Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02490:Akr1d1'

295610

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 #

IGL02490

Quality Score

Status

Chromosome

Chromosomal Location

37507108-37545750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37535423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 269 (V269A)

Ref Sequence

ENSEMBL: ENSMUSP00000048830 (fasta)

Gene Model

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

AlphaFold

Q8VCX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000040987
AA Change: V269A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048830
Gene: ENSMUSG00000038641
AA Change: V269A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123648

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D06Rik	A	G	6: 89,078,559 (GRCm39)		noncoding transcript	Het
Adam5	A	T	8: 25,271,720 (GRCm39)	Y562*	probably null	Het
Anks4b	A	G	7: 119,773,241 (GRCm39)	T34A	probably damaging	Het
Arhgef40	A	G	14: 52,226,652 (GRCm39)	N232S	probably damaging	Het
Cdc40	C	T	10: 40,717,767 (GRCm39)	V379I	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh13	A	G	8: 119,822,062 (GRCm39)	D307G	probably damaging	Het
Ces1h	A	G	8: 94,083,627 (GRCm39)		probably null	Het
Chchd6	T	A	6: 89,361,656 (GRCm39)	H249L	possibly damaging	Het
Clxn	T	A	16: 14,734,810 (GRCm39)	V60E	probably benign	Het
Cul1	T	C	6: 47,491,820 (GRCm39)	V392A	probably damaging	Het
Cwc15	A	T	9: 14,413,320 (GRCm39)	D34V	probably damaging	Het
Cyp2c39	T	C	19: 39,527,446 (GRCm39)	I264T	probably damaging	Het
Dapk1	A	G	13: 60,897,148 (GRCm39)	D789G	probably damaging	Het
Dcdc2a	T	A	13: 25,291,635 (GRCm39)	Y207N	probably damaging	Het
Flt3	T	A	5: 147,268,106 (GRCm39)	N960Y	probably damaging	Het
Fmn1	C	T	2: 113,359,817 (GRCm39)		probably benign	Het
Foxm1	T	A	6: 128,350,314 (GRCm39)	C400*	probably null	Het
Ftmt	A	C	18: 52,464,760 (GRCm39)	R25S	probably benign	Het
Guca1b	T	C	17: 47,700,190 (GRCm39)		probably benign	Het
Hectd4	A	T	5: 121,456,676 (GRCm39)	K680N	possibly damaging	Het
Hephl1	C	A	9: 14,964,981 (GRCm39)	R1138L	probably benign	Het
Il1rl2	T	A	1: 40,395,972 (GRCm39)		probably benign	Het
Ints2	A	T	11: 86,124,009 (GRCm39)	I593K	possibly damaging	Het
Iqcg	T	A	16: 32,855,937 (GRCm39)	K213*	probably null	Het
Kif1b	T	A	4: 149,288,665 (GRCm39)	S1259C	probably benign	Het
Klc1	C	T	12: 111,748,210 (GRCm39)	T371M	possibly damaging	Het
Loxl4	T	C	19: 42,593,269 (GRCm39)	T301A	probably benign	Het
Lrrc40	T	C	3: 157,768,336 (GRCm39)	L497P	probably damaging	Het
Masp2	C	T	4: 148,692,400 (GRCm39)	R298W	possibly damaging	Het
Myo5a	A	T	9: 75,043,737 (GRCm39)	Y242F	probably damaging	Het
Nup98	A	G	7: 101,801,573 (GRCm39)	V784A	probably damaging	Het
Or5w15	T	C	2: 87,568,299 (GRCm39)	Y123C	probably damaging	Het
Osbpl1a	G	T	18: 13,015,341 (GRCm39)		probably benign	Het
Pcdh10	A	G	3: 45,334,922 (GRCm39)	Y412C	probably damaging	Het
Pfkfb2	T	A	1: 130,628,589 (GRCm39)	Y339F	probably damaging	Het
Plcb2	T	C	2: 118,550,241 (GRCm39)	N172D	probably damaging	Het
Plec	T	C	15: 76,073,463 (GRCm39)	Y517C	probably damaging	Het
Plod2	G	T	9: 92,468,895 (GRCm39)	A207S	probably benign	Het
Plxdc1	A	T	11: 97,845,604 (GRCm39)	D229E	probably benign	Het
Ppp3cb	A	G	14: 20,581,726 (GRCm39)		probably null	Het
Procr	T	C	2: 155,595,352 (GRCm39)	L52P	probably damaging	Het
Psme2b	G	T	11: 48,836,946 (GRCm39)		probably benign	Het
Rgs22	G	A	15: 36,054,993 (GRCm39)	A727V	probably damaging	Het
Rock2	T	A	12: 16,998,564 (GRCm39)	W277R	probably damaging	Het
Rpl26	A	G	11: 68,795,216 (GRCm39)	D112G	probably damaging	Het
Rxfp1	C	A	3: 79,559,474 (GRCm39)		probably null	Het
Sdr39u1	G	A	14: 56,135,798 (GRCm39)	P98L	probably damaging	Het
Sgms1	T	C	19: 32,137,543 (GRCm39)	K8E	probably damaging	Het
Stk31	T	C	6: 49,394,469 (GRCm39)	V277A	probably benign	Het
Trav15-1-dv6-1	A	C	14: 53,797,588 (GRCm39)	E79A	probably benign	Het
Ttll6	A	T	11: 96,047,546 (GRCm39)	D715V	possibly damaging	Het
Ush2a	T	C	1: 188,542,561 (GRCm39)	S3376P	probably damaging	Het
Vmn2r109	T	A	17: 20,761,246 (GRCm39)	T704S	possibly damaging	Het
Zfp27	T	A	7: 29,594,360 (GRCm39)	H535L	possibly damaging	Het
Zfp609	A	T	9: 65,611,250 (GRCm39)	V571D	possibly damaging	Het
Zfp874a	A	T	13: 67,590,819 (GRCm39)	Y288*	probably null	Het
Zfp993	T	C	4: 146,742,074 (GRCm39)	S133P	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
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
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