Mutagenetix > Incidental Mutations

Incidental Mutation 'R0924:Aldh3b2'

226097

Institutional Source

Beutler Lab

Gene Symbol

Aldh3b2

Ensembl Gene

ENSMUSG00000075296

Gene Name

aldehyde dehydrogenase 3 family, member B2

Synonyms

MMRRC Submission

039071-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0924 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3972328-3981645 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3979350 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 241 (V241A)

Ref Sequence

ENSEMBL: ENSMUSP00000115356 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143380
AA Change: V241A

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115356
Gene: ENSMUSG00000075296
AA Change: V241A

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

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,251,070		probably benign	Het
9530053A07Rik	A	T	7: 28,140,130	Y456F	probably damaging	Het
Adamts18	A	T	8: 113,705,396		probably null	Het
Ahcyl2	A	C	6: 29,870,628		probably null	Het
Ajap1	T	A	4: 153,386,472	I293F	probably damaging	Het
Akap10	T	C	11: 61,904,863		probably benign	Het
Anxa6	A	T	11: 54,994,388		probably null	Het
Atpaf1	T	A	4: 115,795,438	V12D	probably damaging	Het
Aurkb	C	A	11: 69,045,996	Y12*	probably null	Het
Bicdl1	A	G	5: 115,661,528		probably benign	Het
Bnc1	A	T	7: 81,978,408		probably benign	Het
Bpi	A	G	2: 158,261,426	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,675,896	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,365,862	N1045D	possibly damaging	Het
Ccrl2	A	G	9: 111,055,968	V154A	probably benign	Het
Celsr3	C	A	9: 108,846,025	Q2831K	possibly damaging	Het
Cul3	A	T	1: 80,290,118	M102K	probably damaging	Het
Cwf19l2	T	C	9: 3,441,047		probably benign	Het
Dlg5	G	A	14: 24,135,577	P1920L	probably damaging	Het
Dnah2	T	C	11: 69,421,308	H4393R	probably damaging	Het
Eif2b3	T	A	4: 117,081,578	V408D	possibly damaging	Het
Eml3	T	C	19: 8,933,311		probably null	Het
Enpp2	T	C	15: 54,906,959		probably benign	Het
Gm14178	T	A	11: 99,747,500	T18S		Het
H2-Bl	A	T	17: 36,083,932	V33E	probably damaging	Het
H2-M11	A	G	17: 36,549,214	M324V	probably benign	Het
Hdac10	T	C	15: 89,125,862	T298A	probably benign	Het
Hepacam	A	C	9: 37,383,928		probably benign	Het
Hist1h2bk	G	A	13: 22,036,040	D52N	probably damaging	Het
Hmx3	A	T	7: 131,543,084	H41L	probably benign	Het
Ifi27l2a	A	G	12: 103,442,380	V68A	probably damaging	Het
Itga11	A	G	9: 62,776,674	E1079G	probably benign	Het
Krt6a	T	C	15: 101,690,800		probably benign	Het
L1td1	A	G	4: 98,737,625	N686D	probably damaging	Het
Lrrtm2	G	A	18: 35,213,755	R165C	probably damaging	Het
Macf1	G	T	4: 123,385,478	A3910E	probably damaging	Het
Muc5ac	A	T	7: 141,807,515	Y1521F	possibly damaging	Het
Myo7a	A	T	7: 98,098,256	I129N	probably damaging	Het
Ncam1	A	T	9: 49,562,176		probably benign	Het
Nckap1	A	T	2: 80,554,249	C114S	probably benign	Het
Nf1	T	G	11: 79,453,866	W1260G	probably damaging	Het
Olfr1415	A	G	1: 92,491,405	S117P	possibly damaging	Het
Olfr411	T	C	11: 74,346,798	Y262C	probably damaging	Het
Olfr813	A	T	10: 129,856,646	I43F	probably damaging	Het
Oxtr	A	T	6: 112,489,637		probably null	Het
Pabpc4	C	T	4: 123,294,665	R356C	possibly damaging	Het
Pcbp2	T	A	15: 102,489,762	D182E	probably damaging	Het
Pgm1	A	T	5: 64,112,147	I526F	possibly damaging	Het
Rab43	A	T	6: 87,792,770	Y151*	probably null	Het
Rbm19	A	G	5: 120,126,204	E343G	probably benign	Het
Rel	A	T	11: 23,742,439	D531E	probably benign	Het
Rfx4	T	A	10: 84,868,427	V262E	probably damaging	Het
Rnf31	T	C	14: 55,593,002		probably benign	Het
Robo3	T	A	9: 37,429,482		probably benign	Het
Ryr3	A	G	2: 112,841,833	L1431P	probably damaging	Het
Sema3d	A	C	5: 12,463,216	D51A	possibly damaging	Het
Sema6a	A	G	18: 47,248,492	L996P	probably damaging	Het
Sh2d4a	T	A	8: 68,335,123	F294I	probably damaging	Het
Sorl1	T	A	9: 42,008,174		probably benign	Het
Sox1ot	G	T	8: 12,430,455		noncoding transcript	Het
Spsb3	A	T	17: 24,891,384	N395I	probably damaging	Het
Sptan1	A	G	2: 30,016,028	N1662S	probably damaging	Het
Srd5a2	G	T	17: 74,024,521	N160K	probably damaging	Het
Tmem132d	G	A	5: 127,984,439		probably benign	Het
Tmem173	A	G	18: 35,735,101		probably null	Het
Unc80	A	T	1: 66,510,641	Q686L	possibly damaging	Het
Vmn2r93	A	G	17: 18,304,181	T146A	probably benign	Het
Wdr19	A	G	5: 65,256,439		probably benign	Het
Zfp646	C	T	7: 127,883,810	Q1500*	probably null	Het
Zfp683	T	C	4: 134,055,827	Y201H	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
R0742:Aldh3b2	UTSW	19	3981034	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- AAGGTAATGCTAGTTGACCAGGTGC -3'
(R):5'- TCAGTATGAAGGGTCTCAGCCCAG -3'

Sequencing Primer
(F):5'- CCTCTTGACCATGTTCTCAGGAAG -3'
(R):5'- AATCCCTGGAGCCTCTTGAAATG -3'

Posted On

2014-09-11