Mutagenetix > Incidental Mutation

Incidental Mutation 'R9451:Aldh8a1'

714266

Institutional Source

Beutler Lab

Gene Symbol

Aldh8a1

Ensembl Gene

ENSMUSG00000037542

Gene Name

aldehyde dehydrogenase 8 family, member A1

Synonyms

RALDH4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21377291-21396585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21389133 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 220 (S220T)

Ref Sequence

ENSEMBL: ENSMUSP00000038878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042699]

AlphaFold

Q8BH00

Predicted Effect

probably benign
Transcript: ENSMUST00000042699
AA Change: S220T

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

SMART Domains

Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: S220T

Domain	Start	End	E-Value	Type
Pfam:Aldedh	19	483	8.6e-170	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified for this gene. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	G	17: 23,717,213	Y19H	unknown	Het
Ankrd66	A	G	17: 43,534,920	V192A	probably benign	Het
Atp1a2	A	G	1: 172,275,927	Y1009H	probably benign	Het
BC005561	C	A	5: 104,520,778	S1055R	probably benign	Het
Bptf	A	C	11: 107,044,585	M142R	probably damaging	Het
Brwd1	C	T	16: 96,044,503	R740Q	probably damaging	Het
C3	A	G	17: 57,224,169	M339T	probably benign	Het
Catsperg1	A	G	7: 29,198,347		probably null	Het
Cep295nl	T	A	11: 118,333,620	K133*	probably null	Het
Copg2	A	T	6: 30,816,851		probably benign	Het
Coro7	A	T	16: 4,670,538	D89E	probably damaging	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Ddx54	G	T	5: 120,627,144	R826L	probably damaging	Het
Dlg4	G	T	11: 70,031,239	K162N	probably damaging	Het
Dna2	T	A	10: 62,954,293	L185H	probably benign	Het
Dock9	C	T	14: 121,550,189		probably benign	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Etl4	A	G	2: 20,809,115	I1322V	probably benign	Het
Exd1	T	C	2: 119,524,583	K284E	possibly damaging	Het
Flnc	A	G	6: 29,445,463	T786A	probably damaging	Het
Gm21671	T	A	5: 25,951,571	K137*	probably null	Het
Gm29106	A	C	1: 118,199,914	E445D	possibly damaging	Het
Gm5592	T	C	7: 41,286,452	L126P	probably damaging	Het
Gtf3c2	T	G	5: 31,168,429	T389P	probably damaging	Het
Hhipl1	C	A	12: 108,327,841	R669S	probably benign	Het
Hivep1	A	G	13: 42,183,776	T2444A	probably benign	Het
Hspg2	A	G	4: 137,511,069	E289G	probably damaging	Het
Htatip2	C	A	7: 49,759,239	T9K	unknown	Het
Ifngr1	T	C	10: 19,607,293	V265A	possibly damaging	Het
Ift140	A	G	17: 25,033,951	N359D	probably benign	Het
Mat1a	A	G	14: 41,114,846	R178G	probably damaging	Het
Mknk2	C	T	10: 80,669,662	R154H	probably benign	Het
Myh14	C	T	7: 44,624,319		probably null	Het
Myof	A	G	19: 37,977,648		probably null	Het
Nfe2l1	G	T	11: 96,827,627	D27E	probably damaging	Het
Olfr1234	A	T	2: 89,362,899	C177S	probably damaging	Het
Olfr1301	T	C	2: 111,754,873	V208A	probably benign	Het
Olfr1378	A	G	11: 50,969,123	Y35C		Het
Olfr284	A	G	15: 98,340,263	V242A	possibly damaging	Het
Olfr485	A	G	7: 108,159,261	V204A	probably benign	Het
Plec	C	A	15: 76,183,787	Q1139H	unknown	Het
Plxna2	T	A	1: 194,644,384	S209T	probably benign	Het
Plxnd1	T	C	6: 115,963,316	E1369G	possibly damaging	Het
Psd3	T	C	8: 67,910,835	I3V	unknown	Het
Pwp1	T	A	10: 85,878,564	F195L	probably damaging	Het
Rab3ip	C	T	10: 116,939,449	M1I	probably null	Het
Rad54l2	T	C	9: 106,708,289	K759R	probably benign	Het
Rims2	G	T	15: 39,437,328	V344L	probably damaging	Het
Robo1	G	A	16: 73,006,830	R1088Q	probably benign	Het
Rtf2	A	G	2: 172,440,825		probably benign	Het
Serhl	A	C	15: 83,102,966	K131N	possibly damaging	Het
Sidt1	T	A	16: 44,255,029		probably null	Het
Slc27a1	T	A	8: 71,580,164	Y248*	probably null	Het
Slitrk3	T	A	3: 73,051,283	E52V	possibly damaging	Het
Snx2	T	C	18: 53,210,343	V271A	probably benign	Het
Snx9	C	A	17: 5,899,493	P156Q	probably damaging	Het
Spag6	C	A	2: 18,710,558	Y71*	probably null	Het
Speg	A	G	1: 75,417,733	D1724G	probably damaging	Het
Svs1	A	G	6: 48,988,840	Y594C	probably damaging	Het
Syt7	A	G	19: 10,444,168	N572S	probably damaging	Het
Ticam2	A	G	18: 46,560,699	I107T	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem268	G	A	4: 63,570,019	V135M	probably benign	Het
Toporsl	A	G	4: 52,611,663	T519A	possibly damaging	Het
Trim43b	G	A	9: 89,091,555	L42F	possibly damaging	Het
Ttf2	A	C	3: 100,944,773	V1019G	probably damaging	Het
Ugt3a1	A	G	15: 9,292,072	D97G	probably benign	Het
Uncx	A	G	5: 139,546,720	N180S	probably damaging	Het
Vmn2r23	A	G	6: 123,733,393	T552A	probably damaging	Het
Vmn2r51	A	T	7: 10,099,889	H407Q	probably damaging	Het
Wdfy4	C	T	14: 33,133,561	E699K		Het
Wdr95	A	G	5: 149,580,700	T324A	probably benign	Het

Other mutations in Aldh8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Aldh8a1	APN	10	21395430	missense	probably damaging	0.98
IGL01095:Aldh8a1	APN	10	21389281	missense	probably benign	0.18
IGL01525:Aldh8a1	APN	10	21391573	missense	probably damaging	0.98
IGL02206:Aldh8a1	APN	10	21395575	missense	probably benign	0.00
IGL02232:Aldh8a1	APN	10	21395646	missense	probably damaging	1.00
IGL03213:Aldh8a1	APN	10	21384717	missense	probably damaging	0.97
R0105:Aldh8a1	UTSW	10	21395539	missense	probably damaging	0.99
R0105:Aldh8a1	UTSW	10	21395539	missense	probably damaging	0.99
R0893:Aldh8a1	UTSW	10	21391694	missense	probably benign	0.19
R1168:Aldh8a1	UTSW	10	21384631	splice site	probably null
R1764:Aldh8a1	UTSW	10	21395493	missense	probably benign	0.01
R4016:Aldh8a1	UTSW	10	21395571	missense	probably benign	0.00
R4464:Aldh8a1	UTSW	10	21388941	intron	probably benign
R4915:Aldh8a1	UTSW	10	21395763	missense	probably damaging	1.00
R5816:Aldh8a1	UTSW	10	21395430	missense	probably damaging	0.98
R6032:Aldh8a1	UTSW	10	21389071	missense	probably benign	0.29
R6032:Aldh8a1	UTSW	10	21389071	missense	probably benign	0.29
R6581:Aldh8a1	UTSW	10	21380842	missense	probably damaging	1.00
R7422:Aldh8a1	UTSW	10	21389097	missense	possibly damaging	0.74
R7458:Aldh8a1	UTSW	10	21395593	missense	possibly damaging	0.95
R7574:Aldh8a1	UTSW	10	21380830	missense	possibly damaging	0.78
R8014:Aldh8a1	UTSW	10	21389302	missense	probably benign	0.03
R8150:Aldh8a1	UTSW	10	21395545	missense	probably damaging	1.00
R8151:Aldh8a1	UTSW	10	21395566	missense	probably damaging	0.97
R8160:Aldh8a1	UTSW	10	21395791	missense	possibly damaging	0.89
R9058:Aldh8a1	UTSW	10	21382445	missense	possibly damaging	0.50
R9250:Aldh8a1	UTSW	10	21382360	missense	probably damaging	0.98
R9578:Aldh8a1	UTSW	10	21377382	missense	probably damaging	1.00
X0011:Aldh8a1	UTSW	10	21389239	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCTTGTCATAAAACCTCCAG -3'
(R):5'- AAAGCTGGACCTAACGGTTG -3'

Sequencing Primer
(F):5'- TTGTCATAAAACCTCCAGATGCAGTC -3'
(R):5'- GTTGCCGGGATACACTCCTC -3'

Posted On

2022-06-15