Mutagenetix > Incidental Mutation

Incidental Mutation 'R6077:Aldh1b1'

482782

Institutional Source

Beutler Lab

Gene Symbol

Aldh1b1

Ensembl Gene

ENSMUSG00000035561

Gene Name

aldehyde dehydrogenase 1 family, member B1

Synonyms

2700007F14Rik

MMRRC Submission

044238-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6077 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

45799022-45804604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45802525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 21 (Y21C)

Ref Sequence

ENSEMBL: ENSMUSP00000134082 (fasta)

Gene Model

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

AlphaFold

Q9CZS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044384
AA Change: Y21C

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041260
Gene: ENSMUSG00000035561
AA Change: Y21C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172750
AA Change: Y21C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134082
Gene: ENSMUSG00000035561
AA Change: Y21C

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	T	11: 100,410,583 (GRCm39)	V132I	probably benign	Het
Adgrb3	A	T	1: 25,133,081 (GRCm39)	L1335*	probably null	Het
Adgre5	A	G	8: 84,454,595 (GRCm39)	S301P	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankrd7	T	A	6: 18,868,071 (GRCm39)	S112R	probably benign	Het
Arhgap23	T	A	11: 97,382,058 (GRCm39)		probably null	Het
Atp4a	G	A	7: 30,415,344 (GRCm39)	M321I	probably benign	Het
C2cd4d	A	T	3: 94,271,615 (GRCm39)	R294W	probably damaging	Het
Carns1	T	C	19: 4,220,875 (GRCm39)	I352V	probably benign	Het
Cdh17	T	A	4: 11,803,969 (GRCm39)	S547R	probably benign	Het
Cdyl2	G	T	8: 117,316,129 (GRCm39)	N286K	probably damaging	Het
Fam186a	C	A	15: 99,840,584 (GRCm39)	V1887L	possibly damaging	Het
Fat4	C	T	3: 39,056,951 (GRCm39)	R4216C	probably damaging	Het
Fcamr	T	C	1: 130,740,663 (GRCm39)	W361R	probably damaging	Het
Helz2	G	A	2: 180,874,831 (GRCm39)	P1888S	probably benign	Het
Itih1	A	T	14: 30,651,833 (GRCm39)	F840L	possibly damaging	Het
Kansl2	T	C	15: 98,429,312 (GRCm39)	D146G	probably benign	Het
Kcnk18	T	C	19: 59,223,746 (GRCm39)	V297A	probably damaging	Het
Kif1a	T	C	1: 92,982,618 (GRCm39)	T720A	possibly damaging	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Large2	C	T	2: 92,196,915 (GRCm39)	R423K	probably benign	Het
Lgals3bp	A	G	11: 118,290,568 (GRCm39)	V13A	probably damaging	Het
Lrrd1	A	G	5: 3,900,837 (GRCm39)	I381V	probably benign	Het
Mastl	A	T	2: 23,045,806 (GRCm39)	I23N	probably damaging	Het
Mettl23	T	C	11: 116,739,728 (GRCm39)	V1A	possibly damaging	Het
Mindy2	A	G	9: 70,538,363 (GRCm39)	V324A	probably damaging	Het
Mtmr4	T	A	11: 87,501,845 (GRCm39)	L633Q	probably damaging	Het
Myh1	G	A	11: 67,102,273 (GRCm39)	E855K	probably damaging	Het
Nin	C	T	12: 70,066,006 (GRCm39)	A2026T	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Or2w1	A	T	13: 21,317,463 (GRCm39)	I173F	probably benign	Het
Otulin	T	C	15: 27,611,696 (GRCm39)	T166A	probably benign	Het
P2ry14	T	A	3: 59,022,798 (GRCm39)	R230W	probably damaging	Het
Pcsk4	T	C	10: 80,162,073 (GRCm39)	E83G	probably damaging	Het
Raet1e	C	A	10: 22,057,887 (GRCm39)	T218N	possibly damaging	Het
Rsf1	GCGGCGGC	GCGGCGGCGTCGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Safb	G	A	17: 56,909,956 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,527,940 (GRCm39)	N850I	probably damaging	Het
Slc16a4	A	G	3: 107,208,381 (GRCm39)	D297G	possibly damaging	Het
Tcf7l2	A	T	19: 55,905,868 (GRCm39)	K278*	probably null	Het
Tesmin	T	C	19: 3,439,260 (GRCm39)	V104A	possibly damaging	Het
Tiam1	A	G	16: 89,594,918 (GRCm39)		probably null	Het
Tmc4	T	C	7: 3,670,526 (GRCm39)	T522A	probably damaging	Het
Tmprss3	T	A	17: 31,408,141 (GRCm39)	I274F	possibly damaging	Het
Topbp1	A	G	9: 103,210,189 (GRCm39)	K916E	probably damaging	Het
Trdv1	A	G	14: 54,119,513 (GRCm39)	D58G	probably benign	Het
Ube2g2	G	T	10: 77,458,139 (GRCm39)		probably benign	Het
Unc5d	G	T	8: 29,165,335 (GRCm39)	Q747K	possibly damaging	Het
Xpo6	A	G	7: 125,709,124 (GRCm39)	V819A	possibly damaging	Het
Zan	T	A	5: 137,412,559 (GRCm39)		probably benign	Het
Zfp317	T	A	9: 19,558,184 (GRCm39)	W133R	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
R4994:Aldh1b1	UTSW	4	45,803,128 (GRCm39)	missense	possibly damaging	0.90
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
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'- TGGATTTTGTACCCCACAACC -3'
(R):5'- AGATCAGCTAGGCGGTTCAG -3'

Sequencing Primer
(F):5'- ACAACCTATGCTTTTGGAGGC -3'
(R):5'- GCTCTGAGGCATCCATCCTG -3'

Posted On

2017-07-14