Mutagenetix > Incidental Mutation

Incidental Mutation 'R5761:Aldh1a3'

445303

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

043363-MU

Accession Numbers

Essential gene?

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

Stock #

R5761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66040640-66077225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66068927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 19 (R19L)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015278] [ENSMUST00000174209] [ENSMUST00000174215]

AlphaFold

Q9JHW9

Predicted Effect

probably benign
Transcript: ENSMUST00000015278
AA Change: R90L

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000015278
Gene: ENSMUSG00000015134
AA Change: R90L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174209

Predicted Effect

probably benign
Transcript: ENSMUST00000174215

Predicted Effect

probably damaging
Transcript: ENSMUST00000174701
AA Change: R19L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133370
Gene: ENSMUSG00000015134
AA Change: R19L

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

0.1404

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,100,927 (GRCm39)	V953D	probably damaging	Het
Abcb8	T	C	5: 24,610,879 (GRCm39)		probably benign	Het
Acad12	A	T	5: 121,742,243 (GRCm39)		probably benign	Het
Adam2	A	T	14: 66,283,595 (GRCm39)	C436S	probably damaging	Het
Aebp2	T	C	6: 140,569,943 (GRCm39)		probably benign	Het
Akap8	A	T	17: 32,536,159 (GRCm39)	C85S	possibly damaging	Het
Baz2a	A	G	10: 127,955,559 (GRCm39)	T848A	possibly damaging	Het
Bud13	C	T	9: 46,199,350 (GRCm39)	A237V	probably benign	Het
Cbarp	CGCCTCTGCTGCCTCT	CGCCTCT	10: 79,968,067 (GRCm39)		probably benign	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccz1	C	T	5: 143,929,328 (GRCm39)	G367R	probably damaging	Het
Cep104	T	C	4: 154,065,681 (GRCm39)	V56A	possibly damaging	Het
Chd6	C	A	2: 160,798,998 (GRCm39)	R2362S	probably damaging	Het
Chd6	C	T	2: 160,798,999 (GRCm39)	R2362K	probably damaging	Het
Cmc1	T	C	9: 117,944,443 (GRCm39)	E25G	probably benign	Het
Cntnap5b	T	C	1: 100,374,619 (GRCm39)	S1123P	probably damaging	Het
Col4a3	T	A	1: 82,693,778 (GRCm39)	L66*	probably null	Het
Crmp1	A	G	5: 37,440,212 (GRCm39)	T329A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a16	A	G	5: 145,378,843 (GRCm39)	S393P	possibly damaging	Het
Cyp4f18	T	A	8: 72,749,975 (GRCm39)	I225F	probably damaging	Het
Ddhd2	A	G	8: 26,231,726 (GRCm39)	V432A	probably benign	Het
Ecpas	T	C	4: 58,853,131 (GRCm39)	I401M	probably damaging	Het
Foxq1	G	A	13: 31,743,314 (GRCm39)	A139T	probably damaging	Het
Gm10428	G	T	11: 62,644,169 (GRCm39)		probably benign	Het
Gpr89	A	G	3: 96,800,196 (GRCm39)	L134P	probably damaging	Het
Hjv	T	C	3: 96,435,938 (GRCm39)	S399P	probably benign	Het
Hrc	A	T	7: 44,986,025 (GRCm39)		probably null	Het
Igf1r	T	A	7: 67,857,001 (GRCm39)	Y988N	probably damaging	Het
Igf2r	A	C	17: 12,917,239 (GRCm39)		probably null	Het
Itga2b	A	G	11: 102,357,100 (GRCm39)	F260S	probably benign	Het
Kif2a	T	A	13: 107,098,672 (GRCm39)	N698I	probably benign	Het
Lap3	A	C	5: 45,662,147 (GRCm39)	I316L	probably benign	Het
Map2k6	T	G	11: 110,290,197 (GRCm39)		probably benign	Het
Mtrex	T	A	13: 113,054,196 (GRCm39)	I146F	probably damaging	Het
Myh1	A	G	11: 67,110,078 (GRCm39)	E1422G	probably damaging	Het
Ncoa6	A	G	2: 155,250,061 (GRCm39)	V1081A	probably benign	Het
Nom1	A	G	5: 29,642,639 (GRCm39)	E380G	probably damaging	Het
Nwd2	A	T	5: 63,882,573 (GRCm39)	Y75F	probably damaging	Het
Or3a1b	T	A	11: 74,012,335 (GRCm39)	D73E	probably damaging	Het
Or51a24	G	A	7: 103,733,376 (GRCm39)	R304W	probably benign	Het
Pkd1l1	A	G	11: 8,866,301 (GRCm39)	V518A	probably damaging	Het
Ptgs2	A	G	1: 149,981,279 (GRCm39)	M521V	probably benign	Het
Qsox1	T	A	1: 155,655,274 (GRCm39)	M630L	probably benign	Het
Spty2d1	A	G	7: 46,648,032 (GRCm39)	L299P	probably damaging	Het
St6gal1	T	G	16: 23,139,805 (GRCm39)		probably benign	Het
Sult2a6	T	C	7: 13,984,283 (GRCm39)	Y149C	probably damaging	Het
Tlr3	G	A	8: 45,855,808 (GRCm39)	T124M	probably benign	Het
Tmem171	A	G	13: 98,829,019 (GRCm39)	Y44H	probably damaging	Het
Usp35	C	T	7: 96,961,558 (GRCm39)	V623I	probably benign	Het
Vangl2	T	A	1: 171,833,694 (GRCm39)	H463L	probably damaging	Het
Vmn1r175	A	C	7: 23,507,905 (GRCm39)	L241V	probably benign	Het
Vmn1r19	A	T	6: 57,382,338 (GRCm39)	K297I	unknown	Het
Vmn2r23	C	A	6: 123,689,718 (GRCm39)	T198K	probably benign	Het
Vmn2r-ps69	T	A	7: 84,953,223 (GRCm39)		noncoding transcript	Het
Xirp2	A	G	2: 67,341,311 (GRCm39)	Y1184C	probably benign	Het
Ythdc1	A	G	5: 86,983,810 (GRCm39)		probably benign	Het
Zbtb39	C	T	10: 127,578,515 (GRCm39)	A363V	probably damaging	Het
Zmiz1	T	A	14: 25,651,728 (GRCm39)	I527K	possibly damaging	Het
Zmiz1	C	A	14: 25,651,730 (GRCm39)	P534T	probably damaging	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
R0689:Aldh1a3	UTSW	7	66,051,753 (GRCm39)	missense	probably benign	0.02
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
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'- TTTCCAGCTGCATCCCATGG -3'
(R):5'- AAACATTTGAGGTGAACGACTG -3'

Sequencing Primer
(F):5'- TCCCATGGGGACAGATCC -3'
(R):5'- TGAGGTGAACGACTGTATAAAACATC -3'

Posted On

2016-11-21