Mutagenetix > Incidental Mutation

Incidental Mutation 'R8921:Akr1b1'

679245

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

068707-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.349) question?

Stock #

R8921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34280865-34294424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34289639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 57 (V57E)

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: V57E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100045
Gene: ENSMUSG00000001642
AA Change: V57E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154655
AA Change: V80E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000114391
Gene: ENSMUSG00000001642
AA Change: V80E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,844,933 (GRCm39)	E52V	probably benign	Het
4930516K23Rik	G	A	7: 103,708,083 (GRCm39)	T242M	probably damaging	Het
Abcg5	T	A	17: 84,990,253 (GRCm39)	I17F	probably benign	Het
Adam25	T	A	8: 41,207,710 (GRCm39)	Y325*	probably null	Het
Adamts16	C	T	13: 70,939,910 (GRCm39)		probably benign	Het
Api5	A	G	2: 94,255,374 (GRCm39)	L267P	probably damaging	Het
Asap3	T	C	4: 135,963,726 (GRCm39)	Y329H	probably benign	Het
Atp13a4	C	T	16: 29,273,592 (GRCm39)	R442K		Het
Cadps2	T	C	6: 23,302,300 (GRCm39)	D1129G	probably benign	Het
Cd79b	T	A	11: 106,203,632 (GRCm39)	Q145L	probably benign	Het
Cdh23	C	T	10: 60,140,908 (GRCm39)	E3147K	probably damaging	Het
Cfap251	A	G	5: 123,424,481 (GRCm39)	D722G	possibly damaging	Het
Col4a4	A	G	1: 82,431,533 (GRCm39)	W1584R	unknown	Het
Cops8	T	C	1: 90,532,155 (GRCm39)	L46P	probably damaging	Het
Cpne1	T	C	2: 155,913,965 (GRCm39)	Y146C	probably benign	Het
Ctdnep1	T	A	11: 69,875,311 (GRCm39)	V80E	probably damaging	Het
Cttnbp2	A	G	6: 18,434,877 (GRCm39)	I327T	probably benign	Het
Cyp4a32	T	C	4: 115,468,460 (GRCm39)	V314A	probably damaging	Het
Dlgap3	C	A	4: 127,127,463 (GRCm39)	H710Q	probably damaging	Het
Dnah9	T	C	11: 65,802,747 (GRCm39)	M3448V	probably benign	Het
E030018B13Rik	C	A	7: 63,569,727 (GRCm39)	Q84K	unknown	Het
Efna5	A	G	17: 63,188,053 (GRCm39)	S25P	possibly damaging	Het
Egfl8	T	G	17: 34,833,751 (GRCm39)	T76P	probably damaging	Het
Endod1	A	G	9: 14,268,942 (GRCm39)	L181P	probably damaging	Het
Epha3	A	G	16: 63,472,838 (GRCm39)	L349P	possibly damaging	Het
Fam161b	T	A	12: 84,395,056 (GRCm39)	T553S	probably benign	Het
Fmnl1	T	C	11: 103,087,967 (GRCm39)	F981L	unknown	Het
Galr2	T	A	11: 116,173,973 (GRCm39)	V201E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Greb1l	T	C	18: 10,541,825 (GRCm39)	S1191P	probably benign	Het
Hmg20b	T	C	10: 81,184,821 (GRCm39)	R84G	probably damaging	Het
Inppl1	T	C	7: 101,472,593 (GRCm39)	D1234G	possibly damaging	Het
Insl5	A	G	4: 102,883,760 (GRCm39)	S54P	probably damaging	Het
Itpr1	T	A	6: 108,355,159 (GRCm39)	F483L	possibly damaging	Het
Kif21a	T	C	15: 90,855,930 (GRCm39)	E609G	probably benign	Het
Kpna7	A	T	5: 144,941,840 (GRCm39)	V150D	probably damaging	Het
L1td1	T	A	4: 98,622,175 (GRCm39)	C246S	possibly damaging	Het
Laptm4a	T	A	12: 8,988,139 (GRCm39)	M292K	possibly damaging	Het
Lefty2	C	G	1: 180,725,043 (GRCm39)	P258A	possibly damaging	Het
Map4k1	G	A	7: 28,701,052 (GRCm39)	V719M	probably damaging	Het
Nbas	T	A	12: 13,463,590 (GRCm39)	H1292Q	probably benign	Het
Nfkbia	C	T	12: 55,537,340 (GRCm39)	G250S	probably damaging	Het
Nkain3	T	C	4: 20,245,902 (GRCm39)	T163A	unknown	Het
Npcd	T	C	15: 79,713,163 (GRCm39)	E88G	probably benign	Het
Oas1f	A	T	5: 120,989,556 (GRCm39)	Y165F	probably benign	Het
Or10d4	T	A	9: 39,580,737 (GRCm39)	L128*	probably null	Het
Or51aa5	A	G	7: 103,167,030 (GRCm39)	I187T	possibly damaging	Het
Or52e2	T	C	7: 102,804,660 (GRCm39)	D98G	probably benign	Het
Phtf2	T	C	5: 21,008,275 (GRCm39)	I135M	probably benign	Het
Pi4ka	T	C	16: 17,125,604 (GRCm39)	E1177G		Het
Polr3gl	A	T	3: 96,485,833 (GRCm39)	D214E	probably damaging	Het
Pramel25	C	T	4: 143,519,322 (GRCm39)	Q28*	probably null	Het
Pramel51	T	C	12: 88,143,952 (GRCm39)	E295G	probably benign	Het
Prkar1a	C	A	11: 109,556,744 (GRCm39)	Q275K	probably benign	Het
Ptprc	A	G	1: 138,054,039 (GRCm39)		probably null	Het
Pwwp2a	C	A	11: 43,596,344 (GRCm39)	P503Q	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,570,065 (GRCm39)	L1146S	probably benign	Het
Rara	C	A	11: 98,864,452 (GRCm39)	Q460K	unknown	Het
Rassf4	C	T	6: 116,638,897 (GRCm39)		probably benign	Het
Rere	A	G	4: 150,696,471 (GRCm39)	D492G	unknown	Het
Selenon	T	G	4: 134,268,153 (GRCm39)	K460T	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc35e1	T	C	8: 73,241,988 (GRCm39)	T245A	probably benign	Het
Stat4	C	T	1: 52,144,892 (GRCm39)	A726V	probably benign	Het
Stim1	G	T	7: 102,070,597 (GRCm39)	V277L	probably damaging	Het
Strbp	A	G	2: 37,514,503 (GRCm39)		probably null	Het
Tln2	T	C	9: 67,174,105 (GRCm39)	Y860C	probably damaging	Het
Tmod4	T	A	3: 95,033,289 (GRCm39)		probably null	Het
Tpm3-rs7	T	C	14: 113,552,493 (GRCm39)	V129A	probably benign	Het
Trp53bp2	C	T	1: 182,273,971 (GRCm39)	P41S		Het
Tubal3	G	A	13: 3,983,428 (GRCm39)	D403N	probably damaging	Het
Zfp369	T	C	13: 65,444,044 (GRCm39)	S396P	possibly damaging	Het
Zfp976	G	A	7: 42,262,575 (GRCm39)	H422Y	possibly 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
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
R9802:Akr1b1	UTSW	6	34,283,508 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GAGTTACATTGGCAGACAAGC -3'
(R):5'- ATGCATGTTGTGTCATGGCC -3'

Sequencing Primer
(F):5'- GCAGACAAGCCACAGGTC -3'
(R):5'- GCATGTTGTGTCATGGCCTAACC -3'

Posted On

2021-08-02