Mutagenetix > Incidental Mutation

Incidental Mutation 'R5129:Aldh3b1'

394932

Institutional Source

Beutler Lab

Gene Symbol

Aldh3b1

Ensembl Gene

ENSMUSG00000024885

Gene Name

aldehyde dehydrogenase 3 family, member B1

Synonyms

1700001N19Rik, ALDH4, ALDH7

MMRRC Submission

042717-MU

Accession Numbers

Essential gene?

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

Stock #

R5129 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3963491-3979808 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3965336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 392 (F392L)

Ref Sequence

ENSEMBL: ENSMUSP00000056276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051803] [ENSMUST00000075092]

AlphaFold

Q80VQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000051803
AA Change: F392L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000056276
Gene: ENSMUSG00000024885
AA Change: F392L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075092

SMART Domains

Protein: ENSMUSP00000074600
Gene: ENSMUSG00000059734

Domain	Start	End	E-Value	Type
Pfam:Fer4_10	108	163	2.4e-9	PFAM
Pfam:Fer4	109	129	1.1e-6	PFAM
Pfam:Fer4_4	110	126	2e-5	PFAM
Pfam:Fer4_7	112	166	1e-13	PFAM
Pfam:Fer4_9	112	167	8.8e-10	PFAM
Pfam:Fer4	145	168	5.3e-10	PFAM
Pfam:Fer4_4	149	173	3.1e-3	PFAM
low complexity region	181	193	N/A	INTRINSIC

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (51/52)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,260,786 (GRCm39)		noncoding transcript	Het
Abcf1	C	T	17: 36,271,687 (GRCm39)		probably benign	Het
Adamts14	T	A	10: 61,085,397 (GRCm39)	D209V	probably benign	Het
Atp1a2	A	T	1: 172,103,522 (GRCm39)	D999E	probably benign	Het
Capn7	T	C	14: 31,066,468 (GRCm39)	V94A	probably damaging	Het
Cdh13	A	G	8: 119,821,954 (GRCm39)	D271G	probably damaging	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col6a4	T	C	9: 105,890,576 (GRCm39)	E1906G	probably damaging	Het
Daw1	T	C	1: 83,183,624 (GRCm39)	Y225H	probably damaging	Het
Dvl3	T	A	16: 20,336,090 (GRCm39)	M49K	possibly damaging	Het
Eef1b2	T	G	1: 63,218,739 (GRCm39)	S175A	probably damaging	Het
Epb41l1	A	T	2: 156,351,201 (GRCm39)	Y425F	possibly damaging	Het
Fam43b	A	T	4: 138,122,783 (GRCm39)	L179*	probably null	Het
Fbxw28	A	G	9: 109,155,671 (GRCm39)	L314P	probably damaging	Het
Fstl4	C	A	11: 53,077,266 (GRCm39)	D674E	probably damaging	Het
G3bp1	T	C	11: 55,379,942 (GRCm39)	V92A	possibly damaging	Het
Gm3604	A	T	13: 62,517,588 (GRCm39)	Y257N	probably benign	Het
Gm5900	A	G	7: 104,599,223 (GRCm39)		noncoding transcript	Het
Hectd4	G	A	5: 121,481,573 (GRCm39)	V3041M	possibly damaging	Het
Hivep2	A	G	10: 14,006,608 (GRCm39)	K1069E	probably damaging	Het
Hlf	T	C	11: 90,281,078 (GRCm39)	D38G	probably benign	Het
Hsd3b7	C	A	7: 127,400,306 (GRCm39)	C18*	probably null	Het
Kdm5a	T	C	6: 120,381,983 (GRCm39)	C676R	probably damaging	Het
Klhdc7b	A	G	15: 89,272,751 (GRCm39)	Y1211C	probably damaging	Het
Krt78	C	A	15: 101,856,015 (GRCm39)	V599L	possibly damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
Nbas	T	C	12: 13,440,961 (GRCm39)	L1097P	probably damaging	Het
Nf2	A	C	11: 4,766,145 (GRCm39)	D87E	probably benign	Het
Or10d4c	T	A	9: 39,558,790 (GRCm39)	I256N	probably benign	Het
Or14j2	T	C	17: 37,886,071 (GRCm39)	Y81C	probably damaging	Het
Ppil3	A	G	1: 58,479,992 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,379,154 (GRCm39)	E276G	unknown	Het
Semp2l1	C	A	1: 32,584,560 (GRCm39)	R450M	probably damaging	Het
Semp2l1	T	A	1: 32,584,561 (GRCm39)	R450W	probably damaging	Het
Spata16	A	G	3: 26,721,713 (GRCm39)	E78G	probably damaging	Het
Tlr3	A	T	8: 45,856,018 (GRCm39)	I54K	probably damaging	Het
Tmem72	A	G	6: 116,678,974 (GRCm39)	L34P	probably damaging	Het
Triobp	A	G	15: 78,845,296 (GRCm39)	R213G	probably benign	Het
Tyrp1	T	A	4: 80,764,844 (GRCm39)	V7D	probably damaging	Het
Uhrf2	A	G	19: 30,052,621 (GRCm39)	I372V	probably benign	Het
Uty	T	C	Y: 1,158,592 (GRCm39)	T484A	probably benign	Het
Vcan	T	C	13: 89,838,359 (GRCm39)	D2395G	probably damaging	Het
Vmn1r225	T	A	17: 20,723,378 (GRCm39)	I273N	probably damaging	Het
Zfp451	C	T	1: 33,842,014 (GRCm39)		probably benign	Het
Zfp457	T	C	13: 67,441,420 (GRCm39)	E385G	probably benign	Het
Zfp74	C	T	7: 29,631,880 (GRCm39)	M121I	probably benign	Het
Zfp866	A	T	8: 70,220,359 (GRCm39)		probably null	Het
Zfp874a	A	T	13: 67,591,100 (GRCm39)	C195S	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
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
R9024:Aldh3b1	UTSW	19	3,968,155 (GRCm39)	missense	probably damaging	1.00
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'- AAGTTCCACCACAGACTGTAGG -3'
(R):5'- TCCATAGAGAATATGCCCCAGG -3'

Sequencing Primer
(F):5'- GCAGGCTAGTTGGACAGTC -3'
(R):5'- AATATGCCCCAGGGTGGAGTTTG -3'

Posted On

2016-06-21