Mutagenetix > Incidental Mutation

Incidental Mutation 'R1884:Auh'

209382

Institutional Source

Beutler Lab

Gene Symbol

Auh

Ensembl Gene

ENSMUSG00000021460

Gene Name

AU RNA binding protein/enoyl-coenzyme A hydratase

Synonyms

W91705

MMRRC Submission

039905-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1884 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52989155-53083717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52989532 bp (GRCm39)

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: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

99% (94/95)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 103,991,684 (GRCm39)	M573T	probably benign	Het
Ank3	A	G	10: 69,851,422 (GRCm39)	T1162A	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arpp21	T	A	9: 111,972,595 (GRCm39)	D232V	probably damaging	Het
Atg2a	T	C	19: 6,304,414 (GRCm39)	Y1144H	probably damaging	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Cenpf	C	T	1: 189,379,046 (GRCm39)	V2915I	probably benign	Het
Cep170	G	T	1: 176,602,245 (GRCm39)	T287K	probably benign	Het
Chst2	G	A	9: 95,287,611 (GRCm39)	T245I	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Coro7	G	T	16: 4,446,683 (GRCm39)		probably benign	Het
Cpne8	C	A	15: 90,532,831 (GRCm39)		probably benign	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx31	T	A	2: 28,749,002 (GRCm39)	I266N	probably damaging	Het
Dnah7a	A	T	1: 53,580,159 (GRCm39)	I1592N	probably damaging	Het
Dok6	A	T	18: 89,492,130 (GRCm39)	L149Q	probably damaging	Het
Eri2	G	A	7: 119,390,346 (GRCm39)	T94I	probably benign	Het
Ermp1	A	G	19: 29,594,079 (GRCm39)	V697A	probably benign	Het
Foxc1	C	T	13: 31,991,648 (GRCm39)	T153M	probably damaging	Het
Fry	A	G	5: 150,326,985 (GRCm39)	I1224V	probably benign	Het
Fzd5	G	A	1: 64,774,813 (GRCm39)	T316M	probably damaging	Het
Gcm1	G	T	9: 77,966,861 (GRCm39)	V27L	probably benign	Het
Gm5773	A	T	3: 93,681,348 (GRCm39)	D340V	probably benign	Het
Gucy2d	T	A	7: 98,100,815 (GRCm39)	H379Q	probably benign	Het
Hectd1	T	A	12: 51,847,738 (GRCm39)	M392L	probably benign	Het
Itpr2	A	C	6: 146,287,469 (GRCm39)	D452E	probably benign	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lrit1	T	C	14: 36,783,710 (GRCm39)	V346A	possibly damaging	Het
Lrrk1	A	G	7: 65,912,185 (GRCm39)	S1792P	probably benign	Het
Marveld2	A	T	13: 100,737,129 (GRCm39)	V168E	probably benign	Het
Ms4a4b	T	A	19: 11,438,629 (GRCm39)	D149E	probably damaging	Het
Myom2	G	A	8: 15,164,278 (GRCm39)	D1058N	probably benign	Het
Ncam2	C	T	16: 81,234,571 (GRCm39)	P142L	probably damaging	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nol10	T	C	12: 17,418,390 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,591,538 (GRCm39)	V194A	probably damaging	Het
Nudt6	A	G	3: 37,466,549 (GRCm39)	V82A	probably benign	Het
Odf2l	A	T	3: 144,856,809 (GRCm39)	N492I	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Pkn3	T	C	2: 29,972,840 (GRCm39)	V276A	probably damaging	Het
Prl3b1	T	G	13: 27,431,886 (GRCm39)	L137R	possibly damaging	Het
Rab11fip2	A	G	19: 59,925,762 (GRCm39)	F10L	probably damaging	Het
Rab3b	T	A	4: 108,786,649 (GRCm39)	V133E	probably damaging	Het
Rnf111	A	T	9: 70,383,520 (GRCm39)	S138T	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Runx1t1	A	G	4: 13,835,767 (GRCm39)	T75A	probably benign	Het
Ryr2	T	G	13: 11,753,242 (GRCm39)	K1693T	probably damaging	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Setd2	T	G	9: 110,385,486 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,141,646 (GRCm39)	Y1109C	probably damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc22a2	A	G	17: 12,833,713 (GRCm39)		probably benign	Het
Slc35f4	A	T	14: 49,551,091 (GRCm39)	W108R	probably damaging	Het
Slc4a1ap	A	G	5: 31,691,524 (GRCm39)	E440G	probably damaging	Het
Slc6a4	A	G	11: 76,904,201 (GRCm39)	T219A	probably benign	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Svil	T	G	18: 5,094,640 (GRCm39)	V1440G	possibly damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tbck	T	C	3: 132,430,677 (GRCm39)		probably null	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Top1mt	C	T	15: 75,539,750 (GRCm39)	R287H	possibly damaging	Het
Trdn	A	G	10: 33,133,091 (GRCm39)	K314E	probably benign	Het
Troap	T	A	15: 98,975,779 (GRCm39)	C233S	probably benign	Het
Usp28	T	C	9: 48,947,247 (GRCm39)	M571T	probably damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vipr1	C	T	9: 121,494,930 (GRCm39)	P327L	possibly damaging	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn1r69	G	A	7: 10,314,678 (GRCm39)	R18W	probably benign	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps13b	A	T	15: 35,430,437 (GRCm39)		probably benign	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp385c	A	C	11: 100,521,532 (GRCm39)	V176G	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	possibly damaging	Het

Other mutations in Auh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Auh	APN	13	52,992,138 (GRCm39)	missense	probably damaging	1.00
IGL02108:Auh	APN	13	53,043,133 (GRCm39)	splice site	probably benign
IGL02613:Auh	APN	13	53,073,035 (GRCm39)	critical splice donor site	probably null
PIT4131001:Auh	UTSW	13	52,995,046 (GRCm39)	missense	probably damaging	1.00
R0046:Auh	UTSW	13	53,083,421 (GRCm39)	splice site	probably benign
R0741:Auh	UTSW	13	53,083,638 (GRCm39)	missense	possibly damaging	0.53
R1480:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R1515:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R1581:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R1609:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R1611:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R1723:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R1724:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R1725:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R1742:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R1883:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R1919:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R2022:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R2071:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R2114:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R2147:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R2149:Auh	UTSW	13	52,989,532 (GRCm39)	missense	probably benign	0.00
R2429:Auh	UTSW	13	53,073,052 (GRCm39)	missense	probably damaging	1.00
R2508:Auh	UTSW	13	53,052,755 (GRCm39)	nonsense	probably null
R2960:Auh	UTSW	13	52,993,610 (GRCm39)	missense	probably damaging	1.00
R3787:Auh	UTSW	13	53,083,493 (GRCm39)	missense	possibly damaging	0.95
R4594:Auh	UTSW	13	53,067,002 (GRCm39)	unclassified	probably benign
R4989:Auh	UTSW	13	52,995,065 (GRCm39)	missense	probably damaging	1.00
R5863:Auh	UTSW	13	53,052,694 (GRCm39)	missense	probably benign	0.06
R6041:Auh	UTSW	13	53,073,122 (GRCm39)	missense	possibly damaging	0.71
R6425:Auh	UTSW	13	52,995,080 (GRCm39)	missense	probably damaging	1.00
R6430:Auh	UTSW	13	53,083,446 (GRCm39)	missense	probably benign	0.41
R6434:Auh	UTSW	13	53,083,446 (GRCm39)	missense	probably benign	0.41
R6664:Auh	UTSW	13	53,052,703 (GRCm39)	missense	probably damaging	0.99
R6865:Auh	UTSW	13	52,992,165 (GRCm39)	missense	probably damaging	1.00
R7615:Auh	UTSW	13	53,073,049 (GRCm39)	missense	probably benign	0.00
R8379:Auh	UTSW	13	53,063,349 (GRCm39)	makesense	probably null
R8774:Auh	UTSW	13	52,993,631 (GRCm39)	missense	probably benign	0.21
R8774-TAIL:Auh	UTSW	13	52,993,631 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TTGACCACGGACATTGCTAGC -3'
(R):5'- GGCCCCATTGTTAGGAGACTTG -3'

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

Posted On

2014-06-30