Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00645:Akr1c21'

277847

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akr1c21

Ensembl Gene

ENSMUSG00000021207

Gene Name

aldo-keto reductase family 1, member C21

Synonyms

9430025F20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL00645

Quality Score

Status

Chromosome

Chromosomal Location

4624074-4636540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4626312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 112 (D112G)

Ref Sequence

ENSEMBL: ENSMUSP00000152465 (fasta)

Gene Model

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

AlphaFold

Q91WR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021628
AA Change: D112G

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

SMART Domains

Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: D112G

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: D112G

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd2	T	C	3: 101,190,539 (GRCm39)	N135D	probably damaging	Het
Coq10b	A	G	1: 55,100,468 (GRCm39)	T51A	probably benign	Het
Cst5	T	A	2: 149,251,899 (GRCm39)	C125S	probably damaging	Het
Fam135b	A	G	15: 71,334,395 (GRCm39)	V933A	probably damaging	Het
Fbn1	A	G	2: 125,159,023 (GRCm39)		probably benign	Het
Kcna10	G	A	3: 107,102,781 (GRCm39)	E471K	possibly damaging	Het
Msl1	T	A	11: 98,696,247 (GRCm39)	C598S	probably damaging	Het
Nup35	T	A	2: 80,485,176 (GRCm39)	F192L	probably damaging	Het
Sec16b	T	A	1: 157,394,289 (GRCm39)	V1026D	probably damaging	Het
Serpina3f	T	C	12: 104,183,599 (GRCm39)	F154L	probably benign	Het

Other mutations in Akr1c21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Akr1c21	APN	13	4,631,139 (GRCm39)	splice site	probably benign
IGL01408:Akr1c21	APN	13	4,627,431 (GRCm39)	missense	probably benign
IGL02470:Akr1c21	APN	13	4,627,406 (GRCm39)	missense	probably damaging	1.00
IGL02683:Akr1c21	APN	13	4,626,312 (GRCm39)	missense	probably damaging	1.00
IGL02738:Akr1c21	APN	13	4,630,300 (GRCm39)	missense	probably damaging	1.00
IGL03126:Akr1c21	APN	13	4,627,457 (GRCm39)	missense	possibly damaging	0.76
IGL03365:Akr1c21	APN	13	4,633,851 (GRCm39)	missense	probably benign	0.00
R0166:Akr1c21	UTSW	13	4,631,263 (GRCm39)	missense	probably damaging	1.00
R0391:Akr1c21	UTSW	13	4,631,199 (GRCm39)	missense	probably damaging	1.00
R0505:Akr1c21	UTSW	13	4,626,306 (GRCm39)	missense	probably damaging	1.00
R1069:Akr1c21	UTSW	13	4,625,333 (GRCm39)	splice site	probably benign
R1168:Akr1c21	UTSW	13	4,633,836 (GRCm39)	missense	probably benign	0.04
R1617:Akr1c21	UTSW	13	4,626,351 (GRCm39)	splice site	probably null
R1686:Akr1c21	UTSW	13	4,627,452 (GRCm39)	missense	probably damaging	1.00
R1694:Akr1c21	UTSW	13	4,625,177 (GRCm39)	missense	probably damaging	0.98
R1753:Akr1c21	UTSW	13	4,627,134 (GRCm39)	nonsense	probably null
R1977:Akr1c21	UTSW	13	4,624,211 (GRCm39)	missense	probably damaging	1.00
R2005:Akr1c21	UTSW	13	4,624,214 (GRCm39)	missense	probably damaging	1.00
R2036:Akr1c21	UTSW	13	4,626,305 (GRCm39)	missense	probably damaging	0.98
R2198:Akr1c21	UTSW	13	4,627,464 (GRCm39)	missense	probably damaging	1.00
R2925:Akr1c21	UTSW	13	4,626,349 (GRCm39)	splice site	probably null
R4965:Akr1c21	UTSW	13	4,630,304 (GRCm39)	missense	probably damaging	1.00
R6245:Akr1c21	UTSW	13	4,625,231 (GRCm39)	missense	possibly damaging	0.93
R6381:Akr1c21	UTSW	13	4,624,183 (GRCm39)	missense	probably damaging	1.00
R6711:Akr1c21	UTSW	13	4,627,374 (GRCm39)	missense	probably damaging	1.00
R6843:Akr1c21	UTSW	13	4,625,213 (GRCm39)	missense	probably damaging	1.00
R6998:Akr1c21	UTSW	13	4,633,850 (GRCm39)	missense	probably benign	0.05
R7253:Akr1c21	UTSW	13	4,627,139 (GRCm39)	missense	probably damaging	1.00
R7475:Akr1c21	UTSW	13	4,626,318 (GRCm39)	missense	probably benign	0.09
R8389:Akr1c21	UTSW	13	4,626,278 (GRCm39)	missense	probably damaging	0.96
R8391:Akr1c21	UTSW	13	4,626,278 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16