38,722,876 (GRCm39)	S296T	probably benign	Het
St8sia1	A	G	6: 142,774,796 (GRCm39)	F261S	probably damaging	Het
Stab2	C	T	10: 86,679,364 (GRCm39)		probably null	Het
Stk24	A	T	14: 121,530,866 (GRCm39)	C363*	probably null	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tmem67	T	C	4: 12,070,262 (GRCm39)	N387S	probably benign	Het
Treml1	A	T	17: 48,673,885 (GRCm39)	I304L	probably benign	Het
Trim13	A	G	14: 61,842,966 (GRCm39)	I328V	probably benign	Het
Upk2	A	G	9: 44,365,382 (GRCm39)	V62A	probably damaging	Het
Urb2	A	T	8: 124,756,374 (GRCm39)	K694*	probably null	Het
Vmn2r17	C	A	5: 109,574,985 (GRCm39)	N97K	probably damaging	Het
Vmn2r57	A	T	7: 41,049,892 (GRCm39)	V619D	probably damaging	Het
Vmn2r92	G	A	17: 18,387,634 (GRCm39)	R213Q	probably benign	Het
Wnt6	G	A	1: 74,821,788 (GRCm39)	C123Y	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	probably damaging	Het
Zfp52	C	T	17: 21,781,505 (GRCm39)	S451L	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
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
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'- ACCCACAGCCACAGGTATATGG -3'
(R):5'- ACTTTTACTCTCAAGACCCGG -3'

Sequencing Primer
(F):5'- CACAGGTATATGGCATCTATTGGTCC -3'
(R):5'- AAGACCCGGCCCAGATCTG -3'

Posted On

2016-03-17