Mutagenetix > Incidental Mutation

Incidental Mutation 'R5452:Akr1c6'

501060

Institutional Source

Beutler Lab

Gene Symbol

Akr1c6

Ensembl Gene

ENSMUSG00000021210

Gene Name

aldo-keto reductase family 1, member C6

Synonyms

estradiol 17-beta-dehydrogenase (A-specific), Hsd17b5, 3alpha-HSD, Akr1c1

MMRRC Submission

042848-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5452 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4484354-4507529 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4504544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 132 (R132G)

Ref Sequence

ENSEMBL: ENSMUSP00000152778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021630] [ENSMUST00000223118]

AlphaFold

P70694

Predicted Effect

probably benign
Transcript: ENSMUST00000021630
AA Change: S310G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
AA Change: S310G

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	2.2e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223118
AA Change: R132G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	T	8: 41,248,801 (GRCm39)	I304F	probably damaging	Het
Adamts5	A	G	16: 85,666,800 (GRCm39)		probably benign	Het
Ash1l	T	A	3: 88,892,183 (GRCm39)	M1354K	possibly damaging	Het
C6	T	C	15: 4,844,311 (GRCm39)	I911T	possibly damaging	Het
Calm2	T	C	17: 87,743,150 (GRCm39)		probably null	Het
Ccdc80	G	A	16: 44,938,528 (GRCm39)	R745Q	probably damaging	Het
Celsr3	T	C	9: 108,721,233 (GRCm39)	I2685T	possibly damaging	Het
Chkb	T	C	15: 89,313,788 (GRCm39)		probably benign	Het
Dennd5b	T	A	6: 148,943,011 (GRCm39)		probably null	Het
Dnah2	T	C	11: 69,415,209 (GRCm39)	Y175C	probably damaging	Het
Dnajc13	A	G	9: 104,069,313 (GRCm39)	S1154P	probably benign	Het
Ephb4	T	C	5: 137,359,404 (GRCm39)	S325P	probably damaging	Het
Fzd9	C	T	5: 135,279,714 (GRCm39)	R57H	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm9949	A	G	18: 62,313,587 (GRCm39)		probably benign	Het
Gnb4	A	T	3: 32,643,994 (GRCm39)	M188K	probably benign	Het
Hr	G	T	14: 70,794,067 (GRCm39)	G109V	probably damaging	Het
Lrp1b	A	G	2: 40,812,328 (GRCm39)	S2426P	probably damaging	Het
Map2k4	A	G	11: 65,610,413 (GRCm39)	W88R	probably damaging	Het
Map4	C	T	9: 109,866,851 (GRCm39)		probably benign	Het
Moxd2	C	T	6: 40,859,048 (GRCm39)		probably null	Het
Mrgprx1	T	C	7: 47,671,556 (GRCm39)	I64V	probably benign	Het
Mtrex	T	C	13: 113,049,715 (GRCm39)	S232G	probably null	Het
Or5p68	A	C	7: 107,945,312 (GRCm39)	I292S	probably damaging	Het
Padi2	T	C	4: 140,659,382 (GRCm39)	F229S	probably benign	Het
Pappa2	T	C	1: 158,666,172 (GRCm39)	N1136S	probably benign	Het
Pcdhb1	A	T	18: 37,398,811 (GRCm39)	N254I	possibly damaging	Het
Plcb2	A	G	2: 118,548,727 (GRCm39)	Y400H	probably damaging	Het
Plce1	A	C	19: 38,608,926 (GRCm39)	T412P	probably benign	Het
Prg4	T	C	1: 150,331,519 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,586,501 (GRCm39)	N2510S	possibly damaging	Het
Psme4	T	A	11: 30,741,168 (GRCm39)	S107T	probably benign	Het
Resf1	C	A	6: 149,230,611 (GRCm39)	S1219*	probably null	Het
Rint1	G	T	5: 23,999,363 (GRCm39)	A51S	probably benign	Het
Rsad1	T	A	11: 94,434,515 (GRCm39)	R306S	probably damaging	Het
Sema3c	T	G	5: 17,922,068 (GRCm39)		probably null	Het
Sirt3	G	A	7: 140,444,928 (GRCm39)	T290I	probably damaging	Het
Spam1	G	A	6: 24,800,731 (GRCm39)	G490D	probably benign	Het
Speer4f2	C	T	5: 17,581,498 (GRCm39)	R147W	possibly damaging	Het
Sppl2c	A	T	11: 104,078,126 (GRCm39)	I309L	probably benign	Het
Srxn1	G	A	2: 151,947,799 (GRCm39)	V66M	probably damaging	Het
St3gal4	C	T	9: 34,964,752 (GRCm39)	R152H	probably damaging	Het
Sv2c	A	T	13: 96,114,591 (GRCm39)	F532I	probably damaging	Het
Tacc1	C	A	8: 25,654,431 (GRCm39)	K705N	probably null	Het
Tekt3	G	T	11: 62,985,619 (GRCm39)	S475I	probably damaging	Het
Tjap1	T	C	17: 46,571,101 (GRCm39)	T139A	probably damaging	Het
Tnfrsf8	T	A	4: 145,019,214 (GRCm39)	K207M	possibly damaging	Het
Tnn	T	C	1: 159,937,831 (GRCm39)	T965A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trmt2a	A	G	16: 18,068,814 (GRCm39)	H270R	probably damaging	Het
Ttc21a	T	C	9: 119,780,037 (GRCm39)	L448P	probably benign	Het
Ttll4	C	A	1: 74,718,480 (GRCm39)	N110K	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Tut7	A	G	13: 59,948,471 (GRCm39)	Y215H	probably damaging	Het
Ubr1	A	G	2: 120,698,783 (GRCm39)	Y1595H	possibly damaging	Het
Unc45a	G	A	7: 79,978,787 (GRCm39)	P621S	probably damaging	Het
Xrn2	A	T	2: 146,866,633 (GRCm39)		probably null	Het

Other mutations in Akr1c6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Akr1c6	APN	13	4,498,977 (GRCm39)	splice site	probably benign
IGL01838:Akr1c6	APN	13	4,499,035 (GRCm39)	missense	probably benign	0.44
IGL02318:Akr1c6	APN	13	4,488,496 (GRCm39)	missense	probably benign	0.05
IGL02986:Akr1c6	APN	13	4,486,414 (GRCm39)	missense	probably benign	0.42
IGL03168:Akr1c6	APN	13	4,486,280 (GRCm39)	missense	probably benign	0.04
IGL03190:Akr1c6	APN	13	4,496,412 (GRCm39)	missense	possibly damaging	0.49
IGL03258:Akr1c6	APN	13	4,486,408 (GRCm39)	missense	probably damaging	1.00
R0940:Akr1c6	UTSW	13	4,486,372 (GRCm39)	missense	probably benign	0.42
R1442:Akr1c6	UTSW	13	4,507,159 (GRCm39)	missense	probably damaging	1.00
R1624:Akr1c6	UTSW	13	4,496,363 (GRCm39)	missense	probably benign
R1937:Akr1c6	UTSW	13	4,496,383 (GRCm39)	missense	probably benign	0.01
R2392:Akr1c6	UTSW	13	4,484,477 (GRCm39)	splice site	probably null
R2398:Akr1c6	UTSW	13	4,499,035 (GRCm39)	missense	probably benign	0.44
R4655:Akr1c6	UTSW	13	4,499,428 (GRCm39)	missense	probably damaging	0.98
R4761:Akr1c6	UTSW	13	4,497,010 (GRCm39)	missense	probably benign	0.01
R4913:Akr1c6	UTSW	13	4,504,524 (GRCm39)	missense	probably benign	0.18
R4923:Akr1c6	UTSW	13	4,504,494 (GRCm39)	missense	probably damaging	1.00
R4953:Akr1c6	UTSW	13	4,488,608 (GRCm39)	splice site	probably null
R5255:Akr1c6	UTSW	13	4,497,018 (GRCm39)	missense	probably benign	0.20
R5660:Akr1c6	UTSW	13	4,499,053 (GRCm39)	missense	probably benign	0.13
R6242:Akr1c6	UTSW	13	4,486,361 (GRCm39)	missense	probably benign	0.01
R6323:Akr1c6	UTSW	13	4,497,017 (GRCm39)	missense	possibly damaging	0.91
R6599:Akr1c6	UTSW	13	4,499,318 (GRCm39)	splice site	probably null
R6847:Akr1c6	UTSW	13	4,488,497 (GRCm39)	nonsense	probably null
R6989:Akr1c6	UTSW	13	4,499,045 (GRCm39)	missense	probably damaging	1.00
R7003:Akr1c6	UTSW	13	4,504,514 (GRCm39)	missense	probably benign	0.14
R7251:Akr1c6	UTSW	13	4,497,019 (GRCm39)	missense	probably damaging	1.00
R7310:Akr1c6	UTSW	13	4,486,354 (GRCm39)	missense	probably benign
R8257:Akr1c6	UTSW	13	4,488,525 (GRCm39)	missense	probably benign	0.00
R8539:Akr1c6	UTSW	13	4,484,474 (GRCm39)	critical splice donor site	probably null
R8705:Akr1c6	UTSW	13	4,484,447 (GRCm39)	missense	probably damaging	1.00
R8791:Akr1c6	UTSW	13	4,499,373 (GRCm39)	missense	probably benign	0.01
R8833:Akr1c6	UTSW	13	4,496,377 (GRCm39)	missense	possibly damaging	0.56
X0062:Akr1c6	UTSW	13	4,488,534 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCTGTACCATTTAGTGTGATGCA -3'
(R):5'- GACGCAGATACTCACAGCAA -3'

Sequencing Primer
(F):5'- GTGTGATGCATTTGTAACAGACAGAC -3'
(R):5'- GCCTTCCCAGGACTAAGTTAG -3'

Posted On

2017-12-01