Mutagenetix > Incidental Mutation

Incidental Mutation 'R9024:Aldh3b1'

686449

Institutional Source

Beutler Lab

Gene Symbol

Aldh3b1

Ensembl Gene

ENSMUSG00000024885

Gene Name

aldehyde dehydrogenase 3 family, member B1

Synonyms

1700001N19Rik, ALDH4, ALDH7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R9024 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3963491-3979808 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3968155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 335 (I335F)

Ref Sequence

ENSEMBL: ENSMUSP00000056276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051803]

AlphaFold

Q80VQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000051803
AA Change: I335F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000056276
Gene: ENSMUSG00000024885
AA Change: I335F

Domain	Start	End	E-Value	Type
Pfam:Aldedh	2	428	7.4e-88	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	A	3: 137,891,923 (GRCm39)	A16S	unknown	Het
Asph	A	T	4: 9,475,025 (GRCm39)	Y650N	probably damaging	Het
Atr	T	C	9: 95,789,416 (GRCm39)	V1524A	possibly damaging	Het
Ccin	A	G	4: 43,983,562 (GRCm39)		probably benign	Het
Cdk15	A	T	1: 59,326,957 (GRCm39)	I213F	probably damaging	Het
Chfr	G	T	5: 110,306,698 (GRCm39)	S481I	probably benign	Het
Coro2a	T	C	4: 46,542,323 (GRCm39)	D350G	probably benign	Het
Ctps1	C	A	4: 120,406,707 (GRCm39)	E350*	probably null	Het
Dctn4	G	A	18: 60,678,894 (GRCm39)		probably null	Het
Epha4	C	A	1: 77,365,169 (GRCm39)	R610L	possibly damaging	Het
Esp4	A	T	17: 40,911,102 (GRCm39)	M1L	unknown	Het
Fads3	T	C	19: 10,033,839 (GRCm39)	V408A	probably damaging	Het
Gm19402	T	A	10: 77,525,805 (GRCm39)	K263*	probably null	Het
Gm26657	G	T	4: 56,740,769 (GRCm39)		probably benign	Het
Hsdl1	A	G	8: 120,290,839 (GRCm39)	V311A	probably benign	Het
Hsp90b1	A	G	10: 86,541,174 (GRCm39)	F16L	possibly damaging	Het
Icmt	T	C	4: 152,385,161 (GRCm39)	C208R	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ipo7	T	A	7: 109,643,943 (GRCm39)		probably null	Het
Kif21a	T	A	15: 90,821,399 (GRCm39)	K1465*	probably null	Het
Klhl9	A	T	4: 88,639,999 (GRCm39)	F81I	probably damaging	Het
Kynu	A	G	2: 43,490,807 (GRCm39)	H170R	possibly damaging	Het
Mmp12	A	G	9: 7,355,444 (GRCm39)	Y397C	probably damaging	Het
Mpped2	T	C	2: 106,614,043 (GRCm39)	F126L	probably benign	Het
Muc2	C	T	7: 141,287,936 (GRCm39)	P236S	probably damaging	Het
Myo10	A	G	15: 25,793,295 (GRCm39)	T1291A	possibly damaging	Het
Myom2	T	C	8: 15,113,936 (GRCm39)	L28P	probably damaging	Het
Nfatc2	T	C	2: 168,328,648 (GRCm39)	*924W	probably null	Het
Nrip1	G	T	16: 76,088,388 (GRCm39)	Y1056*	probably null	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Oxr1	A	G	15: 41,694,518 (GRCm39)	Y20C	probably damaging	Het
P2ry2	T	C	7: 100,647,229 (GRCm39)	T359A	probably damaging	Het
Paxbp1	G	A	16: 90,840,963 (GRCm39)	R94C	possibly damaging	Het
Pbrm1	A	G	14: 30,783,623 (GRCm39)	Y569C	probably damaging	Het
Pkhd1	T	C	1: 20,592,975 (GRCm39)	T1713A	probably benign	Het
Plekha5	A	G	6: 140,370,176 (GRCm39)	S56G	probably benign	Het
Plekhg5	T	C	4: 152,197,118 (GRCm39)	I801T	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pogz	A	T	3: 94,785,543 (GRCm39)	N833Y	probably damaging	Het
Polk	G	T	13: 96,623,340 (GRCm39)	H501N	probably benign	Het
Ptprd	T	C	4: 75,874,567 (GRCm39)	N1043S	probably damaging	Het
Rad18	A	T	6: 112,626,562 (GRCm39)	C448S	probably benign	Het
Rhof	T	A	5: 123,269,963 (GRCm39)	K65*	probably null	Het
Rpa2	T	C	4: 132,499,153 (GRCm39)	V74A	probably damaging	Het
Smarcc1	T	C	9: 110,015,001 (GRCm39)	M522T	probably damaging	Het
Snai2	T	C	16: 14,524,769 (GRCm39)	S92P	probably benign	Het
Srrt	C	A	5: 137,301,291 (GRCm39)	R45L	unknown	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tubd1	T	G	11: 86,445,991 (GRCm39)	H210Q	possibly damaging	Het
Usp36	T	C	11: 118,166,983 (GRCm39)	N298S	possibly damaging	Het
Vmn2r63	T	G	7: 42,577,874 (GRCm39)	R221S	probably benign	Het
Vps13b	A	G	15: 35,923,470 (GRCm39)	I3782V	probably damaging	Het
Zfp184	T	A	13: 22,143,128 (GRCm39)	I278N	probably damaging	Het

Other mutations in Aldh3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Aldh3b1	APN	19	3,968,104 (GRCm39)	missense	probably benign	0.03
IGL01402:Aldh3b1	APN	19	3,971,205 (GRCm39)	missense	probably benign	0.01
IGL01404:Aldh3b1	APN	19	3,971,205 (GRCm39)	missense	probably benign	0.01
IGL01784:Aldh3b1	APN	19	3,971,217 (GRCm39)	missense	probably benign	0.32
IGL02608:Aldh3b1	APN	19	3,964,061 (GRCm39)	missense	probably damaging	1.00
IGL03223:Aldh3b1	APN	19	3,965,329 (GRCm39)	missense	probably damaging	0.98
R0320:Aldh3b1	UTSW	19	3,968,999 (GRCm39)	splice site	probably benign
R0472:Aldh3b1	UTSW	19	3,964,024 (GRCm39)	missense	probably damaging	1.00
R0609:Aldh3b1	UTSW	19	3,964,024 (GRCm39)	missense	probably damaging	1.00
R1272:Aldh3b1	UTSW	19	3,971,746 (GRCm39)	missense	probably damaging	1.00
R1721:Aldh3b1	UTSW	19	3,971,271 (GRCm39)	splice site	probably benign
R1769:Aldh3b1	UTSW	19	3,968,740 (GRCm39)	missense	probably damaging	1.00
R1868:Aldh3b1	UTSW	19	3,971,271 (GRCm39)	splice site	probably benign
R1911:Aldh3b1	UTSW	19	3,971,187 (GRCm39)	missense	probably damaging	0.99
R1912:Aldh3b1	UTSW	19	3,971,187 (GRCm39)	missense	probably damaging	0.99
R2067:Aldh3b1	UTSW	19	3,971,755 (GRCm39)	missense	probably benign	0.01
R2913:Aldh3b1	UTSW	19	3,971,275 (GRCm39)	splice site	probably benign
R4133:Aldh3b1	UTSW	19	3,970,808 (GRCm39)	missense	probably damaging	1.00
R5129:Aldh3b1	UTSW	19	3,965,336 (GRCm39)	missense	probably benign	0.01
R7764:Aldh3b1	UTSW	19	3,971,563 (GRCm39)	nonsense	probably null
R8832:Aldh3b1	UTSW	19	3,964,025 (GRCm39)	missense	probably damaging	1.00
R8876:Aldh3b1	UTSW	19	3,971,502 (GRCm39)	missense	probably damaging	1.00
R8931:Aldh3b1	UTSW	19	3,968,803 (GRCm39)	missense	possibly damaging	0.86
R9111:Aldh3b1	UTSW	19	3,971,797 (GRCm39)	missense	probably damaging	1.00
R9253:Aldh3b1	UTSW	19	3,965,315 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTAAGGCCCTGTAACTAC -3'
(R):5'- GTTGTTCTGTGAGACTGCAGAC -3'

Sequencing Primer
(F):5'- GGCCCTGTAACTACCCATAGG -3'
(R):5'- TGTGAGACTGCAGACCCCAAG -3'

Posted On

2021-10-11