Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Akr1c6'

288128

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

4484354-4507529 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4488496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 34 (C34F)

Ref Sequence

ENSEMBL: ENSMUSP00000117624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021630] [ENSMUST00000156277] [ENSMUST00000220941]

AlphaFold

P70694

Predicted Effect

probably benign
Transcript: ENSMUST00000021630
AA Change: C87F

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
AA Change: C87F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128695

Predicted Effect

probably benign
Transcript: ENSMUST00000156277
AA Change: C34F

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117624
Gene: ENSMUSG00000021210
AA Change: C34F

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	1	173	3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220941

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,561,838 (GRCm39)	F116S	probably damaging	Het
Abhd18	G	A	3: 40,884,662 (GRCm39)		probably null	Het
Ankef1	T	A	2: 136,386,695 (GRCm39)	I180N	possibly damaging	Het
Ap1b1	G	A	11: 4,969,294 (GRCm39)	V217I	probably benign	Het
Arhgap27	T	C	11: 103,223,989 (GRCm39)	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,170,627 (GRCm39)	T1136A	probably benign	Het
Ascc3	T	A	10: 50,604,250 (GRCm39)	Y1323*	probably null	Het
Bsx	A	C	9: 40,785,517 (GRCm39)	Q15P	probably benign	Het
Cdh20	A	G	1: 104,881,764 (GRCm39)	I410V	probably null	Het
Cfhr4	T	A	1: 139,708,835 (GRCm39)	E24D	probably benign	Het
Col20a1	A	G	2: 180,648,952 (GRCm39)	D945G	probably damaging	Het
Cox20	A	G	1: 178,150,043 (GRCm39)		probably null	Het
Cplane1	A	G	15: 8,204,509 (GRCm39)	K96E	probably damaging	Het
Cpne9	A	G	6: 113,270,699 (GRCm39)	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,439,444 (GRCm39)	T33A	probably benign	Het
Dvl3	A	G	16: 20,342,493 (GRCm39)	R149G	possibly damaging	Het
Dysf	A	G	6: 84,163,446 (GRCm39)	I1624V	possibly damaging	Het
Echs1	A	T	7: 139,691,623 (GRCm39)	L167Q	probably damaging	Het
Ect2	A	T	3: 27,192,868 (GRCm39)	N358K	probably benign	Het
Eml4	A	G	17: 83,748,795 (GRCm39)	I230V	probably benign	Het
Fut10	A	G	8: 31,726,286 (GRCm39)	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,299,483 (GRCm39)	N401K	probably damaging	Het
Gm4795	C	T	10: 44,882,735 (GRCm39)		noncoding transcript	Het
Gm5592	C	A	7: 40,936,212 (GRCm39)	T238N	probably benign	Het
Gm9892	T	C	8: 52,649,260 (GRCm39)		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388 (GRCm39)	M134I	possibly damaging	Het
Grk3	A	G	5: 113,085,669 (GRCm39)	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,368,669 (GRCm39)	I215T	probably damaging	Het
Ilkap	A	G	1: 91,312,960 (GRCm39)		probably null	Het
Inpp4a	T	C	1: 37,407,384 (GRCm39)	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Lmo7	C	T	14: 102,137,502 (GRCm39)		probably benign	Het
Luc7l3	C	T	11: 94,183,819 (GRCm39)	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,205,515 (GRCm39)	I219S	probably benign	Het
Myo9b	G	A	8: 71,806,768 (GRCm39)	E1581K	probably damaging	Het
Nfs1	T	A	2: 155,966,191 (GRCm39)	Q458L	probably damaging	Het
Numb	A	T	12: 83,878,692 (GRCm39)		probably null	Het
Nxf1	G	A	19: 8,741,514 (GRCm39)		probably null	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or52z1	A	G	7: 103,437,475 (GRCm39)	V3A	probably benign	Het
Pacc1	A	G	1: 191,080,605 (GRCm39)	E275G	possibly damaging	Het
Pde2a	A	T	7: 101,152,550 (GRCm39)	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 110,666,505 (GRCm39)	L1011F	probably benign	Het
Potefam3e	T	C	8: 19,797,815 (GRCm39)		probably null	Het
Prss27	G	T	17: 24,264,571 (GRCm39)	V245L	probably benign	Het
Rbm7	T	C	9: 48,405,411 (GRCm39)	N56S	probably damaging	Het
Rftn1	T	C	17: 50,343,998 (GRCm39)	I97V	possibly damaging	Het
Ric3	T	C	7: 108,647,287 (GRCm39)	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323 (GRCm39)		probably benign	Het
Sall2	T	C	14: 52,553,022 (GRCm39)	T56A	probably damaging	Het
Sgk1	T	C	10: 21,871,440 (GRCm39)	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,050,223 (GRCm39)	A281T	probably damaging	Het
Spta1	A	G	1: 174,002,029 (GRCm39)	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,900,092 (GRCm39)	D468G	probably damaging	Het
Tmem108	A	T	9: 103,376,981 (GRCm39)	V156E	probably benign	Het
Tnfaip3	T	G	10: 18,880,215 (GRCm39)	R617S	probably benign	Het
Traf3	A	G	12: 111,204,031 (GRCm39)	M7V	probably benign	Het
Ubr3	T	A	2: 69,809,741 (GRCm39)	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,718,795 (GRCm39)	V716A	probably benign	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
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
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

Posted On

2015-04-16