Mutagenetix > Incidental Mutation

Incidental Mutation 'R7386:Akr1a1'

573083

Institutional Source

Beutler Lab

Gene Symbol

Akr1a1

Ensembl Gene

ENSMUSG00000028692

Gene Name

aldo-keto reductase family 1, member A1

Synonyms

Akr1a4, 2610201A18Rik

MMRRC Submission

045468-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.477) question?

Stock #

R7386 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116493707-116508871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116498251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 98 (T98I)

Ref Sequence

ENSEMBL: ENSMUSP00000030455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030455] [ENSMUST00000128059]

AlphaFold

Q9JII6

PDB Structure

High resolution structure of mouse aldehyde reductase (AKR1a4) in its apo-form [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030455
AA Change: T98I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030455
Gene: ENSMUSG00000028692
AA Change: T98I

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	16	294	1.4e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128059
AA Change: T98I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114861
Gene: ENSMUSG00000028692
AA Change: T98I

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	16	204	3.7e-43	PFAM

Meta Mutation Damage Score

0.5932

Coding Region Coverage

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

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased osteoporosis in response to pregnancy or castration in the absence of dietary ascorbate. Mice homozygous for a knock-out allele exhibit reduced asorbic acid levels and DL-glyceraldehyde, glucuronolactone and glucuronate reductase activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	A	T	18: 69,083,208 (GRCm39)	M2K	unknown	Het
Ablim3	T	C	18: 61,955,065 (GRCm39)	D308G	probably damaging	Het
Adamts17	A	T	7: 66,618,597 (GRCm39)	K370N	probably benign	Het
Adcy4	T	C	14: 56,015,784 (GRCm39)	Y435C	probably damaging	Het
Adgb	A	T	10: 10,253,693 (GRCm39)	F1216I	possibly damaging	Het
Alyref2	G	T	1: 171,331,101 (GRCm39)		probably benign	Het
Ank3	T	A	10: 69,658,079 (GRCm39)	H168Q	unknown	Het
Bnc1	A	C	7: 81,624,240 (GRCm39)	L329R	possibly damaging	Het
Btaf1	G	A	19: 36,935,782 (GRCm39)	A191T	probably benign	Het
Carmil3	T	G	14: 55,735,204 (GRCm39)		probably null	Het
Cd200r1	C	A	16: 44,610,211 (GRCm39)	D143E	probably benign	Het
Cep112	A	G	11: 108,699,507 (GRCm39)	H98R	probably benign	Het
Cmya5	T	A	13: 93,205,831 (GRCm39)	Q3346L	probably damaging	Het
Cpne4	T	A	9: 104,749,939 (GRCm39)	V81E	possibly damaging	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Ctsj	A	T	13: 61,148,373 (GRCm39)	M307K	possibly damaging	Het
Ddhd2	G	T	8: 26,244,318 (GRCm39)	R103S	possibly damaging	Het
Depdc5	A	G	5: 33,085,280 (GRCm39)	T700A	probably benign	Het
Dhx57	A	C	17: 80,575,006 (GRCm39)	D657E	possibly damaging	Het
Dmbt1	G	A	7: 130,713,965 (GRCm39)	G1678S	unknown	Het
Dnajb1	A	G	8: 84,336,932 (GRCm39)	D234G	probably benign	Het
Dsc2	C	T	18: 20,174,983 (GRCm39)	V431M	possibly damaging	Het
Evi5	C	A	5: 107,957,689 (GRCm39)		probably null	Het
Exoc2	T	C	13: 31,090,646 (GRCm39)		probably null	Het
Foxo3	T	C	10: 42,073,356 (GRCm39)	D387G	probably benign	Het
Gda	A	G	19: 21,387,250 (GRCm39)	I325T	probably benign	Het
Iqgap1	A	G	7: 80,375,790 (GRCm39)	S1362P	probably damaging	Het
Klf10	G	T	15: 38,297,193 (GRCm39)	N282K	possibly damaging	Het
Mettl13	A	G	1: 162,375,723 (GRCm39)	Y35H	probably damaging	Het
Mill2	A	G	7: 18,592,215 (GRCm39)	T279A	probably benign	Het
Ncaph2	G	A	15: 89,254,459 (GRCm39)	W386*	probably null	Het
Nploc4	A	T	11: 120,299,707 (GRCm39)	S338T	probably benign	Het
Nrip1	T	C	16: 76,090,775 (GRCm39)	S261G	probably damaging	Het
Or2y16	T	C	11: 49,335,227 (GRCm39)	F183S	possibly damaging	Het
Or5al1	A	G	2: 85,989,874 (GRCm39)	V280A	possibly damaging	Het
Or7a38	T	A	10: 78,752,677 (GRCm39)	M1K	probably null	Het
Palld	A	G	8: 61,985,086 (GRCm39)	F1060L	unknown	Het
Pfas	C	G	11: 68,894,600 (GRCm39)	V22L	probably benign	Het
Pygo2	T	G	3: 89,340,128 (GRCm39)	F175L	probably benign	Het
Rnf2	T	C	1: 151,347,131 (GRCm39)	E316G	probably damaging	Het
Rtn4	T	A	11: 29,657,772 (GRCm39)	M642K	probably damaging	Het
Saa3	A	G	7: 46,364,347 (GRCm39)	C60R	unknown	Het
Saxo5	A	G	8: 3,537,079 (GRCm39)	K475R	probably benign	Het
Scap	A	G	9: 110,202,237 (GRCm39)	T202A	probably benign	Het
Scn9a	T	A	2: 66,370,894 (GRCm39)	D562V	probably damaging	Het
Slc6a19	A	T	13: 73,838,010 (GRCm39)	V163E	possibly damaging	Het
Smc5	G	A	19: 23,192,539 (GRCm39)	H850Y	possibly damaging	Het
Spef1l	A	T	7: 139,555,965 (GRCm39)	C225*	probably null	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Sulf1	T	C	1: 12,908,585 (GRCm39)	Y533H	probably benign	Het
Thbs2	A	G	17: 14,893,412 (GRCm39)	S923P	possibly damaging	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tmem132c	A	G	5: 127,640,990 (GRCm39)	K1054E	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnrc6c	T	A	11: 117,612,780 (GRCm39)	C313S	probably benign	Het
Top6bl	G	A	19: 4,713,586 (GRCm39)	R285*	probably null	Het
Tpm1	T	C	9: 66,935,449 (GRCm39)	I284M	probably benign	Het
Trpm4	A	T	7: 44,964,064 (GRCm39)	L722H	possibly damaging	Het
Trub2	T	G	2: 29,676,607 (GRCm39)	Q41P	probably benign	Het
Usp17le	A	C	7: 104,417,514 (GRCm39)		probably null	Het
Zfp398	G	A	6: 47,835,884 (GRCm39)	V148I	probably benign	Het
Zfp40	T	C	17: 23,395,981 (GRCm39)	E202G	probably damaging	Het
Zfp618	T	A	4: 63,013,622 (GRCm39)		probably null	Het
Zfp667	T	A	7: 6,308,949 (GRCm39)	I539N	possibly damaging	Het
Zfp738	A	T	13: 67,818,369 (GRCm39)	C541S	probably damaging	Het

Other mutations in Akr1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02927:Akr1a1	APN	4	116,495,180 (GRCm39)	missense	probably damaging	1.00
IGL03176:Akr1a1	APN	4	116,496,272 (GRCm39)	missense	probably damaging	1.00
IGL03265:Akr1a1	APN	4	116,495,014 (GRCm39)	missense	probably benign	0.42
R0480:Akr1a1	UTSW	4	116,497,044 (GRCm39)	missense	possibly damaging	0.84
R0972:Akr1a1	UTSW	4	116,497,204 (GRCm39)	critical splice acceptor site	probably null
R1649:Akr1a1	UTSW	4	116,495,217 (GRCm39)	missense	probably damaging	1.00
R1711:Akr1a1	UTSW	4	116,495,171 (GRCm39)	critical splice donor site	probably null
R1727:Akr1a1	UTSW	4	116,498,248 (GRCm39)	missense	probably damaging	1.00
R1822:Akr1a1	UTSW	4	116,493,850 (GRCm39)	missense	probably benign	0.13
R4653:Akr1a1	UTSW	4	116,495,156 (GRCm39)	unclassified	probably benign
R5377:Akr1a1	UTSW	4	116,497,092 (GRCm39)	missense	probably damaging	1.00
R7458:Akr1a1	UTSW	4	116,495,014 (GRCm39)	missense	possibly damaging	0.61
R8253:Akr1a1	UTSW	4	116,493,840 (GRCm39)	missense	probably damaging	0.98
R8888:Akr1a1	UTSW	4	116,498,260 (GRCm39)	missense	probably damaging	1.00
R8895:Akr1a1	UTSW	4	116,498,260 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCATGGTAAGGAACTGC -3'
(R):5'- TTGCCTTGGGTCACATTCCG -3'

Sequencing Primer
(F):5'- AGGAACTGCCTCTGCTTGC -3'
(R):5'- GAGGCACACTTTTTCTCTCAGAGG -3'

Posted On

2019-09-13