Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01387:Akr1c13'

79095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akr1c13

Ensembl Gene

ENSMUSG00000021213

Gene Name

aldo-keto reductase family 1, member C13

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL01387

Quality Score

Status

Chromosome

Chromosomal Location

4191150-4205596 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 4197795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021634] [ENSMUST00000021634] [ENSMUST00000021634] [ENSMUST00000128892]

AlphaFold

Q8VC28

PDB Structure

Crystal structure of Putative reductase (NP_038806.2) from MUS MUSCULUS at 1.18 A resolution [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000021634

SMART Domains

Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	7.8e-63	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000021634

SMART Domains

Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	7.8e-63	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000021634

SMART Domains

Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	7.8e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140971

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,999,762	I288T	possibly damaging	Het
Ano2	T	C	6: 126,013,277	L787P	probably damaging	Het
Arf4	A	T	14: 26,653,145	I73F	possibly damaging	Het
Atp6v1e1	A	G	6: 120,795,771		probably null	Het
Ccdc9	A	C	7: 16,284,499	M1R	probably null	Het
Cep162	A	G	9: 87,211,811	L838S	probably benign	Het
Cfi	T	A	3: 129,874,913		probably benign	Het
Creb3l3	T	C	10: 81,091,276	T107A	probably benign	Het
Erlin2	T	C	8: 27,036,548	L312P	probably benign	Het
Etv1	T	G	12: 38,861,327	M384R	probably damaging	Het
Exph5	G	T	9: 53,373,965	S782I	possibly damaging	Het
Fsd1	C	T	17: 55,996,733	S491F	probably damaging	Het
Fsip2	A	G	2: 82,992,982	N6353S	possibly damaging	Het
Gk5	T	C	9: 96,177,554		probably null	Het
Gm11168	T	G	9: 3,005,128	S202R	possibly damaging	Het
Hdlbp	T	C	1: 93,413,588	D1016G	possibly damaging	Het
Kpna4	A	G	3: 69,102,257		probably benign	Het
Lrrn2	T	C	1: 132,938,358	V387A	possibly damaging	Het
Olfr1084	T	C	2: 86,639,250	T153A	probably benign	Het
Olfr1249	T	A	2: 89,630,620	R93*	probably null	Het
Olfr1350	A	G	7: 6,570,855	Y288C	probably damaging	Het
Olfr820	T	A	10: 130,017,841	M160K	probably damaging	Het
Olfr937	A	G	9: 39,060,321	L115S	probably damaging	Het
Plekhs1	A	G	19: 56,470,971	Q51R	probably benign	Het
Rab27b	T	A	18: 69,985,309	D179V	possibly damaging	Het
Rprd2	C	T	3: 95,765,319	R924H	probably benign	Het
Shprh	T	C	10: 11,170,254	I905T	probably damaging	Het
Trpm8	T	C	1: 88,343,287	L433P	probably damaging	Het
Urb1	A	G	16: 90,757,761	L1861S	possibly damaging	Het
Vmn2r124	C	A	17: 18,062,926	T294K	probably damaging	Het
Wdr66	T	A	5: 123,283,546	I654N	probably damaging	Het
Znrf3	A	T	11: 5,338,656	C37*	probably null	Het

Other mutations in Akr1c13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01553:Akr1c13	APN	13	4194775	missense	probably damaging	1.00
IGL01895:Akr1c13	APN	13	4205373	missense	possibly damaging	0.53
IGL02029:Akr1c13	APN	13	4205362	nonsense	probably null
IGL02316:Akr1c13	APN	13	4203459	unclassified	probably benign
IGL02949:Akr1c13	APN	13	4198594	missense	probably damaging	0.99
R0050:Akr1c13	UTSW	13	4194670	splice site	probably benign
R0184:Akr1c13	UTSW	13	4194056	missense	probably damaging	0.98
R0470:Akr1c13	UTSW	13	4198501	missense	probably damaging	1.00
R0722:Akr1c13	UTSW	13	4197932	splice site	probably null
R0791:Akr1c13	UTSW	13	4194112	missense	probably damaging	1.00
R0792:Akr1c13	UTSW	13	4194112	missense	probably damaging	1.00
R2106:Akr1c13	UTSW	13	4198594	missense	probably damaging	0.99
R2509:Akr1c13	UTSW	13	4198584	missense	probably damaging	1.00
R4624:Akr1c13	UTSW	13	4197870	missense	probably damaging	1.00
R4626:Akr1c13	UTSW	13	4197870	missense	probably damaging	1.00
R4627:Akr1c13	UTSW	13	4197870	missense	probably damaging	1.00
R4628:Akr1c13	UTSW	13	4197870	missense	probably damaging	1.00
R4629:Akr1c13	UTSW	13	4197870	missense	probably damaging	1.00
R4764:Akr1c13	UTSW	13	4198497	missense	probably benign	0.05
R5112:Akr1c13	UTSW	13	4194152	missense	possibly damaging	0.70
R5149:Akr1c13	UTSW	13	4194169	missense	probably benign	0.10
R5203:Akr1c13	UTSW	13	4197897	nonsense	probably null
R5408:Akr1c13	UTSW	13	4194716	missense	probably benign	0.00
R5776:Akr1c13	UTSW	13	4194187	missense	probably damaging	1.00
R6469:Akr1c13	UTSW	13	4196512	critical splice donor site	probably null
R7466:Akr1c13	UTSW	13	4192437	critical splice donor site	probably benign
R9080:Akr1c13	UTSW	13	4191173	unclassified	probably benign
X0020:Akr1c13	UTSW	13	4203451	critical splice donor site	probably null

Posted On

2013-11-05