Mutagenetix > Incidental Mutation

Incidental Mutation 'R4373:Akr1b1'

326060

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

041675-MU

Accession Numbers

Essential gene?

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

Stock #

R4373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34280865-34294424 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to C at 34281202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100045 (fasta)

Gene Model

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

AlphaFold

P45376

Predicted Effect

probably benign
Transcript: ENSMUST00000102980

SMART Domains

Protein: ENSMUSP00000100045
Gene: ENSMUSG00000001642

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201392

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (54/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,478,535 (GRCm39)		probably benign	Het
Armh4	T	A	14: 50,007,893 (GRCm39)	T527S	probably damaging	Het
Asns	A	T	6: 7,677,978 (GRCm39)	S367T	probably damaging	Het
BC034090	T	C	1: 155,101,904 (GRCm39)	N120S	probably benign	Het
Bub1	A	T	2: 127,647,156 (GRCm39)		probably benign	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Ctsz	T	C	2: 174,270,378 (GRCm39)	E268G	possibly damaging	Het
Dach1	G	A	14: 98,065,186 (GRCm39)	T685I	possibly damaging	Het
Dclre1a	A	G	19: 56,533,874 (GRCm39)	L240S	probably benign	Het
Ercc1	G	A	7: 19,081,057 (GRCm39)		probably benign	Het
Esam	C	T	9: 37,445,492 (GRCm39)	T71I	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Gde1	A	G	7: 118,297,781 (GRCm39)	L35P	possibly damaging	Het
Gm10382	A	G	5: 125,466,647 (GRCm39)		probably benign	Het
H2-M10.6	T	C	17: 37,123,958 (GRCm39)	Y141H	probably damaging	Het
Hk1	C	A	10: 62,151,319 (GRCm39)	K10N	probably damaging	Het
Lamc3	A	G	2: 31,788,244 (GRCm39)	K135E	probably damaging	Het
Lrtm2	A	G	6: 119,297,489 (GRCm39)	F184S	probably damaging	Het
Marchf11	A	G	15: 26,309,532 (GRCm39)	E62G	probably damaging	Het
Mtcl1	T	A	17: 66,687,074 (GRCm39)	T611S	probably benign	Het
Myc	A	T	15: 61,861,513 (GRCm39)	H373L	probably damaging	Het
Myh6	T	A	14: 55,199,565 (GRCm39)	I249F	probably damaging	Het
Naaa	T	C	5: 92,426,002 (GRCm39)		probably benign	Het
Nfib	A	G	4: 82,241,895 (GRCm39)	V432A	probably damaging	Het
Nmt1	A	G	11: 102,934,026 (GRCm39)	K55R	probably damaging	Het
Opa3	C	T	7: 18,978,699 (GRCm39)	R55W	probably damaging	Het
Or4c122	T	C	2: 89,079,589 (GRCm39)	R150G	possibly damaging	Het
Pfn4	T	A	12: 4,820,182 (GRCm39)	D10E	probably damaging	Het
Pld5	T	A	1: 175,967,583 (GRCm39)	I91F	probably damaging	Het
Plec	A	C	15: 76,067,317 (GRCm39)	S1350A	probably damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,685 (GRCm39)	Y537H	probably damaging	Het
Prdm8	T	C	5: 98,334,367 (GRCm39)	S645P	probably damaging	Het
Rgs1	T	C	1: 144,123,644 (GRCm39)	T94A	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Sanbr	A	T	11: 23,565,265 (GRCm39)		probably null	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Sgsm1	TTTTATATT	TTT	5: 113,405,989 (GRCm39)		probably benign	Het
Sirpb1b	A	T	3: 15,613,821 (GRCm39)	I87K	probably damaging	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Stat4	T	C	1: 52,111,100 (GRCm39)		probably null	Het
Tex9	A	T	9: 72,387,877 (GRCm39)		probably null	Het
Tsku	T	C	7: 98,002,038 (GRCm39)	T98A	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn2r116	A	C	17: 23,620,395 (GRCm39)	I710L	probably benign	Het
Vmn2r16	A	T	5: 109,511,667 (GRCm39)	I625F	probably damaging	Het
Xpo4	G	A	14: 57,828,479 (GRCm39)	Q794*	probably null	Het
Zfp112	T	A	7: 23,824,473 (GRCm39)	I147N	probably damaging	Het
Zmiz1	T	C	14: 25,636,434 (GRCm39)	S140P	probably damaging	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
R0611:Akr1b1	UTSW	6	34,286,577 (GRCm39)	missense	probably benign	0.02
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
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'- TGTTAAAGTCCTCCAGGTGGG -3'
(R):5'- CTGGCTCAGTTCACAATGAGAC -3'

Sequencing Primer
(F):5'- TCCTCCAGGTGGGTAAGAAG -3'
(R):5'- CCTGAGGATGAACAGGGTTCTATCC -3'

Posted On

2015-07-06