Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01553:Akr1c13'

90641

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

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01553

Quality Score

Status

Chromosome

Chromosomal Location

4191150-4205596 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4194775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 117 (H117Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021634 (fasta)

Gene Model

predicted gene model for transcript(s): [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 damaging
Transcript: ENSMUST00000021634
AA Change: H117Q

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

SMART Domains

Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213
AA Change: H117Q

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap44	T	C	11: 65,053,118	N188S	probably damaging	Het
Bach1	T	A	16: 87,722,505	I561N	probably damaging	Het
Bsph2	G	T	7: 13,556,720	T78K	probably damaging	Het
Ccdc178	A	G	18: 21,915,006	Y776H	probably damaging	Het
Ccdc7a	T	C	8: 129,026,591		probably benign	Het
Cenpp	C	T	13: 49,464,776	V218M	probably damaging	Het
Dnmt3l	A	G	10: 78,063,248	S94G	probably benign	Het
Dock7	A	T	4: 98,945,566	Y1839*	probably null	Het
Fam129c	G	T	8: 71,602,902	A319S	possibly damaging	Het
Gabra6	T	A	11: 42,315,196	T278S	probably damaging	Het
Galnt11	G	A	5: 25,247,720	D77N	probably benign	Het
Gm17175	T	C	14: 51,570,822	D171G	probably benign	Het
Iqch	T	C	9: 63,500,917	N655S	probably benign	Het
Kdm1b	T	A	13: 47,080,548	I786N	probably damaging	Het
Macf1	G	A	4: 123,493,163	Q976*	probably null	Het
Mbtd1	T	A	11: 93,923,214	C228S	probably benign	Het
Myo10	T	C	15: 25,776,329	L46P	probably damaging	Het
Nup133	A	G	8: 123,915,324	V800A	possibly damaging	Het
Olfr191	G	T	16: 59,086,322	H54N	probably benign	Het
Prkca	C	T	11: 108,057,834	G110R	probably benign	Het
Samd9l	A	T	6: 3,375,566	M565K	probably damaging	Het
Scgn	T	C	13: 23,959,679	Q77R	probably benign	Het
Serpinb6b	T	C	13: 32,974,948	L44P	probably damaging	Het
Tfrc	T	C	16: 32,628,585	V673A	probably benign	Het
Tsfm	G	A	10: 127,028,390	T152M	probably benign	Het
Wdfy3	A	T	5: 101,900,031	C1803S	probably benign	Het

Other mutations in Akr1c13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Akr1c13	APN	13	4197795	splice site	probably null
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

2013-12-09