Mutagenetix > Incidental Mutation

Incidental Mutation 'R7251:Akr1c6'

563944

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

045313-MU

Accession Numbers

Essential gene?

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

Stock #

R7251 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

4484354-4507529 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4497019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 154 (C154S)

Ref Sequence

ENSEMBL: ENSMUSP00000021630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021630] [ENSMUST00000156277] [ENSMUST00000220941] [ENSMUST00000223118]

AlphaFold

P70694

Predicted Effect

probably damaging
Transcript: ENSMUST00000021630
AA Change: C154S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
AA Change: C154S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156277
AA Change: C101S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117624
Gene: ENSMUSG00000021210
AA Change: C101S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220941

Predicted Effect

probably benign
Transcript: ENSMUST00000223118

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (66/68)

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
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adamts19	A	T	18: 58,970,974 (GRCm39)	D186V	probably damaging	Het
Agrn	T	C	4: 156,259,063 (GRCm39)	D884G	probably damaging	Het
Apob	T	C	12: 8,057,037 (GRCm39)	Y1840H	probably damaging	Het
Arfgef1	T	C	1: 10,269,200 (GRCm39)	E399G	possibly damaging	Het
Arg2	G	A	12: 79,197,572 (GRCm39)	G197S	probably damaging	Het
Arhgap32	T	C	9: 32,119,481 (GRCm39)	V308A	probably damaging	Het
Atcay	A	T	10: 81,046,366 (GRCm39)	C319*	probably null	Het
Bend4	C	G	5: 67,584,876 (GRCm39)	R16P	unknown	Het
Braf	A	G	6: 39,654,504 (GRCm39)		probably null	Het
Camsap1	T	C	2: 25,828,898 (GRCm39)	E942G	probably damaging	Het
Cdpf1	C	T	15: 85,693,494 (GRCm39)	G11D	probably damaging	Het
Cgn	T	C	3: 94,683,509 (GRCm39)	E382G	possibly damaging	Het
Cndp1	T	A	18: 84,640,322 (GRCm39)	E294D	probably benign	Het
Cnn1	T	A	9: 22,019,513 (GRCm39)	Y294N	unknown	Het
Cyp2ab1	A	G	16: 20,134,646 (GRCm39)	F104S	possibly damaging	Het
Cyp2t4	G	A	7: 26,857,144 (GRCm39)	V336M	possibly damaging	Het
D430041D05Rik	T	A	2: 104,051,511 (GRCm39)	D782V	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dgkb	T	C	12: 38,031,985 (GRCm39)	S16P	possibly damaging	Het
Dll4	T	C	2: 119,162,773 (GRCm39)	C465R	probably damaging	Het
Dsp	A	G	13: 38,377,524 (GRCm39)	I1770V	probably benign	Het
Fbxw11	A	G	11: 32,681,370 (GRCm39)	N250S	probably benign	Het
Fsip2	G	A	2: 82,809,425 (GRCm39)	V1915M	possibly damaging	Het
Greb1l	G	A	18: 10,515,319 (GRCm39)	V704M	probably damaging	Het
Hgf	T	A	5: 16,798,942 (GRCm39)	N323K	possibly damaging	Het
Hhatl	A	T	9: 121,614,116 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,132,813 (GRCm39)	S204P	probably damaging	Het
Igsf10	T	A	3: 59,226,875 (GRCm39)	N2266I	probably damaging	Het
Krtap15-1	A	G	16: 88,625,982 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,408,423 (GRCm39)	D1751G	probably damaging	Het
Madd	A	T	2: 90,992,521 (GRCm39)	D1050E	probably benign	Het
Man1c1	C	T	4: 134,308,147 (GRCm39)	G323R	probably damaging	Het
Mgll	A	G	6: 88,800,357 (GRCm39)	E252G	probably benign	Het
Muc2	A	G	7: 141,278,965 (GRCm39)	N145S	possibly damaging	Het
Ncoa2	C	T	1: 13,218,599 (GRCm39)	S1410N	probably benign	Het
Nek10	A	G	14: 14,853,965 (GRCm38)	T384A	probably benign	Het
Nexn	T	C	3: 151,952,832 (GRCm39)	E310G	probably damaging	Het
Nol10	T	C	12: 17,452,108 (GRCm39)	L354P	probably damaging	Het
Npy4r	T	C	14: 33,868,872 (GRCm39)	R139G	probably damaging	Het
Nup160	A	G	2: 90,530,518 (GRCm39)	E463G	probably damaging	Het
Or14c44	T	C	7: 86,062,209 (GRCm39)	V213A	probably benign	Het
Or52a33	C	T	7: 103,288,909 (GRCm39)	G146D	probably damaging	Het
Or8j3c	G	A	2: 86,253,940 (GRCm39)	L27F	probably benign	Het
Pdzd8	A	T	19: 59,289,077 (GRCm39)	N774K	possibly damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pot1a	T	C	6: 25,752,497 (GRCm39)		probably null	Het
Ppip5k1	T	A	2: 121,178,052 (GRCm39)	E283D	probably benign	Het
Ptpn2	A	C	18: 67,808,862 (GRCm39)	I318R	possibly damaging	Het
Raph1	A	G	1: 60,529,027 (GRCm39)	F745L	unknown	Het
Rgs19	C	T	2: 181,331,541 (GRCm39)	V88I	probably benign	Het
Ripk4	A	G	16: 97,544,449 (GRCm39)	S733P	probably benign	Het
Rprd1b	T	A	2: 157,870,899 (GRCm39)	W29R	probably damaging	Het
Rtkn	A	G	6: 83,112,943 (GRCm39)	N5S	probably damaging	Het
Sh3bp5l	A	T	11: 58,232,128 (GRCm39)	Q131L	probably damaging	Het
Slain2	T	A	5: 73,131,891 (GRCm39)	F461I	possibly damaging	Het
Stk24	A	T	14: 121,545,434 (GRCm39)	L108Q	probably damaging	Het
Syne3	TC	T	12: 104,927,830 (GRCm39)		probably null	Het
Tapbpl	A	T	6: 125,203,558 (GRCm39)	V374E	probably damaging	Het
Tax1bp1	A	G	6: 52,698,341 (GRCm39)	I18V	possibly damaging	Het
Tecta	T	A	9: 42,299,048 (GRCm39)	I233F	probably damaging	Het
Tet3	A	G	6: 83,381,038 (GRCm39)	S377P	probably benign	Het
Uty	A	G	Y: 1,154,262 (GRCm39)	S721P	probably benign	Het
Wnk4	C	A	11: 101,155,979 (GRCm39)	T412K	possibly damaging	Het
Zdhhc11	G	T	13: 74,140,216 (GRCm39)	V336L	probably benign	Het
Zfp605	T	A	5: 110,275,826 (GRCm39)	S315T	probably damaging	Het
Zfp746	A	G	6: 48,041,811 (GRCm39)	L305P	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
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
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'- CGCTCAGGGTCATCTTAATAATCG -3'
(R):5'- TCTGTCAGCTGCAGAGGAAG -3'

Sequencing Primer
(F):5'- ATCTGCATGGAGATGTTAGATCCC -3'
(R):5'- TGTCAGCTGCAGAGGAAGAAAGG -3'

Posted On

2019-06-26