Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02232:Aldh8a1'

285765

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh8a1

Ensembl Gene

ENSMUSG00000037542

Gene Name

aldehyde dehydrogenase 8 family, member A1

Synonyms

RALDH4

Accession Numbers

Essential gene?

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

Stock #

IGL02232

Quality Score

Status

Chromosome

Chromosomal Location

21377291-21396585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21395646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 424 (W424R)

Ref Sequence

ENSEMBL: ENSMUSP00000038878 (fasta)

Gene Model

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

AlphaFold

Q8BH00

Predicted Effect

probably damaging
Transcript: ENSMUST00000042699
AA Change: W424R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: W424R

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

Coding Region Coverage

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	A	G	X: 12,664,525	V199A	possibly damaging	Het
Aco1	T	C	4: 40,175,996	M210T	probably damaging	Het
Actr10	G	A	12: 70,943,515	E114K	probably benign	Het
Adam6b	T	C	12: 113,491,144	M527T	probably benign	Het
Ahi1	C	T	10: 20,981,375	T623M	probably damaging	Het
Apeh	A	T	9: 108,091,872	S299T	probably benign	Het
Bbs5	A	C	2: 69,655,551	I147L	probably benign	Het
Bmp2k	T	G	5: 97,031,250		probably benign	Het
C2cd6	A	G	1: 59,062,492	F336S	probably damaging	Het
Ccdc129	A	G	6: 55,967,937	T548A	unknown	Het
Cd274	T	A	19: 29,382,538	L248M	probably damaging	Het
Chsy3	T	A	18: 59,409,311	M507K	possibly damaging	Het
Clip2	T	C	5: 134,503,130	N572S	probably damaging	Het
Commd9	A	G	2: 101,900,979	T170A	probably benign	Het
Cpt1c	G	A	7: 44,960,156	S674L	probably damaging	Het
Dhx33	C	A	11: 70,987,204	R671L	probably damaging	Het
Dnah5	G	A	15: 28,299,240	E1583K	probably damaging	Het
Eed	G	T	7: 89,972,285	N51K	probably damaging	Het
Efcab14	A	G	4: 115,760,064		probably benign	Het
Ephb2	A	C	4: 136,657,451	M884R	probably damaging	Het
Foxn2	G	T	17: 88,463,051	A109S	probably benign	Het
Fut1	A	T	7: 45,619,447	D220V	probably damaging	Het
Gm6468	C	T	5: 95,281,207		noncoding transcript	Het
Gm7964	A	T	7: 83,756,307		noncoding transcript	Het
Gm9772	C	T	17: 22,007,050		probably benign	Het
Golph3	G	T	15: 12,349,492	M199I	probably benign	Het
Itpr1	A	G	6: 108,417,923	N1666D	probably damaging	Het
Kif12	C	T	4: 63,166,495	E529K	probably benign	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Lrrc52	T	A	1: 167,466,380	N112I	probably damaging	Het
Msi1	T	A	5: 115,441,447		probably null	Het
Nasp	T	G	4: 116,604,800	E170A	probably damaging	Het
Necab2	T	A	8: 119,462,652	V187E	probably damaging	Het
Obscn	T	C	11: 59,038,978	E5790G	probably damaging	Het
Olfr461	A	G	6: 40,544,046	L311P	probably damaging	Het
Olfr872	A	T	9: 20,260,215	D125V	probably damaging	Het
Pard3b	C	T	1: 62,166,382	T445I	probably damaging	Het
Pcdh10	A	G	3: 45,380,942	I564V	probably benign	Het
Pcdhb22	T	A	18: 37,520,549	L690Q	probably damaging	Het
Pemt	T	A	11: 59,976,854	T115S	probably damaging	Het
Plcl2	A	G	17: 50,606,641	N226S	possibly damaging	Het
Ppp6r1	A	G	7: 4,633,342	S750P	probably damaging	Het
Prtg	T	C	9: 72,851,489	V375A	probably damaging	Het
Psd3	A	C	8: 67,904,145	M673R	probably damaging	Het
Ptprt	T	C	2: 161,530,517	I1392V	probably damaging	Het
Rlf	G	A	4: 121,182,614	T200I	probably benign	Het
Robo1	G	A	16: 72,971,984	G479D	possibly damaging	Het
Rpe65	A	G	3: 159,604,351	D87G	possibly damaging	Het
Sema3g	T	C	14: 31,221,224	V148A	probably damaging	Het
Sgms2	G	A	3: 131,323,184	P341S	probably benign	Het
Skint7	A	T	4: 111,982,028	Q173L	possibly damaging	Het
Slc2a9	G	A	5: 38,436,670	A150V	probably benign	Het
Slc35c2	A	G	2: 165,282,881	L58P	probably damaging	Het
Slc7a6	G	A	8: 106,196,574	C495Y	possibly damaging	Het
Smurf1	G	A	5: 144,886,438	P458L	probably damaging	Het
Spag1	C	T	15: 36,221,564	T601I	probably benign	Het
Spink8	A	T	9: 109,820,597	Q49L	possibly damaging	Het
Spout1	A	T	2: 30,175,254	Y284N	probably damaging	Het
Srrm1	A	T	4: 135,353,116	M1K	probably null	Het
Stxbp5l	A	G	16: 37,329,895	L116P	probably damaging	Het
Tlr9	T	C	9: 106,224,937	F476L	probably damaging	Het
Tmem41b	A	G	7: 109,978,753	V108A	probably damaging	Het
Tra2b	A	G	16: 22,249,040		probably benign	Het
Trio	G	T	15: 27,902,561	H271Q	probably benign	Het
Ttn	A	G	2: 76,892,919		probably benign	Het
Usp51	A	T	X: 153,008,673	H421L	probably damaging	Het
Vmn2r29	A	T	7: 7,241,811	W355R	probably damaging	Het
Vpreb1	T	C	16: 16,868,739	N96D	possibly damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zp3r	C	A	1: 130,596,667	C213F	probably damaging	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
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
R9451:Aldh8a1	UTSW	10	21389133	missense	probably benign
R9578:Aldh8a1	UTSW	10	21377382	missense	probably damaging	1.00
X0011:Aldh8a1	UTSW	10	21389239	missense	probably damaging	1.00

Posted On

2015-04-16