Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02066:Akr1c12'

185646

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akr1c12

Ensembl Gene

ENSMUSG00000021211

Gene Name

aldo-keto reductase family 1, member C12

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02066

Quality Score

Status

Chromosome

Chromosomal Location

4318171-4329398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4326236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 82 (T82A)

Ref Sequence

ENSEMBL: ENSMUSP00000021632 (fasta)

Gene Model

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

AlphaFold

Q9JLI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021632
AA Change: T82A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: T82A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,626,854 (GRCm39)	C569S	probably damaging	Het
Adck5	T	C	15: 76,479,406 (GRCm39)	V487A	probably damaging	Het
Agfg1	A	G	1: 82,871,279 (GRCm39)	T483A	probably damaging	Het
Ano2	T	A	6: 125,667,702 (GRCm39)	L6Q	probably benign	Het
Anp32a	G	A	9: 62,284,615 (GRCm39)		probably benign	Het
Bltp2	G	A	11: 78,164,058 (GRCm39)	R1133H	probably damaging	Het
Cep250	C	A	2: 155,818,441 (GRCm39)	A871D	probably damaging	Het
Chl1	T	C	6: 103,675,185 (GRCm39)	V624A	probably benign	Het
Clasp1	G	A	1: 118,492,990 (GRCm39)		probably null	Het
Clca3a2	T	G	3: 144,519,216 (GRCm39)	D320A	probably benign	Het
Cnot9	A	G	1: 74,566,212 (GRCm39)	Q201R	possibly damaging	Het
Cox4i2	C	T	2: 152,602,602 (GRCm39)	R99C	probably damaging	Het
Csmd1	A	T	8: 15,976,594 (GRCm39)	F2875I	probably damaging	Het
Dpagt1	A	G	9: 44,243,203 (GRCm39)	Y246C	probably damaging	Het
Dsc1	A	G	18: 20,241,860 (GRCm39)		probably benign	Het
Eef1d	G	A	15: 75,768,704 (GRCm39)	T464I	probably benign	Het
Efna2	C	T	10: 80,024,500 (GRCm39)		probably benign	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Etaa1	C	A	11: 17,896,687 (GRCm39)	V477L	probably benign	Het
Fam83d	C	T	2: 158,627,793 (GRCm39)	T494M	probably benign	Het
Fbxo24	C	T	5: 137,611,132 (GRCm39)	V553M	probably damaging	Het
Gal3st2	A	G	1: 93,801,379 (GRCm39)	T12A	probably damaging	Het
Gba2	G	A	4: 43,570,175 (GRCm39)	T373I	probably benign	Het
Kitl	T	A	10: 99,912,744 (GRCm39)	C154S	probably damaging	Het
Lrp1b	A	T	2: 41,001,091 (GRCm39)	C2044*	probably null	Het
Lrp6	G	T	6: 134,427,900 (GRCm39)	S1564*	probably null	Het
Manea	A	T	4: 26,340,965 (GRCm39)		probably benign	Het
Myt1	T	C	2: 181,438,982 (GRCm39)	L168P	probably damaging	Het
Notch1	T	C	2: 26,350,408 (GRCm39)	E2244G	possibly damaging	Het
Nsd3	T	G	8: 26,203,515 (GRCm39)	V1343G	probably damaging	Het
Nup155	T	C	15: 8,187,250 (GRCm39)		probably benign	Het
Obox6	T	C	7: 15,568,628 (GRCm39)	I83V	probably benign	Het
Or12k5	A	T	2: 36,895,321 (GRCm39)	F102I	probably damaging	Het
Or13a24	A	T	7: 140,154,413 (GRCm39)	T116S	possibly damaging	Het
Pdgfra	T	C	5: 75,331,241 (GRCm39)	V282A	possibly damaging	Het
Pkd1l2	A	G	8: 117,736,303 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,268,365 (GRCm39)	I971F	possibly damaging	Het
Ppp6c	T	C	2: 39,089,683 (GRCm39)	T199A	probably benign	Het
Ptpra	A	G	2: 30,333,308 (GRCm39)	T3A	possibly damaging	Het
Rb1	A	T	14: 73,435,974 (GRCm39)	M897K	probably benign	Het
Rptn	A	C	3: 93,304,436 (GRCm39)	S590R	probably benign	Het
Rreb1	A	G	13: 38,115,482 (GRCm39)	D947G	probably benign	Het
Samd9l	T	C	6: 3,376,575 (GRCm39)	T229A	probably damaging	Het
Slc5a9	A	T	4: 111,744,719 (GRCm39)	M423K	probably damaging	Het
Slc6a12	T	A	6: 121,329,015 (GRCm39)	I111N	probably damaging	Het
Slc6a15	T	A	10: 103,252,519 (GRCm39)	L561I	probably damaging	Het
Spag5	A	G	11: 78,195,358 (GRCm39)	N222D	probably benign	Het
Spp2	G	A	1: 88,344,965 (GRCm39)	M54I	probably benign	Het
Sptbn4	T	C	7: 27,063,940 (GRCm39)	E847G	possibly damaging	Het
Timd2	T	A	11: 46,569,050 (GRCm39)	N203Y	probably damaging	Het
Togaram1	G	T	12: 65,030,195 (GRCm39)	D1000Y	probably damaging	Het
Usp47	C	T	7: 111,663,604 (GRCm39)	R258C	probably damaging	Het
Uts2r	A	C	11: 121,051,523 (GRCm39)	D129A	probably damaging	Het
Vmn2r102	G	A	17: 19,914,191 (GRCm39)	M585I	probably benign	Het
Vmn2r77	A	T	7: 86,452,836 (GRCm39)	R518*	probably null	Het
Wdfy4	C	T	14: 32,871,523 (GRCm39)	R296K	probably benign	Het
Xirp2	A	T	2: 67,356,415 (GRCm39)	K3725N	probably benign	Het
Xntrpc	T	C	7: 101,727,036 (GRCm39)	S142P	probably benign	Het
Zfat	T	C	15: 68,052,678 (GRCm39)	H372R	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
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
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

Posted On

2014-05-07