Mutagenetix > Incidental Mutation

Incidental Mutation 'R6024:Akr1d1'

479081

Institutional Source

Beutler Lab

Gene Symbol

Akr1d1

Ensembl Gene

ENSMUSG00000038641

Gene Name

aldo-keto reductase family 1, member D1

Synonyms

MMRRC Submission

044196-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37507108-37545750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37535417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 267 (I267T)

Ref Sequence

ENSEMBL: ENSMUSP00000048830 (fasta)

Gene Model

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

AlphaFold

Q8VCX1

Predicted Effect

probably benign
Transcript: ENSMUST00000040987
AA Change: I267T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000048830
Gene: ENSMUSG00000038641
AA Change: I267T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123648

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,624,624 (GRCm39)	F3782L	probably benign	Het
Aoc1l1	A	T	6: 48,953,030 (GRCm39)	K318N	possibly damaging	Het
Arhgef5	T	C	6: 43,252,068 (GRCm39)	S940P	probably benign	Het
Art2b	A	G	7: 101,229,587 (GRCm39)	I104T	probably benign	Het
Avpr1a	A	G	10: 122,285,053 (GRCm39)	Y115C	probably damaging	Het
Cdc42bpg	T	A	19: 6,367,526 (GRCm39)	L995Q	probably damaging	Het
Cenatac	T	C	9: 44,329,249 (GRCm39)	T13A	possibly damaging	Het
Clip1	T	C	5: 123,753,152 (GRCm39)	K210E	possibly damaging	Het
Cog4	C	T	8: 111,608,112 (GRCm39)	T735I	probably damaging	Het
Creb3l4	G	A	3: 90,146,006 (GRCm39)	S206L	probably damaging	Het
Csf3r	C	A	4: 125,931,310 (GRCm39)		probably null	Het
Dnah11	G	T	12: 117,994,007 (GRCm39)	S2346R	probably benign	Het
Dnai2	A	T	11: 114,643,734 (GRCm39)	I467F	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,876 (GRCm39)	M523K	probably damaging	Het
Ebf3	T	C	7: 136,802,264 (GRCm39)	D407G	probably damaging	Het
Fbn2	A	G	18: 58,209,908 (GRCm39)	I991T	probably benign	Het
Gcc1	T	C	6: 28,419,299 (GRCm39)	T345A	probably benign	Het
Gm1527	C	T	3: 28,974,752 (GRCm39)	H522Y	probably benign	Het
Gm4846	T	A	1: 166,317,696 (GRCm39)	Y240F	probably benign	Het
Hmgcl	T	C	4: 135,682,926 (GRCm39)	V126A	probably benign	Het
Ifit1bl2	G	T	19: 34,597,438 (GRCm39)	S59R	probably benign	Het
Itga6	A	G	2: 71,617,577 (GRCm39)	N32S	probably benign	Het
Lcor	C	A	19: 41,572,396 (GRCm39)	P384T	possibly damaging	Het
Macc1	T	C	12: 119,414,160 (GRCm39)	S779P	probably benign	Het
Mctp1	G	T	13: 76,533,280 (GRCm39)	L209F	probably damaging	Het
Mink1	A	G	11: 70,489,915 (GRCm39)	N97S	possibly damaging	Het
Mst1r	T	A	9: 107,785,350 (GRCm39)	V336E	probably benign	Het
Muc16	A	T	9: 18,557,967 (GRCm39)	S2775R	unknown	Het
Muc6	T	A	7: 141,227,841 (GRCm39)	T1316S	possibly damaging	Het
Myh11	T	A	16: 14,095,567 (GRCm39)	N65I	probably damaging	Het
Myo9a	A	G	9: 59,762,671 (GRCm39)	N801D	possibly damaging	Het
Nkain2	A	T	10: 31,827,281 (GRCm39)	M103K	probably damaging	Het
Nkx2-2	T	A	2: 147,025,961 (GRCm39)	Y259F	probably benign	Het
Nrxn1	T	C	17: 90,897,526 (GRCm39)	M877V	possibly damaging	Het
Nxf1	C	T	19: 8,745,108 (GRCm39)	L453F	probably damaging	Het
Pcnt	T	C	10: 76,255,871 (GRCm39)	S790G	possibly damaging	Het
Phf3	T	C	1: 30,902,307 (GRCm39)	D2G	probably damaging	Het
Phrf1	T	C	7: 140,838,898 (GRCm39)		probably benign	Het
Ptpn3	C	A	4: 57,248,653 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,243,841 (GRCm39)	T625A	probably benign	Het
R3hdm2	T	A	10: 127,295,349 (GRCm39)	F239I	probably damaging	Het
Sesn1	A	T	10: 41,772,196 (GRCm39)	I242F	probably damaging	Het
Shank2	C	T	7: 143,733,768 (GRCm39)	T105I	probably benign	Het
Skint3	T	C	4: 112,147,543 (GRCm39)	F350S	possibly damaging	Het
Slco5a1	T	C	1: 13,014,294 (GRCm39)	Y320C	probably damaging	Het
Syt11	A	G	3: 88,669,416 (GRCm39)	S159P	probably benign	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,814,498 (GRCm39)	S1981P	probably damaging	Het
Tmem200c	A	C	17: 69,148,722 (GRCm39)	D435A	possibly damaging	Het
Trappc8	A	G	18: 20,966,066 (GRCm39)	V1125A	probably damaging	Het
Ttn	A	G	2: 76,644,487 (GRCm39)	V4762A	possibly damaging	Het
Unc5d	A	G	8: 29,365,539 (GRCm39)	S149P	possibly damaging	Het
Usf3	A	T	16: 44,040,203 (GRCm39)	N1561I	probably damaging	Het
Wdr4	A	T	17: 31,720,272 (GRCm39)		probably benign	Het
Wdr49	T	G	3: 75,209,133 (GRCm39)	E612D	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
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'- CTGGCAGTGACCAGTGAATG -3'
(R):5'- TGTTGGACATGCAGGACACAG -3'

Sequencing Primer
(F):5'- GTGACCAGTGAATGAGAACACACC -3'
(R):5'- GAAGGGGTGTACATGAGATTGATTC -3'

Posted On

2017-06-26