Mutagenetix > Incidental Mutation

Incidental Mutation 'RF012:Akr1e1'

603291

Institutional Source

Beutler Lab

Gene Symbol

Akr1e1

Ensembl Gene

ENSMUSG00000045410

Gene Name

aldo-keto reductase family 1, member E1

Synonyms

1810061I10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

RF012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4641122-4659163 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4645125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 242 (N242I)

Ref Sequence

ENSEMBL: ENSMUSP00000089459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091848] [ENSMUST00000110691]

AlphaFold

Q9DCT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000091848
AA Change: N242I

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089459
Gene: ENSMUSG00000045410
AA Change: N242I

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	6	279	1.4e-52	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110691
AA Change: N186I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106319
Gene: ENSMUSG00000045410
AA Change: N186I

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	9	223	5.8e-44	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

89% (56/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,453,552 (GRCm39)	L123Q	probably damaging	Het
AI837181	GCG	GCGTCG	19: 5,475,255 (GRCm39)		probably benign	Het
Ankrd7	G	C	6: 18,869,274 (GRCm39)	E194Q	possibly damaging	Het
Ano3	A	G	2: 110,527,868 (GRCm39)	F517L	possibly damaging	Het
Arhgef4	CAAA	C	1: 34,763,565 (GRCm39)		probably benign	Het
Arid1a	AGACGACGA	AGACGA	4: 133,480,131 (GRCm39)		probably benign	Het
Atp2c2	G	T	8: 120,472,253 (GRCm39)	A436S	possibly damaging	Het
BC004004	T	A	17: 29,501,782 (GRCm39)	V107E	probably benign	Het
Begain	CGCCGC	CGCCGCAGCCGC	12: 108,999,353 (GRCm39)		probably benign	Het
Cad	GT	G	5: 31,217,556 (GRCm39)		probably benign	Het
Chi3l1	A	T	1: 134,112,909 (GRCm39)	T122S	probably benign	Het
Clic6	A	G	16: 92,327,697 (GRCm39)	S501G	possibly damaging	Het
Col6a3	A	C	1: 90,738,282 (GRCm39)	L1079R	probably damaging	Het
Coro2a	T	C	4: 46,542,336 (GRCm39)	K346E	probably damaging	Het
Ctsf	A	G	19: 4,908,694 (GRCm39)	N325D	probably benign	Het
Dchs2	A	G	3: 83,262,375 (GRCm39)	E2881G	probably benign	Het
Dnah14	A	G	1: 181,455,463 (GRCm39)	T863A	probably damaging	Het
Dnai2	A	T	11: 114,641,242 (GRCm39)	I356F	probably damaging	Het
Dusp4	ACGGCGGCGGCGGC	ACGGCGGCGGC	8: 35,274,953 (GRCm39)		probably benign	Het
Efhb	T	C	17: 53,720,545 (GRCm39)	N647D	probably damaging	Het
Efhd2	CCG	CCGACGGCG	4: 141,602,079 (GRCm39)		probably benign	Het
Eif3i	A	G	4: 129,485,872 (GRCm39)	Y318H	probably damaging	Het
Fbxl5	T	C	5: 43,930,847 (GRCm39)	H80R	probably damaging	Het
Gab3	TCT	TCTGCT	X: 74,043,626 (GRCm39)		probably benign	Het
Gne	G	T	4: 44,060,045 (GRCm39)	A147D	probably damaging	Het
Gpi1	A	T	7: 33,901,902 (GRCm39)	H538Q	probably damaging	Het
Itih2	T	C	2: 10,122,214 (GRCm39)	H229R	possibly damaging	Het
Kdm7a	A	G	6: 39,183,447 (GRCm39)	V41A	probably damaging	Het
Krtap28-10	GCCACA	GCCACACCCACA	1: 83,019,857 (GRCm39)		probably benign	Het
Lipa	A	T	19: 34,486,498 (GRCm39)	S141R	probably damaging	Het
Medag	G	T	5: 149,335,459 (GRCm39)	C6F	probably benign	Het
Nefh	GGCCTCT	GGCCTCTCCTGGGGACTTTGCCTCT	11: 4,891,055 (GRCm39)		probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,030 (GRCm39)		probably benign	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Opa1	A	G	16: 29,432,784 (GRCm39)	I482M	probably damaging	Het
Or12e14	A	T	2: 87,677,103 (GRCm39)	I163L	probably benign	Het
Pgf	T	C	12: 85,216,316 (GRCm39)		probably null	Het
Pkhd1l1	TTTT	TTTTTTTTTTTATTT	15: 44,421,901 (GRCm39)		probably benign	Het
Pou2f1	G	A	1: 165,740,800 (GRCm39)	T134I	unknown	Het
Pramel32	T	A	4: 88,546,006 (GRCm39)	R445S	probably damaging	Het
Prss52	A	G	14: 64,350,922 (GRCm39)	S236G	probably damaging	Het
Rpsa	A	G	9: 119,960,105 (GRCm39)	T223A	probably benign	Het
Shprh	A	G	10: 11,040,585 (GRCm39)	N686S	probably benign	Het
Six3	CGG	CGGTGG	17: 85,928,796 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc22a27	C	T	19: 7,903,949 (GRCm39)	G63S	probably benign	Het
Tmcc2	G	T	1: 132,288,756 (GRCm39)	N310K	probably damaging	Het
Tmem144	A	T	3: 79,729,961 (GRCm39)	L263Q	probably damaging	Het
Tpra1	T	C	6: 88,886,324 (GRCm39)	V101A	probably damaging	Het
Troap	T	C	15: 98,973,281 (GRCm39)	S16P	probably benign	Het
Ttn	T	C	2: 76,543,915 (GRCm39)	T33024A	probably benign	Het
Usp2	A	ACATGTGACCTGTTCTTCACTTACT	9: 44,000,427 (GRCm39)		probably benign	Het
Was	CTCCTCCT	C	X: 7,952,470 (GRCm39)		probably null	Het
Zfp672	A	G	11: 58,206,938 (GRCm39)	V461A	probably benign	Het

Other mutations in Akr1e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02667:Akr1e1	APN	13	4,645,666 (GRCm39)	missense	possibly damaging	0.65
IGL02862:Akr1e1	APN	13	4,659,092 (GRCm39)	missense	possibly damaging	0.85
IGL02987:Akr1e1	APN	13	4,643,591 (GRCm39)	missense	probably damaging	0.97
IGL02995:Akr1e1	APN	13	4,647,477 (GRCm39)	splice site	probably benign
R0894:Akr1e1	UTSW	13	4,645,071 (GRCm39)	missense	probably damaging	0.99
R1323:Akr1e1	UTSW	13	4,657,547 (GRCm39)	missense	probably damaging	1.00
R1323:Akr1e1	UTSW	13	4,657,547 (GRCm39)	missense	probably damaging	1.00
R1795:Akr1e1	UTSW	13	4,645,071 (GRCm39)	missense	probably damaging	0.99
R2002:Akr1e1	UTSW	13	4,657,564 (GRCm39)	intron	probably benign
R2872:Akr1e1	UTSW	13	4,652,683 (GRCm39)	synonymous	silent
R6170:Akr1e1	UTSW	13	4,652,723 (GRCm39)	missense	possibly damaging	0.67
R6185:Akr1e1	UTSW	13	4,651,252 (GRCm39)	missense	probably benign	0.09
R6930:Akr1e1	UTSW	13	4,652,714 (GRCm39)	missense	probably damaging	1.00
R7984:Akr1e1	UTSW	13	4,645,679 (GRCm39)	missense	probably damaging	0.96
R8447:Akr1e1	UTSW	13	4,648,793 (GRCm39)	missense	probably damaging	1.00
R9149:Akr1e1	UTSW	13	4,652,678 (GRCm39)	critical splice donor site	probably null
R9540:Akr1e1	UTSW	13	4,657,393 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGACCAGCAGCACAGTTTAC -3'
(R):5'- GGCTGAGTCCTCTGATCTTC -3'

Sequencing Primer
(F):5'- GCAGCACAGTTTACAAAAGAATTC -3'
(R):5'- GCTGATGGCCTTCCTTATAGATAG -3'

Posted On

2019-12-04