Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Auh'

218505

Institutional Source

Beutler Lab

Gene Symbol

Auh

Ensembl Gene

ENSMUSG00000021460

Gene Name

AU RNA binding protein/enoyl-coenzyme A hydratase

Synonyms

W91705

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0046 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

52989155-53083717 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 53083421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116179 (fasta)

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

probably benign
Transcript: ENSMUST00000110031

SMART Domains

Protein: ENSMUSP00000105658
Gene: ENSMUSG00000021460

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: ENSMUST00000151469

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877 (GRCm39)	K135*	probably null	Het
Adamts16	A	G	13: 70,911,579 (GRCm39)	S871P	probably benign	Het
Adcy10	A	T	1: 165,367,403 (GRCm39)	I558F	probably damaging	Het
Adsl	T	G	15: 80,846,989 (GRCm39)		probably null	Het
Aldob	T	C	4: 49,543,842 (GRCm39)	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247 (GRCm39)	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,483 (GRCm39)	P19L	probably damaging	Het
Apoa5	T	C	9: 46,181,296 (GRCm39)	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,067,664 (GRCm39)	L533Q	probably benign	Het
Atp7b	T	C	8: 22,550,011 (GRCm39)	T9A	probably benign	Het
B3gnt3	T	C	8: 72,145,567 (GRCm39)	Y267C	probably damaging	Het
Card11	T	C	5: 140,894,279 (GRCm39)	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,898,301 (GRCm39)	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,942,434 (GRCm39)	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,666,295 (GRCm39)	D1108E	probably benign	Het
Col14a1	G	A	15: 55,272,359 (GRCm39)		probably benign	Het
Col6a6	C	T	9: 105,626,047 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,251,280 (GRCm39)	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,609,256 (GRCm39)		probably benign	Het
Cpt2	A	G	4: 107,761,559 (GRCm39)		probably null	Het
Crebrf	T	A	17: 26,982,308 (GRCm39)	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,666,236 (GRCm39)		noncoding transcript	Het
Dhx9	C	T	1: 153,348,453 (GRCm39)	V291M	probably benign	Het
Dmxl1	T	A	18: 50,011,149 (GRCm39)	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,496,033 (GRCm39)		probably null	Het
Dock4	G	A	12: 40,787,359 (GRCm39)		probably benign	Het
Dpp3	G	T	19: 4,964,671 (GRCm39)	N545K	probably damaging	Het
Elmo2	T	A	2: 165,140,646 (GRCm39)	N275I	probably damaging	Het
Farp1	A	G	14: 121,492,925 (GRCm39)	K509R	probably benign	Het
Fat3	T	C	9: 15,877,275 (GRCm39)	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,593,964 (GRCm39)		probably benign	Het
Flg	T	A	3: 93,185,028 (GRCm39)		probably benign	Het
Gas2l2	A	T	11: 83,312,736 (GRCm39)	W859R	probably damaging	Het
Gatm	T	C	2: 122,431,225 (GRCm39)	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998 (GRCm39)	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,699,604 (GRCm39)		probably benign	Het
Haus5	C	T	7: 30,353,605 (GRCm39)	V591I	probably benign	Het
Kcnab3	G	A	11: 69,221,053 (GRCm39)		probably null	Het
Khdrbs2	A	G	1: 32,658,283 (GRCm39)	D281G	possibly damaging	Het
Krt86	A	T	15: 101,375,283 (GRCm39)	M393L	probably benign	Het
Limk1	T	C	5: 134,701,615 (GRCm39)	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,466,192 (GRCm39)	Y100*	probably null	Het
Mamstr	T	G	7: 45,291,194 (GRCm39)		probably benign	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Marf1	G	A	16: 13,929,591 (GRCm39)	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,686,817 (GRCm39)	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,401,417 (GRCm39)	N881I	probably damaging	Het
Nox3	T	C	17: 3,733,236 (GRCm39)	Y225C	probably benign	Het
Nrp1	C	T	8: 129,227,089 (GRCm39)		probably benign	Het
Or11g26	T	A	14: 50,753,596 (GRCm39)	*312K	probably null	Het
Or4c109	C	T	2: 88,817,693 (GRCm39)	M284I	probably benign	Het
Or4c35	C	T	2: 89,808,851 (GRCm39)	T243I	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or8k33	A	G	2: 86,383,976 (GRCm39)	F164S	probably damaging	Het
Pcdhb13	A	T	18: 37,577,310 (GRCm39)	M563L	probably benign	Het
Pclo	C	T	5: 14,590,493 (GRCm39)	T931M	unknown	Het
Peli2	C	T	14: 48,358,659 (GRCm39)	P16S	possibly damaging	Het
Pfas	G	T	11: 68,881,293 (GRCm39)	R1025S	probably benign	Het
Pik3c2a	A	T	7: 115,953,307 (GRCm39)	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 110,262,617 (GRCm39)		probably benign	Het
Prg4	T	C	1: 150,331,837 (GRCm39)	T279A	possibly damaging	Het
Psma1	A	T	7: 113,866,440 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,643,149 (GRCm39)	L550P	probably damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,376,215 (GRCm39)	H195R	probably damaging	Het
Rnf17	T	C	14: 56,708,830 (GRCm39)	L750P	probably damaging	Het
Rtcb	T	C	10: 85,793,520 (GRCm39)	N18D	probably benign	Het
Seh1l	T	C	18: 67,925,086 (GRCm39)		probably null	Het
Sis	T	G	3: 72,839,427 (GRCm39)	N813T	probably benign	Het
Sptbn2	T	C	19: 4,795,405 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,281,285 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taok3	C	T	5: 117,410,294 (GRCm39)	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tsbp1	T	C	17: 34,679,095 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,781,886 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,091,940 (GRCm39)	E1756G	probably damaging	Het
Usp35	A	T	7: 96,962,804 (GRCm39)		probably null	Het
Vmn2r111	A	G	17: 22,766,990 (GRCm39)	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,451,146 (GRCm39)	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,714,589 (GRCm39)	C1067R	probably 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
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
R8774-TAIL:Auh	UTSW	13	52,993,631 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TCTTTAAGTGAAGTGCAACAGCCCC -3'
(R):5'- CTGTAAACATACAACATGGCGGCG -3'

Sequencing Primer
(F):5'- CTCTCCGAGATAATATGTGCAAAAG -3'
(R):5'- CGCCTTGAGAACGGTTGG -3'

Posted On

2014-08-12