Mutagenetix > Incidental Mutation

Incidental Mutation 'R1770:Aldob'

196473

Institutional Source

Beutler Lab

Gene Symbol

Aldob

Ensembl Gene

ENSMUSG00000028307

Gene Name

aldolase B, fructose-bisphosphate

Synonyms

Aldo-2, Aldo2

MMRRC Submission

039801-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.411) question?

Stock #

R1770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49535995-49549546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49536861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 343 (Y343H)

Ref Sequence

ENSEMBL: ENSMUSP00000029987 (fasta)

Gene Model

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

AlphaFold

Q91Y97

Predicted Effect

probably damaging
Transcript: ENSMUST00000029987
AA Change: Y343H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029987
Gene: ENSMUSG00000028307
AA Change: Y343H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148415

Meta Mutation Damage Score

0.5501

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

92% (69/75)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	C	12: 84,661,874 (GRCm39)	T84A	probably benign	Het
Adgra1	T	A	7: 139,453,947 (GRCm39)	Y161*	probably null	Het
Aldoart1	G	T	4: 72,770,173 (GRCm39)	H212N	probably benign	Het
Ankrd17	A	T	5: 90,391,235 (GRCm39)	V2036E	possibly damaging	Het
Ass1	A	G	2: 31,376,528 (GRCm39)	T131A	probably benign	Het
Baz1a	C	T	12: 54,945,293 (GRCm39)	R1354H	probably damaging	Het
C2cd2l	A	G	9: 44,228,108 (GRCm39)	V71A	probably benign	Het
C4b	T	A	17: 34,955,901 (GRCm39)	N678I	possibly damaging	Het
Carmil1	A	G	13: 24,357,657 (GRCm39)	L64P	probably damaging	Het
Cdh18	T	C	15: 23,474,487 (GRCm39)	S786P	probably benign	Het
Cep135	A	G	5: 76,751,042 (GRCm39)	E296G	possibly damaging	Het
Chml	G	A	1: 175,515,444 (GRCm39)	T159I	probably benign	Het
Cntn3	C	T	6: 102,246,166 (GRCm39)	E328K	possibly damaging	Het
Cstf1	A	G	2: 172,214,983 (GRCm39)	I35V	possibly damaging	Het
Cyp2c65	A	G	19: 39,070,642 (GRCm39)	K275R	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dbx2	T	C	15: 95,522,615 (GRCm39)	E364G	probably benign	Het
Dcaf13	A	T	15: 38,993,633 (GRCm39)	N242I	probably damaging	Het
Dcc	A	G	18: 71,579,470 (GRCm39)	V701A	probably benign	Het
Elapor2	A	T	5: 9,468,021 (GRCm39)	T230S	probably benign	Het
Fastkd5	A	T	2: 130,456,200 (GRCm39)	Y797N	probably damaging	Het
Fat4	T	A	3: 39,064,417 (GRCm39)	I4791K	probably damaging	Het
Gm3852	T	C	1: 46,051,048 (GRCm39)	I45V	possibly damaging	Het
Gng4	A	G	13: 13,999,851 (GRCm39)	D40G	probably damaging	Het
Gns	A	G	10: 121,213,952 (GRCm39)	D209G	probably benign	Het
Kif6	C	A	17: 50,210,677 (GRCm39)	Q791K	possibly damaging	Het
Klhl35	G	A	7: 99,123,082 (GRCm39)	V569M	possibly damaging	Het
Krt1c	A	G	15: 101,719,589 (GRCm39)	S694P	unknown	Het
Lrrc8c	A	G	5: 105,754,603 (GRCm39)	Y126C	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,838 (GRCm39)	V62A	probably benign	Het
Map1b	T	C	13: 99,567,001 (GRCm39)	R1907G	unknown	Het
Mertk	A	G	2: 128,592,094 (GRCm39)	I273V	probably benign	Het
Mfsd4b1	A	G	10: 39,879,223 (GRCm39)	Y225H	probably damaging	Het
Mrc2	T	C	11: 105,229,619 (GRCm39)	V684A	probably damaging	Het
Msh6	G	A	17: 88,287,651 (GRCm39)	W97*	probably null	Het
Mtmr10	A	G	7: 63,986,469 (GRCm39)	I516V	possibly damaging	Het
Myo7a	A	T	7: 97,761,813 (GRCm39)		probably benign	Het
Ndufs5	T	C	4: 123,606,661 (GRCm39)	Y92C	probably benign	Het
Nlrp1b	C	T	11: 71,050,979 (GRCm39)	V1035I	probably benign	Het
Ntrk2	A	G	13: 59,009,132 (GRCm39)	R308G	possibly damaging	Het
Or12e13	A	G	2: 87,663,643 (GRCm39)	I87V	probably benign	Het
Pcdhb16	G	T	18: 37,612,233 (GRCm39)	G398W	probably damaging	Het
Plpbp	T	A	8: 27,543,326 (GRCm39)	S237T	probably damaging	Het
Pnpla6	T	A	8: 3,584,634 (GRCm39)	F769I	possibly damaging	Het
Polk	A	G	13: 96,631,950 (GRCm39)	V261A	probably damaging	Het
Prss52	C	T	14: 64,351,082 (GRCm39)	A289V	probably damaging	Het
Puf60	T	C	15: 75,942,723 (GRCm39)	K407E	probably benign	Het
Pzp	T	C	6: 128,462,580 (GRCm39)	D1455G	probably damaging	Het
Ranbp17	T	C	11: 33,167,301 (GRCm39)	N1054S	probably benign	Het
Sdk2	A	G	11: 113,684,567 (GRCm39)	S1965P	probably benign	Het
Spryd7	T	C	14: 61,777,654 (GRCm39)	Y142C	probably damaging	Het
Srrt	A	T	5: 137,298,122 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,572,464 (GRCm39)	E935G	possibly damaging	Het
Tas2r115	G	A	6: 132,714,934 (GRCm39)	R6C	probably damaging	Het
Tdrd7	T	A	4: 45,987,681 (GRCm39)		probably benign	Het
Trim29	A	T	9: 43,243,673 (GRCm39)	Q564L	probably damaging	Het
Trim5	T	C	7: 103,925,868 (GRCm39)	D231G	probably damaging	Het
Trpv2	A	G	11: 62,487,787 (GRCm39)	K676E	probably benign	Het
Ttn	T	C	2: 76,583,859 (GRCm39)	R22383G	probably damaging	Het
Ugt1a2	A	G	1: 88,129,160 (GRCm39)	I268V	probably benign	Het
Ugt8a	T	C	3: 125,667,852 (GRCm39)	N330D	probably benign	Het
Utrn	G	A	10: 12,351,040 (GRCm39)	H2822Y	probably damaging	Het
Vmn1r176	G	A	7: 23,534,946 (GRCm39)	A69V	probably benign	Het
Vmn2r106	T	C	17: 20,488,560 (GRCm39)	Y613C	probably damaging	Het
Wdfy1	A	T	1: 79,686,857 (GRCm39)	W296R	probably damaging	Het
Zfp11	G	A	5: 129,734,822 (GRCm39)	T213I	possibly damaging	Het
Zfp142	A	T	1: 74,618,790 (GRCm39)	F193I	probably damaging	Het
Zfp764	G	A	7: 127,004,739 (GRCm39)	Q131*	probably null	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
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
R8195:Aldob	UTSW	4	49,538,822 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTGTACCAACGGAAGGTTCATACAC -3'
(R):5'- ACAGGACTGTAAGAGACTGTTGTTGC -3'

Sequencing Primer
(F):5'- CATGCTCATTCTTGGGTTTCAAAG -3'
(R):5'- GTGAGTAATATGAGCCTCAAACCTG -3'

Posted On

2014-05-23