Mutagenetix > Incidental Mutation

Incidental Mutation 'R3944:Akr1c12'

307614

Institutional Source

Beutler Lab

Gene Symbol

Akr1c12

Ensembl Gene

ENSMUSG00000021211

Gene Name

aldo-keto reductase family 1, member C12

Synonyms

MMRRC Submission

040925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4318171-4329398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4329339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 6 (H6L)

Ref Sequence

ENSEMBL: ENSMUSP00000021632 (fasta)

Gene Model

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

AlphaFold

Q9JLI0

Predicted Effect

probably benign
Transcript: ENSMUST00000021632
AA Change: H6L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: H6L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
6430548M08Rik	T	C	8: 120,879,241 (GRCm39)	L213P	probably damaging	Het
Akap12	A	G	10: 4,307,347 (GRCm39)	K1491E	probably benign	Het
Ankrd50	C	T	3: 38,506,645 (GRCm39)	C251Y	probably benign	Het
Bltp1	A	G	3: 37,084,210 (GRCm39)	I3876V	possibly damaging	Het
Bltp2	T	A	11: 78,160,350 (GRCm39)	L603*	probably null	Het
Calu	T	C	6: 29,361,710 (GRCm39)	S125P	possibly damaging	Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Clip1	T	C	5: 123,755,892 (GRCm39)		probably benign	Het
Cntn4	T	G	6: 106,595,375 (GRCm39)	N497K	probably benign	Het
Cspg4	T	A	9: 56,793,407 (GRCm39)	C381S	probably damaging	Het
Cyp1a2	T	C	9: 57,589,151 (GRCm39)	N221S	probably benign	Het
Dnaaf5	C	T	5: 139,138,679 (GRCm39)		probably benign	Het
Dnah7b	A	G	1: 46,176,645 (GRCm39)	D755G	probably damaging	Het
Dscam	A	T	16: 96,622,197 (GRCm39)	V418E	probably damaging	Het
Eefsec	T	A	6: 88,275,076 (GRCm39)	H296L	probably benign	Het
Elmo3	T	C	8: 106,035,852 (GRCm39)		probably null	Het
Gcm1	C	T	9: 77,967,098 (GRCm39)	Q106*	probably null	Het
Gnl1	G	T	17: 36,299,413 (GRCm39)	G528V	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
H2-T23	A	G	17: 36,341,535 (GRCm39)	V312A	probably benign	Het
Hectd4	C	A	5: 121,441,588 (GRCm39)		probably benign	Het
Hoxa7	T	A	6: 52,193,606 (GRCm39)		probably benign	Het
Ifnlr1	T	A	4: 135,428,539 (GRCm39)	V122E	probably damaging	Het
Kcnt2	T	C	1: 140,512,025 (GRCm39)	M1036T	probably damaging	Het
Khdc1b	G	T	1: 21,455,030 (GRCm39)	K96N	probably damaging	Het
Kif19a	A	T	11: 114,677,561 (GRCm39)	Y578F	probably benign	Het
Krt4	G	A	15: 101,829,685 (GRCm39)	T281M	probably benign	Het
Lyl1	A	C	8: 85,430,631 (GRCm39)	T178P	probably damaging	Het
Marchf6	A	G	15: 31,488,960 (GRCm39)	V317A	probably benign	Het
Mmp1b	G	A	9: 7,384,708 (GRCm39)	T280I	possibly damaging	Het
Mpi	T	C	9: 57,452,536 (GRCm39)	D332G	probably damaging	Het
Naip6	T	C	13: 100,431,247 (GRCm39)	T1197A	probably benign	Het
Ntng2	G	A	2: 29,094,289 (GRCm39)	L361F	probably benign	Het
Obscn	A	T	11: 59,023,373 (GRCm39)	I668N	probably damaging	Het
Or52x1	A	T	7: 104,853,162 (GRCm39)	C129*	probably null	Het
Or8k40	A	G	2: 86,584,525 (GRCm39)	S186P	probably benign	Het
Pabpc1l	A	G	2: 163,884,247 (GRCm39)	E328G	probably damaging	Het
Pan3	A	T	5: 147,387,540 (GRCm39)	N170Y	probably damaging	Het
Prdm2	C	T	4: 142,858,385 (GRCm39)	R1635Q	possibly damaging	Het
Rassf6	G	T	5: 90,752,185 (GRCm39)	Q258K	possibly damaging	Het
Ribc2	A	G	15: 85,019,451 (GRCm39)	M78V	probably benign	Het
Rp9	A	C	9: 22,361,154 (GRCm39)	H44Q	probably damaging	Het
Skint5	T	A	4: 113,799,950 (GRCm39)	H73L	probably damaging	Het
Slc6a12	A	T	6: 121,331,239 (GRCm39)		probably null	Het
Smg6	G	A	11: 74,820,367 (GRCm39)	G213R	probably damaging	Het
Spout1	A	G	2: 30,064,148 (GRCm39)	V372A	probably benign	Het
Svep1	T	A	4: 58,084,807 (GRCm39)		probably null	Het
Tab1	T	C	15: 80,037,941 (GRCm39)	L258P	probably damaging	Het
Tbl3	A	G	17: 24,919,682 (GRCm39)	S791P	possibly damaging	Het
Tcof1	C	A	18: 60,955,909 (GRCm39)	D927Y	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Topaz1	T	C	9: 122,579,669 (GRCm39)	S860P	possibly damaging	Het
Vill	T	C	9: 118,897,499 (GRCm39)	I258T	probably benign	Het
Vmn1r204	G	A	13: 22,741,014 (GRCm39)	R215H	probably benign	Het
Vmn2r106	A	T	17: 20,487,913 (GRCm39)	F829I	probably damaging	Het
Vmn2r14	A	T	5: 109,363,930 (GRCm39)	I662N	probably damaging	Het
Vmn2r58	A	T	7: 41,513,885 (GRCm39)	F253I	probably benign	Het
Vps8	A	T	16: 21,288,873 (GRCm39)	N411Y	probably damaging	Het
Zfp932	T	A	5: 110,157,820 (GRCm39)	V506E	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
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
R6865:Akr1c12	UTSW	13	4,320,212 (GRCm39)	missense	possibly damaging	0.79
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'- AGCTCAGTCTCTTACCCATAGC -3'
(R):5'- TAAACATTAGCCAGTGAGTAGGC -3'

Sequencing Primer
(F):5'- TAGCCACCAATTACAGCTGTTACTG -3'
(R):5'- AGTAGGCATGGCTAACTTTCAG -3'

Posted On

2015-04-17