Mutagenetix > Incidental Mutation

Incidental Mutation 'R0480:Akr1a1'

41904

Institutional Source

Beutler Lab

Gene Symbol

Akr1a1

Ensembl Gene

ENSMUSG00000028692

Gene Name

aldo-keto reductase family 1, member A1

Synonyms

Akr1a4, 2610201A18Rik

MMRRC Submission

038680-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.471) question?

Stock #

R0480 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

116493707-116508871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116497044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 172 (V172A)

Ref Sequence

ENSEMBL: ENSMUSP00000114861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030455] [ENSMUST00000128059]

AlphaFold

Q9JII6

Predicted Effect

probably benign
Transcript: ENSMUST00000030455
AA Change: V172A

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030455
Gene: ENSMUSG00000028692
AA Change: V172A

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	16	294	1.4e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128010

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128059
AA Change: V172A

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114861
Gene: ENSMUSG00000028692
AA Change: V172A

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	16	204	3.7e-43	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (117/118)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased osteoporosis in response to pregnancy or castration in the absence of dietary ascorbate. Mice homozygous for a knock-out allele exhibit reduced asorbic acid levels and DL-glyceraldehyde, glucuronolactone and glucuronate reductase activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,012 (GRCm39)	L165F	probably damaging	Het
Adamts18	A	G	8: 114,465,450 (GRCm39)	V714A	possibly damaging	Het
Adamtsl1	G	T	4: 86,171,055 (GRCm39)	A518S	probably benign	Het
Adcy2	C	T	13: 68,880,231 (GRCm39)	V363M	probably damaging	Het
Ago4	G	T	4: 126,419,870 (GRCm39)	Q36K	probably benign	Het
Alkbh2	T	A	5: 114,263,596 (GRCm39)	N137I	probably damaging	Het
Ank3	T	A	10: 69,715,756 (GRCm39)	S470T	probably damaging	Het
Ankrd12	T	C	17: 66,356,823 (GRCm39)	T65A	possibly damaging	Het
Aox1	A	T	1: 58,082,810 (GRCm39)		probably benign	Het
Arhgap11a	A	T	2: 113,670,163 (GRCm39)	I320N	probably benign	Het
Arhgap17	G	A	7: 122,893,867 (GRCm39)	H518Y	probably damaging	Het
Ascc3	T	C	10: 50,611,348 (GRCm39)	V1563A	probably damaging	Het
Atf2	G	A	2: 73,649,500 (GRCm39)		probably benign	Het
Bmpr2	C	T	1: 59,884,818 (GRCm39)	T268I	probably damaging	Het
Bpifb9a	A	G	2: 154,106,608 (GRCm39)	I380V	probably benign	Het
C2cd2	G	A	16: 97,678,348 (GRCm39)	T363I	probably benign	Het
Catsperg2	T	G	7: 29,420,723 (GRCm39)	N190H	probably damaging	Het
Ccdc138	T	C	10: 58,397,789 (GRCm39)	L543S	probably damaging	Het
Ccdc170	A	T	10: 4,468,939 (GRCm39)	K162N	probably benign	Het
Cdca5	G	T	19: 6,140,328 (GRCm39)	R163L	probably damaging	Het
Cdh24	A	G	14: 54,870,054 (GRCm39)	F239S	probably benign	Het
Cdkl3	T	C	11: 51,895,882 (GRCm39)	V43A	probably damaging	Het
Cep152	G	T	2: 125,423,639 (GRCm39)	Q921K	possibly damaging	Het
Cftr	G	A	6: 18,274,517 (GRCm39)		probably benign	Het
Chmp5	T	C	4: 40,948,690 (GRCm39)		probably benign	Het
Cit	T	A	5: 116,071,452 (GRCm39)		probably benign	Het
Cngb3	T	A	4: 19,309,517 (GRCm39)		probably benign	Het
Cnr2	A	G	4: 135,644,912 (GRCm39)	E330G	probably benign	Het
Cyp21a1	A	T	17: 35,020,800 (GRCm39)	L473Q	probably damaging	Het
Dchs1	T	C	7: 105,420,696 (GRCm39)	T575A	probably benign	Het
Dedd2	A	G	7: 24,903,050 (GRCm39)	V303A	probably damaging	Het
Dmd	G	T	X: 83,469,344 (GRCm39)	A2370S	probably benign	Het
Dnah10	T	A	5: 124,885,915 (GRCm39)	N3009K	probably damaging	Het
Dnajc13	G	T	9: 104,077,708 (GRCm39)	N934K	probably damaging	Het
Dock1	C	T	7: 134,339,447 (GRCm39)	L106F	probably damaging	Het
Fat3	A	G	9: 15,909,025 (GRCm39)	Y2326H	probably benign	Het
Fhl5	A	T	4: 25,207,101 (GRCm39)	C222*	probably null	Het
Gnmt	T	C	17: 47,036,854 (GRCm39)	T252A	probably benign	Het
Gpi-ps	A	G	8: 5,689,888 (GRCm39)		noncoding transcript	Het
Gsta5	C	T	9: 78,210,099 (GRCm39)	A135V	probably benign	Het
Gtf2f1	A	G	17: 57,311,307 (GRCm39)		probably null	Het
Gtf3a	T	C	5: 146,890,039 (GRCm39)	Y187H	probably damaging	Het
Hdac2	A	G	10: 36,850,788 (GRCm39)	Y14C	probably damaging	Het
Hnrnph1	T	G	11: 50,276,589 (GRCm39)		probably benign	Het
Homer2	T	C	7: 81,268,351 (GRCm39)	D92G	possibly damaging	Het
Hspg2	T	C	4: 137,277,335 (GRCm39)	S2885P	probably damaging	Het
Insr	A	G	8: 3,211,770 (GRCm39)	S1084P	probably damaging	Het
Ints11	T	A	4: 155,972,081 (GRCm39)	V362E	probably damaging	Het
Kank2	T	C	9: 21,691,195 (GRCm39)	N513S	probably damaging	Het
Kl	T	G	5: 150,876,753 (GRCm39)	V191G	probably damaging	Het
Krt23	A	G	11: 99,377,524 (GRCm39)		probably null	Het
Lama3	A	C	18: 12,583,481 (GRCm39)	T690P	possibly damaging	Het
Lamb1	G	A	12: 31,332,720 (GRCm39)	A281T	possibly damaging	Het
Lck	T	C	4: 129,449,433 (GRCm39)	E299G	probably damaging	Het
Lonrf1	A	G	8: 36,689,864 (GRCm39)	V703A	probably damaging	Het
Ly6f	T	C	15: 75,143,526 (GRCm39)	C78R	probably damaging	Het
Mapkap1	C	T	2: 34,423,793 (GRCm39)		probably benign	Het
Mast1	T	A	8: 85,639,718 (GRCm39)	I1204F	probably damaging	Het
Mbd6	C	T	10: 127,121,742 (GRCm39)		probably benign	Het
Mef2c	A	T	13: 83,741,020 (GRCm39)	T60S	probably damaging	Het
Mgat4c	C	T	10: 102,224,980 (GRCm39)	T398I	probably damaging	Het
Mmp12	C	A	9: 7,350,016 (GRCm39)	H102Q	probably damaging	Het
Mmp20	G	A	9: 7,645,374 (GRCm39)	G308E	probably damaging	Het
Mms19	A	T	19: 41,943,285 (GRCm39)	L395Q	probably damaging	Het
Mus81	A	G	19: 5,537,959 (GRCm39)		probably benign	Het
Mypn	C	T	10: 63,028,982 (GRCm39)	R27H	probably benign	Het
Nav3	T	C	10: 109,689,161 (GRCm39)	E372G	probably damaging	Het
Ncoa1	T	A	12: 4,389,105 (GRCm39)	I57F	probably damaging	Het
Ncstn	T	C	1: 171,910,159 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Notch2	C	T	3: 98,053,853 (GRCm39)	T2172I	possibly damaging	Het
Obscn	T	A	11: 59,024,772 (GRCm39)	K423*	probably null	Het
Or51l14	A	G	7: 103,100,835 (GRCm39)	N97S	probably benign	Het
Or5d37	A	C	2: 87,923,972 (GRCm39)	S103A	probably benign	Het
Or5k1	T	C	16: 58,617,684 (GRCm39)	N175S	probably benign	Het
Or9a2	A	T	6: 41,749,198 (GRCm39)	C12S	probably benign	Het
Ostm1	T	A	10: 42,572,343 (GRCm39)	M242K	probably damaging	Het
Oxnad1	T	A	14: 31,821,437 (GRCm39)	I154N	probably damaging	Het
Pcdhb10	T	A	18: 37,546,152 (GRCm39)	D409E	probably damaging	Het
Pdcd11	T	C	19: 47,113,476 (GRCm39)		probably benign	Het
Peak1	C	A	9: 56,165,916 (GRCm39)	V671L	probably benign	Het
Pex1	G	A	5: 3,656,444 (GRCm39)		probably null	Het
Plk4	T	A	3: 40,760,075 (GRCm39)	F324I	probably benign	Het
Poglut2	C	T	1: 44,149,917 (GRCm39)	W424*	probably null	Het
Ppfibp1	C	A	6: 146,920,529 (GRCm39)		probably null	Het
Prcp	T	A	7: 92,568,290 (GRCm39)	W276R	probably damaging	Het
Prr14l	T	C	5: 32,987,224 (GRCm39)	E757G	probably benign	Het
Prss52	T	A	14: 64,351,093 (GRCm39)	Y293N	probably damaging	Het
Prune2	A	G	19: 16,984,156 (GRCm39)		probably benign	Het
Ptprk	G	C	10: 28,461,943 (GRCm39)	A84P	probably damaging	Het
Ptprk	C	T	10: 28,461,944 (GRCm39)	A84V	probably damaging	Het
Rock1	A	G	18: 10,079,120 (GRCm39)	L1116P	possibly damaging	Het
Sdha	A	T	13: 74,475,452 (GRCm39)	F526Y	probably benign	Het
Sema4b	T	C	7: 79,869,954 (GRCm39)	F414S	probably damaging	Het
Serpina12	T	C	12: 104,001,960 (GRCm39)	D252G	probably damaging	Het
Siglecg	C	T	7: 43,060,550 (GRCm39)	A310V	probably benign	Het
Slc30a8	A	G	15: 52,188,966 (GRCm39)	I194V	probably benign	Het
Spred3	A	G	7: 28,862,400 (GRCm39)	S148P	probably damaging	Het
Taf9b	A	G	X: 105,262,014 (GRCm39)	S58P	probably damaging	Het
Tgm4	A	T	9: 122,891,484 (GRCm39)	Y109F	probably benign	Het
Tmprss11c	T	G	5: 86,385,468 (GRCm39)		probably benign	Het
Tmtc3	A	T	10: 100,307,266 (GRCm39)	V246D	probably damaging	Het
Tnip1	C	T	11: 54,828,820 (GRCm39)	G116R	probably damaging	Het
Tpr	A	G	1: 150,303,992 (GRCm39)	E1455G	possibly damaging	Het
Ttc3	T	A	16: 94,232,863 (GRCm39)	L986*	probably null	Het
Txndc15	A	G	13: 55,872,436 (GRCm39)	I275V	possibly damaging	Het
Ugt2b1	T	A	5: 87,074,315 (GRCm39)	I15L	probably benign	Het
Upf2	T	C	2: 5,962,445 (GRCm39)	V49A	possibly damaging	Het
Vmn1r117	G	A	7: 20,617,371 (GRCm39)	P226S	probably benign	Het
Vmn2r28	A	T	7: 5,493,456 (GRCm39)	H163Q	probably benign	Het
Vstm2a	T	A	11: 16,213,240 (GRCm39)	S208R	probably damaging	Het
Zfp346	T	A	13: 55,260,910 (GRCm39)	C79*	probably null	Het
Zfp628	A	T	7: 4,924,615 (GRCm39)	T946S	probably benign	Het

Other mutations in Akr1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02927:Akr1a1	APN	4	116,495,180 (GRCm39)	missense	probably damaging	1.00
IGL03176:Akr1a1	APN	4	116,496,272 (GRCm39)	missense	probably damaging	1.00
IGL03265:Akr1a1	APN	4	116,495,014 (GRCm39)	missense	probably benign	0.42
R0972:Akr1a1	UTSW	4	116,497,204 (GRCm39)	critical splice acceptor site	probably null
R1649:Akr1a1	UTSW	4	116,495,217 (GRCm39)	missense	probably damaging	1.00
R1711:Akr1a1	UTSW	4	116,495,171 (GRCm39)	critical splice donor site	probably null
R1727:Akr1a1	UTSW	4	116,498,248 (GRCm39)	missense	probably damaging	1.00
R1822:Akr1a1	UTSW	4	116,493,850 (GRCm39)	missense	probably benign	0.13
R4653:Akr1a1	UTSW	4	116,495,156 (GRCm39)	unclassified	probably benign
R5377:Akr1a1	UTSW	4	116,497,092 (GRCm39)	missense	probably damaging	1.00
R7386:Akr1a1	UTSW	4	116,498,251 (GRCm39)	missense	probably damaging	0.98
R7458:Akr1a1	UTSW	4	116,495,014 (GRCm39)	missense	possibly damaging	0.61
R8253:Akr1a1	UTSW	4	116,493,840 (GRCm39)	missense	probably damaging	0.98
R8888:Akr1a1	UTSW	4	116,498,260 (GRCm39)	missense	probably damaging	1.00
R8895:Akr1a1	UTSW	4	116,498,260 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAACCTCTGCTGCCTTAAAGCTCGC -3'
(R):5'- AATCCCTTTCCCAAGAATGCCGATG -3'

Sequencing Primer
(F):5'- TTTGAATACACACACAAGTCTTGCC -3'
(R):5'- CCGATGGAACTGTCAGATATGACTC -3'

Posted On

2013-05-23