Mutagenetix > Incidental Mutations

Incidental Mutation 'R4403:Aldh3b2'

326742

Institutional Source

Beutler Lab

Gene Symbol

Aldh3b2

Ensembl Gene

ENSMUSG00000075296

Gene Name

aldehyde dehydrogenase 3 family, member B2

Synonyms

MMRRC Submission

041687-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4403 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3972328-3981645 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3980059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 348 (I348F)

Ref Sequence

ENSEMBL: ENSMUSP00000115356 (fasta)

Gene Model

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

AlphaFold

E9Q3E1

Predicted Effect

probably damaging
Transcript: ENSMUST00000143380
AA Change: I348F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115356
Gene: ENSMUSG00000075296
AA Change: I348F

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

Meta Mutation Damage Score

0.7689

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,267,436	Y2037C	probably damaging	Het
Adam33	T	C	2: 131,053,270	T647A	probably benign	Het
Adamts9	C	T	6: 92,859,864	A636T	probably damaging	Het
Ap3b1	C	A	13: 94,418,099	L248I	probably damaging	Het
Btbd9	A	G	17: 30,485,932		probably benign	Het
C2cd3	A	G	7: 100,432,099	R1361G	probably damaging	Het
Cage1	T	A	13: 38,023,102	I256F	probably damaging	Het
Calcr	A	T	6: 3,708,484		probably null	Het
Cbr2	T	A	11: 120,730,802	N83I	probably damaging	Het
Crb1	T	C	1: 139,248,379	N561S	probably benign	Het
Dpp6	T	A	5: 27,718,462	L690Q	probably damaging	Het
Eef1d	C	T	15: 75,902,920	V213I	probably benign	Het
Enthd1	A	G	15: 80,452,824	S470P	probably benign	Het
Fat3	T	C	9: 15,944,873	Y3871C	probably damaging	Het
Fras1	C	A	5: 96,642,620	T951K	probably damaging	Het
Gosr1	T	C	11: 76,754,735	E73G	possibly damaging	Het
Il11	T	C	7: 4,775,996	Y45C	probably damaging	Het
Kcnk15	A	G	2: 163,858,618	N259S	probably damaging	Het
Kdm5d	G	T	Y: 899,830	R132L	probably damaging	Het
Med21	C	T	6: 146,649,182	R64*	probably null	Het
Mgea5	A	T	19: 45,778,639	D99E	probably damaging	Het
Muc19	A	T	15: 91,871,570		noncoding transcript	Het
Nlrp4e	T	A	7: 23,321,463	C458*	probably null	Het
Obscn	T	C	11: 59,069,093	Q3525R	possibly damaging	Het
Phf3	A	G	1: 30,804,409	L1823S	probably damaging	Het
Pla2g1b	T	A	5: 115,470,888	Y47*	probably null	Het
Prmt3	T	A	7: 49,780,357	H69Q	probably damaging	Het
Rcor3	T	C	1: 192,119,912		probably null	Het
Rhoa	T	A	9: 108,336,814	I192N	probably benign	Het
Sbf1	T	C	15: 89,293,954	I1532V	possibly damaging	Het
Scn11a	T	C	9: 119,795,667	T530A	probably damaging	Het
Slc26a6	T	C	9: 108,855,938	F39L	probably benign	Het
Tfpi	A	T	2: 84,444,862	M134K	probably damaging	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
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
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'- GCTTTAGACTCACTGAGCTGG -3'
(R):5'- TGGATGTGACCAGTCTGTCC -3'

Sequencing Primer
(F):5'- TTCCATTGTCCCAGGAGGTCAG -3'
(R):5'- ATGTGACCAGTCTGTCCCCTTTTC -3'

Posted On

2015-07-07