Mutagenetix > Incidental Mutation

Incidental Mutation 'R9333:Aldoart1'

711150

Institutional Source

Beutler Lab

Gene Symbol

Aldoart1

Ensembl Gene

ENSMUSG00000059343

Gene Name

aldolase 1 A, retrogene 1

Synonyms

Aldoa-ps2, Aldo1-ps2, 4921524E03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R9333 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72768820-72770871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72770367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 147 (R147H)

Ref Sequence

ENSEMBL: ENSMUSP00000077687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078617] [ENSMUST00000179234]

AlphaFold

A6ZI46

Predicted Effect

probably benign
Transcript: ENSMUST00000078617
AA Change: R147H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000077687
Gene: ENSMUSG00000059343
AA Change: R147H

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	70	419	1.6e-190	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179234
AA Change: R92H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000136908
Gene: ENSMUSG00000059343
AA Change: R92H

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	364	6.6e-176	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	G	T	4: 123,754,416 (GRCm39)	G110V	probably benign	Het
Abraxas1	T	C	5: 100,959,939 (GRCm39)	S138G	probably damaging	Het
Arfgef1	C	A	1: 10,222,037 (GRCm39)	E1556*	probably null	Het
Arhgap39	C	T	15: 76,619,325 (GRCm39)	R753H	probably damaging	Het
Asb2	G	A	12: 103,311,955 (GRCm39)	Q56*	probably null	Het
Atp8b3	T	C	10: 80,360,180 (GRCm39)	I964V	probably benign	Het
Baiap3	C	A	17: 25,467,676 (GRCm39)	R338L	possibly damaging	Het
Clcn4	T	A	7: 7,292,192 (GRCm39)	M540L	probably damaging	Het
Crbn	T	C	6: 106,776,984 (GRCm39)	H12R	probably benign	Het
D6Wsu163e	A	G	6: 126,952,096 (GRCm39)	Y530C	probably damaging	Het
Dolpp1	T	A	2: 30,287,140 (GRCm39)	F191I	probably damaging	Het
Fam217a	T	C	13: 35,100,876 (GRCm39)	T94A	probably benign	Het
Fanci	T	C	7: 79,067,594 (GRCm39)	W347R	possibly damaging	Het
Fbxo39	A	T	11: 72,208,349 (GRCm39)	N234Y	probably damaging	Het
Fbxo4	A	G	15: 3,998,502 (GRCm39)	S319P	probably benign	Het
Gm14403	A	G	2: 177,200,919 (GRCm39)	N46S	probably benign	Het
Grm2	C	A	9: 106,525,416 (GRCm39)	R433L	possibly damaging	Het
Gtf2i	C	T	5: 134,271,840 (GRCm39)	D855N	probably benign	Het
Hcn2	T	A	10: 79,561,991 (GRCm39)	M329K	possibly damaging	Het
Hsd3b3	T	C	3: 98,649,216 (GRCm39)	D369G	probably benign	Het
Kctd12	T	C	14: 103,219,054 (GRCm39)	K275E	probably damaging	Het
Klra4	T	A	6: 130,021,080 (GRCm39)	K238N	probably damaging	Het
Kremen2	T	A	17: 23,962,775 (GRCm39)	T104S	probably damaging	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Mageb3	A	T	2: 121,784,973 (GRCm39)	V243E	probably damaging	Het
Mfsd10	A	G	5: 34,792,427 (GRCm39)	V258A	probably damaging	Het
Myh10	A	C	11: 68,680,980 (GRCm39)	Q1007P	probably benign	Het
Ndufaf5	A	G	2: 140,035,513 (GRCm39)	E243G	probably benign	Het
Or2ag16	T	C	7: 106,351,782 (GRCm39)	D271G	probably damaging	Het
Orm3	T	C	4: 63,274,528 (GRCm39)	I31T	probably damaging	Het
Pgm2	C	A	5: 64,263,100 (GRCm39)	T249K	probably benign	Het
Prcp	T	C	7: 92,577,894 (GRCm39)	Y388H	probably damaging	Het
Prmt3	T	G	7: 49,456,308 (GRCm39)	I306M	probably damaging	Het
Rag2	A	T	2: 101,460,752 (GRCm39)	D354V	probably benign	Het
Reep1	A	G	6: 71,772,198 (GRCm39)	D162G	probably damaging	Het
Rnpep	A	T	1: 135,191,862 (GRCm39)	W575R	probably damaging	Het
Rpl28	T	C	7: 4,796,079 (GRCm39)		probably benign	Het
Ryr1	A	C	7: 28,774,214 (GRCm39)		probably null	Het
Spg11	G	A	2: 121,932,244 (GRCm39)	R533C	probably damaging	Het
Tcf7l2	C	A	19: 55,919,928 (GRCm39)	S487*	probably null	Het
Usp39	T	C	6: 72,314,710 (GRCm39)	N232S	probably benign	Het
Vmn2r26	C	T	6: 124,003,009 (GRCm39)	P140S	probably benign	Het
Vmn2r34	C	T	7: 7,675,367 (GRCm39)	V674I	probably benign	Het

Other mutations in Aldoart1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02499:Aldoart1	APN	4	72,770,476 (GRCm39)	missense	possibly damaging	0.79
IGL03067:Aldoart1	APN	4	72,770,194 (GRCm39)	missense	possibly damaging	0.46
IGL03273:Aldoart1	APN	4	72,770,346 (GRCm39)	missense	probably benign	0.20
IGL03493:Aldoart1	APN	4	72,769,884 (GRCm39)	missense	probably damaging	0.98
R0145:Aldoart1	UTSW	4	72,769,576 (GRCm39)	missense	probably benign	0.06
R0478:Aldoart1	UTSW	4	72,770,580 (GRCm39)	missense	probably benign
R1770:Aldoart1	UTSW	4	72,770,173 (GRCm39)	missense	probably benign	0.00
R2044:Aldoart1	UTSW	4	72,770,779 (GRCm39)	missense	probably benign	0.00
R4627:Aldoart1	UTSW	4	72,770,680 (GRCm39)	missense	probably benign
R5344:Aldoart1	UTSW	4	72,770,352 (GRCm39)	missense	possibly damaging	0.95
R5867:Aldoart1	UTSW	4	72,770,770 (GRCm39)	missense	probably benign	0.00
R6234:Aldoart1	UTSW	4	72,770,409 (GRCm39)	missense	probably damaging	1.00
R7431:Aldoart1	UTSW	4	72,769,678 (GRCm39)	nonsense	probably null
R7672:Aldoart1	UTSW	4	72,770,747 (GRCm39)	missense	probably benign
R7847:Aldoart1	UTSW	4	72,770,193 (GRCm39)	missense	probably damaging	1.00
R9259:Aldoart1	UTSW	4	72,770,680 (GRCm39)	missense	probably benign
R9572:Aldoart1	UTSW	4	72,770,770 (GRCm39)	missense	probably benign	0.00
Z1176:Aldoart1	UTSW	4	72,770,241 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTCTCCATGATGGCAAGGGG -3'
(R):5'- ATGAGTCCATTGGAAGCATGGG -3'

Sequencing Primer
(F):5'- GGAGTATGTTTCCCAATCTTTAGCAC -3'
(R):5'- TCCATTGGAAGCATGGGCAATC -3'

Posted On

2022-05-16