Mutagenetix > Incidental Mutation

Incidental Mutation 'R0068:Aldoart2'

16459

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

038359-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R0068 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

55612024-55613681 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 55612233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 53 (E53*)

Ref Sequence

ENSEMBL: ENSMUSP00000079022 (fasta)

Gene Model

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

AlphaFold

A6ZI47

Predicted Effect

probably null
Transcript: ENSMUST00000080123
AA Change: E53*

SMART Domains

Protein: ENSMUSP00000079022
Gene: ENSMUSG00000063129
AA Change: E53*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 89.9%
3x: 97.6%
10x: 82.1%
20x: 74.0%

Validation Efficiency

94% (83/88)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,036,405 (GRCm39)	N568S	probably damaging	Het
Ankra2	C	T	13: 98,409,891 (GRCm39)	Q137*	probably null	Het
Arpc1a	C	T	5: 145,028,054 (GRCm39)	T21I	possibly damaging	Het
Arvcf	T	C	16: 18,214,819 (GRCm39)		probably benign	Het
Ash1l	C	A	3: 88,914,624 (GRCm39)	S1751R	probably benign	Het
Bltp1	A	G	3: 37,006,370 (GRCm39)	T1675A	probably benign	Het
Bsn	C	A	9: 107,989,336 (GRCm39)	G2139C	probably damaging	Het
Cbl	A	T	9: 44,065,491 (GRCm39)	S22T	probably damaging	Het
Ccdc148	T	C	2: 58,717,629 (GRCm39)	E530G	probably benign	Het
Cct3	A	G	3: 88,225,772 (GRCm39)	D365G	probably benign	Het
Cep85	A	T	4: 133,881,606 (GRCm39)	H332Q	probably benign	Het
Cwf19l1	A	T	19: 44,119,938 (GRCm39)	Y68N	probably damaging	Het
Dlc1	T	A	8: 37,404,875 (GRCm39)	M305L	probably benign	Het
Dnm1l	C	A	16: 16,141,883 (GRCm39)	G288C	probably damaging	Het
Exoc7	T	C	11: 116,195,732 (GRCm39)	Y83C	probably damaging	Het
Fignl2	A	T	15: 100,952,129 (GRCm39)	I51N	probably damaging	Het
Flnb	A	G	14: 7,915,290 (GRCm38)	N1474D	possibly damaging	Het
Ghrhr	C	T	6: 55,357,849 (GRCm39)		probably benign	Het
Gucy1b1	T	C	3: 81,942,185 (GRCm39)	T525A	probably benign	Het
Hhip	T	G	8: 80,715,885 (GRCm39)	D557A	probably damaging	Het
Hps5	A	G	7: 46,426,466 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,238,045 (GRCm39)	V712D	probably damaging	Het
Irf6	G	T	1: 192,848,067 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,323,034 (GRCm39)		probably benign	Het
Jag2	A	G	12: 112,878,813 (GRCm39)		probably benign	Het
Kansl1l	A	G	1: 66,760,047 (GRCm39)	V911A	probably benign	Het
Kdm3b	C	T	18: 34,957,827 (GRCm39)	T1064I	probably benign	Het
Lrriq1	T	A	10: 102,899,279 (GRCm39)	Q1654L	probably benign	Het
Ltbp1	A	G	17: 75,666,404 (GRCm39)	T1366A	probably damaging	Het
Mroh1	A	G	15: 76,330,892 (GRCm39)		probably benign	Het
Napb	G	A	2: 148,540,843 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,439,782 (GRCm39)	R164*	probably null	Het
Npc1	G	C	18: 12,341,424 (GRCm39)	P532A	probably benign	Het
Nrp2	G	T	1: 62,784,536 (GRCm39)	K228N	possibly damaging	Het
Or13f5	T	A	4: 52,825,503 (GRCm39)	Y35*	probably null	Het
Plekhg1	A	T	10: 3,890,502 (GRCm39)	Y386F	probably damaging	Het
Pmfbp1	G	C	8: 110,269,011 (GRCm39)		probably benign	Het
Poln	T	C	5: 34,234,432 (GRCm39)		probably benign	Het
Polr1c	A	G	17: 46,555,829 (GRCm39)	V200A	probably benign	Het
Ppil1	A	T	17: 29,471,230 (GRCm39)	F92I	probably damaging	Het
Ptchd3	T	G	11: 121,733,798 (GRCm39)	L896R	probably damaging	Het
Rev3l	A	G	10: 39,700,827 (GRCm39)	N1775D	possibly damaging	Het
Robo4	G	A	9: 37,315,773 (GRCm39)	R342Q	probably benign	Het
Rusc2	T	C	4: 43,424,100 (GRCm39)		probably benign	Het
S100pbp	T	C	4: 129,038,249 (GRCm39)		probably benign	Het
Slc25a48	T	C	13: 56,599,024 (GRCm39)	V118A	probably damaging	Het
Slc38a10	T	C	11: 120,025,679 (GRCm39)	D219G	probably damaging	Het
Slc38a2	C	T	15: 96,589,173 (GRCm39)		probably null	Het
Slc39a12	A	G	2: 14,440,489 (GRCm39)	E480G	probably benign	Het
Tab2	C	A	10: 7,795,441 (GRCm39)	R347L	probably damaging	Het
Tas2r123	T	C	6: 132,824,955 (GRCm39)	I284T	possibly damaging	Het
Tex9	A	G	9: 72,394,051 (GRCm39)		probably benign	Het
Tifab	A	G	13: 56,324,218 (GRCm39)	L75P	probably damaging	Het
Tmc5	T	A	7: 118,233,460 (GRCm39)	D91E	probably benign	Het
Tnks1bp1	T	A	2: 84,892,696 (GRCm39)	D212E	probably benign	Het
Ugcg	A	G	4: 59,217,130 (GRCm39)	D218G	probably benign	Het
Zfp451	A	T	1: 33,816,706 (GRCm39)	L198I	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
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
R5744:Aldoart2	UTSW	12	55,612,131 (GRCm39)	missense	possibly damaging	0.52
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

Protein Function and Prediction

Aldoart2 arose by retrotransposition in the rodent lineage (prior to the divergence of rat and mouse) after the primate-rodent split (1). The Aldoart2 transcript and the ALDOART2 protein were detected in round spermatids (1). The function of ALDOART2 is unknown.

References

1. Vemuganti, S. A., Bell, T. A., Scarlett, C. O., Parker, C. E., de Villena, F. P., and O'Brien, D. A. (2007) Three Male Germline-Specific Aldolase A Isozymes are Generated by Alternative Splicing and Retrotransposition. Dev Biol. 309, 18-31.

Posted On

2013-01-20

Science Writer

Anne Murray