Mutagenetix > Incidental Mutation

Incidental Mutation 'R4994:Aldh1b1'

385082

Institutional Source

Beutler Lab

Gene Symbol

Aldh1b1

Ensembl Gene

ENSMUSG00000035561

Gene Name

aldehyde dehydrogenase 1 family, member B1

Synonyms

2700007F14Rik

MMRRC Submission

042588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4994 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

45799022-45804604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45803128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 222 (Y222C)

Ref Sequence

ENSEMBL: ENSMUSP00000041260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044384] [ENSMUST00000172750]

AlphaFold

Q9CZS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044384
AA Change: Y222C

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041260
Gene: ENSMUSG00000035561
AA Change: Y222C

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Aldedh	47	510	1.5e-185	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172750

SMART Domains

Protein: ENSMUSP00000134082
Gene: ENSMUSG00000035561

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Aldedh	47	132	1.4e-23	PFAM

Meta Mutation Damage Score

0.5335

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased fasting circulating glucose levels and decreased blood acetaldehyde clearance. Mice homozygous for a different knock-out allele display defects in beta cell development and functionality, and develop glucose intolerance, age-dependent hyperglycemia, and insulin resistance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,962 (GRCm39)	E364G	probably benign	Het
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcb4	A	G	5: 8,978,524 (GRCm39)	T557A	probably damaging	Het
Acadm	C	T	3: 153,635,221 (GRCm39)	E298K	probably damaging	Het
Adrb3	T	C	8: 27,717,855 (GRCm39)		probably null	Het
Ankrd6	A	G	4: 32,860,387 (GRCm39)	Y19H	probably damaging	Het
Arhgap21	T	A	2: 20,854,701 (GRCm39)	T1554S	probably benign	Het
BC043934	T	C	9: 96,319,173 (GRCm39)		noncoding transcript	Het
Birc6	A	G	17: 74,901,319 (GRCm39)		probably benign	Het
Blm	A	C	7: 80,108,573 (GRCm39)	F1357C	probably benign	Het
Cd209a	T	C	8: 3,797,713 (GRCm39)		probably null	Het
Cdk7	G	A	13: 100,854,103 (GRCm39)	H129Y	probably damaging	Het
Clec14a	G	T	12: 58,315,070 (GRCm39)	P184Q	probably damaging	Het
Cma1	T	A	14: 56,179,128 (GRCm39)	I243F	probably damaging	Het
Cntnap3	G	T	13: 64,909,798 (GRCm39)	T769K	possibly damaging	Het
Col5a1	A	C	2: 27,922,751 (GRCm39)	K273T	possibly damaging	Het
Csnk1e	A	G	15: 79,309,129 (GRCm39)	Y266H	probably damaging	Het
Cyb5d1	A	G	11: 69,284,597 (GRCm39)	L185S	probably damaging	Het
Dennd5b	T	C	6: 148,942,998 (GRCm39)		probably null	Het
Dipk2a	C	A	9: 94,419,486 (GRCm39)	R148L	probably benign	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Dzank1	T	G	2: 144,364,486 (GRCm39)	D37A	probably damaging	Het
Echdc2	A	G	4: 108,022,825 (GRCm39)	I34V	probably benign	Het
Esm1	A	T	13: 113,349,965 (GRCm39)	R128S	probably benign	Het
Fbh1	T	A	2: 11,769,041 (GRCm39)	I251F	probably damaging	Het
Fbrsl1	A	G	5: 110,595,817 (GRCm39)	S73P	probably damaging	Het
Fbxo6	A	T	4: 148,233,948 (GRCm39)	S49R	probably damaging	Het
Gm17093	A	T	14: 44,756,779 (GRCm39)	Q82L	probably damaging	Het
Hmcn2	T	C	2: 31,348,067 (GRCm39)		probably null	Het
Hspa4l	C	A	3: 40,700,081 (GRCm39)		probably benign	Het
Il3ra	G	A	14: 14,351,080 (GRCm38)	A201T	probably benign	Het
Irx5	T	A	8: 93,087,409 (GRCm39)	V447E	probably damaging	Het
Kif14	G	T	1: 136,410,697 (GRCm39)	L668F	probably damaging	Het
Lag3	T	A	6: 124,881,416 (GRCm39)	R519W	unknown	Het
Lgr4	A	G	2: 109,842,283 (GRCm39)	N756S	probably damaging	Het
Lingo4	A	G	3: 94,309,848 (GRCm39)	H262R	probably benign	Het
Lingo4	T	A	3: 94,310,308 (GRCm39)	H415Q	probably benign	Het
Lkaaear1	C	A	2: 181,339,376 (GRCm39)	G25*	probably null	Het
Maco1	A	G	4: 134,555,610 (GRCm39)	Y288H	probably damaging	Het
Marf1	T	C	16: 13,932,095 (GRCm39)	K1641E	probably benign	Het
Mtfmt	T	C	9: 65,351,133 (GRCm39)		probably benign	Het
Mtif3	G	A	5: 146,893,598 (GRCm39)	T203M	probably benign	Het
Mycbp2	A	G	14: 103,407,430 (GRCm39)	I2740T	probably benign	Het
Nrdc	A	G	4: 108,903,809 (GRCm39)	T720A	probably benign	Het
Or2d2	T	C	7: 106,728,271 (GRCm39)	T110A	probably benign	Het
Peak1	T	A	9: 56,148,560 (GRCm39)	D32V	possibly damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Plekhg3	A	G	12: 76,612,311 (GRCm39)	R391G	possibly damaging	Het
Ppfia3	T	C	7: 44,990,542 (GRCm39)	D919G	probably damaging	Het
Pramel23	T	A	4: 143,424,939 (GRCm39)	Q168L	possibly damaging	Het
Rnase2b	T	A	14: 51,400,208 (GRCm39)	D96E	possibly damaging	Het
Rsf1	CGGCGGC	CGGCGGCCGCGGCGGC	7: 97,229,130 (GRCm39)		probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Serpina3f	A	G	12: 104,186,615 (GRCm39)	T394A	probably benign	Het
Six3	A	G	17: 85,928,720 (GRCm39)	N18S	possibly damaging	Het
Slc12a5	T	A	2: 164,825,285 (GRCm39)		probably null	Het
Slc35f6	A	G	5: 30,805,427 (GRCm39)	N21S	probably damaging	Het
Slc39a6	A	T	18: 24,729,351 (GRCm39)	I454N	probably damaging	Het
Slc40a1	T	A	1: 45,948,824 (GRCm39)	E485D	probably damaging	Het
Sort1	G	A	3: 108,235,385 (GRCm39)	C255Y	probably damaging	Het
Stab2	T	A	10: 86,785,771 (GRCm39)	T624S	probably benign	Het
Stk33	T	A	7: 108,939,605 (GRCm39)	I99L	probably benign	Het
Taf4b	T	A	18: 15,031,100 (GRCm39)	I828N	probably damaging	Het
Terf2	T	C	8: 107,803,110 (GRCm39)		probably benign	Het
Timd4	C	T	11: 46,706,344 (GRCm39)	R49C	probably damaging	Het
Tpte	T	C	8: 22,808,362 (GRCm39)	S166P	probably benign	Het
Trabd2b	T	C	4: 114,264,052 (GRCm39)	L13P	probably benign	Het
Trappc11	A	T	8: 47,975,476 (GRCm39)	Y247*	probably null	Het
Trnt1	C	T	6: 106,755,853 (GRCm39)	Q303*	probably null	Het
Tspyl5	T	A	15: 33,687,201 (GRCm39)	Q248L	possibly damaging	Het
Ubxn7	A	T	16: 32,200,322 (GRCm39)	K337N	probably damaging	Het
Unc13a	T	A	8: 72,095,816 (GRCm39)	I1234F	probably benign	Het
Vmn1r127	A	T	7: 21,052,943 (GRCm39)	F282I	probably damaging	Het
Wdhd1	A	T	14: 47,506,111 (GRCm39)		probably null	Het
Zfp605	A	G	5: 110,275,352 (GRCm39)	K157E	probably damaging	Het
Zhx2	T	A	15: 57,684,755 (GRCm39)	D41E	probably benign	Het

Other mutations in Aldh1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Aldh1b1	APN	4	45,803,472 (GRCm39)	missense	possibly damaging	0.87
R0557:Aldh1b1	UTSW	4	45,802,647 (GRCm39)	missense	probably benign	0.00
R1203:Aldh1b1	UTSW	4	45,803,359 (GRCm39)	missense	probably damaging	1.00
R1807:Aldh1b1	UTSW	4	45,802,873 (GRCm39)	missense	possibly damaging	0.69
R1939:Aldh1b1	UTSW	4	45,802,755 (GRCm39)	missense	possibly damaging	0.53
R4722:Aldh1b1	UTSW	4	45,803,472 (GRCm39)	missense	probably damaging	1.00
R4847:Aldh1b1	UTSW	4	45,802,625 (GRCm39)	missense	possibly damaging	0.92
R4871:Aldh1b1	UTSW	4	45,803,383 (GRCm39)	missense	probably benign	0.00
R4931:Aldh1b1	UTSW	4	45,803,661 (GRCm39)	missense	probably benign	0.08
R5071:Aldh1b1	UTSW	4	45,803,383 (GRCm39)	splice site	probably null
R5216:Aldh1b1	UTSW	4	45,803,652 (GRCm39)	missense	probably damaging	1.00
R5582:Aldh1b1	UTSW	4	45,802,750 (GRCm39)	missense	probably damaging	1.00
R6077:Aldh1b1	UTSW	4	45,802,525 (GRCm39)	missense	possibly damaging	0.92
R6640:Aldh1b1	UTSW	4	45,803,868 (GRCm39)	missense	possibly damaging	0.92
R6692:Aldh1b1	UTSW	4	45,803,427 (GRCm39)	missense	probably damaging	1.00
R7055:Aldh1b1	UTSW	4	45,802,909 (GRCm39)	missense	possibly damaging	0.84
R7935:Aldh1b1	UTSW	4	45,802,968 (GRCm39)	missense	probably benign	0.13
R7949:Aldh1b1	UTSW	4	45,802,807 (GRCm39)	missense	possibly damaging	0.53
R7976:Aldh1b1	UTSW	4	45,803,092 (GRCm39)	missense	possibly damaging	0.92
R8441:Aldh1b1	UTSW	4	45,802,465 (GRCm39)	start codon destroyed	probably null
R8515:Aldh1b1	UTSW	4	45,803,818 (GRCm39)	missense	probably damaging	1.00
R8698:Aldh1b1	UTSW	4	45,802,942 (GRCm39)	missense	probably damaging	1.00
R8995:Aldh1b1	UTSW	4	45,803,413 (GRCm39)	missense	possibly damaging	0.48
R9303:Aldh1b1	UTSW	4	45,803,811 (GRCm39)	missense	probably damaging	0.98
R9305:Aldh1b1	UTSW	4	45,803,811 (GRCm39)	missense	probably damaging	0.98
R9504:Aldh1b1	UTSW	4	45,802,905 (GRCm39)	missense	probably damaging	0.96
Z1088:Aldh1b1	UTSW	4	45,802,540 (GRCm39)	missense	probably benign	0.11
Z1088:Aldh1b1	UTSW	4	45,802,539 (GRCm39)	missense	probably benign	0.06
Z1177:Aldh1b1	UTSW	4	45,802,692 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTGTACCGTTACTTCGC -3'
(R):5'- TCTTGAGGTTAGACTCGCCAG -3'

Sequencing Primer
(F):5'- ACCGTTACTTCGCTGGCTGG -3'
(R):5'- AGCTGCCTTCTGAATCAGG -3'

Posted On

2016-05-10