Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02683:Akr1c21'

303446

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 #

IGL02683

Quality Score

Status

Chromosome

Chromosomal Location

4624074-4636540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 4626312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 112 (D112A)

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: D112A

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

SMART Domains

Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: D112A

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: D112A

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	C	8: 111,779,163 (GRCm39)		probably benign	Het
Abhd3	A	G	18: 10,658,790 (GRCm39)	S215P	probably damaging	Het
Adam20	G	A	8: 41,248,621 (GRCm39)	V244M	probably damaging	Het
Ano6	A	T	15: 95,846,193 (GRCm39)	Y498F	probably damaging	Het
Aspscr1	T	C	11: 120,592,052 (GRCm39)	F263S	probably damaging	Het
Capn11	A	G	17: 45,964,517 (GRCm39)	F100S	probably damaging	Het
Cd63	T	C	10: 128,746,299 (GRCm39)	C9R	probably damaging	Het
Cenpj	T	C	14: 56,790,409 (GRCm39)	K547E	possibly damaging	Het
Clasp1	A	G	1: 118,466,996 (GRCm39)	D793G	probably benign	Het
Cmya5	G	A	13: 93,227,505 (GRCm39)	Q2528*	probably null	Het
Crybg1	A	G	10: 43,865,212 (GRCm39)	S1422P	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnal1	G	A	12: 84,185,128 (GRCm39)	G178D	probably damaging	Het
E2f7	T	C	10: 110,618,320 (GRCm39)	M795T	probably benign	Het
Glipr1l2	T	C	10: 111,919,381 (GRCm39)	V34A	probably benign	Het
Gsdmc2	C	T	15: 63,705,261 (GRCm39)	V151M	probably damaging	Het
Htr7	T	C	19: 35,937,762 (GRCm39)	T448A	probably benign	Het
Kcnj5	T	C	9: 32,229,076 (GRCm39)	T41A	possibly damaging	Het
Kcnt1	T	C	2: 25,790,937 (GRCm39)	M12T	possibly damaging	Het
Kif1c	G	A	11: 70,617,278 (GRCm39)	A871T	possibly damaging	Het
Map3k10	T	C	7: 27,358,362 (GRCm39)	K571R	probably damaging	Het
Med23	C	A	10: 24,746,615 (GRCm39)	A45E	probably benign	Het
Nudt5	C	A	2: 5,868,412 (GRCm39)	S103R	probably damaging	Het
Or9m1	T	A	2: 87,733,448 (GRCm39)	T191S	possibly damaging	Het
Parp3	A	G	9: 106,350,384 (GRCm39)	S369P	possibly damaging	Het
Plxna4	A	T	6: 32,494,541 (GRCm39)	L25Q	probably benign	Het
Pon2	A	G	6: 5,269,062 (GRCm39)	V204A	probably damaging	Het
Ppfia1	A	G	7: 144,067,095 (GRCm39)	M463T	probably damaging	Het
Ppp1r14d	T	C	2: 119,049,303 (GRCm39)	E95G	probably damaging	Het
Pramel18	T	C	4: 101,767,551 (GRCm39)	S267P	probably benign	Het
Prrc2a	A	G	17: 35,374,969 (GRCm39)	V1227A	probably benign	Het
Rabgap1	T	A	2: 37,392,951 (GRCm39)	W536R	probably damaging	Het
Slco6d1	A	G	1: 98,408,397 (GRCm39)	N431S	probably benign	Het
Spen	C	T	4: 141,198,956 (GRCm39)	V3224I	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ssh2	A	G	11: 77,289,082 (GRCm39)	D88G	probably damaging	Het
Stat5b	T	G	11: 100,695,772 (GRCm39)	K70T	probably benign	Het
Tex44	A	G	1: 86,355,465 (GRCm39)	D458G	probably benign	Het
Tut1	T	A	19: 8,942,622 (GRCm39)	C570S	probably benign	Het
Usp42	T	C	5: 143,701,101 (GRCm39)	E974G	possibly damaging	Het
Vezf1	A	T	11: 87,967,153 (GRCm39)	Q310L	probably benign	Het
Vmn2r83	A	T	10: 79,327,115 (GRCm39)	R574S	probably benign	Het
Zfp664	T	C	5: 124,963,386 (GRCm39)	V260A	probably benign	Het

Other mutations in Akr1c21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00645:Akr1c21	APN	13	4,626,312 (GRCm39)	missense	probably damaging	1.00
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
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