Mutagenetix > Incidental Mutation

Incidental Mutation 'R8151:Aldh8a1'

632965

Institutional Source

Beutler Lab

Gene Symbol

Aldh8a1

Ensembl Gene

ENSMUSG00000037542

Gene Name

aldehyde dehydrogenase 8 family, member A1

Synonyms

RALDH4

MMRRC Submission

067577-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R8151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21253199-21272477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21271465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 397 (T397M)

Ref Sequence

ENSEMBL: ENSMUSP00000038878 (fasta)

Gene Model

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

AlphaFold

Q8BH00

Predicted Effect

probably damaging
Transcript: ENSMUST00000042699
AA Change: T397M

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: T397M

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.6%

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 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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,982,043 (GRCm39)	I1109T	possibly damaging	Het
Aipl1	C	A	11: 71,927,584 (GRCm39)	D44Y	probably benign	Het
Btbd16	T	C	7: 130,398,825 (GRCm39)	S278P	probably damaging	Het
Ccdc110	G	A	8: 46,395,830 (GRCm39)	E574K	probably damaging	Het
Cd19	T	A	7: 126,013,478 (GRCm39)	K104*	probably null	Het
Cenpe	A	G	3: 134,952,783 (GRCm39)	E1491G	probably benign	Het
Col12a1	A	T	9: 79,537,831 (GRCm39)	S2546T	possibly damaging	Het
Col18a1	T	C	10: 76,948,418 (GRCm39)	T365A	unknown	Het
Ctif	G	T	18: 75,653,176 (GRCm39)	D360E	probably benign	Het
Fat4	G	A	3: 38,946,203 (GRCm39)	E1699K	probably damaging	Het
Fbxo39	G	A	11: 72,208,526 (GRCm39)	V293M	probably damaging	Het
Fcgbpl1	T	C	7: 27,852,766 (GRCm39)	I1351T	possibly damaging	Het
Fhip1a	A	T	3: 85,595,847 (GRCm39)	I346N	probably damaging	Het
Havcr2	A	G	11: 46,366,722 (GRCm39)	K221E	possibly damaging	Het
Hdac5	T	C	11: 102,097,294 (GRCm39)	T209A	probably benign	Het
Herc1	A	G	9: 66,341,073 (GRCm39)	Q1730R	probably damaging	Het
Ifi202b	T	C	1: 173,804,923 (GRCm39)	T10A	probably benign	Het
Il18rap	T	C	1: 40,564,428 (GRCm39)	S153P	probably benign	Het
Klk1b21	C	T	7: 43,753,787 (GRCm39)	R24*	probably null	Het
Kras	ACTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTC	6: 145,166,360 (GRCm39)		probably benign	Het
Ldlrad4	A	G	18: 68,383,643 (GRCm39)	E113G	possibly damaging	Het
Lhcgr	AT	ATT	17: 89,049,677 (GRCm39)	615	probably null	Het
Macf1	T	C	4: 123,291,206 (GRCm39)	E3895G	possibly damaging	Het
Mug1	T	C	6: 121,818,117 (GRCm39)	S143P	probably benign	Het
Nudcd2	A	T	11: 40,624,529 (GRCm39)		probably benign	Het
Nup85	A	G	11: 115,468,759 (GRCm39)	T201A	probably benign	Het
Odad2	A	G	18: 7,127,358 (GRCm39)	F952L	probably damaging	Het
Plppr2	A	G	9: 21,852,105 (GRCm39)	E64G	probably damaging	Het
Plvap	A	G	8: 71,960,625 (GRCm39)	S264P	probably benign	Het
Polm	T	C	11: 5,787,906 (GRCm39)		probably benign	Het
Polr2d	T	A	18: 31,928,365 (GRCm39)	H93Q	probably damaging	Het
Ptprt	T	C	2: 162,120,005 (GRCm39)	E154G	probably damaging	Het
Rasal2	C	A	1: 157,071,154 (GRCm39)	G67C	probably damaging	Het
Sdk2	A	G	11: 113,763,683 (GRCm39)	V329A	possibly damaging	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Spef2	A	G	15: 9,601,598 (GRCm39)	S1555P	unknown	Het
Srgap3	A	C	6: 112,793,628 (GRCm39)	L116R	probably damaging	Het
St6galnac3	C	T	3: 153,117,217 (GRCm39)	V169M	probably damaging	Het
Stx16	T	A	2: 173,935,284 (GRCm39)	M206K	possibly damaging	Het
Txnip	A	G	3: 96,466,929 (GRCm39)	D201G	possibly damaging	Het
Ubr4	T	C	4: 139,130,112 (GRCm39)	V718A	probably damaging	Het
Vav3	A	C	3: 109,416,164 (GRCm39)	D261A	probably benign	Het
Vcam1	A	C	3: 115,918,128 (GRCm39)	L278V	possibly damaging	Het
Vta1	C	A	10: 14,543,697 (GRCm39)	A226S	probably damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp777	G	A	6: 48,006,075 (GRCm39)	Q440*	probably null	Het

Other mutations in Aldh8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Aldh8a1	APN	10	21,271,329 (GRCm39)	missense	probably damaging	0.98
IGL01095:Aldh8a1	APN	10	21,265,180 (GRCm39)	missense	probably benign	0.18
IGL01525:Aldh8a1	APN	10	21,267,472 (GRCm39)	missense	probably damaging	0.98
IGL02206:Aldh8a1	APN	10	21,271,474 (GRCm39)	missense	probably benign	0.00
IGL02232:Aldh8a1	APN	10	21,271,545 (GRCm39)	missense	probably damaging	1.00
IGL03213:Aldh8a1	APN	10	21,260,616 (GRCm39)	missense	probably damaging	0.97
R0105:Aldh8a1	UTSW	10	21,271,438 (GRCm39)	missense	probably damaging	0.99
R0105:Aldh8a1	UTSW	10	21,271,438 (GRCm39)	missense	probably damaging	0.99
R0893:Aldh8a1	UTSW	10	21,267,593 (GRCm39)	missense	probably benign	0.19
R1168:Aldh8a1	UTSW	10	21,260,530 (GRCm39)	splice site	probably null
R1764:Aldh8a1	UTSW	10	21,271,392 (GRCm39)	missense	probably benign	0.01
R4016:Aldh8a1	UTSW	10	21,271,470 (GRCm39)	missense	probably benign	0.00
R4464:Aldh8a1	UTSW	10	21,264,840 (GRCm39)	intron	probably benign
R4915:Aldh8a1	UTSW	10	21,271,662 (GRCm39)	missense	probably damaging	1.00
R5816:Aldh8a1	UTSW	10	21,271,329 (GRCm39)	missense	probably damaging	0.98
R6032:Aldh8a1	UTSW	10	21,264,970 (GRCm39)	missense	probably benign	0.29
R6032:Aldh8a1	UTSW	10	21,264,970 (GRCm39)	missense	probably benign	0.29
R6581:Aldh8a1	UTSW	10	21,256,741 (GRCm39)	missense	probably damaging	1.00
R7422:Aldh8a1	UTSW	10	21,264,996 (GRCm39)	missense	possibly damaging	0.74
R7458:Aldh8a1	UTSW	10	21,271,492 (GRCm39)	missense	possibly damaging	0.95
R7574:Aldh8a1	UTSW	10	21,256,729 (GRCm39)	missense	possibly damaging	0.78
R8014:Aldh8a1	UTSW	10	21,265,201 (GRCm39)	missense	probably benign	0.03
R8150:Aldh8a1	UTSW	10	21,271,444 (GRCm39)	missense	probably damaging	1.00
R8160:Aldh8a1	UTSW	10	21,271,690 (GRCm39)	missense	possibly damaging	0.89
R9058:Aldh8a1	UTSW	10	21,258,344 (GRCm39)	missense	possibly damaging	0.50
R9250:Aldh8a1	UTSW	10	21,258,259 (GRCm39)	missense	probably damaging	0.98
R9451:Aldh8a1	UTSW	10	21,265,032 (GRCm39)	missense	probably benign
R9578:Aldh8a1	UTSW	10	21,253,281 (GRCm39)	missense	probably damaging	1.00
X0011:Aldh8a1	UTSW	10	21,265,138 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAAACACCCAACGGTAAG -3'
(R):5'- AGCTCTTCATCCCTCCAAAGG -3'

Sequencing Primer
(F):5'- TCCCCCAGGTCAGAAGTTATG -3'
(R):5'- TCCAAAGGGCAGGTTCAGCTC -3'

Posted On

2020-06-30