Mutagenetix > Incidental Mutation

Incidental Mutation 'R0105:Aldh8a1'

33272

Institutional Source

Beutler Lab

Gene Symbol

Aldh8a1

Ensembl Gene

ENSMUSG00000037542

Gene Name

aldehyde dehydrogenase 8 family, member A1

Synonyms

RALDH4

MMRRC Submission

038391-MU

Accession Numbers

Essential gene?

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

Stock #

R0105 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

21253199-21272477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21271438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 388 (M388K)

Ref Sequence

ENSEMBL: ENSMUSP00000038878 (fasta)

Gene Model

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

AlphaFold

Q8BH00

Predicted Effect

probably damaging
Transcript: ENSMUST00000042699
AA Change: M388K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: M388K

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

Meta Mutation Damage Score

0.3667

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (70/70)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	G	A	6: 133,271,277 (GRCm39)	R107K	probably benign	Het
A530053G22Rik	T	C	6: 60,379,137 (GRCm39)		noncoding transcript	Het
Adcy9	A	G	16: 4,106,252 (GRCm39)	V954A	probably damaging	Het
Ankhd1	A	G	18: 36,779,819 (GRCm39)	I1720M	probably damaging	Het
Atp6v0a4	T	C	6: 38,030,064 (GRCm39)		probably benign	Het
C1qtnf4	T	A	2: 90,720,707 (GRCm39)	*327R	probably null	Het
C1s1	T	C	6: 124,518,277 (GRCm39)		probably benign	Het
Cdsn	A	C	17: 35,867,035 (GRCm39)	R521S	possibly damaging	Het
Cgnl1	T	C	9: 71,563,384 (GRCm39)	M848V	probably benign	Het
Cog3	A	G	14: 75,959,580 (GRCm39)	S591P	probably damaging	Het
Col6a3	A	G	1: 90,725,883 (GRCm39)	V1375A	possibly damaging	Het
Cplane1	T	A	15: 8,216,876 (GRCm39)	V698D	probably benign	Het
Cr1l	A	G	1: 194,794,720 (GRCm39)		probably benign	Het
Crmp1	T	A	5: 37,441,479 (GRCm39)	D520E	probably damaging	Het
Ctdspl2	T	A	2: 121,807,801 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,132,262 (GRCm39)	A1147T	probably damaging	Het
Dsg2	T	C	18: 20,735,111 (GRCm39)	S1030P	probably benign	Het
Elavl3	C	A	9: 21,948,129 (GRCm39)	V12F	possibly damaging	Het
Fam20b	T	C	1: 156,518,140 (GRCm39)	E218G	probably damaging	Het
Fam227a	T	C	15: 79,505,033 (GRCm39)	D466G	possibly damaging	Het
Fto	G	A	8: 92,249,430 (GRCm39)	E421K	probably damaging	Het
Gab2	T	C	7: 96,948,279 (GRCm39)	Y290H	probably damaging	Het
Gm973	A	G	1: 59,621,633 (GRCm39)	Q591R	probably null	Het
Gsdmc2	T	C	15: 63,700,026 (GRCm39)	T249A	probably benign	Het
Il15ra	T	A	2: 11,735,459 (GRCm39)		probably null	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Il6ra	A	G	3: 89,784,125 (GRCm39)	I382T	probably damaging	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Krt76	T	C	15: 101,793,347 (GRCm39)	T564A	unknown	Het
Lhpp	T	C	7: 132,232,254 (GRCm39)	S57P	probably damaging	Het
Lrrk1	G	T	7: 65,942,089 (GRCm39)	D716E	probably damaging	Het
Mcm3ap	T	A	10: 76,335,368 (GRCm39)	D1263E	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mroh7	T	C	4: 106,568,467 (GRCm39)	T48A	possibly damaging	Het
Nccrp1	T	C	7: 28,246,463 (GRCm39)	D33G	probably benign	Het
Neurog1	G	T	13: 56,399,050 (GRCm39)	D232E	probably benign	Het
Or4a71	T	C	2: 89,358,707 (GRCm39)	T16A	probably benign	Het
Or4c105	T	A	2: 88,648,253 (GRCm39)	V246D	probably damaging	Het
Otog	C	A	7: 45,937,790 (GRCm39)	T1833K	possibly damaging	Het
Perm1	C	A	4: 156,302,682 (GRCm39)	H409N	probably benign	Het
Pik3r5	A	T	11: 68,381,337 (GRCm39)	E174D	probably damaging	Het
Pkhd1	G	A	1: 20,593,956 (GRCm39)	Q1386*	probably null	Het
Pla2r1	T	C	2: 60,345,325 (GRCm39)	R344G	possibly damaging	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plekhg4	G	A	8: 106,108,644 (GRCm39)	V1202M	possibly damaging	Het
Ppil4	A	G	10: 7,674,210 (GRCm39)	Y118C	probably damaging	Het
Prrc2b	G	T	2: 32,103,323 (GRCm39)	E934*	probably null	Het
Psmb9	A	G	17: 34,406,249 (GRCm39)	F12S	probably benign	Het
Ptdss2	T	C	7: 140,732,793 (GRCm39)	W183R	probably damaging	Het
Ptpn4	C	T	1: 119,615,335 (GRCm39)		probably null	Het
Reln	G	A	5: 22,253,813 (GRCm39)	R600W	probably damaging	Het
Scml4	T	A	10: 42,806,595 (GRCm39)	V161E	probably damaging	Het
Sdcbp2	A	T	2: 151,431,478 (GRCm39)	T284S	probably benign	Het
Slc22a29	T	C	19: 8,137,991 (GRCm39)		probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Spen	T	C	4: 141,197,121 (GRCm39)		probably benign	Het
Sumf2	T	A	5: 129,878,735 (GRCm39)		probably benign	Het
Tbx10	A	G	19: 4,043,121 (GRCm39)		probably benign	Het
Tex10	C	A	4: 48,468,957 (GRCm39)	V73F	probably damaging	Het
Tgm5	C	A	2: 120,907,493 (GRCm39)	G77W	probably damaging	Het
Tnfrsf21	T	A	17: 43,351,082 (GRCm39)		probably null	Het
Treml2	C	T	17: 48,609,856 (GRCm39)	T96I	probably damaging	Het
Trim65	T	C	11: 116,016,892 (GRCm39)	*523W	probably null	Het
Zcchc17	T	A	4: 130,243,099 (GRCm39)	D28V	probably benign	Het
Zhx2	T	C	15: 57,686,091 (GRCm39)	F487L	probably damaging	Het
Zkscan6	T	A	11: 65,712,811 (GRCm39)	L248Q	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
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
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'- TGTGTGAAACACCCAACGGTAAGAG -3'
(R):5'- TTCATCCCTCCAAAGGGCAGGTTC -3'

Sequencing Primer
(F):5'- TTGAAAGCTCAGACTGAGGG -3'
(R):5'- AGGTTCAGCTCCCTGATGAG -3'

Posted On

2013-05-09