Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02888:Aldh3b2'

363052

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh3b2

Ensembl Gene

ENSMUSG00000075296

Gene Name

aldehyde dehydrogenase 3 family, member B2

Synonyms

C130048D07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02888

Quality Score

Status

Chromosome

Chromosomal Location

4022328-4031646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4030083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 356 (V356M)

Ref Sequence

ENSEMBL: ENSMUSP00000115356 (fasta)

Gene Model

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

AlphaFold

E9Q3E1

Predicted Effect

probably benign
Transcript: ENSMUST00000143380
AA Change: V356M

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115356
Gene: ENSMUSG00000075296
AA Change: V356M

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,104,610 (GRCm39)	H345R	probably damaging	Het
Afap1l1	T	A	18: 61,881,879 (GRCm39)	Y272F	probably damaging	Het
AI661453	C	A	17: 47,778,329 (GRCm39)		probably benign	Het
Ajap1	T	G	4: 153,516,718 (GRCm39)	I208L	probably benign	Het
Angptl7	T	A	4: 148,580,788 (GRCm39)		probably benign	Het
Atp2a3	G	A	11: 72,867,954 (GRCm39)		probably benign	Het
Birc2	T	C	9: 7,819,559 (GRCm39)	D451G	probably benign	Het
Brpf3	G	A	17: 29,047,365 (GRCm39)	R1043H	probably damaging	Het
Cd177	A	G	7: 24,457,862 (GRCm39)	L132P	probably damaging	Het
Chsy3	A	G	18: 59,543,067 (GRCm39)	D735G	probably benign	Het
Cldn8	A	T	16: 88,359,271 (GRCm39)	I218K	probably benign	Het
Cltc	T	C	11: 86,648,123 (GRCm39)		probably benign	Het
Col22a1	T	C	15: 71,718,068 (GRCm39)	H619R	unknown	Het
Crxos	G	A	7: 15,636,855 (GRCm39)	E143K	possibly damaging	Het
Dcp1b	A	G	6: 119,197,048 (GRCm39)		probably benign	Het
Ddc	A	G	11: 11,772,297 (GRCm39)		probably benign	Het
Dnajc13	A	T	9: 104,057,261 (GRCm39)		probably benign	Het
Dnajc27	C	T	12: 4,139,186 (GRCm39)	H75Y	possibly damaging	Het
Fgd3	C	T	13: 49,435,292 (GRCm39)		probably null	Het
Gcc2	A	G	10: 58,130,650 (GRCm39)	D1414G	probably damaging	Het
Gtf3c2	G	A	5: 31,331,169 (GRCm39)	P169L	probably damaging	Het
Ighv1-76	T	A	12: 115,811,566 (GRCm39)	S96C	probably damaging	Het
Lmbrd1	T	A	1: 24,754,053 (GRCm39)	I206K	possibly damaging	Het
Lypd5	A	G	7: 24,052,044 (GRCm39)	S120G	probably damaging	Het
Mgat4b	T	A	11: 50,123,159 (GRCm39)	Y249N	probably damaging	Het
Msh4	A	T	3: 153,602,550 (GRCm39)	L32*	probably null	Het
Muc4	A	G	16: 32,575,656 (GRCm39)		probably benign	Het
Myo6	A	G	9: 80,177,013 (GRCm39)		probably benign	Het
Nenf	T	C	1: 191,042,118 (GRCm39)	T113A	probably benign	Het
Nup85	A	G	11: 115,469,626 (GRCm39)	D75G	possibly damaging	Het
Nutm1	A	T	2: 112,080,980 (GRCm39)	L438Q	probably damaging	Het
Oas1h	A	T	5: 120,999,610 (GRCm39)	I32F	probably benign	Het
Oasl1	G	A	5: 115,075,241 (GRCm39)	V434M	probably damaging	Het
Or2a5	A	G	6: 42,874,263 (GRCm39)	N293D	probably damaging	Het
Or9s27	T	C	1: 92,516,925 (GRCm39)	L291P	probably damaging	Het
Pde2a	C	A	7: 101,154,276 (GRCm39)	H549Q	probably damaging	Het
Phkb	G	T	8: 86,662,101 (GRCm39)		probably null	Het
Pigm	T	C	1: 172,205,214 (GRCm39)	C317R	probably damaging	Het
Ppl	A	T	16: 4,918,271 (GRCm39)	S470R	possibly damaging	Het
Pramel14	G	A	4: 143,720,669 (GRCm39)	R91W	probably benign	Het
Slc13a4	A	T	6: 35,245,775 (GRCm39)	D623E	probably benign	Het
Stx11	A	G	10: 12,817,359 (GRCm39)	S122P	possibly damaging	Het
Sytl3	A	G	17: 7,000,483 (GRCm39)	T218A	probably benign	Het
Tango6	A	G	8: 107,447,297 (GRCm39)	D565G	probably damaging	Het
Tex14	T	C	11: 87,418,738 (GRCm39)		probably null	Het
Tinag	T	C	9: 76,938,995 (GRCm39)	D161G	probably benign	Het
Vcpip1	T	C	1: 9,795,011 (GRCm39)	D1120G	probably damaging	Het
Zfp446	G	A	7: 12,713,255 (GRCm39)	A98T	probably damaging	Het

Other mutations in Aldh3b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0242:Aldh3b2	UTSW	19	4,029,414 (GRCm39)	nonsense	probably null
R0242:Aldh3b2	UTSW	19	4,029,414 (GRCm39)	nonsense	probably null
R0742:Aldh3b2	UTSW	19	4,031,034 (GRCm39)	missense	probably damaging	1.00
R0924:Aldh3b2	UTSW	19	4,029,350 (GRCm39)	missense	probably benign	0.09
R1531:Aldh3b2	UTSW	19	4,027,543 (GRCm39)	missense	probably damaging	1.00
R1748:Aldh3b2	UTSW	19	4,027,572 (GRCm39)	missense	probably damaging	0.99
R1899:Aldh3b2	UTSW	19	4,028,662 (GRCm39)	missense	possibly damaging	0.55
R1968:Aldh3b2	UTSW	19	4,030,705 (GRCm39)	missense	probably benign	0.22
R2228:Aldh3b2	UTSW	19	4,031,133 (GRCm39)	missense	probably benign	0.00
R4282:Aldh3b2	UTSW	19	4,027,636 (GRCm39)	missense	probably benign	0.03
R4403:Aldh3b2	UTSW	19	4,030,059 (GRCm39)	missense	probably damaging	1.00
R4717:Aldh3b2	UTSW	19	4,031,128 (GRCm39)	missense	probably damaging	1.00
R4865:Aldh3b2	UTSW	19	4,028,469 (GRCm39)	missense	probably damaging	1.00
R5093:Aldh3b2	UTSW	19	4,029,433 (GRCm39)	missense	probably benign	0.00
R7035:Aldh3b2	UTSW	19	4,028,142 (GRCm39)	missense	probably benign	0.23
R7223:Aldh3b2	UTSW	19	4,029,592 (GRCm39)	missense	probably damaging	0.98
R8076:Aldh3b2	UTSW	19	4,028,859 (GRCm39)	missense	possibly damaging	0.60
R8101:Aldh3b2	UTSW	19	4,028,134 (GRCm39)	missense	probably benign	0.33
R8394:Aldh3b2	UTSW	19	4,029,461 (GRCm39)	missense	probably benign	0.07
R8701:Aldh3b2	UTSW	19	4,028,448 (GRCm39)	missense	probably damaging	1.00
R9622:Aldh3b2	UTSW	19	4,029,489 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18