Mutagenetix > Incidental Mutation

Incidental Mutation 'R8195:Aldob'

635389

Institutional Source

Beutler Lab

Gene Symbol

Aldob

Ensembl Gene

ENSMUSG00000028307

Gene Name

aldolase B, fructose-bisphosphate

Synonyms

Aldo-2, Aldo2

MMRRC Submission

067618-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R8195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49535995-49549546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49538822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 232 (N232S)

Ref Sequence

ENSEMBL: ENSMUSP00000029987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029987]

AlphaFold

Q91Y97

Predicted Effect

probably damaging
Transcript: ENSMUST00000029987
AA Change: N232S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029987
Gene: ENSMUSG00000028307
AA Change: N232S

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	364	1.8e-178	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: This gene encodes a subunit of the homotetrameric enzyme aldolase B, an isozyme of the class I fructose 1,6-bisphosphate aldolase enzyme. This enzyme catalyzes the conversion of fructose 1,6-bisphosphate to dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. Homozygous knockout mice for this gene exhibit liver damage and death following fructose ingestion. A pseudogene of this gene has been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Following exposure to a 40% fructose diet, mice homozygous for a null allele exhibit failure to thrive, liver pathology and dysfunction, and a high mortality rate. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,224,735 (GRCm39)	G483R	probably benign	Het
Abca9	T	C	11: 110,029,155 (GRCm39)	D801G	probably benign	Het
Ankhd1	T	C	18: 36,787,230 (GRCm39)	V322A		Het
Arfgef1	T	C	1: 10,243,478 (GRCm39)	K1024E	probably damaging	Het
Arhgef40	T	A	14: 52,226,226 (GRCm39)	V90E	probably damaging	Het
Cblc	A	T	7: 19,519,262 (GRCm39)	S399R	possibly damaging	Het
Ccdc17	T	A	4: 116,456,211 (GRCm39)	I368K	possibly damaging	Het
Ccdc17	T	A	4: 116,456,213 (GRCm39)	W369R	probably damaging	Het
Cd276	G	A	9: 58,444,755 (GRCm39)	T72I	probably damaging	Het
Cdk14	C	T	5: 5,277,159 (GRCm39)		probably null	Het
Cfap61	C	T	2: 145,789,095 (GRCm39)	S33L	probably benign	Het
Cmtm2a	A	G	8: 105,019,670 (GRCm39)	F7L	probably benign	Het
Eif2ak4	T	C	2: 118,280,819 (GRCm39)	I1062T	possibly damaging	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Fxr1	A	T	3: 34,101,878 (GRCm39)	E204V	probably damaging	Het
Fzd6	T	A	15: 38,894,959 (GRCm39)	L375Q	probably damaging	Het
Ggta1	T	A	2: 35,312,279 (GRCm39)	E33V	probably damaging	Het
Gnb1l	T	A	16: 18,362,965 (GRCm39)	I119N	probably benign	Het
Gpsm1	A	G	2: 26,214,929 (GRCm39)		probably null	Het
Hecw1	A	G	13: 14,480,692 (GRCm39)	I885T	probably damaging	Het
Itgb8	T	C	12: 119,131,905 (GRCm39)	D580G	probably damaging	Het
Kbtbd12	T	A	6: 88,594,913 (GRCm39)	T306S	possibly damaging	Het
Kctd1	C	T	18: 15,196,300 (GRCm39)	E108K	unknown	Het
Lrrc36	A	G	8: 106,178,717 (GRCm39)	D304G	possibly damaging	Het
Lrrn2	A	G	1: 132,865,082 (GRCm39)	E49G	probably damaging	Het
Lysmd2	C	A	9: 75,533,310 (GRCm39)	Y88*	probably null	Het
Lzts3	A	G	2: 130,477,105 (GRCm39)	S448P	probably benign	Het
Meioc	T	A	11: 102,565,893 (GRCm39)	L447*	probably null	Het
Mybpc1	A	G	10: 88,394,553 (GRCm39)	I244T	possibly damaging	Het
Necab3	G	A	2: 154,389,363 (GRCm39)	A160V	probably benign	Het
Nek8	G	T	11: 78,061,587 (GRCm39)	P314Q	possibly damaging	Het
Nlrp5	A	G	7: 23,112,762 (GRCm39)	T140A	probably benign	Het
Or10p21	T	C	10: 128,847,444 (GRCm39)	C97R	probably damaging	Het
Or52ac1	A	T	7: 104,246,133 (GRCm39)	F85Y	probably damaging	Het
Or7e169	A	T	9: 19,757,780 (GRCm39)	I45N	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pgm3	G	A	9: 86,452,374 (GRCm39)	R29W	probably damaging	Het
Ppp2r3d	A	G	9: 101,090,231 (GRCm39)	C31R	probably damaging	Het
Prom1	C	T	5: 44,194,770 (GRCm39)	S334N	possibly damaging	Het
Rai14	C	T	15: 10,575,302 (GRCm39)	S581N	probably benign	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rgs16	T	C	1: 153,616,689 (GRCm39)	F42S	probably benign	Het
Slc2a6	T	G	2: 26,917,838 (GRCm39)	E27A	probably benign	Het
Slc38a1	G	A	15: 96,490,447 (GRCm39)	S110L	probably benign	Het
Sox30	C	T	11: 45,882,592 (GRCm39)	R541C	probably benign	Het
Sptbn4	C	A	7: 27,108,314 (GRCm39)	E703*	probably null	Het
Tjp1	A	T	7: 64,993,470 (GRCm39)	F34L	probably damaging	Het
Trim65	T	C	11: 116,017,037 (GRCm39)	Q475R	probably benign	Het
Ttc38	A	T	15: 85,728,716 (GRCm39)	R223*	probably null	Het
Tulp1	T	C	17: 28,583,300 (GRCm39)	Q80R	probably benign	Het
Utp23	T	C	15: 51,745,598 (GRCm39)	F139L	possibly damaging	Het
Vmn1r121	A	T	7: 20,832,228 (GRCm39)	F71I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zdbf2	T	C	1: 63,343,225 (GRCm39)	S535P	possibly damaging	Het
Zfp788	T	G	7: 41,298,801 (GRCm39)	M479R	probably benign	Het

Other mutations in Aldob

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Aldob	APN	4	49,536,843 (GRCm39)	missense	probably benign	0.01
IGL00774:Aldob	APN	4	49,536,843 (GRCm39)	missense	probably benign	0.01
IGL00976:Aldob	APN	4	49,541,220 (GRCm39)	missense	probably damaging	1.00
IGL02118:Aldob	APN	4	49,538,790 (GRCm39)	nonsense	probably null
IGL02494:Aldob	APN	4	49,541,138 (GRCm39)	missense	possibly damaging	0.92
IGL03001:Aldob	APN	4	49,542,844 (GRCm39)	missense	probably damaging	1.00
despondent	UTSW	4	49,539,789 (GRCm39)	missense	probably damaging	1.00
Saddened	UTSW	4	49,538,796 (GRCm39)	missense	probably benign
P0014:Aldob	UTSW	4	49,538,153 (GRCm39)	missense	probably benign	0.34
R0046:Aldob	UTSW	4	49,543,842 (GRCm39)	missense	possibly damaging	0.83
R0046:Aldob	UTSW	4	49,543,842 (GRCm39)	missense	possibly damaging	0.83
R1770:Aldob	UTSW	4	49,536,861 (GRCm39)	missense	probably damaging	1.00
R1867:Aldob	UTSW	4	49,543,835 (GRCm39)	missense	possibly damaging	0.84
R1975:Aldob	UTSW	4	49,538,171 (GRCm39)	missense	probably benign	0.06
R6519:Aldob	UTSW	4	49,543,835 (GRCm39)	missense	probably damaging	1.00
R6858:Aldob	UTSW	4	49,538,796 (GRCm39)	missense	probably benign
R6897:Aldob	UTSW	4	49,539,789 (GRCm39)	missense	probably damaging	1.00
R7106:Aldob	UTSW	4	49,541,258 (GRCm39)	missense	probably damaging	1.00
R7846:Aldob	UTSW	4	49,538,858 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAATGCAGATGTTTGTGGC -3'
(R):5'- GTCCATAGGAGACTTGGGGATC -3'

Sequencing Primer
(F):5'- GGCTATCTTCTGAAGGACTAAAAAC -3'
(R):5'- ACTTGGGGATCTTAGAAGATTTGACC -3'

Posted On

2020-07-13