Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02470:Akr1c21'

294691

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akr1c21

Ensembl Gene

ENSMUSG00000021207

Gene Name

aldo-keto reductase family 1, member C21

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02470

Quality Score

Status

Chromosome

Chromosomal Location

4574075-4586541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4577407 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 167 (N167Y)

Ref Sequence

ENSEMBL: ENSMUSP00000152465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021628] [ENSMUST00000223285]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021628
AA Change: N167Y

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

SMART Domains

Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: N167Y

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	2.2e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137279

Predicted Effect

probably damaging
Transcript: ENSMUST00000223285
AA Change: N167Y

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,222	M255K	probably damaging	Het
Adcy10	A	G	1: 165,567,726	Y1422C	probably damaging	Het
Adnp	T	A	2: 168,183,194	K727I	probably damaging	Het
Arl4a	T	C	12: 40,036,748		probably benign	Het
BB014433	A	T	8: 15,042,803	F17I	unknown	Het
Best1	T	C	19: 9,992,976	S91G	probably benign	Het
Ccdc148	A	T	2: 59,001,899	S235T	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dcc	A	T	18: 71,955,082		probably benign	Het
Dnajc13	G	A	9: 104,175,747	T1672I	probably benign	Het
Elf3	A	T	1: 135,255,012	F325Y	probably damaging	Het
Enpp2	A	G	15: 54,839,460	L880P	probably damaging	Het
Fndc3b	A	G	3: 27,461,720	Y646H	probably damaging	Het
Fzd6	A	T	15: 39,036,557		probably benign	Het
Gnb1	T	A	4: 155,527,513		probably benign	Het
Mast1	C	A	8: 84,921,212	G511V	probably damaging	Het
Mcmbp	T	C	7: 128,704,621	I424M	possibly damaging	Het
Mobp	A	G	9: 120,168,006	T68A	probably benign	Het
Myh11	T	C	16: 14,218,046	E1006G	probably damaging	Het
Ncstn	A	G	1: 172,082,599		probably null	Het
Olfr1089	A	T	2: 86,733,585	V9E	probably damaging	Het
Olfr340	A	G	2: 36,452,597	D4G	probably benign	Het
Phip	A	T	9: 82,890,454	V1075D	possibly damaging	Het
Serpinb1a	C	T	13: 32,850,393	S5N	probably damaging	Het
Slc15a3	A	G	19: 10,853,170	N295S	probably benign	Het
Trmt13	A	C	3: 116,590,228		probably null	Het
Trp63	A	C	16: 25,820,384		probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Akr1c21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00645:Akr1c21	APN	13	4576313	missense	probably damaging	1.00
IGL01093:Akr1c21	APN	13	4581140	splice site	probably benign
IGL01408:Akr1c21	APN	13	4577432	missense	probably benign
IGL02683:Akr1c21	APN	13	4576313	missense	probably damaging	1.00
IGL02738:Akr1c21	APN	13	4580301	missense	probably damaging	1.00
IGL03126:Akr1c21	APN	13	4577458	missense	possibly damaging	0.76
IGL03365:Akr1c21	APN	13	4583852	missense	probably benign	0.00
R0166:Akr1c21	UTSW	13	4581264	missense	probably damaging	1.00
R0391:Akr1c21	UTSW	13	4581200	missense	probably damaging	1.00
R0505:Akr1c21	UTSW	13	4576307	missense	probably damaging	1.00
R1069:Akr1c21	UTSW	13	4575334	splice site	probably benign
R1168:Akr1c21	UTSW	13	4583837	missense	probably benign	0.04
R1617:Akr1c21	UTSW	13	4576352	splice site	probably null
R1686:Akr1c21	UTSW	13	4577453	missense	probably damaging	1.00
R1694:Akr1c21	UTSW	13	4575178	missense	probably damaging	0.98
R1753:Akr1c21	UTSW	13	4577135	nonsense	probably null
R1977:Akr1c21	UTSW	13	4574212	missense	probably damaging	1.00
R2005:Akr1c21	UTSW	13	4574215	missense	probably damaging	1.00
R2036:Akr1c21	UTSW	13	4576306	missense	probably damaging	0.98
R2198:Akr1c21	UTSW	13	4577465	missense	probably damaging	1.00
R2925:Akr1c21	UTSW	13	4576350	splice site	probably null
R4965:Akr1c21	UTSW	13	4580305	missense	probably damaging	1.00
R6245:Akr1c21	UTSW	13	4575232	missense	possibly damaging	0.93
R6381:Akr1c21	UTSW	13	4574184	missense	probably damaging	1.00
R6711:Akr1c21	UTSW	13	4577375	missense	probably damaging	1.00
R6843:Akr1c21	UTSW	13	4575214	missense	probably damaging	1.00
R6998:Akr1c21	UTSW	13	4583851	missense	probably benign	0.05
R7253:Akr1c21	UTSW	13	4577140	missense	probably damaging	1.00
R7475:Akr1c21	UTSW	13	4576319	missense	probably benign	0.09

Posted On

2015-04-16