Mutagenetix > Incidental Mutation

Incidental Mutation 'R6865:Akr1c12'

535877

Institutional Source

Beutler Lab

Gene Symbol

Akr1c12

Ensembl Gene

ENSMUSG00000021211

Gene Name

aldo-keto reductase family 1, member C12

Synonyms

MMRRC Submission

045027-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6865 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4318171-4329398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4320212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 293 (M293L)

Ref Sequence

ENSEMBL: ENSMUSP00000021632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021632]

AlphaFold

Q9JLI0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021632
AA Change: M293L

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: M293L

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	1.1e-63	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	T	C	8: 123,621,683 (GRCm39)	D723G	probably benign	Het
Ankrd26	T	C	6: 118,500,442 (GRCm39)	R1010G	possibly damaging	Het
Apob	G	A	12: 8,058,847 (GRCm39)	R2410H	probably benign	Het
Auh	T	C	13: 52,992,165 (GRCm39)	D275G	probably damaging	Het
Card10	G	T	15: 78,686,822 (GRCm39)	D47E	possibly damaging	Het
Ccdc141	C	T	2: 76,859,579 (GRCm39)		probably null	Het
Cfap206	T	C	4: 34,714,448 (GRCm39)	Y416C	possibly damaging	Het
Chuk	A	T	19: 44,075,354 (GRCm39)	Y500*	probably null	Het
Cop1	T	A	1: 159,136,524 (GRCm39)	D536E	probably damaging	Het
Crh	G	C	3: 19,748,304 (GRCm39)	P113A	possibly damaging	Het
Ddx54	T	G	5: 120,759,892 (GRCm39)		probably null	Het
Efcab7	T	C	4: 99,769,793 (GRCm39)	S127P	probably damaging	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Fga	T	A	3: 82,938,848 (GRCm39)	C408S	probably damaging	Het
Flot2	T	C	11: 77,940,318 (GRCm39)	S22P	probably benign	Het
Fndc1	T	A	17: 7,991,672 (GRCm39)	T675S	unknown	Het
Foxc1	A	G	13: 31,992,836 (GRCm39)	D549G	unknown	Het
Gldc	T	C	19: 30,111,162 (GRCm39)	N538S	possibly damaging	Het
Grk4	T	G	5: 34,888,894 (GRCm39)	V346G	probably damaging	Het
Gucy2c	T	C	6: 136,747,127 (GRCm39)	R111G	probably benign	Het
Heatr6	C	T	11: 83,659,966 (GRCm39)	H504Y	probably damaging	Het
Lrp5	A	T	19: 3,670,013 (GRCm39)		probably null	Het
Msrb1	T	C	17: 24,955,685 (GRCm39)	S2P	possibly damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo3a	A	G	2: 22,464,313 (GRCm39)	I185V	probably benign	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Nek6	A	G	2: 38,459,678 (GRCm39)	I174V	probably benign	Het
Nmt2	T	C	2: 3,315,766 (GRCm39)	V252A	probably damaging	Het
Nudt9	G	T	5: 104,207,545 (GRCm39)	R179M	probably damaging	Het
Nwd1	T	C	8: 73,383,690 (GRCm39)	V29A	possibly damaging	Het
Olah	T	C	2: 3,343,964 (GRCm39)	D216G	possibly damaging	Het
Or13c7b	T	C	4: 43,821,346 (GRCm39)	N5S	probably benign	Het
Or52n2	T	C	7: 104,542,719 (GRCm39)	I39V	probably benign	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pkd1	T	C	17: 24,795,461 (GRCm39)	V2318A	probably benign	Het
Pknox1	T	A	17: 31,807,534 (GRCm39)	M51K	probably damaging	Het
Ppp1r12a	C	T	10: 108,098,242 (GRCm39)	R321*	probably null	Het
Pxdn	A	G	12: 30,064,582 (GRCm39)		probably null	Het
Rab44	A	T	17: 29,358,201 (GRCm39)	I130F	probably benign	Het
Rnf130	T	C	11: 49,962,091 (GRCm39)	I179T	probably damaging	Het
Slc22a28	A	T	19: 8,041,856 (GRCm39)	C450*	probably null	Het
Slco1c1	A	T	6: 141,485,778 (GRCm39)	Y136F	probably damaging	Het
Synj2	C	T	17: 6,067,844 (GRCm39)	Q106*	probably null	Het
Uckl1	T	C	2: 181,216,286 (GRCm39)	N138S	probably damaging	Het
Usp19	G	T	9: 108,376,018 (GRCm39)	E203*	probably null	Het
Vdr	A	G	15: 97,755,386 (GRCm39)	I379T	probably damaging	Het
Zfp503	C	A	14: 22,036,101 (GRCm39)	G272C	probably damaging	Het
Zfyve9	T	C	4: 108,501,558 (GRCm39)	N1218S	possibly damaging	Het
Zzz3	T	A	3: 152,133,690 (GRCm39)	D249E	probably benign	Het

Other mutations in Akr1c12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01479:Akr1c12	APN	13	4,322,934 (GRCm39)	missense	probably benign	0.01
IGL01603:Akr1c12	APN	13	4,322,926 (GRCm39)	critical splice donor site	probably null
IGL01935:Akr1c12	APN	13	4,322,244 (GRCm39)	missense	probably damaging	0.99
IGL02066:Akr1c12	APN	13	4,326,236 (GRCm39)	missense	probably damaging	0.96
IGL02224:Akr1c12	APN	13	4,329,289 (GRCm39)	missense	probably damaging	0.98
IGL02277:Akr1c12	APN	13	4,322,268 (GRCm39)	missense	probably damaging	1.00
IGL02425:Akr1c12	APN	13	4,323,749 (GRCm39)	missense	probably damaging	1.00
IGL02884:Akr1c12	APN	13	4,322,211 (GRCm39)	missense	possibly damaging	0.52
IGL02959:Akr1c12	APN	13	4,329,331 (GRCm39)	missense	probably benign
IGL03075:Akr1c12	APN	13	4,322,254 (GRCm39)	missense	probably damaging	1.00
R1216:Akr1c12	UTSW	13	4,326,322 (GRCm39)	missense	probably benign	0.10
R1302:Akr1c12	UTSW	13	4,322,328 (GRCm39)	missense	probably damaging	1.00
R1520:Akr1c12	UTSW	13	4,326,298 (GRCm39)	missense	probably damaging	1.00
R2213:Akr1c12	UTSW	13	4,326,247 (GRCm39)	missense	probably damaging	0.99
R3944:Akr1c12	UTSW	13	4,329,339 (GRCm39)	missense	probably benign
R4671:Akr1c12	UTSW	13	4,323,816 (GRCm39)	missense	possibly damaging	0.88
R6237:Akr1c12	UTSW	13	4,325,767 (GRCm39)	missense	possibly damaging	0.51
R6266:Akr1c12	UTSW	13	4,320,206 (GRCm39)	missense	probably benign
R6467:Akr1c12	UTSW	13	4,325,772 (GRCm39)	missense	probably benign	0.10
R6826:Akr1c12	UTSW	13	4,325,733 (GRCm39)	missense	probably benign	0.06
R6874:Akr1c12	UTSW	13	4,322,959 (GRCm39)	missense	probably benign	0.22
R7574:Akr1c12	UTSW	13	4,329,309 (GRCm39)	missense	probably damaging	1.00
R8030:Akr1c12	UTSW	13	4,322,244 (GRCm39)	missense	possibly damaging	0.93
R8242:Akr1c12	UTSW	13	4,322,269 (GRCm39)	nonsense	probably null
R8295:Akr1c12	UTSW	13	4,322,355 (GRCm39)	missense	probably benign	0.02
R8530:Akr1c12	UTSW	13	4,320,160 (GRCm39)	missense	probably benign
R8749:Akr1c12	UTSW	13	4,320,155 (GRCm39)	splice site	probably benign
R9420:Akr1c12	UTSW	13	4,325,796 (GRCm39)	missense	probably damaging	1.00
Z1177:Akr1c12	UTSW	13	4,322,953 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTATCTCCATGGGAAATATTCTGC -3'
(R):5'- TACCCATTGTCTGTGGTATTATGC -3'

Sequencing Primer
(F):5'- CCATGGGAAATATTCTGCAAATAGGC -3'
(R):5'- AGCAATTTCTGTCATTTTTACTTGG -3'

Posted On

2018-10-18