Mutagenetix > Incidental Mutation

Incidental Mutation 'R0963:Akr1d1'

81362

Institutional Source

Beutler Lab

Gene Symbol

Akr1d1

Ensembl Gene

ENSMUSG00000038641

Gene Name

aldo-keto reductase family 1, member D1

Synonyms

MMRRC Submission

039092-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0963 (G1)

Quality Score

163

Status

Not validated

Chromosome

Chromosomal Location

37507108-37545750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37507209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 10 (I10M)

Ref Sequence

ENSEMBL: ENSMUSP00000048830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040987]

AlphaFold

Q8VCX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000040987
AA Change: I10M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048830
Gene: ENSMUSG00000038641
AA Change: I10M

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	20	303	2.7e-49	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.1%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,722,451 (GRCm39)	D369G	probably damaging	Het
Adcy7	T	C	8: 89,038,893 (GRCm39)	V303A	probably damaging	Het
Afap1l1	A	T	18: 61,870,001 (GRCm39)	Y610N	probably damaging	Het
Agr3	T	A	12: 35,984,433 (GRCm39)	H53Q	probably benign	Het
Atp4b	G	T	8: 13,440,014 (GRCm39)	H111N	probably benign	Het
Bbs7	G	T	3: 36,667,412 (GRCm39)	A8E	probably benign	Het
Bsn	C	T	9: 107,989,006 (GRCm39)	V2249M	possibly damaging	Het
Cpt1a	T	C	19: 3,431,634 (GRCm39)	S685P	probably damaging	Het
Dhx57	A	T	17: 80,582,956 (GRCm39)	H163Q	probably benign	Het
Duox2	A	C	2: 122,117,653 (GRCm39)	C894G	probably benign	Het
Ecm1	T	C	3: 95,643,900 (GRCm39)	T209A	possibly damaging	Het
Glo1	T	C	17: 30,819,085 (GRCm39)	N79S	probably benign	Het
Htra1	T	A	7: 130,584,009 (GRCm39)	M388K	possibly damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Jag2	C	T	12: 112,878,934 (GRCm39)	E496K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Khdc1c	A	G	1: 21,439,833 (GRCm39)	N128S	probably benign	Het
Lamc1	T	C	1: 153,119,132 (GRCm39)	N829S	probably benign	Het
Leprotl1	T	C	8: 34,606,189 (GRCm39)	Y33C	probably damaging	Het
Lypd11	A	T	7: 24,423,047 (GRCm39)	D90E	probably benign	Het
Map3k3	T	A	11: 106,014,618 (GRCm39)	S130T	probably benign	Het
Mip	C	T	10: 128,061,854 (GRCm39)	A35V	probably benign	Het
Ms4a19	T	C	19: 11,118,921 (GRCm39)	T63A	possibly damaging	Het
Myh15	A	G	16: 48,952,512 (GRCm39)	R861G	probably damaging	Het
Myom1	A	C	17: 71,384,762 (GRCm39)	I718L	possibly damaging	Het
Naip6	C	T	13: 100,452,983 (GRCm39)	R26H	probably benign	Het
Or52e4	G	A	7: 104,706,179 (GRCm39)	C242Y	probably damaging	Het
Pde6b	A	G	5: 108,578,534 (GRCm39)	E824G	probably benign	Het
Pramel24	T	A	4: 143,453,678 (GRCm39)	I262N	possibly damaging	Het
Rbm19	T	G	5: 120,268,799 (GRCm39)	S476A	possibly damaging	Het
Rpl39l	T	A	16: 9,992,162 (GRCm39)		probably null	Het
Sec24b	A	G	3: 129,834,554 (GRCm39)	S79P	probably benign	Het
Slc15a2	G	A	16: 36,594,935 (GRCm39)	A146V	probably damaging	Het
Slmap	T	C	14: 26,189,675 (GRCm39)	Y161C	probably damaging	Het
Smc4	T	A	3: 68,933,259 (GRCm39)	C652S	probably damaging	Het
Stab1	A	G	14: 30,869,231 (GRCm39)	I1499T	probably damaging	Het
Tnnt1	A	G	7: 4,510,594 (GRCm39)	L209P	probably damaging	Het
Trim52	T	G	14: 106,344,973 (GRCm39)	S210R	probably benign	Het
Tsc22d1	T	A	14: 76,656,039 (GRCm39)	N82K	possibly damaging	Het
Wdr75	T	C	1: 45,856,470 (GRCm39)	Y498H	probably benign	Het
Zfp955a	C	T	17: 33,462,726 (GRCm39)	S56N	probably benign	Het

Other mutations in Akr1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:Akr1d1	APN	6	37,507,178 (GRCm39)	start gained	probably benign
IGL01927:Akr1d1	APN	6	37,541,394 (GRCm39)	missense	probably benign	0.35
IGL02376:Akr1d1	APN	6	37,507,220 (GRCm39)	missense	probably damaging	0.99
IGL02488:Akr1d1	APN	6	37,544,095 (GRCm39)	missense	probably benign	0.00
IGL02490:Akr1d1	APN	6	37,535,423 (GRCm39)	missense	probably damaging	1.00
IGL02685:Akr1d1	APN	6	37,507,278 (GRCm39)	splice site	probably benign
R1962:Akr1d1	UTSW	6	37,512,983 (GRCm39)	missense	probably benign	0.01
R1985:Akr1d1	UTSW	6	37,535,336 (GRCm39)	missense	probably damaging	1.00
R4082:Akr1d1	UTSW	6	37,534,424 (GRCm39)	missense	probably damaging	1.00
R4736:Akr1d1	UTSW	6	37,534,535 (GRCm39)	critical splice donor site	probably null
R4850:Akr1d1	UTSW	6	37,531,522 (GRCm39)	unclassified	probably null
R4860:Akr1d1	UTSW	6	37,541,426 (GRCm39)	missense	probably damaging	1.00
R4860:Akr1d1	UTSW	6	37,541,426 (GRCm39)	missense	probably damaging	1.00
R4883:Akr1d1	UTSW	6	37,535,336 (GRCm39)	missense	possibly damaging	0.84
R5226:Akr1d1	UTSW	6	37,512,949 (GRCm39)	splice site	probably null
R6024:Akr1d1	UTSW	6	37,535,417 (GRCm39)	missense	probably benign	0.01
R6451:Akr1d1	UTSW	6	37,527,150 (GRCm39)	missense	probably benign	0.06
R7538:Akr1d1	UTSW	6	37,513,043 (GRCm39)	missense	probably benign	0.37
R9131:Akr1d1	UTSW	6	37,531,451 (GRCm39)	missense	probably benign	0.18
R9370:Akr1d1	UTSW	6	37,544,099 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCCTCTGAGGATGTTCCAAACAA -3'
(R):5'- GCCTGTACTCTGTGGATGGTCACATAAA -3'

Sequencing Primer
(F):5'- gagcaagccaggggaag -3'
(R):5'- GGTTTAGGCAACATACACCACC -3'

Posted On

2013-11-07