Mutagenetix > Incidental Mutation

Incidental Mutation 'R0689:Aldh1a3'

61276

Institutional Source

Beutler Lab

Gene Symbol

Aldh1a3

Ensembl Gene

ENSMUSG00000015134

Gene Name

aldehyde dehydrogenase family 1, subfamily A3

Synonyms

RALDH3, V1, ALDH6, retinaldehyde dehydrogenase 3

MMRRC Submission

038874-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.459) question?

Stock #

R0689 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

66040640-66077225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66051753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 400 (D400V)

Ref Sequence

ENSEMBL: ENSMUSP00000015278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015278]

AlphaFold

Q9JHW9

Predicted Effect

probably benign
Transcript: ENSMUST00000015278
AA Change: D400V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000015278
Gene: ENSMUSG00000015134
AA Change: D400V

Domain	Start	End	E-Value	Type
Pfam:Aldedh	40	503	1.2e-188	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173756

Predicted Effect

probably benign
Transcript: ENSMUST00000174701

SMART Domains

Protein: ENSMUSP00000133370
Gene: ENSMUSG00000015134

Domain	Start	End	E-Value	Type
Pfam:Aldedh	1	155	2.7e-55	PFAM
Pfam:Aldedh	151	277	1.7e-46	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.4%
20x: 91.1%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Nullizygous mice show neonatal death and persistent hyperplastic primary vitreous. Homozygotes for a null allele have choanal atresia, ethmoturbinal hypoplasia, ventral lens rotation, short ventral retina and no Harderian gland. Homozygotes for another allele show thick neural retina and no vitreum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	A	7: 28,596,474 (GRCm39)	G674W	probably damaging	Het
Adcy9	A	G	16: 4,130,668 (GRCm39)		probably benign	Het
Adgrv1	C	T	13: 81,623,224 (GRCm39)	V3800I	possibly damaging	Het
Agl	A	G	3: 116,587,277 (GRCm39)	Y93H	probably damaging	Het
Bpifc	A	G	10: 85,796,411 (GRCm39)		probably benign	Het
Cachd1	G	T	4: 100,832,073 (GRCm39)	R745L	probably damaging	Het
Cadm3	T	A	1: 173,172,019 (GRCm39)	T185S	possibly damaging	Het
Cep85l	G	T	10: 53,224,943 (GRCm39)	D215E	probably damaging	Het
Ces1g	A	G	8: 94,055,035 (GRCm39)	S221P	probably damaging	Het
Cfap206	C	T	4: 34,722,668 (GRCm39)	V138M	probably benign	Het
Csmd3	A	T	15: 47,619,421 (GRCm39)	F1714I	probably benign	Het
Cyp4f18	A	G	8: 72,749,812 (GRCm39)	L279P	probably benign	Het
Dnah7a	G	A	1: 53,659,840 (GRCm39)	Q723*	probably null	Het
Dnaja2	A	G	8: 86,273,347 (GRCm39)		probably benign	Het
Dnajc6	T	C	4: 101,468,450 (GRCm39)	V162A	possibly damaging	Het
Dok4	T	C	8: 95,597,547 (GRCm39)	T3A	probably benign	Het
Efcab7	T	C	4: 99,761,981 (GRCm39)	W424R	probably damaging	Het
Fah	A	T	7: 84,242,392 (GRCm39)		probably null	Het
Fam120a	T	C	13: 49,121,114 (GRCm39)	D64G	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gas8	T	G	8: 124,250,845 (GRCm39)	L106R	probably damaging	Het
Gykl1	T	G	18: 52,827,123 (GRCm39)	N110K	possibly damaging	Het
Hsd3b3	G	T	3: 98,649,295 (GRCm39)	L343I	possibly damaging	Het
Itch	T	A	2: 155,024,098 (GRCm39)	S234T	possibly damaging	Het
Itgbl1	A	T	14: 124,065,259 (GRCm39)	I61F	possibly damaging	Het
Klf6	T	A	13: 5,915,115 (GRCm39)	S185T	probably damaging	Het
Klk1b1	A	C	7: 43,620,143 (GRCm39)	K202T	probably benign	Het
Liph	T	C	16: 21,786,818 (GRCm39)	Y268C	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myo9b	G	A	8: 71,783,400 (GRCm39)	D574N	probably damaging	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Nipbl	A	G	15: 8,322,562 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,194 (GRCm39)	N355K	probably benign	Het
Or4k15c	A	T	14: 50,321,689 (GRCm39)	F150I	probably benign	Het
Pcdhb21	A	G	18: 37,648,370 (GRCm39)	T500A	probably benign	Het
Pclo	A	G	5: 14,764,033 (GRCm39)	I4169V	unknown	Het
Pde4d	T	C	13: 109,877,078 (GRCm39)	S144P	possibly damaging	Het
Pgghg	T	C	7: 140,523,191 (GRCm39)	Y157H	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pla2g12a	T	C	3: 129,674,947 (GRCm39)		probably null	Het
Ppp1r14d	T	C	2: 119,060,093 (GRCm39)	D63G	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,823,449 (GRCm39)	D690V	probably damaging	Het
Skp1	T	C	11: 52,134,592 (GRCm39)		probably benign	Het
Slc25a12	T	C	2: 71,141,837 (GRCm39)	Y272C	possibly damaging	Het
Slc37a2	A	G	9: 37,146,846 (GRCm39)		probably benign	Het
Snx6	A	T	12: 54,810,441 (GRCm39)	S112T	probably benign	Het
Sox6	A	G	7: 115,085,786 (GRCm39)	V685A	probably damaging	Het
Taf2	A	T	15: 54,926,461 (GRCm39)	V163E	possibly damaging	Het
Tg	A	T	15: 66,711,253 (GRCm39)		probably benign	Het
Tmem30c	A	G	16: 57,090,536 (GRCm39)	Y224H	probably damaging	Het
Tmem45b	T	C	9: 31,339,879 (GRCm39)	N173D	probably benign	Het
Traf5	T	C	1: 191,729,837 (GRCm39)	T405A	probably benign	Het
Trerf1	C	T	17: 47,630,300 (GRCm39)		noncoding transcript	Het
Triobp	A	T	15: 78,844,188 (GRCm39)	K135*	probably null	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Vmn1r63	T	C	7: 5,806,609 (GRCm39)	I8V	probably benign	Het
Vmn2r77	A	T	7: 86,460,872 (GRCm39)	I733F	probably damaging	Het
Vmn2r98	T	C	17: 19,300,782 (GRCm39)	S595P	possibly damaging	Het
Zcchc2	C	T	1: 105,958,234 (GRCm39)	Q504*	probably null	Het
Zfp2	T	C	11: 50,791,734 (GRCm39)	D103G	probably benign	Het
Zfp59	A	G	7: 27,553,142 (GRCm39)	K198R	probably benign	Het
Zfp64	C	A	2: 168,777,121 (GRCm39)		probably benign	Het

Other mutations in Aldh1a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Aldh1a3	APN	7	66,058,978 (GRCm39)	missense	probably damaging	1.00
IGL01718:Aldh1a3	APN	7	66,049,953 (GRCm39)	missense	possibly damaging	0.50
IGL02009:Aldh1a3	APN	7	66,051,789 (GRCm39)	missense	probably benign	0.36
IGL02041:Aldh1a3	APN	7	66,057,579 (GRCm39)	missense	probably damaging	1.00
IGL02680:Aldh1a3	APN	7	66,055,895 (GRCm39)	missense	probably damaging	1.00
IGL02897:Aldh1a3	APN	7	66,077,075 (GRCm39)	missense	probably benign	0.02
R0279:Aldh1a3	UTSW	7	66,059,000 (GRCm39)	missense	probably benign	0.04
R0408:Aldh1a3	UTSW	7	66,055,798 (GRCm39)	missense	probably damaging	1.00
R0633:Aldh1a3	UTSW	7	66,049,970 (GRCm39)	missense	probably damaging	1.00
R0834:Aldh1a3	UTSW	7	66,062,658 (GRCm39)	missense	probably benign	0.42
R1968:Aldh1a3	UTSW	7	66,061,248 (GRCm39)	critical splice donor site	probably null
R2207:Aldh1a3	UTSW	7	66,055,769 (GRCm39)	missense	probably damaging	1.00
R2519:Aldh1a3	UTSW	7	66,072,047 (GRCm39)	missense	probably benign	0.00
R4529:Aldh1a3	UTSW	7	66,051,742 (GRCm39)	missense	probably benign
R4975:Aldh1a3	UTSW	7	66,068,927 (GRCm39)	missense	possibly damaging	0.78
R5138:Aldh1a3	UTSW	7	66,057,600 (GRCm39)	missense	probably damaging	1.00
R5761:Aldh1a3	UTSW	7	66,068,927 (GRCm39)	missense	probably damaging	0.96
R7186:Aldh1a3	UTSW	7	66,055,831 (GRCm39)	missense	probably damaging	1.00
R9155:Aldh1a3	UTSW	7	66,058,867 (GRCm39)	nonsense	probably null
R9440:Aldh1a3	UTSW	7	66,068,992 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCGAAAGTCTCAGAGATGTCAGAGC -3'
(R):5'- ACAGTCCCCTCCTGGAAGAAAGTAG -3'

Sequencing Primer
(F):5'- TTGGGGTTTGCCAAAAGCAC -3'
(R):5'- GTTATAATTCCCTTCTGTGTCTTGC -3'

Posted On

2013-07-30