Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01743:Aldoa'

152918

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldoa

Ensembl Gene

ENSMUSG00000114515

Gene Name

aldolase A, fructose-bisphosphate

Synonyms

Aldo-1, Aldo1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01743

Quality Score

Status

Chromosome

Chromosomal Location

126394406-126399537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126395875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 198 (D198E)

Ref Sequence

ENSEMBL: ENSMUSP00000146116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032934] [ENSMUST00000032936] [ENSMUST00000087566] [ENSMUST00000106348] [ENSMUST00000133514] [ENSMUST00000151137] [ENSMUST00000205336] [ENSMUST00000205890] [ENSMUST00000206570] [ENSMUST00000205935] [ENSMUST00000205324] [ENSMUST00000153686] [ENSMUST00000141355] [ENSMUST00000207534]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032934
AA Change: D144E

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032934
Gene: ENSMUSG00000030695
AA Change: D144E

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	364	1.2e-179	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032936

SMART Domains

Protein: ENSMUSP00000032936
Gene: ENSMUSG00000030697

Domain	Start	End	E-Value	Type
PP2Ac	20	290	4.04e-147	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087566
AA Change: D198E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084846
Gene: ENSMUSG00000030695
AA Change: D198E

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glycolytic	69	418	2.8e-193	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106348
AA Change: D144E

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101955
Gene: ENSMUSG00000030695
AA Change: D144E

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	364	1.2e-179	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133514

SMART Domains

Protein: ENSMUSP00000114587
Gene: ENSMUSG00000030695

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glycolytic	69	193	5.4e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139657

Predicted Effect

probably benign
Transcript: ENSMUST00000151137
AA Change: D144E

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118417
Gene: ENSMUSG00000030695
AA Change: D144E

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	237	6.9e-121	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205336
AA Change: D198E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000205890
AA Change: D144E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000206570

Predicted Effect

probably benign
Transcript: ENSMUST00000205935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205950

Predicted Effect

probably benign
Transcript: ENSMUST00000206334

Predicted Effect

probably benign
Transcript: ENSMUST00000205324

Predicted Effect

probably benign
Transcript: ENSMUST00000153686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147748

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141355
AA Change: D144E

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117349
Gene: ENSMUSG00000030695
AA Change: D144E

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	131	7.5e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207534

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,646,238 (GRCm39)	N750K	probably benign	Het
Ackr2	T	C	9: 121,738,566 (GRCm39)	C314R	probably benign	Het
Adar	C	T	3: 89,652,747 (GRCm39)	Q210*	probably null	Het
Aifm1	A	G	X: 47,569,153 (GRCm39)		probably benign	Het
Ampd1	T	A	3: 103,002,201 (GRCm39)		probably benign	Het
Arhgef18	G	T	8: 3,414,697 (GRCm39)	C25F	probably benign	Het
Btnl1	T	C	17: 34,604,659 (GRCm39)	I480T	probably damaging	Het
Capn9	T	C	8: 125,318,508 (GRCm39)	S125P	probably benign	Het
Cd40lg	T	A	X: 56,257,592 (GRCm39)	Y26*	probably null	Het
Cdc42bpg	G	T	19: 6,359,853 (GRCm39)		probably null	Het
Cdh10	T	C	15: 18,986,855 (GRCm39)	L362P	probably benign	Het
Dhx16	A	G	17: 36,199,000 (GRCm39)	D782G	probably damaging	Het
Dnajb14	G	T	3: 137,611,761 (GRCm39)	V320L	possibly damaging	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Ercc6	T	C	14: 32,274,561 (GRCm39)	V568A	probably damaging	Het
Faf2	T	C	13: 54,789,311 (GRCm39)		probably null	Het
Fbrsl1	C	T	5: 110,529,506 (GRCm39)	V223M	probably damaging	Het
Fcrl5	T	C	3: 87,351,598 (GRCm39)	V282A	probably damaging	Het
Fxr2	C	T	11: 69,543,448 (GRCm39)	L650F	possibly damaging	Het
Gabrq	A	G	X: 71,880,448 (GRCm39)	M314V	probably benign	Het
Gnas	T	A	2: 174,140,125 (GRCm39)	Y157*	probably null	Het
Gtf2i	T	C	5: 134,315,747 (GRCm39)	E175G	probably damaging	Het
Gtf3c1	A	C	7: 125,262,587 (GRCm39)	Y1091D	probably damaging	Het
Heatr5b	G	A	17: 79,132,069 (GRCm39)	Q345*	probably null	Het
Hydin	T	C	8: 111,319,408 (GRCm39)	V4437A	possibly damaging	Het
Idi2	T	A	13: 9,008,578 (GRCm39)	L112Q	probably damaging	Het
Ift80	C	T	3: 68,869,629 (GRCm39)	V221M	probably benign	Het
Il16	A	G	7: 83,301,507 (GRCm39)	F205S	probably benign	Het
Irf1	T	A	11: 53,665,277 (GRCm39)	M218K	probably benign	Het
Itga8	T	C	2: 12,270,144 (GRCm39)	N114S	probably benign	Het
Itgae	T	C	11: 73,002,585 (GRCm39)	V114A	probably benign	Het
Klhdc10	A	G	6: 30,441,933 (GRCm39)		probably null	Het
Krt78	C	A	15: 101,859,333 (GRCm39)	R288L	probably benign	Het
Lars2	A	T	9: 123,282,313 (GRCm39)	L632F	probably damaging	Het
Mpdz	T	C	4: 81,235,919 (GRCm39)	D1220G	probably damaging	Het
Msl1	C	T	11: 98,696,245 (GRCm39)	T597I	probably damaging	Het
Mtor	T	C	4: 148,615,070 (GRCm39)		probably benign	Het
Myo1b	T	C	1: 51,821,179 (GRCm39)	T435A	probably damaging	Het
Neb	A	G	2: 52,115,679 (GRCm39)	Y4176H	probably damaging	Het
Nxpe3	A	G	16: 55,670,128 (GRCm39)	F326L	probably benign	Het
Or13a21	T	C	7: 139,999,581 (GRCm39)	Y35C	probably damaging	Het
Or2ag1	A	G	7: 106,313,541 (GRCm39)	S116P	possibly damaging	Het
Pak5	T	A	2: 135,929,333 (GRCm39)	R617W	probably damaging	Het
Peak1	C	A	9: 56,166,486 (GRCm39)	V481L	probably damaging	Het
Pik3ap1	G	A	19: 41,281,267 (GRCm39)		probably benign	Het
Pmm1	C	T	15: 81,844,987 (GRCm39)	E6K	probably benign	Het
Ppp2r5c	G	A	12: 110,546,868 (GRCm39)	V454M	probably benign	Het
Ptprf	C	T	4: 118,106,095 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,443,024 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,874,912 (GRCm39)		probably benign	Het
Rps6ka5	A	T	12: 100,541,892 (GRCm39)		probably null	Het
Scarb2	A	G	5: 92,608,662 (GRCm39)	V188A	probably benign	Het
Sfrp1	T	A	8: 23,902,354 (GRCm39)		probably benign	Het
Siglec15	T	A	18: 78,086,820 (GRCm39)		probably benign	Het
Smgc	A	G	15: 91,738,796 (GRCm39)	I485V	probably benign	Het
Tas2r124	A	G	6: 132,731,798 (GRCm39)	I36V	probably benign	Het
Trmt10b	G	T	4: 45,305,879 (GRCm39)	G185W	probably damaging	Het
Ttll4	A	G	1: 74,727,352 (GRCm39)	N798S	possibly damaging	Het
Ttn	G	T	2: 76,619,896 (GRCm39)	T15924N	probably damaging	Het
Utrn	A	T	10: 12,587,301 (GRCm39)	Y912N	possibly damaging	Het
Vmn2r113	T	C	17: 23,177,285 (GRCm39)	Y690H	probably benign	Het
Vmn2r51	T	C	7: 9,834,154 (GRCm39)	R295G	probably damaging	Het
Vpreb3	A	G	10: 75,784,231 (GRCm39)	T14A	probably benign	Het

Other mutations in Aldoa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Aldoa	APN	7	126,395,207 (GRCm39)	missense	probably benign	0.22
IGL02505:Aldoa	APN	7	126,395,166 (GRCm39)	missense	probably damaging	1.00
R2079:Aldoa	UTSW	7	126,396,076 (GRCm39)	missense	probably null	1.00
R2141:Aldoa	UTSW	7	126,396,814 (GRCm39)	critical splice donor site	probably null
R4650:Aldoa	UTSW	7	126,396,879 (GRCm39)	missense	possibly damaging	0.95
R7144:Aldoa	UTSW	7	126,396,034 (GRCm39)	missense	possibly damaging	0.91

Posted On

2014-02-04