Mutagenetix > Incidental Mutation

Incidental Mutation 'R8447:Akr1e1'

654568

Institutional Source

Beutler Lab

Gene Symbol

Akr1e1

Ensembl Gene

ENSMUSG00000045410

Gene Name

aldo-keto reductase family 1, member E1

Synonyms

1810061I10Rik

MMRRC Submission

067902-MU

Accession Numbers

Essential gene?

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

Stock #

R8447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4641122-4659163 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4648793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 167 (L167F)

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: L167F

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

SMART Domains

Protein: ENSMUSP00000089459
Gene: ENSMUSG00000045410
AA Change: L167F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110691
AA Change: L111F

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

SMART Domains

Protein: ENSMUSP00000106319
Gene: ENSMUSG00000045410
AA Change: L111F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	C	5: 8,957,278 (GRCm39)	T136P	probably damaging	Het
Abcc3	A	T	11: 94,254,886 (GRCm39)	L639Q	possibly damaging	Het
Adam10	T	A	9: 70,655,400 (GRCm39)	N289K	probably damaging	Het
Akap12	A	G	10: 4,306,289 (GRCm39)	E1138G	probably benign	Het
Cars1	T	C	7: 143,123,766 (GRCm39)	K506E	possibly damaging	Het
Castor1	T	C	11: 4,170,165 (GRCm39)	V81A	probably damaging	Het
Cfap46	C	A	7: 139,260,902 (GRCm39)	R65S	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Clec16a	C	A	16: 10,559,487 (GRCm39)	T920K	probably benign	Het
Coro2b	C	T	9: 62,333,842 (GRCm39)	E351K	probably damaging	Het
Diablo	T	C	5: 123,655,829 (GRCm39)	E163G	probably damaging	Het
Dnah6	A	G	6: 73,115,757 (GRCm39)	L1547P	probably damaging	Het
Dynll2	G	T	11: 87,874,719 (GRCm39)	D37E	probably benign	Het
Eml4	A	T	17: 83,755,656 (GRCm39)	Q408L	probably damaging	Het
F2rl3	T	C	8: 73,489,963 (GRCm39)	*397R	probably null	Het
Fance	T	A	17: 28,545,155 (GRCm39)	L127Q	unknown	Het
Fat4	T	C	3: 39,033,824 (GRCm39)	V2492A	possibly damaging	Het
Ggta1	C	T	2: 35,292,573 (GRCm39)	D245N	probably damaging	Het
Gli1	T	C	10: 127,166,106 (GRCm39)	N1049S	probably benign	Het
Grin2c	A	G	11: 115,148,215 (GRCm39)	V354A	probably benign	Het
Kank4	T	A	4: 98,666,729 (GRCm39)	I573F	probably damaging	Het
Kdm3a	A	G	6: 71,588,881 (GRCm39)	V376A	probably benign	Het
Kndc1	T	C	7: 139,481,121 (GRCm39)	V69A	probably damaging	Het
Lcmt1	T	A	7: 123,020,825 (GRCm39)	L250Q	probably damaging	Het
Ldhb	A	T	6: 142,444,356 (GRCm39)	V99D	probably damaging	Het
Lepr	T	C	4: 101,671,688 (GRCm39)	V904A	probably benign	Het
Lipe	G	T	7: 25,080,017 (GRCm39)	N710K	probably damaging	Het
Med1	C	A	11: 98,060,240 (GRCm39)	D230Y	probably damaging	Het
Mpv17l	T	A	16: 13,758,864 (GRCm39)	I96K	probably benign	Het
Obox1	A	T	7: 15,289,541 (GRCm39)	Q110L	probably damaging	Het
Or11h6	T	C	14: 50,880,008 (GRCm39)	V84A	probably benign	Het
Or4f4b	T	A	2: 111,314,101 (GRCm39)	Y137N	probably damaging	Het
Or4k37	T	A	2: 111,159,307 (GRCm39)	I181N	possibly damaging	Het
Or5t16	T	A	2: 86,818,885 (GRCm39)	I212F	probably benign	Het
Or6c76	T	G	10: 129,612,371 (GRCm39)	M211R	possibly damaging	Het
Or9s14	C	A	1: 92,535,494 (GRCm39)		probably benign	Het
Pah	T	C	10: 87,417,827 (GRCm39)		probably null	Het
Pate1	A	T	9: 35,597,631 (GRCm39)	N40K	probably benign	Het
Pclo	C	A	5: 14,731,423 (GRCm39)	D182E		Het
Prl7a2	A	T	13: 27,849,941 (GRCm39)	S44T	possibly damaging	Het
Pwp2	T	A	10: 78,007,873 (GRCm39)	D894V	probably benign	Het
Ripor2	T	A	13: 24,907,771 (GRCm39)	L1014Q	probably damaging	Het
Rpe	G	A	1: 66,740,188 (GRCm39)		probably null	Het
Sh2d3c	A	G	2: 32,642,671 (GRCm39)	T706A	probably damaging	Het
Slc34a1	T	C	13: 24,006,309 (GRCm39)	F445S	possibly damaging	Het
Spata20	C	A	11: 94,373,080 (GRCm39)	L515F	probably damaging	Het
Tcf20	G	A	15: 82,737,437 (GRCm39)	S1338F	possibly damaging	Het
Tm9sf2	C	A	14: 122,377,180 (GRCm39)	P236Q	probably damaging	Het
Tmem135	T	C	7: 88,803,240 (GRCm39)	Y311C	probably damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Tmem94	G	T	11: 115,688,023 (GRCm39)	C1190F	possibly damaging	Het
Tmem94	G	A	11: 115,688,696 (GRCm39)	R1301H	probably benign	Het
Zp3	G	A	5: 136,013,244 (GRCm39)	G192E	probably damaging	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
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
RF012:Akr1e1	UTSW	13	4,645,125 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGTTATCTGCCTCCAAAACCATG -3'
(R):5'- ACTCCATGGCAAGTCGCAAAG -3'

Sequencing Primer
(F):5'- AGAGATCTGTGTTATACCCTATCCAC -3'
(R):5'- GCAAAGGAGCGTGGCTTATC -3'

Posted On

2020-10-20