Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Auh'

344281

Institutional Source

Beutler Lab

Gene Symbol

Auh

Ensembl Gene

ENSMUSG00000021460

Gene Name

AU RNA binding protein/enoyl-coenzyme A hydratase

Synonyms

W91705

MMRRC Submission

041810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52835119-52929681 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 52912966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021913] [ENSMUST00000110031] [ENSMUST00000119311] [ENSMUST00000120535] [ENSMUST00000123599]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021913

SMART Domains

Protein: ENSMUSP00000021913
Gene: ENSMUSG00000021460

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

unknown
Transcript: ENSMUST00000110031
AA Change: T147A

SMART Domains

Protein: ENSMUSP00000105658
Gene: ENSMUSG00000021460
AA Change: T147A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ECH	57	120	5.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119311

SMART Domains

Protein: ENSMUSP00000113659
Gene: ENSMUSG00000021460

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ECH_1	59	115	2.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120535

SMART Domains

Protein: ENSMUSP00000112427
Gene: ENSMUSG00000021460

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ECH_1	59	142	1.3e-15	PFAM
Pfam:ECH_2	64	139	3.5e-12	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

noncoding transcript
Transcript: ENSMUST00000128380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133906

Predicted Effect

probably benign
Transcript: ENSMUST00000137064

SMART Domains

Protein: ENSMUSP00000121852
Gene: ENSMUSG00000021460

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142515

Predicted Effect

probably benign
Transcript: ENSMUST00000230563

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	Het

Other mutations in Auh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Auh	APN	13	52838102	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCTCTAATCCATTCAGAGAC -3'
(R):5'- AGGTCCCTGTCTCTGTTTGAAAC -3'

Sequencing Primer
(F):5'- CTAATCCATTCAGAGACCTATGGAG -3'
(R):5'- GTTTGAAACAGTGCTCTGCTC -3'

Posted On

2015-09-25