Mutagenetix > Incidental Mutation

Incidental Mutation 'R7935:Aldh1b1'

648665

Institutional Source

Beutler Lab

Gene Symbol

Aldh1b1

Ensembl Gene

ENSMUSG00000035561

Gene Name

aldehyde dehydrogenase 1 family, member B1

Synonyms

2700007F14Rik

MMRRC Submission

045981-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7935 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45799022-45804604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45802968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 169 (H169N)

Ref Sequence

ENSEMBL: ENSMUSP00000041260 (fasta)

Gene Model

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

AlphaFold

Q9CZS1

Predicted Effect

probably benign
Transcript: ENSMUST00000044384
AA Change: H169N

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041260
Gene: ENSMUSG00000035561
AA Change: H169N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,308,732 (GRCm39)	V124A	probably benign	Het
Abca4	A	G	3: 121,904,186 (GRCm39)	M746V	possibly damaging	Het
Aldh18a1	G	T	19: 40,562,226 (GRCm39)	S266*	probably null	Het
Anpep	A	G	7: 79,476,709 (GRCm39)	I756T	possibly damaging	Het
Asb16	A	T	11: 102,168,739 (GRCm39)	E405V	probably benign	Het
B4galnt1	T	A	10: 127,007,490 (GRCm39)	F464I	probably damaging	Het
Bpifb5	A	G	2: 154,070,975 (GRCm39)	I225V	probably benign	Het
Brox	T	C	1: 183,062,484 (GRCm39)	E290G	probably damaging	Het
Cacna1s	T	A	1: 136,020,333 (GRCm39)	V790D	possibly damaging	Het
Cacng6	G	T	7: 3,473,384 (GRCm39)	K69N	possibly damaging	Het
Catsperg1	A	G	7: 28,895,344 (GRCm39)	I503T	possibly damaging	Het
Cdcp3	A	G	7: 130,852,205 (GRCm39)	N814D	probably damaging	Het
Celsr3	A	C	9: 108,706,840 (GRCm39)	M1108L	probably benign	Het
Chd2	T	C	7: 73,149,373 (GRCm39)	N449S	probably benign	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Ctnna2	T	C	6: 76,919,270 (GRCm39)	E656G	probably damaging	Het
Dnah17	A	T	11: 118,018,048 (GRCm39)	M149K	probably benign	Het
Dpp8	A	T	9: 64,944,262 (GRCm39)	M10L	possibly damaging	Het
Dst	T	C	1: 34,329,486 (GRCm39)	L4838P	probably damaging	Het
Eif4g3	T	A	4: 137,824,082 (GRCm39)	I55N	probably damaging	Het
Gm10750	A	G	2: 148,858,017 (GRCm39)	L78P	unknown	Het
Gulo	T	G	14: 66,237,288 (GRCm39)	K200Q	probably benign	Het
Jmjd8	T	A	17: 26,048,071 (GRCm39)	L56Q	probably benign	Het
Kansl1	G	T	11: 104,315,112 (GRCm39)	Q309K	probably damaging	Het
Kcns3	A	C	12: 11,141,718 (GRCm39)	L327R	probably damaging	Het
Mapk10	A	G	5: 103,139,792 (GRCm39)	I153T	possibly damaging	Het
Muc5b	G	T	7: 141,400,569 (GRCm39)	M513I	unknown	Het
Nbea	A	G	3: 55,966,086 (GRCm39)	F459L	probably damaging	Het
Nrcam	G	A	12: 44,631,644 (GRCm39)	V1066I	possibly damaging	Het
Numa1	A	G	7: 101,651,538 (GRCm39)	K178E	probably damaging	Het
Or4b1	C	T	2: 89,979,928 (GRCm39)	V141M	probably benign	Het
Or5au1	T	C	14: 52,272,645 (GRCm39)	K308E	probably benign	Het
Or5d14	G	A	2: 87,880,290 (GRCm39)	T226M	probably damaging	Het
Pabpc4	C	T	4: 123,191,837 (GRCm39)	A649V	probably benign	Het
Parp12	C	A	6: 39,079,612 (GRCm39)	K299N	possibly damaging	Het
Pcdhga7	A	G	18: 37,849,562 (GRCm39)	D523G	possibly damaging	Het
Polr2a	T	C	11: 69,638,330 (GRCm39)	T79A	probably benign	Het
Ppp1r7	T	C	1: 93,273,904 (GRCm39)	S27P	probably damaging	Het
Pramel42	G	T	5: 94,685,440 (GRCm39)	D367Y	probably damaging	Het
Prol1	T	G	5: 88,475,874 (GRCm39)	L88R	probably damaging	Het
Ptpn6	T	C	6: 124,709,425 (GRCm39)	Q57R	possibly damaging	Het
Rdh16	A	G	10: 127,637,334 (GRCm39)	I90V	probably benign	Het
Rock2	T	A	12: 16,998,558 (GRCm39)	C275S	probably damaging	Het
Rp1l1	G	T	14: 64,268,674 (GRCm39)	R1420L	probably damaging	Het
Sav1	A	G	12: 70,033,481 (GRCm39)	Y21H	probably damaging	Het
Sec24a	T	C	11: 51,612,749 (GRCm39)	N536S	probably benign	Het
Serpina9	A	C	12: 103,964,421 (GRCm39)	F339V	probably damaging	Het
Slc6a13	T	G	6: 121,311,450 (GRCm39)	L369V	possibly damaging	Het
Smarcd3	A	T	5: 24,801,024 (GRCm39)	F128I	probably damaging	Het
Smok2a	A	T	17: 13,444,599 (GRCm39)	I59F	probably damaging	Het
Spaca9	A	G	2: 28,583,634 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,124,928 (GRCm39)	E84D	probably benign	Het
Syt12	A	T	19: 4,497,830 (GRCm39)	V384E	probably benign	Het
Ticrr	T	A	7: 79,331,584 (GRCm39)	L727Q	probably damaging	Het
Tmem170b	A	G	13: 41,781,463 (GRCm39)	Y36C	probably damaging	Het
Tpd52l1	T	C	10: 31,214,201 (GRCm39)	T161A	probably damaging	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp512b	T	C	2: 181,231,689 (GRCm39)	T164A	probably damaging	Het
Zfp521	G	A	18: 13,977,549 (GRCm39)	P955S	probably damaging	Het
Zfp770	C	T	2: 114,027,305 (GRCm39)	V255I	probably benign	Het
Zfp942	A	T	17: 22,148,208 (GRCm39)	C140*	probably null	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
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
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'- AACCGCCTAGCTGATCTTGTG -3'
(R):5'- TGATGATGTTCACCACTCCTG -3'

Sequencing Primer
(F):5'- CCTAGCTGATCTTGTGGAACGAG -3'
(R):5'- GAAACCCCGCCTCTTTGATGAG -3'

Posted On

2020-09-15