Mutagenetix > Incidental Mutation

Incidental Mutation 'R6826:Akr1c12'

534181

Institutional Source

Beutler Lab

Gene Symbol

Akr1c12

Ensembl Gene

ENSMUSG00000021211

Gene Name

aldo-keto reductase family 1, member C12

Synonyms

MMRRC Submission

045019-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6826 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4318171-4329398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4325733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 120 (V120A)

Ref Sequence

ENSEMBL: ENSMUSP00000021632 (fasta)

Gene Model

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

AlphaFold

Q9JLI0

Predicted Effect

probably benign
Transcript: ENSMUST00000021632
AA Change: V120A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: V120A

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: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,107,431 (GRCm39)	N728S	probably benign	Het
Acaca	T	C	11: 84,086,362 (GRCm39)	S63P	probably damaging	Het
Ap4b1	G	A	3: 103,720,224 (GRCm39)		probably null	Het
Apol7e	T	A	15: 77,602,491 (GRCm39)	V363D	probably damaging	Het
Bmpr1b	A	T	3: 141,563,167 (GRCm39)	L259Q	probably damaging	Het
Cdhr17	A	G	5: 17,013,292 (GRCm39)	I219V	unknown	Het
Clca3a2	T	C	3: 144,523,815 (GRCm39)	T57A	possibly damaging	Het
Copb1	T	C	7: 113,825,954 (GRCm39)	T677A	probably benign	Het
Crhr2	T	C	6: 55,094,725 (GRCm39)		probably benign	Het
Cyp11a1	A	G	9: 57,932,370 (GRCm39)	T228A	probably damaging	Het
Dnah1	T	C	14: 31,008,247 (GRCm39)	I2084V	probably benign	Het
Dnajc17	T	C	2: 119,011,408 (GRCm39)	K174R	probably damaging	Het
Dnm2	T	A	9: 21,415,767 (GRCm39)	Y646*	probably null	Het
Dock9	G	A	14: 121,860,330 (GRCm39)	P866L	probably damaging	Het
Elmo3	A	T	8: 106,033,378 (GRCm39)	I115F	probably damaging	Het
Elmod1	T	C	9: 53,826,883 (GRCm39)	T268A	probably benign	Het
F10	T	C	8: 13,096,165 (GRCm39)		probably null	Het
Fmo4	C	T	1: 162,631,338 (GRCm39)	V210M	probably damaging	Het
Foxred2	G	T	15: 77,831,285 (GRCm39)	H509Q	probably benign	Het
Hyal6	A	G	6: 24,734,371 (GRCm39)	I101M	probably damaging	Het
Igkv5-48	T	C	6: 69,703,584 (GRCm39)	Y107C	probably damaging	Het
Jag1	A	G	2: 136,958,095 (GRCm39)		probably null	Het
Leng8	T	A	7: 4,148,319 (GRCm39)	V697E	probably damaging	Het
Mdga1	T	C	17: 30,189,000 (GRCm39)	N21S	unknown	Het
Midn	T	A	10: 79,989,961 (GRCm39)	C126*	probably null	Het
Mlh3	A	T	12: 85,292,598 (GRCm39)	V1303E	probably benign	Het
Myh4	T	C	11: 67,137,357 (GRCm39)	L526P	probably damaging	Het
Or10ag55-ps1	G	A	2: 87,114,672 (GRCm39)	E13K	probably benign	Het
Or5b3	T	A	19: 13,388,452 (GRCm39)	V173E	probably benign	Het
Pde6b	C	T	5: 108,578,458 (GRCm39)	R799*	probably null	Het
Pde9a	A	G	17: 31,685,414 (GRCm39)	D382G	probably benign	Het
Pdrg1	A	C	2: 152,852,176 (GRCm39)		probably null	Het
Peg10	C	CATCAGGATG	6: 4,756,353 (GRCm39)		probably benign	Het
Ppp1r3a	C	A	6: 14,718,980 (GRCm39)	E645*	probably null	Het
Prrc2b	A	G	2: 32,112,300 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,153,277 (GRCm39)	M578K	probably benign	Het
Rasgrp3	G	T	17: 75,810,241 (GRCm39)	V314F	probably damaging	Het
Rps9	C	A	7: 3,708,775 (GRCm39)	D84E	probably benign	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Serpina1e	A	G	12: 103,915,397 (GRCm39)	F270L	probably benign	Het
Slc24a5	G	A	2: 124,910,778 (GRCm39)	V70I	probably benign	Het
Slfn14	C	A	11: 83,172,644 (GRCm39)		probably null	Het
Smcr8	G	T	11: 60,669,688 (GRCm39)	D279Y	possibly damaging	Het
Snx16	A	T	3: 10,503,148 (GRCm39)	V33D	probably damaging	Het
Tesc	A	G	5: 118,194,483 (GRCm39)	T131A	probably damaging	Het
Tnfaip8l3	G	T	9: 53,934,783 (GRCm39)	T64K	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,567 (GRCm39)	Y809*	probably null	Het
Vmn2r25	A	G	6: 123,800,071 (GRCm39)	V757A	probably damaging	Het
Vmn2r3	A	T	3: 64,182,327 (GRCm39)	Y457*	probably null	Het
Wee1	T	C	7: 109,723,870 (GRCm39)		probably null	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zfp541	A	G	7: 15,812,907 (GRCm39)	E520G	probably damaging	Het
Zfp579	G	T	7: 4,997,425 (GRCm39)	A162D	probably benign	Het
Zfp811	A	G	17: 33,016,762 (GRCm39)	F425S	probably damaging	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
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'- GGACGTCACTTCTAAGCTGTG -3'
(R):5'- AGAGAGAAGACCTGTTCATCAC -3'

Sequencing Primer
(F):5'- GACGTCACTTCTAAGCTGTGATTCTG -3'
(R):5'- CAAAGGTATAGTATGCAGATCACTG -3'

Posted On

2018-09-12