Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:Akr1c6'

161557

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

039497-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4484354-4507529 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4507159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 314 (H314L)

Ref Sequence

ENSEMBL: ENSMUSP00000021630 (fasta)

Gene Model

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

AlphaFold

P70694

Predicted Effect

probably damaging
Transcript: ENSMUST00000021630
AA Change: H314L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
AA Change: H314L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223118

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,833 (GRCm39)		probably benign	Het
Adamts7	T	A	9: 90,070,823 (GRCm39)	I648N	probably damaging	Het
Akap13	T	A	7: 75,385,526 (GRCm39)	F2252I	probably damaging	Het
Anxa3	T	A	5: 96,976,549 (GRCm39)		probably null	Het
Apob	T	G	12: 8,036,165 (GRCm39)	F298V	probably benign	Het
Atp8a2	A	C	14: 60,097,772 (GRCm39)		probably benign	Het
Atp8b5	A	T	4: 43,334,313 (GRCm39)	T360S	probably damaging	Het
BC051665	A	T	13: 60,932,555 (GRCm39)	N43K	probably benign	Het
Bicral	T	A	17: 47,112,650 (GRCm39)	H850L	probably benign	Het
C1qtnf1	A	G	11: 118,339,011 (GRCm39)	D227G	probably damaging	Het
C8a	T	A	4: 104,685,275 (GRCm39)	T323S	possibly damaging	Het
Cep89	T	C	7: 35,117,636 (GRCm39)		probably benign	Het
Cercam	G	T	2: 29,770,652 (GRCm39)	V408L	probably benign	Het
CN725425	G	A	15: 91,123,158 (GRCm39)	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,532,835 (GRCm39)	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,865 (GRCm39)		probably null	Het
Dab2ip	A	T	2: 35,600,268 (GRCm39)	I287F	probably damaging	Het
Defb10	A	T	8: 22,348,944 (GRCm39)	M1L	probably benign	Het
Dscam	C	A	16: 96,409,274 (GRCm39)	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,595,717 (GRCm39)	I640N	possibly damaging	Het
Duox2	G	C	2: 122,112,232 (GRCm39)	P1318R	probably benign	Het
Dzip3	T	C	16: 48,765,985 (GRCm39)	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,824,462 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,102,652 (GRCm39)	L80P	probably damaging	Het
Eif2b2	T	C	12: 85,266,360 (GRCm39)	S9P	probably benign	Het
Etaa1	A	T	11: 17,897,201 (GRCm39)	D305E	probably benign	Het
Fads6	C	A	11: 115,188,235 (GRCm39)	R23L	probably benign	Het
Flrt2	T	C	12: 95,746,979 (GRCm39)	V439A	probably damaging	Het
Galm	A	C	17: 80,452,614 (GRCm39)	Q184P	probably damaging	Het
Gtse1	C	T	15: 85,744,303 (GRCm39)		probably benign	Het
Irf7	T	C	7: 140,843,935 (GRCm39)	T246A	probably damaging	Het
Kif28	A	G	1: 179,532,697 (GRCm39)	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,385 (GRCm39)	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,059,469 (GRCm39)	H252R	probably benign	Het
Lzts1	G	T	8: 69,591,638 (GRCm39)	A170E	probably damaging	Het
Mphosph9	T	A	5: 124,403,461 (GRCm39)	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,160,075 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myh3	A	G	11: 66,978,103 (GRCm39)	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,262,328 (GRCm39)		probably benign	Het
Npc1	T	A	18: 12,328,106 (GRCm39)	M1068L	probably benign	Het
Nup58	T	A	14: 60,469,992 (GRCm39)		probably benign	Het
Or10c1	T	C	17: 37,522,595 (GRCm39)	T50A	probably benign	Het
Or4k40	A	T	2: 111,250,438 (GRCm39)	I286N	probably damaging	Het
Or8b1	A	T	9: 38,399,939 (GRCm39)	I205F	probably benign	Het
Or8s16	T	C	15: 98,211,068 (GRCm39)	Y121C	probably damaging	Het
Parp2	T	G	14: 51,056,732 (GRCm39)		probably null	Het
Ppp4r4	T	C	12: 103,564,504 (GRCm39)	V9A	probably damaging	Het
Ptprc	T	A	1: 138,000,050 (GRCm39)	D856V	probably damaging	Het
Ptpru	T	A	4: 131,535,580 (GRCm39)	T466S	probably benign	Het
Rhob	A	G	12: 8,549,325 (GRCm39)	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,378,510 (GRCm39)	S775R	probably benign	Het
Slit2	T	G	5: 48,395,725 (GRCm39)	D709E	probably damaging	Het
Smok2b	C	G	17: 13,454,390 (GRCm39)	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,648,780 (GRCm39)	D158V	probably damaging	Het
Syne2	T	C	12: 75,993,489 (GRCm39)	I2087T	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tecta	T	A	9: 42,243,778 (GRCm39)	I2025F	probably damaging	Het
Themis	T	C	10: 28,658,131 (GRCm39)	V386A	probably damaging	Het
Ubr5	G	A	15: 38,015,168 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,033,446 (GRCm39)	I134N	probably damaging	Het
Vegfa	G	A	17: 46,336,418 (GRCm39)	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,692,623 (GRCm39)	K78*	probably null	Het
Vmn2r82	A	T	10: 79,215,201 (GRCm39)	T395S	probably benign	Het
Wbp2nl	T	C	15: 82,198,407 (GRCm39)	S315P	probably benign	Het
Zfp566	T	C	7: 29,777,344 (GRCm39)	Y279C	probably damaging	Het
Zmym2	T	C	14: 57,180,784 (GRCm39)	Y899H	probably damaging	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
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
R5452:Akr1c6	UTSW	13	4,504,544 (GRCm39)	missense	probably benign	0.00
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'- GTCCCAGGAAAGGCAGCATGATATG -3'
(R):5'- CCTTCCAAGATGCACATGGCTCAG -3'

Sequencing Primer
(F):5'- AAGGCAGCATGATATGAATTTAGG -3'
(R):5'- GCACATGGCTCAGGATAAGTTG -3'

Posted On

2014-03-14