Mutagenetix > Incidental Mutation

Incidental Mutation 'R2149:Auh'

234134

Institutional Source

Beutler Lab

Gene Symbol

Auh

Ensembl Gene

ENSMUSG00000021460

Gene Name

AU RNA binding protein/enoyl-coenzyme A hydratase

Synonyms

W91705

MMRRC Submission

040152-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2149 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52835119-52929681 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52835496 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 308 (P308L)

Ref Sequence

ENSEMBL: ENSMUSP00000021913 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021913
AA Change: P308L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021913
Gene: ENSMUSG00000021460
AA Change: P308L

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: 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

Meta Mutation Damage Score

0.0797

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	A	G	1: 43,742,336	D126G	probably damaging	Het
1700006A11Rik	T	C	3: 124,409,686	E414G	probably benign	Het
3632451O06Rik	T	C	14: 49,751,571	D647G	probably benign	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Abca13	A	G	11: 9,267,508	T317A	possibly damaging	Het
Acap3	T	G	4: 155,905,625	L750R	probably damaging	Het
Anapc7	T	A	5: 122,443,826	S511T	probably benign	Het
Anp32a	T	A	9: 62,371,802	F46Y	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arid2	T	C	15: 96,370,835	I943T	probably damaging	Het
BC003331	A	T	1: 150,388,559	N66K	probably benign	Het
Btnl6	T	C	17: 34,514,347	N218S	possibly damaging	Het
Capn11	T	C	17: 45,633,107		probably null	Het
Clcnkb	C	T	4: 141,408,017	G470D	probably damaging	Het
Clic6	T	A	16: 92,499,207	S252T	probably benign	Het
Col28a1	T	C	6: 8,155,383	K318E	possibly damaging	Het
Col5a3	A	T	9: 20,771,270	V1626D	unknown	Het
Col6a4	C	A	9: 106,076,929	A404S	probably benign	Het
Cyp2j5	G	T	4: 96,641,340	H265N	possibly damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dock2	A	G	11: 34,229,472		probably null	Het
Emilin2	T	C	17: 71,273,992	S580G	probably benign	Het
Fbn2	C	A	18: 58,102,325		probably null	Het
Gfm1	T	C	3: 67,474,560	L693P	probably damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gpha2	A	G	19: 6,226,982	T38A	probably damaging	Het
Gtf2h3	T	C	5: 124,599,785		probably benign	Het
Hmgxb3	T	C	18: 61,157,674	T376A	probably benign	Het
Hspa12b	A	G	2: 131,143,057	D416G	probably damaging	Het
Immt	C	T	6: 71,844,675	R28*	probably null	Het
Iqgap1	T	C	7: 80,762,560	Y180C	probably damaging	Het
Kcnq3	T	A	15: 66,023,729	D322V	probably damaging	Het
Kifc2	C	A	15: 76,662,221	L268I	probably benign	Het
Lama1	T	C	17: 67,773,865	M1296T	possibly damaging	Het
Lipk	A	G	19: 34,021,617	N104S	possibly damaging	Het
Lrrc14b	T	A	13: 74,363,757	N68I	possibly damaging	Het
Lrrc28	A	T	7: 67,531,682	D268E	probably damaging	Het
Ly6c2	T	C	15: 75,108,543	*132W	probably null	Het
Msh6	A	G	17: 87,986,088	E757G	probably damaging	Het
Mtss1l	T	C	8: 110,726,383	V47A	possibly damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Nalcn	A	T	14: 123,370,017	I680N	probably benign	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1501	A	C	19: 13,838,582	V197G	probably damaging	Het
Olfr61	C	T	7: 140,638,052	T117M	probably damaging	Het
Olfr713	A	T	7: 107,036,338	Y61F	possibly damaging	Het
Olfr912	T	C	9: 38,581,508	V77A	probably benign	Het
Oosp2	A	T	19: 11,649,614	L17*	probably null	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pde4dip	T	A	3: 97,792,836	Q300L	possibly damaging	Het
Phf2	T	C	13: 48,804,689	K950E	unknown	Het
Pira2	G	A	7: 3,844,171	P124L	probably damaging	Het
Plpp4	C	T	7: 129,379,371	T157I	probably benign	Het
Polrmt	G	A	10: 79,740,275	Q545*	probably null	Het
Ptprs	A	G	17: 56,417,706	F1511L	probably damaging	Het
Sbno1	T	C	5: 124,402,119		probably null	Het
Setd1a	T	A	7: 127,786,518	V256D	possibly damaging	Het
Slamf1	T	C	1: 171,767,272	S16P	probably damaging	Het
Slc16a14	T	C	1: 84,907,399	D473G	probably damaging	Het
Slc8a2	A	T	7: 16,159,164	H917L	probably damaging	Het
Sorbs2	A	C	8: 45,795,443	D442A	probably damaging	Het
Srp68	G	T	11: 116,260,867	T301K	possibly damaging	Het
Stab2	A	T	10: 86,865,040	C457*	probably null	Het
Stk31	T	G	6: 49,439,218	S652R	possibly damaging	Het
Stra6	T	G	9: 58,152,539	S594R	probably benign	Het
Tbc1d9	G	A	8: 83,271,449	E1212K	probably damaging	Het
Thada	C	T	17: 84,441,764	R593Q	probably damaging	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tmem132c	T	A	5: 127,462,962	W351R	probably damaging	Het
Tmem206	T	G	1: 191,345,109	F210V	probably benign	Het
Trim10	C	T	17: 36,877,014	A374V	probably benign	Het
Try10	T	C	6: 41,356,561	V80A	probably benign	Het
Ttn	T	C	2: 76,729,363	T29565A	possibly damaging	Het
Uggt2	G	T	14: 119,075,345	Q351K	probably benign	Het
Vmn1r120	A	T	7: 21,052,964	V274D	probably damaging	Het
Vmn1r62	A	T	7: 5,675,359	H13L	probably benign	Het
Vmn2r101	C	T	17: 19,588,963	T118I	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Wnt5a	A	G	14: 28,513,317	Y86C	probably damaging	Het
Xpa	T	C	4: 46,183,189	E200G	probably damaging	Het
Zc3h12a	C	T	4: 125,126,642	R136K	possibly damaging	Het
Zc3hav1	T	C	6: 38,336,537	H191R	probably damaging	Het
Zfp804a	A	G	2: 82,258,664	T946A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGACCACGGACATTGCTAGC -3'
(R):5'- TTGGCCCCATTGTTAGGAG -3'

Sequencing Primer
(F):5'- CTGAATAAATATGACATGGCGCAC -3'
(R):5'- AGACTTGTTCAAAGGACTCTCGGC -3'

Posted On

2014-10-01