Mutagenetix > Incidental Mutation

Incidental Mutation 'R8774-TAIL:Auh'

667991

Institutional Source

Beutler Lab

Gene Symbol

Auh

Ensembl Gene

ENSMUSG00000021460

Gene Name

AU RNA binding protein/enoyl-coenzyme A hydratase

Synonyms

W91705

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8774-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52989155-53083717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52993631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 261 (M261K)

Ref Sequence

ENSEMBL: ENSMUSP00000021913 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021913
AA Change: M261K

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021913
Gene: ENSMUSG00000021460
AA Change: M261K

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

SMART Domains

Protein: ENSMUSP00000121852
Gene: ENSMUSG00000021460
AA Change: M187K

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,090,358 (GRCm39)	S364P	possibly damaging	Het
Abcc2	T	A	19: 43,787,577 (GRCm39)	Y208N	probably damaging	Het
Acy1	A	T	9: 106,313,913 (GRCm39)	D82E	probably damaging	Het
Ankub1	A	G	3: 57,597,802 (GRCm39)	L56P	probably damaging	Het
Aoc1	T	A	6: 48,885,529 (GRCm39)	F678Y	probably damaging	Het
Asxl3	C	A	18: 22,657,101 (GRCm39)	Q1704K	probably damaging	Het
Atg9b	T	C	5: 24,595,571 (GRCm39)	D236G	probably damaging	Het
Blm	TCC	TCCGCC	7: 80,162,655 (GRCm39)		probably benign	Het
Blm	TCC	TCCGCC	7: 80,162,667 (GRCm39)		probably benign	Het
Blm	CTC	CTCATC	7: 80,162,666 (GRCm39)		probably benign	Het
C2cd6	A	T	1: 59,099,825 (GRCm39)	M372K	possibly damaging	Het
Ccdc88b	A	T	19: 6,825,090 (GRCm39)	N1287K	probably damaging	Het
Cebpz	A	G	17: 79,229,073 (GRCm39)	S958P	probably benign	Het
Cgn	T	A	3: 94,680,810 (GRCm39)	Q576L	probably damaging	Het
Chd7	T	A	4: 8,854,692 (GRCm39)	M2011K	probably damaging	Het
Cntnap4	A	G	8: 113,529,820 (GRCm39)	E676G	probably benign	Het
Cspp1	A	T	1: 10,183,139 (GRCm39)	E781D	possibly damaging	Het
Cyb5d2	A	C	11: 72,679,901 (GRCm39)		probably null	Het
Epn3	G	T	11: 94,383,220 (GRCm39)	P335T	possibly damaging	Het
Far2	T	A	6: 148,047,629 (GRCm39)	S103T	probably benign	Het
Fhip1a	G	C	3: 85,580,097 (GRCm39)	Q703E	probably benign	Het
Fhl2	A	G	1: 43,162,751 (GRCm39)	S255P	probably damaging	Het
Fmnl2	T	A	2: 52,932,321 (GRCm39)	V100D		Het
Gabbr1	T	C	17: 37,382,749 (GRCm39)	L814P	probably damaging	Het
Gzmg	C	T	14: 56,394,193 (GRCm39)	V234I	probably benign	Het
Ift172	A	G	5: 31,415,207 (GRCm39)	V1334A	probably benign	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Klrg1	T	C	6: 122,255,193 (GRCm39)	T80A	probably benign	Het
Lrp4	A	G	2: 91,308,043 (GRCm39)	N496S	probably benign	Het
Lsmem1	G	T	12: 40,227,145 (GRCm39)	N113K	probably damaging	Het
Map3k2	G	A	18: 32,345,117 (GRCm39)	S314N	probably damaging	Het
Mtpap	C	T	18: 4,387,032 (GRCm39)	R361*	probably null	Het
Muc5b	T	A	7: 141,418,831 (GRCm39)	S3926T	probably benign	Het
Nat10	C	A	2: 103,561,752 (GRCm39)	R643L	probably damaging	Het
Ncbp3	T	C	11: 72,938,808 (GRCm39)	V28A	probably benign	Het
Nlrp9a	T	C	7: 26,257,984 (GRCm39)	L534P	possibly damaging	Het
Nmi	T	C	2: 51,848,974 (GRCm39)	K39E	probably benign	Het
Nxpe4	A	G	9: 48,304,692 (GRCm39)	N260D	probably benign	Het
Or4k38	T	C	2: 111,166,318 (GRCm39)	Y35C	probably damaging	Het
Or51aa2	C	A	7: 103,187,965 (GRCm39)	V159L	probably benign	Het
Or6c213	T	A	10: 129,573,926 (GRCm39)	I287F	probably damaging	Het
Or8c19-ps1	G	A	9: 38,220,600 (GRCm39)	A170T	unknown	Het
Pirb	G	T	7: 3,720,728 (GRCm39)	L257M	probably damaging	Het
Plcg2	A	T	8: 118,306,585 (GRCm39)	D313V	possibly damaging	Het
Ppard	G	A	17: 28,517,864 (GRCm39)	V311I	possibly damaging	Het
Ptcd1	A	T	5: 145,092,175 (GRCm39)	M308K	probably damaging	Het
Pygo1	A	G	9: 72,852,436 (GRCm39)	N208D	possibly damaging	Het
Robo1	T	G	16: 72,832,719 (GRCm39)	D1497E	probably benign	Het
Sdk2	T	C	11: 113,730,169 (GRCm39)	D1022G	probably damaging	Het
Shc3	G	A	13: 51,615,475 (GRCm39)	H161Y	probably damaging	Het
Slc15a1	G	T	14: 121,724,423 (GRCm39)	Q150K	probably damaging	Het
Sod1	T	G	16: 90,023,039 (GRCm39)	V120G	probably damaging	Het
Spata31g1	T	C	4: 42,971,087 (GRCm39)	L140P	probably damaging	Het
Sprr2f	T	A	3: 92,273,323 (GRCm39)	C41S	unknown	Het
Svil	A	T	18: 5,049,068 (GRCm39)	Y115F	probably damaging	Het
Tdp1	T	C	12: 99,877,917 (GRCm39)	S400P	probably damaging	Het
Thbs4	A	T	13: 92,898,030 (GRCm39)	D596E	probably damaging	Het
Tshz1	T	A	18: 84,033,101 (GRCm39)	M436L	possibly damaging	Het
Ube3c	C	T	5: 29,812,029 (GRCm39)	T423I	probably benign	Het
Unc93a	A	T	17: 13,341,837 (GRCm39)	I98N	probably damaging	Het
Usp33	T	A	3: 152,085,213 (GRCm39)	Y624*	probably null	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Zfp867	A	G	11: 59,354,837 (GRCm39)	F164S	probably damaging	Het
Zswim1	C	T	2: 164,668,062 (GRCm39)	T438I	probably benign	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
R1884: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

Predicted Primers

Posted On

2021-03-08