Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Akr1d1'

291091

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akr1d1

Ensembl Gene

ENSMUSG00000038641

Gene Name

aldo-keto reductase family 1, member D1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

37507108-37545750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37507220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 14 (D14V)

Ref Sequence

ENSEMBL: ENSMUSP00000048830 (fasta)

Gene Model

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

AlphaFold

Q8VCX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000040987
AA Change: D14V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048830
Gene: ENSMUSG00000038641
AA Change: D14V

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

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,815,466 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,251,031 (GRCm39)	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,236,544 (GRCm39)	V289A	probably benign	Het
Ankrd12	T	C	17: 66,349,524 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,111,506 (GRCm39)	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,845,140 (GRCm39)	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,867,735 (GRCm39)	T444A	probably damaging	Het
Arr3	A	C	X: 99,658,281 (GRCm39)	K281Q	probably damaging	Het
Arrdc2	A	T	8: 71,291,623 (GRCm39)	I114N	probably benign	Het
Atg2b	A	T	12: 105,611,727 (GRCm39)	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,338,894 (GRCm39)	Y188S	probably benign	Het
Cbx6	C	A	15: 79,712,500 (GRCm39)	R309L	probably benign	Het
Cfap410	A	G	10: 77,820,388 (GRCm39)		probably benign	Het
Chrna9	T	C	5: 66,128,502 (GRCm39)	S237P	probably damaging	Het
Dapk1	G	A	13: 60,844,208 (GRCm39)	V76I	probably benign	Het
Elk4	T	A	1: 131,942,288 (GRCm39)	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287 (GRCm39)	T799P	probably damaging	Het
Exosc2	G	A	2: 31,569,887 (GRCm39)	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,059,366 (GRCm39)	D3G	probably benign	Het
Farp1	T	A	14: 121,510,268 (GRCm39)	N755K	probably damaging	Het
Fer	A	G	17: 64,241,341 (GRCm39)	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,216,844 (GRCm39)	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300 (GRCm39)	I658S	probably damaging	Het
Gemin2	A	G	12: 59,068,506 (GRCm39)	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,268,168 (GRCm39)	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,046,766 (GRCm39)	G149D	probably damaging	Het
Krt74	A	C	15: 101,662,938 (GRCm39)		noncoding transcript	Het
Ltf	A	G	9: 110,858,692 (GRCm39)	D480G	probably benign	Het
Map1b	A	G	13: 99,572,103 (GRCm39)	L206P	probably damaging	Het
Meis1	T	C	11: 18,831,752 (GRCm39)	M429V	probably benign	Het
Myh4	C	A	11: 67,136,554 (GRCm39)	T444N	probably benign	Het
Nckap1l	A	T	15: 103,379,658 (GRCm39)	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,350,447 (GRCm39)	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,057,823 (GRCm39)		probably null	Het
Ogdhl	T	C	14: 32,065,275 (GRCm39)	Y710H	probably damaging	Het
Or4c52	A	G	2: 89,845,804 (GRCm39)	I177V	probably benign	Het
Otud7b	A	G	3: 96,062,354 (GRCm39)	K531R	possibly damaging	Het
Pax3	T	C	1: 78,108,929 (GRCm39)	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,705,567 (GRCm39)		probably benign	Het
Pik3cb	C	T	9: 98,934,405 (GRCm39)	M813I	probably benign	Het
Prss42	A	T	9: 110,632,175 (GRCm39)	D302V	possibly damaging	Het
Rad52	T	C	6: 119,892,191 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,285,789 (GRCm39)	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,053,192 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 110,062,163 (GRCm39)	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,870,060 (GRCm39)		probably null	Het
Smg9	A	G	7: 24,114,455 (GRCm39)	I265V	probably benign	Het
Sppl2b	G	T	10: 80,703,432 (GRCm39)	E565*	probably null	Het
Stx6	T	A	1: 155,077,725 (GRCm39)	V244D	probably benign	Het
Tle4	T	C	19: 14,571,768 (GRCm39)	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,414,429 (GRCm39)	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,066,295 (GRCm39)	T220I	possibly damaging	Het
Ttn	A	T	2: 76,557,811 (GRCm39)	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,799,981 (GRCm39)	M281L	probably benign	Het
Zfp595	T	C	13: 67,464,514 (GRCm39)	K586R	possibly damaging	Het
Zfta	C	T	19: 7,399,741 (GRCm39)	P496L	probably damaging	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
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
R9131:Akr1d1	UTSW	6	37,531,451 (GRCm39)	missense	probably benign	0.18
R9370:Akr1d1	UTSW	6	37,544,099 (GRCm39)	makesense	probably null

Posted On

2015-04-16