Mutagenetix > Incidental Mutation

Incidental Mutation 'R6381:Akr1c21'

515330

Institutional Source

Beutler Lab

Gene Symbol

Akr1c21

Ensembl Gene

ENSMUSG00000021207

Gene Name

aldo-keto reductase family 1, member C21

Synonyms

9430025F20Rik

MMRRC Submission

044530-MU

Accession Numbers

Essential gene?

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

Stock #

R6381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4624074-4636540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4624183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 12 (D12E)

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: D12E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: D12E

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: D12E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,788 (GRCm39)	M365L	probably damaging	Het
Aars2	A	G	17: 45,829,471 (GRCm39)	E786G	probably benign	Het
Adamts12	G	T	15: 11,257,080 (GRCm39)	V478F	possibly damaging	Het
Aplf	A	T	6: 87,635,959 (GRCm39)	M118K	probably damaging	Het
Apobec1	A	G	6: 122,555,890 (GRCm39)	L189P	probably damaging	Het
BC061237	A	G	14: 44,741,713 (GRCm39)	Q152R	possibly damaging	Het
Bche	A	G	3: 73,609,132 (GRCm39)	I98T	probably benign	Het
Cc2d2a	G	T	5: 43,873,118 (GRCm39)	R983L	possibly damaging	Het
Ccnd3	T	C	17: 47,816,149 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,944,435 (GRCm39)	C215F	probably damaging	Het
Cep97	C	T	16: 55,742,534 (GRCm39)	A138T	probably damaging	Het
Ces1e	T	A	8: 93,944,206 (GRCm39)	N204I	probably damaging	Het
Dicer1	T	C	12: 104,662,721 (GRCm39)	D1620G	probably benign	Het
Dnah17	A	G	11: 118,020,011 (GRCm39)	V12A	probably benign	Het
Dstyk	T	A	1: 132,384,503 (GRCm39)		probably null	Het
Elapor1	T	C	3: 108,389,130 (GRCm39)	K222E	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Entr1	A	G	2: 26,275,093 (GRCm39)		probably null	Het
Gm10570	G	T	4: 130,202,021 (GRCm39)		probably benign	Het
Gm7145	C	T	1: 117,913,669 (GRCm39)	Q184*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gtse1	G	A	15: 85,746,349 (GRCm39)	R55H	probably benign	Het
Hdac4	G	T	1: 91,912,247 (GRCm39)	Q381K	possibly damaging	Het
Ifit3b	T	C	19: 34,589,871 (GRCm39)	I349T	probably benign	Het
Inpp5a	A	T	7: 138,980,589 (GRCm39)	D9V	probably benign	Het
Irs1	T	C	1: 82,265,405 (GRCm39)	N937S	possibly damaging	Het
Kcna4	T	C	2: 107,125,317 (GRCm39)	M17T	probably benign	Het
Lipa	T	A	19: 34,502,146 (GRCm39)	M33L	probably benign	Het
Marchf6	G	T	15: 31,467,838 (GRCm39)	Q790K	probably benign	Het
Mccc1	G	A	3: 36,030,876 (GRCm39)	P397S	probably benign	Het
Mrgprb2	T	C	7: 48,202,138 (GRCm39)	I196V	probably benign	Het
Myh15	T	A	16: 48,921,844 (GRCm39)	S463R	probably damaging	Het
Nab2	T	C	10: 127,500,220 (GRCm39)	K291E	probably damaging	Het
Neto2	T	C	8: 86,369,138 (GRCm39)	T294A	probably damaging	Het
Nkx1-1	T	C	5: 33,591,320 (GRCm39)	M1V	probably null	Het
Or2h2	C	T	17: 37,396,977 (GRCm39)	V27I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Psmd2	A	G	16: 20,474,023 (GRCm39)	E242G	probably benign	Het
Rnase12	A	C	14: 51,294,551 (GRCm39)	Y43D	probably damaging	Het
Rpl18	T	A	7: 45,369,016 (GRCm39)	F58I	probably damaging	Het
Ryr1	T	G	7: 28,774,682 (GRCm39)	M2313L	possibly damaging	Het
Scn4a	G	T	11: 106,211,137 (GRCm39)	Q1627K	probably damaging	Het
Scnn1g	A	G	7: 121,366,722 (GRCm39)	S640G	probably benign	Het
Sdr9c7	T	A	10: 127,739,542 (GRCm39)	M219K	probably benign	Het
Soat1	A	T	1: 156,263,373 (GRCm39)	M392K	probably damaging	Het
Spata18	G	T	5: 73,832,559 (GRCm39)	K337N	probably damaging	Het
Supt16	A	G	14: 52,417,003 (GRCm39)	V325A	probably benign	Het
Syt2	A	G	1: 134,674,588 (GRCm39)	E342G	probably damaging	Het
Tars2	A	T	3: 95,661,799 (GRCm39)	L37*	probably null	Het
Tep1	T	C	14: 51,082,888 (GRCm39)	D1040G	probably damaging	Het
Tmc8	A	T	11: 117,682,426 (GRCm39)	S613C	probably null	Het
Top3a	C	T	11: 60,634,849 (GRCm39)	C660Y	probably damaging	Het
Tpsg1	C	T	17: 25,591,543 (GRCm39)	R48C	probably damaging	Het
Vmn2r57	T	C	7: 41,078,242 (GRCm39)	N72S	probably benign	Het
Whrn	G	A	4: 63,390,921 (GRCm39)	T269I	probably benign	Het
Zfp759	T	A	13: 67,286,969 (GRCm39)	Y173*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCTAACTGGATCTCACTTCTTTC -3'
(R):5'- TAAAGGGCTCACACACCTTATC -3'

Sequencing Primer
(F):5'- CACTTCTTTCTAACTTGTGTAAACAC -3'
(R):5'- TATTGCAATAATAGCTTTCCCAGTTG -3'

Posted On

2018-05-04