Mutagenetix > Incidental Mutation

Incidental Mutation 'R0611:Akr1b1'

54707

Institutional Source

Beutler Lab

Gene Symbol

Akr1b1

Ensembl Gene

ENSMUSG00000001642

Gene Name

aldo-keto reductase family 1 member B

Synonyms

Aldr1, Ahr1, AR, Ahr-1, Akr1b3, ALR2, Aldor1

MMRRC Submission

038800-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.379) question?

Stock #

R0611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34280865-34294424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34286577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 225 (D225E)

Ref Sequence

ENSEMBL: ENSMUSP00000100045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102980] [ENSMUST00000154655]

AlphaFold

P45376

Predicted Effect

probably benign
Transcript: ENSMUST00000102980
AA Change: D225E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100045
Gene: ENSMUSG00000001642
AA Change: D225E

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	13	294	4.1e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142761

Predicted Effect

probably benign
Transcript: ENSMUST00000154655

SMART Domains

Protein: ENSMUSP00000114391
Gene: ENSMUSG00000001642

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	15	176	9.2e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201392

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 94.9%

Validation Efficiency

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 catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased drinking, increased urination, and dilation of the renal tubules. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,851,479 (GRCm39)	M819K	possibly damaging	Het
Adamtsl3	T	G	7: 82,178,120 (GRCm39)	C528G	probably damaging	Het
Akap9	A	G	5: 4,004,870 (GRCm39)	K148E	probably benign	Het
Alms1	C	A	6: 85,655,653 (GRCm39)	Q2931K	possibly damaging	Het
Ano3	T	C	2: 110,715,346 (GRCm39)	K31E	possibly damaging	Het
Cdc37	A	G	9: 21,053,537 (GRCm39)	I242T	probably damaging	Het
Celsr1	T	A	15: 85,816,524 (GRCm39)	K1806N	possibly damaging	Het
Clpb	T	A	7: 101,436,956 (GRCm39)	I707N	possibly damaging	Het
Cntnap2	A	T	6: 47,072,483 (GRCm39)	Y1017F	possibly damaging	Het
Creb3l2	A	T	6: 37,311,416 (GRCm39)	S458T	probably benign	Het
Ctnnd2	C	A	15: 31,009,230 (GRCm39)	T1109K	possibly damaging	Het
Dcaf10	T	A	4: 45,373,011 (GRCm39)	L425Q	probably damaging	Het
Dlec1	A	G	9: 118,941,167 (GRCm39)	E239G	probably benign	Het
Dnah2	T	C	11: 69,390,020 (GRCm39)	K742E	probably damaging	Het
Dsp	A	T	13: 38,371,717 (GRCm39)	R889S	probably damaging	Het
Dync1h1	T	A	12: 110,599,222 (GRCm39)	M1859K	probably damaging	Het
Efcab7	T	A	4: 99,758,886 (GRCm39)	N361K	probably damaging	Het
Eps8l2	T	C	7: 140,935,646 (GRCm39)	V139A	probably damaging	Het
Fads3	T	G	19: 10,019,200 (GRCm39)	H35Q	probably damaging	Het
Fam163b	C	A	2: 27,003,583 (GRCm39)	V24F	probably damaging	Het
Gm14496	A	T	2: 181,636,904 (GRCm39)	T121S	probably benign	Het
Gm4799	C	T	10: 82,790,563 (GRCm39)		noncoding transcript	Het
Gm7168	A	T	17: 14,169,797 (GRCm39)	D388V	probably benign	Het
Gmeb1	A	T	4: 131,953,386 (GRCm39)	L460*	probably null	Het
Gpc6	T	G	14: 118,212,430 (GRCm39)	F534V	probably null	Het
Hectd3	A	G	4: 116,853,241 (GRCm39)	D156G	possibly damaging	Het
Itga6	T	C	2: 71,650,404 (GRCm39)	I150T	possibly damaging	Het
Kansl1	A	G	11: 104,229,012 (GRCm39)	M863T	probably benign	Het
Kcnb2	A	T	1: 15,780,664 (GRCm39)	Y512F	probably benign	Het
Klhdc2	A	T	12: 69,347,053 (GRCm39)	M73L	probably benign	Het
Ktn1	A	G	14: 47,932,073 (GRCm39)	T667A	probably benign	Het
Lgsn	A	C	1: 31,242,736 (GRCm39)	I273L	probably benign	Het
Lilra5	A	G	7: 4,245,232 (GRCm39)	D292G	probably benign	Het
Mrps27	C	T	13: 99,541,582 (GRCm39)	R229C	probably damaging	Het
Muc5b	T	G	7: 141,416,173 (GRCm39)	S3040A	probably benign	Het
Nat14	T	C	7: 4,926,275 (GRCm39)	S7P	probably damaging	Het
Nfia	A	G	4: 97,671,694 (GRCm39)	I135V	possibly damaging	Het
Nkd1	G	A	8: 89,248,944 (GRCm39)	A30T	probably damaging	Het
Nup205	A	G	6: 35,202,903 (GRCm39)	D1370G	probably null	Het
Or1j15	C	G	2: 36,459,568 (GRCm39)		probably null	Het
Or4k15c	G	A	14: 50,321,310 (GRCm39)	T276I	probably damaging	Het
Or51k2	T	C	7: 103,596,400 (GRCm39)	L209P	probably damaging	Het
Or5p79	T	A	7: 108,221,494 (GRCm39)	N158K	possibly damaging	Het
Or8s10	T	C	15: 98,336,168 (GRCm39)	S273P	possibly damaging	Het
Orc1	C	T	4: 108,459,229 (GRCm39)	A466V	probably benign	Het
Otud7a	T	A	7: 63,385,638 (GRCm39)	D367E	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,263 (GRCm39)	Y191C	probably damaging	Het
Pclo	T	C	5: 14,762,828 (GRCm39)	V3767A	unknown	Het
Pclo	T	C	5: 14,728,789 (GRCm39)		probably benign	Het
Prmt1	A	T	7: 44,628,225 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,842,483 (GRCm39)	F62S	probably damaging	Het
Rangrf	T	C	11: 68,863,518 (GRCm39)	S163G	probably benign	Het
Rgs12	C	A	5: 35,176,804 (GRCm39)	A65E	probably damaging	Het
Rrbp1	T	C	2: 143,830,436 (GRCm39)	N577S	probably damaging	Het
Septin11	A	G	5: 93,315,393 (GRCm39)	H374R	probably damaging	Het
Serpina5	T	G	12: 104,070,046 (GRCm39)	N314K	probably benign	Het
Sgce	T	C	6: 4,689,621 (GRCm39)	D395G	probably damaging	Het
Slc26a9	A	T	1: 131,690,499 (GRCm39)	N501I	probably damaging	Het
Slc9c1	A	G	16: 45,401,965 (GRCm39)	D784G	possibly damaging	Het
Snapc2	A	G	8: 4,305,676 (GRCm39)	D207G	probably benign	Het
Stard9	G	T	2: 120,529,738 (GRCm39)	M1998I	probably benign	Het
Stk38	A	C	17: 29,194,907 (GRCm39)	F280V	possibly damaging	Het
Tas2r126	A	G	6: 42,412,025 (GRCm39)	K186R	probably damaging	Het
Tdp1	A	C	12: 99,875,970 (GRCm39)	D307A	probably benign	Het
Tead2	A	G	7: 44,866,674 (GRCm39)	D11G	probably damaging	Het
Tmco4	C	A	4: 138,747,383 (GRCm39)	L211I	probably damaging	Het
Tmem183a	A	G	1: 134,280,115 (GRCm39)	F255S	probably damaging	Het
Tmem87a	C	T	2: 120,205,929 (GRCm39)	G349S	possibly damaging	Het
Tpte	G	A	8: 22,826,549 (GRCm39)	E377K	possibly damaging	Het
Trim32	T	C	4: 65,531,893 (GRCm39)	F150S	possibly damaging	Het
Trpc7	T	A	13: 57,035,636 (GRCm39)	K99M	probably damaging	Het
Ttc22	A	G	4: 106,491,381 (GRCm39)	K195E	probably damaging	Het
Txn2	G	A	15: 77,811,917 (GRCm39)	P7S	probably damaging	Het
Ubxn2a	G	A	12: 4,930,700 (GRCm39)	T220I	probably damaging	Het
Ufd1	A	G	16: 18,633,626 (GRCm39)	N17S	possibly damaging	Het
Unc13a	A	G	8: 72,102,509 (GRCm39)	S958P	probably damaging	Het
Vmn1r202	T	A	13: 22,685,824 (GRCm39)	M198L	probably damaging	Het
Vmn2r84	G	A	10: 130,221,991 (GRCm39)	A743V	probably damaging	Het
Washc5	A	G	15: 59,213,007 (GRCm39)	F891S	probably damaging	Het
Zfp708	T	C	13: 67,218,375 (GRCm39)	T495A	probably benign	Het
Zfp81	A	G	17: 33,553,593 (GRCm39)	I407T	probably benign	Het
Zswim5	T	C	4: 116,843,874 (GRCm39)		probably null	Het

Other mutations in Akr1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02806:Akr1b1	APN	6	34,281,254 (GRCm39)	missense	probably damaging	1.00
R0567:Akr1b1	UTSW	6	34,281,280 (GRCm39)	splice site	probably null
R1564:Akr1b1	UTSW	6	34,283,470 (GRCm39)	splice site	probably null
R2445:Akr1b1	UTSW	6	34,287,869 (GRCm39)	missense	probably benign	0.26
R2507:Akr1b1	UTSW	6	34,286,999 (GRCm39)	missense	probably damaging	1.00
R4323:Akr1b1	UTSW	6	34,287,862 (GRCm39)	missense	probably benign	0.00
R4373:Akr1b1	UTSW	6	34,281,202 (GRCm39)	utr 3 prime	probably benign
R4606:Akr1b1	UTSW	6	34,283,599 (GRCm39)	unclassified	probably benign
R5513:Akr1b1	UTSW	6	34,293,581 (GRCm39)	intron	probably benign
R6031:Akr1b1	UTSW	6	34,289,609 (GRCm39)	missense	probably benign	0.07
R6031:Akr1b1	UTSW	6	34,289,609 (GRCm39)	missense	probably benign	0.07
R6560:Akr1b1	UTSW	6	34,286,939 (GRCm39)	missense	possibly damaging	0.56
R6561:Akr1b1	UTSW	6	34,286,939 (GRCm39)	missense	possibly damaging	0.56
R6632:Akr1b1	UTSW	6	34,286,939 (GRCm39)	missense	possibly damaging	0.56
R6654:Akr1b1	UTSW	6	34,286,939 (GRCm39)	missense	possibly damaging	0.56
R6655:Akr1b1	UTSW	6	34,286,939 (GRCm39)	missense	possibly damaging	0.56
R6657:Akr1b1	UTSW	6	34,286,939 (GRCm39)	missense	possibly damaging	0.56
R6658:Akr1b1	UTSW	6	34,286,939 (GRCm39)	missense	possibly damaging	0.56
R6662:Akr1b1	UTSW	6	34,286,939 (GRCm39)	missense	possibly damaging	0.56
R8209:Akr1b1	UTSW	6	34,288,867 (GRCm39)	missense	probably damaging	0.99
R8226:Akr1b1	UTSW	6	34,288,867 (GRCm39)	missense	probably damaging	0.99
R8921:Akr1b1	UTSW	6	34,289,639 (GRCm39)	missense	probably benign	0.00
R9802:Akr1b1	UTSW	6	34,283,508 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- ACAGGCACTTTTATGCCAAGACCAC -3'
(R):5'- GGCTCACGGTTGGAGGTTAGAAATC -3'

Sequencing Primer
(F):5'- ATTGCATTCTAGGGCTCCAAAC -3'
(R):5'- ACAGAGAACACTTCTGTGCTG -3'

Posted On

2013-07-11