Mutagenetix > Incidental Mutation

Incidental Mutation 'R9131:Akr1d1'

693618

Institutional Source

Beutler Lab

Gene Symbol

Akr1d1

Ensembl Gene

ENSMUSG00000038641

Gene Name

aldo-keto reductase family 1, member D1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37507108-37545750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37531451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 163 (K163R)

Ref Sequence

ENSEMBL: ENSMUSP00000048830 (fasta)

Gene Model

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

AlphaFold

Q8VCX1

Predicted Effect

probably benign
Transcript: ENSMUST00000040987
AA Change: K163R

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048830
Gene: ENSMUSG00000038641
AA Change: K163R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,160,075 (GRCm39)	Y148F	possibly damaging	Het
Adamtsl3	A	G	7: 82,244,722 (GRCm39)	T1393A	probably benign	Het
Adgrf4	G	T	17: 42,978,258 (GRCm39)	Q362K	probably benign	Het
Arhgap42	A	G	9: 9,011,364 (GRCm39)	L474P	probably damaging	Het
Arhgef18	G	A	8: 3,487,007 (GRCm39)	R242Q	possibly damaging	Het
Asah1	A	G	8: 41,807,049 (GRCm39)		probably null	Het
Atm	A	T	9: 53,445,044 (GRCm39)	I34N	probably benign	Het
Brms1l	A	G	12: 55,906,913 (GRCm39)	E160G	possibly damaging	Het
Camk2a	C	T	18: 61,076,327 (GRCm39)	H102Y	unknown	Het
Cd300lb	A	G	11: 114,819,134 (GRCm39)	V165A	probably damaging	Het
Cela1	G	A	15: 100,579,038 (GRCm39)	R207C	probably benign	Het
Chd7	T	C	4: 8,785,642 (GRCm39)	S649P		Het
Cilk1	A	T	9: 78,074,230 (GRCm39)	S551C	possibly damaging	Het
Clic3	A	G	2: 25,348,325 (GRCm39)	Q130R	probably benign	Het
Clns1a	G	A	7: 97,363,125 (GRCm39)	G166R	probably damaging	Het
Cngb1	A	T	8: 95,979,893 (GRCm39)	H1002Q	probably benign	Het
Cnnm1	C	A	19: 43,429,839 (GRCm39)	A319E	probably benign	Het
Cntnap5b	C	T	1: 99,978,368 (GRCm39)	T128I	probably benign	Het
Csf3r	G	A	4: 125,923,813 (GRCm39)	D108N	probably benign	Het
Ctsc	G	A	7: 87,959,016 (GRCm39)	W432*	probably null	Het
Dapk1	G	A	13: 60,909,208 (GRCm39)	G1274R	probably damaging	Het
Dennd2c	C	A	3: 103,065,031 (GRCm39)	P718Q	probably damaging	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah7b	C	T	1: 46,266,180 (GRCm39)	R2250C	probably damaging	Het
Dnmt3a	A	T	12: 3,916,136 (GRCm39)	Q107L	probably benign	Het
Eml2	A	G	7: 18,918,751 (GRCm39)	D67G		Het
Eml5	A	T	12: 98,825,099 (GRCm39)	V706E	probably damaging	Het
Eps8l1	A	G	7: 4,480,573 (GRCm39)	D509G		Het
Farsb	T	C	1: 78,459,951 (GRCm39)	K43E	probably benign	Het
Fbxw20	A	G	9: 109,052,514 (GRCm39)	F273S	probably damaging	Het
Fig4	A	T	10: 41,141,407 (GRCm39)	F284Y	possibly damaging	Het
Fsd1l	C	A	4: 53,694,756 (GRCm39)	N403K	probably damaging	Het
Fsip2	A	T	2: 82,813,170 (GRCm39)	H3163L	probably benign	Het
Gm38119	C	A	3: 92,645,403 (GRCm39)	G64*	probably null	Het
Gpr18	A	G	14: 122,149,173 (GRCm39)	V284A	probably benign	Het
Hacd3	A	G	9: 64,908,286 (GRCm39)	V170A	probably damaging	Het
Hps3	T	C	3: 20,083,350 (GRCm39)	E281G	probably damaging	Het
Ighv12-3	A	C	12: 114,330,546 (GRCm39)	V10G	probably benign	Het
Lrp1b	G	A	2: 40,589,590 (GRCm39)	R3862*	probably null	Het
Ltbp4	A	G	7: 27,036,976 (GRCm39)	L6P	unknown	Het
Ly6h	T	A	15: 75,437,522 (GRCm39)	T53S	probably damaging	Het
Ly6i	A	G	15: 74,855,006 (GRCm39)		probably benign	Het
Mat2a	G	A	6: 72,413,227 (GRCm39)	R168C	probably damaging	Het
Mdn1	T	A	4: 32,762,275 (GRCm39)	D5066E	possibly damaging	Het
Med23	T	A	10: 24,780,279 (GRCm39)	F976I		Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Mylk	G	T	16: 34,776,835 (GRCm39)	C1336F	probably benign	Het
Myo9a	G	C	9: 59,768,772 (GRCm39)	R918P	probably damaging	Het
Naglu	T	A	11: 100,967,731 (GRCm39)	D560E	probably damaging	Het
Nrg2	C	T	18: 36,157,396 (GRCm39)	V430M	probably damaging	Het
Oit3	T	C	10: 59,271,751 (GRCm39)	N202S	probably benign	Het
Or13a1	A	G	6: 116,470,881 (GRCm39)	T104A	probably benign	Het
Or1e29	A	T	11: 73,668,150 (GRCm39)	M1K	probably null	Het
Or52r1	T	C	7: 102,537,186 (GRCm39)	H58R	probably benign	Het
Or5b101	T	A	19: 13,005,360 (GRCm39)	Y111F	probably benign	Het
Or6c63-ps1	C	A	10: 128,899,097 (GRCm39)	V260F	probably damaging	Het
Otog	T	A	7: 45,952,597 (GRCm39)	C423*	probably null	Het
Pcolce	T	A	5: 137,603,770 (GRCm39)	T401S	probably benign	Het
Pcsk2	T	C	2: 143,655,583 (GRCm39)	M589T	possibly damaging	Het
Pik3r5	T	C	11: 68,383,099 (GRCm39)	L306P	possibly damaging	Het
Pikfyve	T	A	1: 65,285,239 (GRCm39)	M826K	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,106 (GRCm39)	R898G	possibly damaging	Het
Prl7b1	A	G	13: 27,790,968 (GRCm39)	V39A	probably benign	Het
Pros1	T	A	16: 62,748,397 (GRCm39)	D623E	probably damaging	Het
Psg16	A	G	7: 16,832,024 (GRCm39)	D320G	probably benign	Het
Ptpre	T	A	7: 135,280,875 (GRCm39)	H612Q	probably damaging	Het
Rbm34	A	G	8: 127,679,928 (GRCm39)	S283P	probably damaging	Het
Rc3h2	A	T	2: 37,304,702 (GRCm39)	N19K	possibly damaging	Het
Sacm1l	T	A	9: 123,381,827 (GRCm39)	L143*	probably null	Het
Septin9	T	A	11: 117,181,460 (GRCm39)	S105T	probably damaging	Het
Shprh	T	C	10: 11,038,589 (GRCm39)	M448T	possibly damaging	Het
Slc6a20a	A	C	9: 123,466,063 (GRCm39)	*593E	probably null	Het
Smarcc1	A	G	9: 109,964,710 (GRCm39)	D89G	possibly damaging	Het
Svep1	T	A	4: 58,087,778 (GRCm39)	Y1767F	possibly damaging	Het
Tanc2	T	C	11: 105,689,603 (GRCm39)	V255A	probably benign	Het
Tiam1	A	G	16: 89,657,155 (GRCm39)	S694P	probably damaging	Het
Tmem130	T	C	5: 144,680,529 (GRCm39)	T292A		Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,105,203 (GRCm39)		probably benign	Het
Tpcn2	A	G	7: 144,814,662 (GRCm39)	Y480H	probably damaging	Het
Trf	G	T	9: 103,089,087 (GRCm39)	A600D	probably damaging	Het
Ttc16	A	T	2: 32,659,232 (GRCm39)	L346Q	probably damaging	Het
Vars1	A	C	17: 35,223,773 (GRCm39)	K229N	possibly damaging	Het
Vmn1r113	G	T	7: 20,521,342 (GRCm39)	G45C	probably damaging	Het
Vmn1r32	A	G	6: 66,530,020 (GRCm39)	V252A	probably benign	Het
Vmn2r93	A	G	17: 18,546,143 (GRCm39)	T672A	probably damaging	Het
Wdfy4	T	A	14: 32,819,807 (GRCm39)	T1466S		Het
Zcwpw1	T	C	5: 137,809,182 (GRCm39)	Y317H	probably damaging	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp273	A	T	13: 67,973,685 (GRCm39)	H271L	probably damaging	Het
Zfp764	C	A	7: 127,005,719 (GRCm39)	E20*	probably null	Het
Znfx1	A	T	2: 166,892,298 (GRCm39)	N639K	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
R0963:Akr1d1	UTSW	6	37,507,209 (GRCm39)	missense	probably damaging	0.98
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
R9370:Akr1d1	UTSW	6	37,544,099 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CCACTGCAGGTGTTTATAAATGGATAG -3'
(R):5'- AGACTATGATTTCTATGGAGCACC -3'

Sequencing Primer
(F):5'- GTGGGTGTGTACAGCAA -3'
(R):5'- AAGACCTCCTGCTGCAGAG -3'

Posted On

2022-01-20