Mutagenetix > Incidental Mutation

Incidental Mutation 'R7144:Aldoa'

553641

Institutional Source

Beutler Lab

Gene Symbol

Aldoa

Ensembl Gene

ENSMUSG00000114515

Gene Name

aldolase A, fructose-bisphosphate

Synonyms

Aldo-1, Aldo1

MMRRC Submission

045328-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126394406-126399537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126396034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 124 (T124N)

Ref Sequence

ENSEMBL: ENSMUSP00000032934 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032934
AA Change: T124N

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032934
Gene: ENSMUSG00000030695
AA Change: T124N

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: T178N

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000084846
Gene: ENSMUSG00000030695
AA Change: T178N

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: T124N

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101955
Gene: ENSMUSG00000030695
AA Change: T124N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133514
AA Change: T178N

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114587
Gene: ENSMUSG00000030695
AA Change: T178N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141355
AA Change: T124N

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117349
Gene: ENSMUSG00000030695
AA Change: T124N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151137
AA Change: T124N

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118417
Gene: ENSMUSG00000030695
AA Change: T124N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153686

Predicted Effect

probably benign
Transcript: ENSMUST00000205324

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205336
AA Change: T178N

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205890
AA Change: T124N

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000205935

Predicted Effect

probably benign
Transcript: ENSMUST00000206334

Predicted Effect

probably benign
Transcript: ENSMUST00000206570

Predicted Effect

probably benign
Transcript: ENSMUST00000207534

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (95/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,032,796 (GRCm39)	I272F	possibly damaging	Het
Adcy10	G	T	1: 165,337,939 (GRCm39)	M184I	probably benign	Het
Ap4e1	T	A	2: 126,853,727 (GRCm39)	I55N	probably damaging	Het
Arhgap21	T	C	2: 20,870,198 (GRCm39)	T913A	probably benign	Het
Atrnl1	G	A	19: 58,030,784 (GRCm39)	E1309K	probably damaging	Het
BC034090	A	T	1: 155,117,777 (GRCm39)	C114S	probably damaging	Het
Brinp2	A	G	1: 158,122,994 (GRCm39)		probably null	Het
Ccn4	T	A	15: 66,784,879 (GRCm39)	V184E	probably damaging	Het
Ccna1	G	T	3: 54,953,120 (GRCm39)	H408Q	probably benign	Het
Cd209g	T	G	8: 4,185,189 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,219,905 (GRCm39)	I433V	probably benign	Het
Cdk2ap1	G	A	5: 124,492,421 (GRCm39)	P5L	probably damaging	Het
Cep128	T	C	12: 91,260,933 (GRCm39)	E310G	probably damaging	Het
Cflar	G	T	1: 58,793,007 (GRCm39)	V458F		Het
Clec4b2	A	G	6: 123,158,343 (GRCm39)	T70A	probably benign	Het
Cntnap5c	A	G	17: 58,593,883 (GRCm39)	T741A	probably benign	Het
Csf3r	A	T	4: 125,937,515 (GRCm39)	T800S	probably benign	Het
Csnk1g2	T	C	10: 80,473,733 (GRCm39)	Y67H	probably damaging	Het
Cyp2c67	A	T	19: 39,604,138 (GRCm39)	V406E	probably benign	Het
Dnah10	A	G	5: 124,900,006 (GRCm39)	D3868G	probably damaging	Het
Dnah7a	A	T	1: 53,737,867 (GRCm39)		probably null	Het
Dst	A	G	1: 34,191,324 (GRCm39)	N208S	probably damaging	Het
Echdc3	A	G	2: 6,211,224 (GRCm39)		probably null	Het
Edrf1	T	C	7: 133,239,578 (GRCm39)	S13P	probably benign	Het
Ephb1	T	C	9: 101,841,276 (GRCm39)	Y734C	probably damaging	Het
Eps8l1	A	G	7: 4,475,184 (GRCm39)	Y325C	probably damaging	Het
Evc2	A	G	5: 37,544,183 (GRCm39)	D644G	probably damaging	Het
Eya4	A	C	10: 23,048,943 (GRCm39)	D54E	probably benign	Het
Filip1	T	C	9: 79,727,495 (GRCm39)	S375G	possibly damaging	Het
Fmo9	A	G	1: 166,505,189 (GRCm39)	M68T	probably benign	Het
Gemin5	G	C	11: 58,032,489 (GRCm39)	P772A	probably benign	Het
Gle1	T	G	2: 29,833,805 (GRCm39)	C401G	probably damaging	Het
Gm7298	A	T	6: 121,738,546 (GRCm39)	I376F	probably damaging	Het
Gpr35	A	C	1: 92,910,353 (GRCm39)	I22L	probably benign	Het
Grin2b	T	G	6: 135,710,474 (GRCm39)	D1024A	possibly damaging	Het
Hmcn1	T	C	1: 150,539,624 (GRCm39)	N2956D	probably damaging	Het
Htt	T	C	5: 35,003,350 (GRCm39)	L1275P	probably damaging	Het
Ibtk	T	C	9: 85,625,744 (GRCm39)	D2G	probably benign	Het
Il16	T	A	7: 83,295,659 (GRCm39)	D1170V	probably damaging	Het
Iqgap3	T	A	3: 88,024,217 (GRCm39)	I1513N	probably damaging	Het
Kiz	T	G	2: 146,792,430 (GRCm39)		probably null	Het
Krt12	A	T	11: 99,306,839 (GRCm39)	*488K	probably null	Het
Lap3	A	T	5: 45,654,290 (GRCm39)	T83S	probably benign	Het
Lars2	T	A	9: 123,261,058 (GRCm39)	S410T	probably damaging	Het
Limch1	A	G	5: 67,175,001 (GRCm39)	T518A	probably benign	Het
Lrrc49	A	T	9: 60,522,439 (GRCm39)	S381T	probably damaging	Het
Lrrk2	A	G	15: 91,618,258 (GRCm39)	D919G	possibly damaging	Het
Mmp1a	A	T	9: 7,475,319 (GRCm39)	S363C	probably damaging	Het
Mrps22	A	C	9: 98,483,524 (GRCm39)		probably null	Het
Mybpc3	T	C	2: 90,964,949 (GRCm39)	I1066T	probably benign	Het
Myo10	A	T	15: 25,724,011 (GRCm39)	N215I	probably damaging	Het
Myocd	A	C	11: 65,109,474 (GRCm39)	L99R	probably damaging	Het
Nadk	T	G	4: 155,673,793 (GRCm39)	I394S	probably damaging	Het
Nadsyn1	T	C	7: 143,364,952 (GRCm39)	N251S	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ncapd2	G	A	6: 125,153,633 (GRCm39)	P694L	probably benign	Het
Or2ag1	T	A	7: 106,473,075 (GRCm39)	I126F	probably damaging	Het
Or2w3b	A	C	11: 58,623,571 (GRCm39)	L140R	probably damaging	Het
Or4a71	T	C	2: 89,357,901 (GRCm39)	I284M	probably damaging	Het
Or5t16	G	T	2: 86,819,164 (GRCm39)	R119S	probably damaging	Het
Pcdhb13	T	A	18: 37,576,309 (GRCm39)	I229K	probably damaging	Het
Pgbd5	A	T	8: 125,101,056 (GRCm39)	M400K	possibly damaging	Het
Phactr3	A	G	2: 177,944,529 (GRCm39)	N409S	probably damaging	Het
Pik3c2g	C	A	6: 139,606,868 (GRCm39)	P305Q	probably damaging	Het
Pik3r4	G	A	9: 105,527,783 (GRCm39)	V379M	probably damaging	Het
Pira12	A	G	7: 3,900,615 (GRCm39)	V45A	probably damaging	Het
Pkd1l2	A	T	8: 117,802,870 (GRCm39)	C250*	probably null	Het
Pramel14	A	C	4: 143,718,103 (GRCm39)	S447A	probably benign	Het
Rapgef6	A	C	11: 54,548,191 (GRCm39)	T792P	possibly damaging	Het
Rexo5	A	G	7: 119,404,414 (GRCm39)	D170G	probably damaging	Het
Rnf17	G	A	14: 56,749,789 (GRCm39)		probably null	Het
Septin11	A	G	5: 93,304,725 (GRCm39)	I181V	probably benign	Het
Serpina1e	T	G	12: 103,913,277 (GRCm39)	*414C	probably null	Het
Serpine1	C	A	5: 137,099,918 (GRCm39)	Q80H	probably damaging	Het
Sh3bp2	A	G	5: 34,718,975 (GRCm39)	N560S	probably benign	Het
Slc25a25	A	G	2: 32,309,178 (GRCm39)	F221S	probably damaging	Het
Spag17	G	T	3: 99,934,717 (GRCm39)		probably null	Het
Sspn	T	C	6: 145,906,881 (GRCm39)	L104P	probably damaging	Het
St18	A	C	1: 6,903,818 (GRCm39)	E693A	probably damaging	Het
St6galnac3	T	C	3: 153,117,169 (GRCm39)	I185V	possibly damaging	Het
St8sia1	T	C	6: 142,822,395 (GRCm39)	D156G	probably damaging	Het
Syne2	C	A	12: 76,052,152 (GRCm39)	S4092R	probably benign	Het
Tll1	T	A	8: 64,577,979 (GRCm39)	D76V	possibly damaging	Het
Tmco1	C	T	1: 167,136,022 (GRCm39)		probably benign	Het
Tnfaip3	T	A	10: 18,883,029 (GRCm39)	T179S	probably benign	Het
Trav16	T	C	14: 53,981,096 (GRCm39)	I95T	possibly damaging	Het
Trip12	A	T	1: 84,771,435 (GRCm39)	S280T	probably damaging	Het
Unc79	A	G	12: 103,108,885 (GRCm39)	M2166V	probably benign	Het
Vmn2r1	A	G	3: 63,997,362 (GRCm39)	I339M	probably damaging	Het
Vwa5b1	A	G	4: 138,332,742 (GRCm39)		probably null	Het
Washc4	A	T	10: 83,409,638 (GRCm39)		probably null	Het
Wiz	A	G	17: 32,576,602 (GRCm39)	S642P	possibly damaging	Het
Zeb2	T	A	2: 45,000,053 (GRCm39)	K60N	possibly damaging	Het
Zfat	T	A	15: 68,050,631 (GRCm39)	T797S	probably benign	Het
Zfp74	T	C	7: 29,634,590 (GRCm39)	K373E	probably damaging	Het
Zswim5	T	C	4: 116,833,173 (GRCm39)		probably null	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
IGL01743:Aldoa	APN	7	126,395,875 (GRCm39)	missense	probably damaging	0.97
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

Predicted Primers

PCR Primer
(F):5'- TTGGCAAAGTCGGCTCCATC -3'
(R):5'- GAAGTGAAAAGGTTTTCTCAGTGTGC -3'

Sequencing Primer
(F):5'- AAAGTCGGCTCCATCCTTCTTATAC -3'
(R):5'- AGTAGCACCAGGTCCCTCTAGTC -3'

Posted On

2019-05-15