Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00742:Auh'

9164

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Auh

Ensembl Gene

ENSMUSG00000021460

Gene Name

AU RNA binding protein/enoyl-coenzyme A hydratase

Synonyms

W91705

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00742

Quality Score

Status

Chromosome

Chromosomal Location

52835119-52929681 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52838102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 210 (E210G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021913] [ENSMUST00000123599]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021913
AA Change: E284G

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021913
Gene: ENSMUSG00000021460
AA Change: E284G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ECH_1	59	314	4.5e-62	PFAM
Pfam:ECH_2	64	248	1.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123599

SMART Domains

Protein: ENSMUSP00000116179
Gene: ENSMUSG00000021460

Domain	Start	End	E-Value	Type
Pfam:ECH_1	21	217	1.7e-48	PFAM
Pfam:ECH_2	25	211	9.8e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000137064
AA Change: E210G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121852
Gene: ENSMUSG00000021460
AA Change: E210G

Domain	Start	End	E-Value	Type
Pfam:ECH_2	1	179	1.9e-28	PFAM
Pfam:ECH_1	1	236	1.1e-51	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	G	T	15: 76,589,100	A50S	possibly damaging	Het
Adgrg2	C	T	X: 160,488,719	T778M	probably damaging	Het
Aimp1	G	A	3: 132,671,981	Q208*	probably null	Het
Cdh7	T	G	1: 110,065,626	N270K	probably benign	Het
Chrna9	A	G	5: 65,971,115	E218G	probably benign	Het
Cntn5	G	T	9: 9,976,297	T214K	probably damaging	Het
Col11a1	A	T	3: 114,124,315	D766V	unknown	Het
Ddb1	A	G	19: 10,610,760	N203S	probably benign	Het
Eefsec	A	T	6: 88,376,279	L136Q	possibly damaging	Het
Hdac6	T	C	X: 7,931,329	D1019G	probably benign	Het
Ift88	T	A	14: 57,481,386		probably benign	Het
Igf1r	T	A	7: 68,190,023	C693S	probably benign	Het
Il18r1	T	A	1: 40,480,991	S181T	probably benign	Het
Krt35	T	C	11: 100,093,959	Q291R	probably damaging	Het
Krt81	G	A	15: 101,460,278	R365C	probably benign	Het
Lpgat1	A	G	1: 191,760,209	E269G	probably benign	Het
Lpin3	A	G	2: 160,893,998	D66G	probably damaging	Het
Map9	T	C	3: 82,363,420	V97A	probably benign	Het
Mcm3ap	A	G	10: 76,492,935	E1129G	probably damaging	Het
Mmrn1	A	T	6: 60,958,120	H200L	probably damaging	Het
Mycbp2	A	G	14: 103,201,352	L2031S	probably damaging	Het
Nfatc1	C	T	18: 80,698,014	R243H	probably benign	Het
Olfr615	A	T	7: 103,561,356	Y293F	probably damaging	Het
Omg	T	A	11: 79,503,913		probably benign	Het
Postn	T	A	3: 54,372,894	N413K	possibly damaging	Het
Ppp1r3a	T	C	6: 14,718,609	T769A	probably benign	Het
Pvr	G	A	7: 19,914,859	P244S	probably damaging	Het
Rabl6	T	C	2: 25,588,687	E244G	probably damaging	Het
Satb2	A	T	1: 56,831,541	N428K	possibly damaging	Het
Svopl	A	G	6: 38,031,017		probably null	Het
Synpo2	G	T	3: 123,113,876	P597Q	probably damaging	Het
Tacc3	T	A	5: 33,661,234	H4Q	possibly damaging	Het
Ugt2b5	C	T	5: 87,127,814	G393S	probably damaging	Het
Vmn2r5	A	G	3: 64,491,413	I715T	possibly damaging	Het

Other mutations in Auh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02108:Auh	APN	13	52889097	splice site	probably benign
IGL02613:Auh	APN	13	52918999	critical splice donor site	probably null
PIT4131001:Auh	UTSW	13	52841010	missense	probably damaging	1.00
R0046:Auh	UTSW	13	52929385	splice site	probably benign
R0741:Auh	UTSW	13	52929602	missense	possibly damaging	0.53
R1480:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1515:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1581:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1609:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1611:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1723:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1724:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1725:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1742:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1883:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1884:Auh	UTSW	13	52835496	missense	probably benign	0.00
R1919:Auh	UTSW	13	52835496	missense	probably benign	0.00
R2022:Auh	UTSW	13	52835496	missense	probably benign	0.00
R2071:Auh	UTSW	13	52835496	missense	probably benign	0.00
R2114:Auh	UTSW	13	52835496	missense	probably benign	0.00
R2147:Auh	UTSW	13	52835496	missense	probably benign	0.00
R2149:Auh	UTSW	13	52835496	missense	probably benign	0.00
R2429:Auh	UTSW	13	52919016	missense	probably damaging	1.00
R2508:Auh	UTSW	13	52898719	nonsense	probably null
R2960:Auh	UTSW	13	52839574	missense	probably damaging	1.00
R3787:Auh	UTSW	13	52929457	missense	possibly damaging	0.95
R4594:Auh	UTSW	13	52912966	unclassified	probably benign
R4989:Auh	UTSW	13	52841029	missense	probably damaging	1.00
R5863:Auh	UTSW	13	52898658	missense	probably benign	0.06
R6041:Auh	UTSW	13	52919086	missense	possibly damaging	0.71
R6425:Auh	UTSW	13	52841044	missense	probably damaging	1.00
R6430:Auh	UTSW	13	52929410	missense	probably benign	0.41
R6434:Auh	UTSW	13	52929410	missense	probably benign	0.41
R6664:Auh	UTSW	13	52898667	missense	probably damaging	0.99
R6865:Auh	UTSW	13	52838129	missense	probably damaging	1.00
R7615:Auh	UTSW	13	52919013	missense	probably benign	0.00
R8379:Auh	UTSW	13	52909313	makesense	probably null
R8774:Auh	UTSW	13	52839595	missense	probably benign	0.21
R8774-TAIL:Auh	UTSW	13	52839595	missense	probably benign	0.21

Posted On

2012-12-06