Mutagenetix > Incidental Mutation

Incidental Mutation 'R4653:Akr1a1'

351463

Institutional Source

Beutler Lab

Gene Symbol

Akr1a1

Ensembl Gene

ENSMUSG00000028692

Gene Name

aldo-keto reductase family 1, member A1

Synonyms

Akr1a4, 2610201A18Rik

MMRRC Submission

041913-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.471) question?

Stock #

R4653 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116493707-116508871 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 116495156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114861 (fasta)

Gene Model

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

AlphaFold

Q9JII6

Predicted Effect

probably benign
Transcript: ENSMUST00000030455

SMART Domains

Protein: ENSMUSP00000030455
Gene: ENSMUSG00000028692

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128010

Predicted Effect

probably benign
Transcript: ENSMUST00000128059

SMART Domains

Protein: ENSMUSP00000114861
Gene: ENSMUSG00000028692

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (66/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,264 (GRCm39)	T351A	probably benign	Het
3930402G23Rik	A	T	8: 10,976,075 (GRCm39)		noncoding transcript	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,932,230 (GRCm39)	E295*	probably null	Het
Abi3	T	C	11: 95,723,637 (GRCm39)	I215V	probably benign	Het
Adhfe1	G	T	1: 9,620,803 (GRCm39)		probably benign	Het
Ank	T	A	15: 27,590,447 (GRCm39)	W344R	probably null	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Ccdc39	A	G	3: 33,873,955 (GRCm39)		probably null	Het
Cd180	T	A	13: 102,841,416 (GRCm39)	L154H	probably damaging	Het
Cnp	A	T	11: 100,467,342 (GRCm39)	D95V	probably benign	Het
Cul1	T	C	6: 47,461,897 (GRCm39)	I20T	probably damaging	Het
Dnah6	T	C	6: 73,050,440 (GRCm39)	K3042R	possibly damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dpys	C	A	15: 39,656,642 (GRCm39)	R475L	probably damaging	Het
Dync1i2	A	G	2: 71,078,199 (GRCm39)	N276S	probably damaging	Het
Ext2	T	C	2: 93,526,504 (GRCm39)	S711G	probably benign	Het
Fancm	A	G	12: 65,129,828 (GRCm39)	Y223C	probably damaging	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Garin5b	T	C	7: 4,761,054 (GRCm39)	R553G	possibly damaging	Het
Gcat	T	C	15: 78,919,487 (GRCm39)	S151P	probably damaging	Het
Gcm2	A	T	13: 41,256,317 (GRCm39)	D477E	probably benign	Het
Git1	A	G	11: 77,395,869 (GRCm39)	N468S	possibly damaging	Het
Gtf3c1	T	C	7: 125,273,272 (GRCm39)	I622V	probably benign	Het
Hsd17b13	G	A	5: 104,113,702 (GRCm39)	L251F	probably damaging	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Ly9	G	T	1: 171,421,597 (GRCm39)	H441Q	probably benign	Het
Mtcl2	A	G	2: 156,882,511 (GRCm39)	F514L	probably damaging	Het
Myo15b	G	A	11: 115,770,813 (GRCm39)		probably null	Het
Nomo1	G	T	7: 45,711,237 (GRCm39)	A639S	probably benign	Het
P3h2	T	C	16: 25,924,027 (GRCm39)	D136G	probably damaging	Het
Pde4dip	A	T	3: 97,674,654 (GRCm39)	D87E	probably damaging	Het
Pdpk1	A	T	17: 24,325,871 (GRCm39)	D108E	probably benign	Het
Pex26	C	T	6: 121,167,084 (GRCm39)	S231L	probably damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Ryr3	T	A	2: 112,483,108 (GRCm39)	N4213I	probably damaging	Het
Slc7a14	A	G	3: 31,311,831 (GRCm39)	V63A	probably damaging	Het
Sppl2a	C	T	2: 126,762,233 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,455,580 (GRCm39)	W3077R	probably damaging	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Sv2a	T	C	3: 96,098,078 (GRCm39)		probably null	Het
Themis2	A	G	4: 132,510,287 (GRCm39)	S638P	probably benign	Het
Trabd	A	G	15: 88,970,042 (GRCm39)	Y346C	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trmt1l	G	A	1: 151,315,320 (GRCm39)	V16I	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Usp13	A	T	3: 32,892,073 (GRCm39)	Q84L	probably damaging	Het
Vmn1r172	G	T	7: 23,359,997 (GRCm39)	G294V	probably damaging	Het
Vmn2r59	A	T	7: 41,693,228 (GRCm39)	H457Q	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vps8	T	C	16: 21,318,960 (GRCm39)	Y602H	probably damaging	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	possibly 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
R5377:Akr1a1	UTSW	4	116,497,092 (GRCm39)	missense	probably damaging	1.00
R7386:Akr1a1	UTSW	4	116,498,251 (GRCm39)	missense	probably damaging	0.98
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'- CCTTACCGTAATCATGGGCAC -3'
(R):5'- TACCATGGGTCATCTTGCCTAG -3'

Sequencing Primer
(F):5'- GGGCACAATATACCGCCAATTTTTG -3'
(R):5'- TTGCCTAGTCCTCTGAGGCG -3'

Posted On

2015-10-08