Mutagenetix > Incidental Mutation

Incidental Mutation 'R6032:Aldh8a1'

486331

Institutional Source

Beutler Lab

Gene Symbol

Aldh8a1

Ensembl Gene

ENSMUSG00000037542

Gene Name

aldehyde dehydrogenase 8 family, member A1

Synonyms

RALDH4

MMRRC Submission

044204-MU

Accession Numbers

Essential gene?

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

Stock #

R6032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21253199-21272477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21264970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 199 (V199A)

Ref Sequence

ENSEMBL: ENSMUSP00000038878 (fasta)

Gene Model

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

AlphaFold

Q8BH00

Predicted Effect

probably benign
Transcript: ENSMUST00000042699
AA Change: V199A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: V199A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159163

SMART Domains

Protein: ENSMUSP00000124448
Gene: ENSMUSG00000037542

Domain	Start	End	E-Value	Type
Pfam:Aldedh	16	205	1.3e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161285

Meta Mutation Damage Score

0.4664

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2ml1	T	A	6: 128,526,799 (GRCm39)	K1071*	probably null	Het
Abca13	G	T	11: 9,247,752 (GRCm39)	V2500F	possibly damaging	Het
Adamdec1	T	C	14: 68,816,633 (GRCm39)	E85G	probably damaging	Het
Aoc2	G	A	11: 101,216,627 (GRCm39)	V237M	probably damaging	Het
Aplp2	C	T	9: 31,062,240 (GRCm39)	R672H	probably damaging	Het
Apob	A	G	12: 8,045,513 (GRCm39)	N886S	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atp6v1a	T	C	16: 43,927,303 (GRCm39)	Y328C	probably damaging	Het
Bag4	T	C	8: 26,267,521 (GRCm39)	Y103C	probably damaging	Het
Crem	C	T	18: 3,267,673 (GRCm39)	R190Q	probably damaging	Het
Crybg1	A	G	10: 43,832,756 (GRCm39)	S2000P	probably damaging	Het
Cubn	T	A	2: 13,329,995 (GRCm39)	T2629S	probably benign	Het
Cyp3a44	G	T	5: 145,714,756 (GRCm39)	S465Y	probably damaging	Het
Daam2	A	C	17: 49,793,525 (GRCm39)	F331V	probably damaging	Het
Dnajc3	T	C	14: 119,205,443 (GRCm39)	S146P	possibly damaging	Het
Dscam	A	G	16: 96,451,191 (GRCm39)		probably null	Het
Fam184b	G	A	5: 45,740,238 (GRCm39)	S316L	probably benign	Het
Fat2	G	C	11: 55,144,760 (GRCm39)	T4038S	probably damaging	Het
Fbxl19	C	T	7: 127,360,437 (GRCm39)	R439C	probably damaging	Het
Gm3454	T	A	15: 75,183,448 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,617 (GRCm39)	E284G	probably benign	Het
Grm1	A	T	10: 10,595,549 (GRCm39)	I693N	probably damaging	Het
Gsdme	T	A	6: 50,222,934 (GRCm39)	Q127L	probably damaging	Het
Ifnlr1	A	G	4: 135,432,937 (GRCm39)	K458E	probably benign	Het
Kcns2	T	C	15: 34,839,080 (GRCm39)	F148L	probably benign	Het
Lama1	A	G	17: 68,057,638 (GRCm39)	T571A	probably benign	Het
Loxhd1	G	A	18: 77,469,254 (GRCm39)	V108M	probably damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Ncor1	A	T	11: 62,264,147 (GRCm39)	D144E	possibly damaging	Het
Nos3	A	T	5: 24,584,809 (GRCm39)	T738S	probably benign	Het
Nrxn2	A	T	19: 6,567,162 (GRCm39)	T1353S	probably damaging	Het
Or2b7	G	T	13: 21,740,077 (GRCm39)	S38R	probably benign	Het
Or4f4b	T	C	2: 111,314,195 (GRCm39)	L140P	probably damaging	Het
Or8g17	A	G	9: 38,930,261 (GRCm39)	I192T	probably benign	Het
Pfpl	A	G	19: 12,406,747 (GRCm39)	T333A	probably damaging	Het
Postn	A	T	3: 54,284,137 (GRCm39)	I565F	possibly damaging	Het
Ppef2	A	G	5: 92,378,383 (GRCm39)	V604A	probably benign	Het
Pramel13	A	C	4: 144,119,598 (GRCm39)	I323S	possibly damaging	Het
Prmt1	A	G	7: 44,626,526 (GRCm39)		probably null	Het
Rel	A	G	11: 23,692,684 (GRCm39)	S450P	probably benign	Het
Rpap2	A	C	5: 107,745,661 (GRCm39)	D3A	probably damaging	Het
Shisa9	T	C	16: 11,802,772 (GRCm39)	F110L	possibly damaging	Het
Slc25a10	A	T	11: 120,385,784 (GRCm39)		probably null	Het
Slx4	A	T	16: 3,798,021 (GRCm39)	F1454L	probably damaging	Het
Smc1b	A	T	15: 84,950,430 (GRCm39)	V1198D	possibly damaging	Het
Supt5	T	C	7: 28,015,600 (GRCm39)	Y879C	probably damaging	Het
Tbx15	T	C	3: 99,259,833 (GRCm39)	M568T	probably benign	Het
Tle4	T	C	19: 14,429,472 (GRCm39)	H698R	possibly damaging	Het
Trappc9	T	C	15: 72,797,379 (GRCm39)	N803D	probably benign	Het
Trim10	A	T	17: 37,182,606 (GRCm39)	R157S	possibly damaging	Het
Wsb1	T	C	11: 79,131,025 (GRCm39)		probably benign	Het
Zfp106	T	C	2: 120,365,874 (GRCm39)	S178G	probably benign	Het
Zftraf1	C	T	15: 76,543,058 (GRCm39)	R34Q	probably damaging	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
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
R8151:Aldh8a1	UTSW	10	21,271,465 (GRCm39)	missense	probably damaging	0.97
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'- TCTTTCCAGGCCAAAGCACC -3'
(R):5'- ATAGCAGGATTCTTGCCTCCC -3'

Sequencing Primer
(F):5'- TCTATAAGCAGAGGTGACTTTGTAG -3'
(R):5'- CAGCTCCAGGGAAAGCTTCTTG -3'

Posted On

2017-08-16