Mutagenetix > Incidental Mutation

Incidental Mutation 'R9250:Aldh8a1'

701498

Institutional Source

Beutler Lab

Gene Symbol

Aldh8a1

Ensembl Gene

ENSMUSG00000037542

Gene Name

aldehyde dehydrogenase 8 family, member A1

Synonyms

RALDH4

MMRRC Submission

068989-MU

Accession Numbers

Essential gene?

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

Stock #

R9250 (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 21258259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 119 (S119P)

Ref Sequence

ENSEMBL: ENSMUSP00000038878 (fasta)

Gene Model

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

AlphaFold

Q8BH00

Predicted Effect

probably damaging
Transcript: ENSMUST00000042699
AA Change: S119P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: S119P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

98% (55/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	G	3: 137,772,389 (GRCm39)	A526G	probably damaging	Het
AAdacl4fm3	A	T	4: 144,442,011 (GRCm39)	I80K	probably benign	Het
Ablim3	A	G	18: 61,944,501 (GRCm39)	L526P	probably damaging	Het
Aknad1	T	C	3: 108,664,143 (GRCm39)	S369P	probably damaging	Het
Brpf3	T	C	17: 29,054,788 (GRCm39)	I1110T	probably damaging	Het
Cdk12	T	C	11: 98,101,398 (GRCm39)	S419P	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Crim1	C	T	17: 78,677,471 (GRCm39)	H891Y	probably benign	Het
Dapp1	T	C	3: 137,638,919 (GRCm39)	E269G	probably benign	Het
Ddt	T	C	10: 75,609,063 (GRCm39)	D32G	probably benign	Het
Dlg5	T	C	14: 24,240,543 (GRCm39)	D236G	probably benign	Het
Edem1	C	A	6: 108,805,850 (GRCm39)	D50E	probably benign	Het
Exoc5	A	T	14: 49,256,915 (GRCm39)	N490K	probably damaging	Het
Fam117a	C	A	11: 95,228,071 (GRCm39)	D60E	possibly damaging	Het
Fam186a	A	G	15: 99,845,330 (GRCm39)	S305P	unknown	Het
Fbxw21	A	G	9: 108,972,846 (GRCm39)	F363L	probably benign	Het
Fhl2	A	G	1: 43,167,422 (GRCm39)	C224R	probably damaging	Het
Gad1	T	A	2: 70,409,543 (GRCm39)	N211K	probably damaging	Het
Igdcc4	A	G	9: 65,038,932 (GRCm39)	T906A	possibly damaging	Het
Igkv3-5	T	C	6: 70,640,758 (GRCm39)	S80P	probably benign	Het
Igkv4-90	C	A	6: 68,784,331 (GRCm39)	G62*	probably null	Het
Il31ra	A	T	13: 112,669,508 (GRCm39)	Y386N	probably damaging	Het
Kif13a	G	T	13: 46,928,909 (GRCm39)	H1159N	probably damaging	Het
Kmt2a	G	A	9: 44,759,683 (GRCm39)	S722F	possibly damaging	Het
Mipep	T	C	14: 61,028,358 (GRCm39)	Y157H	probably damaging	Het
Mipol1	A	G	12: 57,461,169 (GRCm39)	E293G	probably damaging	Het
Mmp7	A	T	9: 7,697,885 (GRCm39)		probably benign	Het
Mr1	A	G	1: 155,013,325 (GRCm39)	L84P	probably damaging	Het
Neb	A	G	2: 52,168,913 (GRCm39)	V1874A	possibly damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nek1	T	C	8: 61,465,151 (GRCm39)	M80T	probably damaging	Het
Nubp2	A	G	17: 25,103,373 (GRCm39)		probably null	Het
Or10ab4	C	T	7: 107,655,014 (GRCm39)	T275M	probably damaging	Het
Or5w11	T	C	2: 87,459,278 (GRCm39)	I41T	probably benign	Het
Or8b101	T	A	9: 38,020,718 (GRCm39)	C240*	probably null	Het
Ovch2	C	A	7: 107,392,542 (GRCm39)	R267L	probably damaging	Het
Pole	A	G	5: 110,447,687 (GRCm39)	E741G	possibly damaging	Het
Ptprh	T	A	7: 4,576,289 (GRCm39)	T324S	probably benign	Het
Pxk	T	A	14: 8,144,123 (GRCm38)	H290Q	probably damaging	Het
Rab11fip3	G	T	17: 26,237,219 (GRCm39)	T5N	unknown	Het
Rp9	G	A	9: 22,365,086 (GRCm39)	Q124*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,125,459 (GRCm39)	L19P	probably benign	Het
Sf1	C	T	19: 6,424,764 (GRCm39)	P473L	unknown	Het
Slc9a2	C	T	1: 40,806,987 (GRCm39)	T758I	probably benign	Het
Spef1l	C	A	7: 139,556,395 (GRCm39)	K197N	probably benign	Het
Tas2r105	T	G	6: 131,663,951 (GRCm39)	H159P	probably benign	Het
Tas2r120	T	A	6: 132,633,954 (GRCm39)	M12K	probably benign	Het
Thoc2l	A	G	5: 104,667,320 (GRCm39)	Y614C	probably benign	Het
Trpv4	T	C	5: 114,764,941 (GRCm39)	Y691C	probably damaging	Het
Unc93a	A	G	17: 13,334,488 (GRCm39)	V337A	probably benign	Het
Usp17le	T	G	7: 104,418,839 (GRCm39)	Q101P	probably damaging	Het
Usp3	A	T	9: 66,449,793 (GRCm39)		probably null	Het
Zfp445	T	C	9: 122,681,092 (GRCm39)	S950G	possibly damaging	Het
Zfp644	T	G	5: 106,784,699 (GRCm39)	D616A	probably damaging	Het
Zfp759	T	G	13: 67,288,461 (GRCm39)	C671G	probably damaging	Het
Zgrf1	G	T	3: 127,379,797 (GRCm39)	C1111F	probably damaging	Het
Zmym2	T	A	14: 57,148,732 (GRCm39)	S349T	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
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
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'- TGTTCACAGAGACGATCTAGCTC -3'
(R):5'- AAACCGACCCCTTGTGTTTC -3'

Sequencing Primer
(F):5'- ACTCGATCCATGCAAGTGCG -3'
(R):5'- CCTTAGTCTGGCCCCTAGTAG -3'

Posted On

2022-03-25