Mutagenetix > Incidental Mutation

Incidental Mutation 'R5744:Aldoart2'

445728

Institutional Source

Beutler Lab

Gene Symbol

Aldoart2

Ensembl Gene

ENSMUSG00000063129

Gene Name

aldolase 1 A, retrogene 2

Synonyms

Aldo1-ps1, Aldoa-ps1, 4933425L11Rik

MMRRC Submission

043197-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R5744 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55612024-55613681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55612131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 19 (I19V)

Ref Sequence

ENSEMBL: ENSMUSP00000079022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080123]

AlphaFold

A6ZI47

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080123
AA Change: I19V

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079022
Gene: ENSMUSG00000063129
AA Change: I19V

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	364	2.3e-191	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	T	C	10: 50,586,977 (GRCm39)	I943T	probably benign	Het
Btaf1	T	C	19: 36,981,890 (GRCm39)	V1640A	probably benign	Het
Cep250	T	C	2: 155,823,394 (GRCm39)	F1015S	possibly damaging	Het
Cgnl1	G	T	9: 71,537,957 (GRCm39)		probably null	Het
Csgalnact2	C	T	6: 118,103,197 (GRCm39)	G255E	probably damaging	Het
Ctla2a	C	T	13: 61,083,767 (GRCm39)		probably null	Het
Dip2c	A	T	13: 9,618,441 (GRCm39)	I497F	probably damaging	Het
Eif3f	C	A	7: 108,537,624 (GRCm39)	T179K	probably damaging	Het
Frem2	A	G	3: 53,563,380 (GRCm39)	F376L	probably damaging	Het
Gemin4	A	T	11: 76,102,991 (GRCm39)	F590Y	probably damaging	Het
Gemin5	C	A	11: 58,046,009 (GRCm39)	C433F	possibly damaging	Het
Gm7694	C	T	1: 170,130,075 (GRCm39)		probably null	Het
Gpr158	G	A	2: 21,373,331 (GRCm39)	G89R	probably damaging	Het
Herc1	C	T	9: 66,415,475 (GRCm39)	P4817S	probably damaging	Het
Hs6st3	T	C	14: 119,375,852 (GRCm39)	L9P	possibly damaging	Het
Igdcc3	TGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGC	9: 65,048,770 (GRCm39)		probably benign	Het
Il1rap	A	C	16: 26,498,974 (GRCm39)	I158L	probably benign	Het
Itpr2	A	G	6: 146,277,649 (GRCm39)	S640P	probably damaging	Het
Metrn	A	G	17: 26,014,211 (GRCm39)	V205A	probably damaging	Het
Mfhas1	C	A	8: 36,056,636 (GRCm39)	D370E	probably damaging	Het
Mn1	T	C	5: 111,568,402 (GRCm39)	S791P	possibly damaging	Het
Mtmr3	A	G	11: 4,437,679 (GRCm39)	V925A	possibly damaging	Het
Neil1	T	C	9: 57,051,485 (GRCm39)	T278A	probably damaging	Het
Nol8	A	G	13: 49,815,802 (GRCm39)	N619D	possibly damaging	Het
Nup214	T	C	2: 31,900,308 (GRCm39)	L879P	probably damaging	Het
Or2l5	A	G	16: 19,334,086 (GRCm39)	I100T	probably benign	Het
Or7a37	T	C	10: 78,806,017 (GRCm39)	F178S	probably damaging	Het
Or9k2	T	C	10: 129,998,661 (GRCm39)	D178G	possibly damaging	Het
Plxna1	C	T	6: 89,311,664 (GRCm39)	R947Q	possibly damaging	Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Reln	A	C	5: 22,311,081 (GRCm39)	S277R	probably null	Het
Sel1l	A	T	12: 91,776,754 (GRCm39)	I746N	possibly damaging	Het
Slc2a8	C	T	2: 32,866,040 (GRCm39)	D291N	probably benign	Het
Slc7a5	T	C	8: 122,615,121 (GRCm39)	N242S	probably benign	Het
Smco3	T	C	6: 136,808,763 (GRCm39)	N37S	probably damaging	Het
Sult1c2	T	A	17: 54,280,990 (GRCm39)	K38*	probably null	Het
Tfap2b	T	C	1: 19,289,445 (GRCm39)	M190T	probably benign	Het
Tnpo2	T	A	8: 85,778,523 (GRCm39)	Y623*	probably null	Het
Tomm70a	G	T	16: 56,942,202 (GRCm39)		probably benign	Het
Ttyh2	T	C	11: 114,593,136 (GRCm39)		probably null	Het
Zbtb10	A	G	3: 9,329,623 (GRCm39)	Y327C	probably damaging	Het

Other mutations in Aldoart2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Aldoart2	APN	12	55,612,920 (GRCm39)	missense	probably benign
IGL01432:Aldoart2	APN	12	55,612,566 (GRCm39)	missense	probably damaging	1.00
IGL02306:Aldoart2	APN	12	55,612,489 (GRCm39)	missense	probably damaging	1.00
R0068:Aldoart2	UTSW	12	55,612,233 (GRCm39)	nonsense	probably null
R0068:Aldoart2	UTSW	12	55,612,233 (GRCm39)	nonsense	probably null
R1511:Aldoart2	UTSW	12	55,613,062 (GRCm39)	missense	probably benign	0.32
R1604:Aldoart2	UTSW	12	55,612,405 (GRCm39)	missense	probably damaging	1.00
R1622:Aldoart2	UTSW	12	55,612,696 (GRCm39)	missense	probably benign	0.12
R3729:Aldoart2	UTSW	12	55,613,104 (GRCm39)	missense	probably damaging	1.00
R4881:Aldoart2	UTSW	12	55,612,899 (GRCm39)	missense	probably damaging	1.00
R4946:Aldoart2	UTSW	12	55,612,801 (GRCm39)	missense	probably benign	0.00
R4995:Aldoart2	UTSW	12	55,613,038 (GRCm39)	missense	probably benign
R5215:Aldoart2	UTSW	12	55,612,204 (GRCm39)	missense	probably benign	0.25
R5407:Aldoart2	UTSW	12	55,612,981 (GRCm39)	missense	probably damaging	1.00
R5729:Aldoart2	UTSW	12	55,612,690 (GRCm39)	missense	probably benign	0.41
R7609:Aldoart2	UTSW	12	55,612,833 (GRCm39)	missense	probably benign	0.30
R8052:Aldoart2	UTSW	12	55,612,536 (GRCm39)	missense	probably damaging	0.99
R8076:Aldoart2	UTSW	12	55,612,696 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CCTCTGAGTAGGTTGCGTTC -3'
(R):5'- ATGGAAGAGGATCACACCCC -3'

Sequencing Primer
(F):5'- CGCCACAGAAACAGGTTCTAG -3'
(R):5'- CCAATGCAGGGATTCACACGG -3'

Posted On

2016-11-21