Mutagenetix > Incidental Mutations

Incidental Mutation 'R0742:Aldh3b2'

70745

Institutional Source

Beutler Lab

Gene Symbol

Aldh3b2

Ensembl Gene

ENSMUSG00000075296

Gene Name

aldehyde dehydrogenase 3 family, member B2

Synonyms

MMRRC Submission

038923-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3972328-3981645 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3981034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 428 (G428S)

Ref Sequence

ENSEMBL: ENSMUSP00000115356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143380]

AlphaFold

E9Q3E1

Predicted Effect

probably damaging
Transcript: ENSMUST00000143380
AA Change: G428S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115356
Gene: ENSMUSG00000075296
AA Change: G428S

Domain	Start	End	E-Value	Type
Pfam:Aldedh	6	441	1.2e-87	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	A	6: 58,678,326	D415E	probably benign	Het
Aff3	A	G	1: 38,627,108	W12R	probably damaging	Het
Arhgef10l	A	G	4: 140,536,845	L736P	probably damaging	Het
Baz2a	G	T	10: 128,113,666	E374*	probably null	Het
BC005561	G	A	5: 104,522,154	S1514N	probably benign	Het
Casd1	T	C	6: 4,635,888		probably null	Het
Cct2	A	T	10: 117,055,246		probably null	Het
Cdc42bpg	G	A	19: 6,318,575		probably null	Het
Copg2	T	C	6: 30,863,613		probably null	Het
Fbxw15	C	T	9: 109,555,556		probably null	Het
Fyb	A	G	15: 6,634,816	D460G	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lyz1	A	T	10: 117,289,117		probably null	Het
Mroh3	A	T	1: 136,190,980	I533N	probably damaging	Het
Otogl	A	G	10: 107,866,740	V684A	possibly damaging	Het
Pcdh15	A	G	10: 74,621,297	D1302G	probably damaging	Het
Plec	A	T	15: 76,172,783	I4183N	probably damaging	Het
Rpe	C	T	1: 66,715,141	T124I	probably benign	Het
Rufy4	T	C	1: 74,146,716	I514T	probably benign	Het
Scap	T	A	9: 110,381,259	L912Q	probably damaging	Het
Sec61a2	T	C	2: 5,876,548	D264G	probably benign	Het
Slc4a3	T	A	1: 75,556,081	I995K	probably damaging	Het
Sptbn2	T	C	19: 4,718,983	I48T	possibly damaging	Het
Steap3	C	T	1: 120,241,583	R328H	possibly damaging	Het
Tmprss13	T	C	9: 45,332,467	F167S	probably damaging	Het
Ttc3	G	A	16: 94,459,880	C1408Y	probably benign	Het
Twf1	A	G	15: 94,585,530	M99T	probably damaging	Het
Unc80	A	G	1: 66,527,893	N886S	possibly damaging	Het
Vmn2r12	T	A	5: 109,086,415	T644S	possibly damaging	Het
Vps13b	A	G	15: 35,794,361	S2306G	probably benign	Het
Xpo1	T	C	11: 23,294,682	V1020A	possibly damaging	Het
Ylpm1	T	A	12: 85,029,112	N870K	probably benign	Het

Other mutations in Aldh3b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02888:Aldh3b2	APN	19	3980083	missense	probably benign	0.32
R0242:Aldh3b2	UTSW	19	3979414	nonsense	probably null
R0242:Aldh3b2	UTSW	19	3979414	nonsense	probably null
R0924:Aldh3b2	UTSW	19	3979350	missense	probably benign	0.09
R1531:Aldh3b2	UTSW	19	3977543	missense	probably damaging	1.00
R1748:Aldh3b2	UTSW	19	3977572	missense	probably damaging	0.99
R1899:Aldh3b2	UTSW	19	3978662	missense	possibly damaging	0.55
R1968:Aldh3b2	UTSW	19	3980705	missense	probably benign	0.22
R2228:Aldh3b2	UTSW	19	3981133	missense	probably benign	0.00
R4282:Aldh3b2	UTSW	19	3977636	missense	probably benign	0.03
R4403:Aldh3b2	UTSW	19	3980059	missense	probably damaging	1.00
R4717:Aldh3b2	UTSW	19	3981128	missense	probably damaging	1.00
R4865:Aldh3b2	UTSW	19	3978469	missense	probably damaging	1.00
R5093:Aldh3b2	UTSW	19	3979433	missense	probably benign	0.00
R7035:Aldh3b2	UTSW	19	3978142	missense	probably benign	0.23
R7223:Aldh3b2	UTSW	19	3979592	missense	probably damaging	0.98
R8076:Aldh3b2	UTSW	19	3978859	missense	possibly damaging	0.60
R8101:Aldh3b2	UTSW	19	3978134	missense	probably benign	0.33
R8394:Aldh3b2	UTSW	19	3979461	missense	probably benign	0.07
R8701:Aldh3b2	UTSW	19	3978448	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTGAATCAGATGTTGGAACGCAC -3'
(R):5'- ACTTGGAAGCCGCTGAAAGCTC -3'

Sequencing Primer
(F):5'- AGGCAACGATGGCTTCCTC -3'
(R):5'- CCGCTGAAAGCTCAGGTAG -3'

Posted On

2013-09-30