Mutagenetix > Incidental Mutation

Incidental Mutation 'R5138:Aldh1a3'

396284

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

042724-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.614) question?

Stock #

R5138 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66040640-66077225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66057600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 278 (T278A)

Ref Sequence

ENSEMBL: ENSMUSP00000015278 (fasta)

Gene Model

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

AlphaFold

Q9JHW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000015278
AA Change: T278A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015278
Gene: ENSMUSG00000015134
AA Change: T278A

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: ENSMUST00000174209

Predicted Effect

probably benign
Transcript: ENSMUST00000174215

Predicted Effect

unknown
Transcript: ENSMUST00000174701
AA Change: T169A

SMART Domains

Protein: ENSMUSP00000133370
Gene: ENSMUSG00000015134
AA Change: T169A

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

0.6817

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	A	9: 46,218,119 (GRCm39)		probably null	Het
Actr10	G	A	12: 71,008,653 (GRCm39)	G362E	probably damaging	Het
Arpp21	T	A	9: 112,008,152 (GRCm39)	K116M	probably damaging	Het
Arrdc3	T	C	13: 81,039,184 (GRCm39)	Y72H	probably damaging	Het
Atr	T	C	9: 95,819,649 (GRCm39)	V2212A	probably benign	Het
Bcdin3d	A	G	15: 99,368,932 (GRCm39)	F89S	possibly damaging	Het
Cacna1d	C	A	14: 30,212,929 (GRCm39)	A44S	probably benign	Het
Cbx3	A	G	6: 51,452,269 (GRCm39)	E28G	probably damaging	Het
Cdh23	A	T	10: 60,148,061 (GRCm39)	F2722L	probably damaging	Het
Clec11a	A	G	7: 43,954,062 (GRCm39)	V297A	probably benign	Het
Clk2	C	A	3: 89,082,806 (GRCm39)		probably benign	Het
Clybl	T	A	14: 122,608,716 (GRCm39)	C103S	possibly damaging	Het
Col12a1	T	A	9: 79,551,248 (GRCm39)	N2123Y	probably damaging	Het
Corin	G	A	5: 72,496,402 (GRCm39)	P517L	probably damaging	Het
Ddhd2	A	T	8: 26,217,726 (GRCm39)	I717N	probably damaging	Het
Derl2	C	A	11: 70,905,390 (GRCm39)	G31*	probably null	Het
Dgcr8	A	G	16: 18,095,941 (GRCm39)	V523A	probably damaging	Het
Dnah8	T	C	17: 30,984,571 (GRCm39)	S3090P	probably damaging	Het
Dsp	C	A	13: 38,367,274 (GRCm39)	H641N	probably benign	Het
Dsp	A	T	13: 38,379,821 (GRCm39)	T1590S	possibly damaging	Het
Duox2	A	T	2: 122,128,012 (GRCm39)	L57Q	probably damaging	Het
Etfdh	A	T	3: 79,530,880 (GRCm39)	V47D	probably benign	Het
Exoc1	T	C	5: 76,715,922 (GRCm39)	Y823H	probably damaging	Het
Fam81a	C	T	9: 70,006,457 (GRCm39)	R185K	probably benign	Het
Fsip2	A	G	2: 82,811,768 (GRCm39)	I2696V	probably benign	Het
Glis1	GCACACA	GCACA	4: 107,480,302 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,246,664 (GRCm39)	N1548K	probably benign	Het
H3c2	G	A	13: 23,936,613 (GRCm39)	R84H	probably damaging	Het
Hkdc1	A	T	10: 62,234,470 (GRCm39)	I575N	probably damaging	Het
Ifi208	A	G	1: 173,518,239 (GRCm39)	I449V	probably null	Het
Ino80	T	C	2: 119,213,902 (GRCm39)	T1223A	probably damaging	Het
Kctd9	T	C	14: 67,966,197 (GRCm39)		probably null	Het
Khdrbs1	A	G	4: 129,635,647 (GRCm39)	Y103H	probably benign	Het
Kmt2e	A	G	5: 23,707,693 (GRCm39)	H1752R	probably damaging	Het
Lrp5	T	A	19: 3,678,319 (GRCm39)	Q512L	probably benign	Het
Map2k5	T	C	9: 63,170,440 (GRCm39)	T293A	probably damaging	Het
Myo7a	C	A	7: 97,732,806 (GRCm39)	R657L	probably damaging	Het
Myrfl	A	G	10: 116,631,963 (GRCm39)		probably null	Het
Nfatc2	G	A	2: 168,378,229 (GRCm39)	H258Y	probably damaging	Het
Nup205	T	A	6: 35,202,801 (GRCm39)	L1336Q	probably damaging	Het
Or10z1	A	G	1: 174,078,395 (GRCm39)	S33P	probably damaging	Het
Or4c113	T	C	2: 88,885,291 (GRCm39)	I160V	probably benign	Het
Or5an10	T	C	19: 12,276,140 (GRCm39)	M119V	possibly damaging	Het
Otog	T	A	7: 45,899,430 (GRCm39)	S244T	possibly damaging	Het
Pcdh17	T	G	14: 84,684,649 (GRCm39)	I372S	probably damaging	Het
Pira13	A	T	7: 3,827,556 (GRCm39)	Y200*	probably null	Het
Plagl1	A	G	10: 13,003,919 (GRCm39)		probably benign	Het
Pnpla7	T	C	2: 24,931,115 (GRCm39)	F910S	possibly damaging	Het
Prdm13	G	A	4: 21,679,507 (GRCm39)	P328S	unknown	Het
Prdm5	C	T	6: 65,833,086 (GRCm39)	Q152*	probably null	Het
Psat1	A	G	19: 15,892,312 (GRCm39)	F216S	possibly damaging	Het
Psg21	A	T	7: 18,390,453 (GRCm39)	M1K	probably null	Het
Rab11fip3	A	T	17: 26,210,000 (GRCm39)	S994T	probably benign	Het
Rax	A	G	18: 66,071,389 (GRCm39)		probably benign	Het
Rgs22	A	T	15: 36,099,934 (GRCm39)	S260R	probably benign	Het
Ryr2	A	T	13: 11,675,175 (GRCm39)	H3317Q	probably damaging	Het
Sc5d	A	G	9: 42,166,811 (GRCm39)	Y243H	probably damaging	Het
Serpinf1	T	C	11: 75,305,854 (GRCm39)	E178G	probably damaging	Het
Slc15a3	A	T	19: 10,833,369 (GRCm39)	Y462F	probably damaging	Het
Slc9b1	G	A	3: 135,063,534 (GRCm39)		probably benign	Het
Slit2	C	T	5: 48,439,309 (GRCm39)	P1111S	probably damaging	Het
Slit3	T	C	11: 35,479,812 (GRCm39)	Y330H	probably damaging	Het
Snw1	T	C	12: 87,507,205 (GRCm39)	K204E	probably benign	Het
Steap1	A	G	5: 5,786,486 (GRCm39)	I317T	probably damaging	Het
Sval2	A	G	6: 41,838,879 (GRCm39)	N20S	probably damaging	Het
Tfrc	C	A	16: 32,434,027 (GRCm39)	Y85*	probably null	Het
Tmem87a	T	C	2: 120,202,026 (GRCm39)	T412A	possibly damaging	Het
Utp20	T	C	10: 88,583,239 (GRCm39)	K2705E	probably damaging	Het
Vmn1r230	A	T	17: 21,067,230 (GRCm39)	K140*	probably null	Het
Vmn2r62	A	T	7: 42,414,240 (GRCm39)	H734Q	possibly damaging	Het
Zbtb8os	T	A	4: 129,240,719 (GRCm39)		probably benign	Het
Zfp608	A	T	18: 55,024,871 (GRCm39)	H1466Q	probably damaging	Het
Zfp957	C	T	14: 79,450,362 (GRCm39)	C479Y	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
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'- AACTTAGCCTTCAGGTGCAGAC -3'
(R):5'- TATGATGCATCATGCCTGGG -3'

Sequencing Primer
(F):5'- GCACAGCTCAGCAATGTTCTG -3'
(R):5'- ATCATGCCTGGGGTGCATC -3'

Posted On

2016-06-21