Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Auh'

212876

Institutional Source

Beutler Lab

Gene Symbol

Auh

Ensembl Gene

ENSMUSG00000021460

Gene Name

AU RNA binding protein/enoyl-coenzyme A hydratase

Synonyms

W91705

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not 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: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,031 (GRCm39)	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 35,817,414 (GRCm39)	V105F	possibly damaging	Het
Actr10	A	G	12: 70,989,104 (GRCm39)	I74M	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Afm	A	T	5: 90,672,779 (GRCm39)	K205*	probably null	Het
Ankrd27	T	A	7: 35,332,410 (GRCm39)	S846T	probably benign	Het
Ano3	A	G	2: 110,715,352 (GRCm39)	S29P	probably benign	Het
Apaf1	C	T	10: 90,913,476 (GRCm39)	W138*	probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgef4	A	G	1: 34,850,221 (GRCm39)	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,337,541 (GRCm39)	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,092,340 (GRCm39)	T70I	probably damaging	Het
Bltp1	A	G	3: 37,061,132 (GRCm39)		probably null	Het
Bspry	T	A	4: 62,413,034 (GRCm39)	C256S	probably damaging	Het
C3	C	A	17: 57,527,135 (GRCm39)	W771C	probably damaging	Het
Camkv	A	G	9: 107,824,287 (GRCm39)	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,942,548 (GRCm39)	V109E	probably damaging	Het
Cd101	A	G	3: 100,926,233 (GRCm39)	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,283,603 (GRCm39)	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,516,457 (GRCm39)	Q380E	probably benign	Het
Col6a3	T	C	1: 90,750,081 (GRCm39)	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 104,918,594 (GRCm39)	V82A	possibly damaging	Het
Cux1	G	A	5: 136,392,173 (GRCm39)	Q194*	probably null	Het
Daam2	T	C	17: 49,792,485 (GRCm39)	E361G	probably benign	Het
Dcaf17	A	T	2: 70,908,516 (GRCm39)		probably null	Het
Dnai1	T	C	4: 41,570,020 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993 (GRCm39)	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969 (GRCm39)	M988T	possibly damaging	Het
Fancm	T	C	12: 65,152,294 (GRCm39)	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Gm3604	G	T	13: 62,517,756 (GRCm39)	H201N	probably benign	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpatch8	A	G	11: 102,398,968 (GRCm39)		probably null	Het
H2-M3	T	C	17: 37,582,080 (GRCm39)	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,781,385 (GRCm39)	S62R	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hrg	A	T	16: 22,773,207 (GRCm39)	Q113H	probably damaging	Het
Kcnj16	T	C	11: 110,915,779 (GRCm39)	V147A	possibly damaging	Het
Kif1a	T	C	1: 92,946,753 (GRCm39)	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,731,642 (GRCm39)		probably benign	Het
Krt90	A	T	15: 101,465,665 (GRCm39)	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,476,671 (GRCm39)	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,618,741 (GRCm39)	T225K	probably benign	Het
Map1a	C	T	2: 121,137,493 (GRCm39)	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,119,600 (GRCm39)	D193G	probably benign	Het
Mpped2	T	A	2: 106,697,377 (GRCm39)	I284N	probably damaging	Het
Msh6	A	G	17: 88,292,553 (GRCm39)	H436R	probably benign	Het
Mterf3	A	T	13: 67,078,126 (GRCm39)	S48T	probably damaging	Het
Muc5b	T	C	7: 141,399,768 (GRCm39)	F414L	unknown	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Nherf4	T	C	9: 44,161,600 (GRCm39)	D93G	possibly damaging	Het
Nploc4	A	G	11: 120,295,055 (GRCm39)	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578 (GRCm39)	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,404,452 (GRCm39)	T397A	probably benign	Het
Ntsr2	A	T	12: 16,704,111 (GRCm39)	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,963,523 (GRCm39)	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,843,618 (GRCm39)	V105A	possibly damaging	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Parp3	T	A	9: 106,352,316 (GRCm39)	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,861,474 (GRCm39)	S936P	probably damaging	Het
Phkb	A	G	8: 86,648,790 (GRCm39)	E202G	probably benign	Het
Pink1	T	C	4: 138,041,331 (GRCm39)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm39)	D338G	probably damaging	Het
Prss8	G	T	7: 127,529,030 (GRCm39)	L9I	probably benign	Het
Ptpn22	G	A	3: 103,784,054 (GRCm39)		probably null	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Rasef	A	G	4: 73,662,351 (GRCm39)	S200P	possibly damaging	Het
Rb1	T	A	14: 73,450,430 (GRCm39)	K645*	probably null	Het
Robo2	C	T	16: 73,696,042 (GRCm39)	G1367D	probably benign	Het
Rp1	A	G	1: 4,422,894 (GRCm39)	V52A	probably damaging	Het
Samd13	T	C	3: 146,368,467 (GRCm39)	T23A	probably benign	Het
Scn7a	T	C	2: 66,530,317 (GRCm39)	H676R	probably damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Slc2a8	T	C	2: 32,870,091 (GRCm39)	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,937,196 (GRCm39)	R88L	probably damaging	Het
Slc8a2	A	G	7: 15,886,845 (GRCm39)	I657V	probably benign	Het
Slit2	C	A	5: 48,348,358 (GRCm39)		probably benign	Het
Spire2	A	G	8: 124,089,810 (GRCm39)	D447G	probably benign	Het
Sptlc3	A	G	2: 139,408,595 (GRCm39)	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,363 (GRCm39)	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,465,353 (GRCm39)	T334I	probably damaging	Het
Syt5	G	T	7: 4,543,278 (GRCm39)	T327N	probably damaging	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Tnks	A	T	8: 35,342,386 (GRCm39)	V388D	probably damaging	Het
Ugt2b1	T	C	5: 87,073,859 (GRCm39)	T167A	probably benign	Het
Usp40	G	A	1: 87,923,564 (GRCm39)	R236C	possibly damaging	Het
Utrn	T	C	10: 12,331,224 (GRCm39)	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,689,969 (GRCm39)	S282P	possibly damaging	Het
Vps45	T	C	3: 95,953,752 (GRCm39)	E200G	probably benign	Het
Wnt7b	T	A	15: 85,443,281 (GRCm39)	I41F	probably damaging	Het
Zmym6	T	A	4: 126,997,207 (GRCm39)	N275K	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
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
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'- TGGCCCCATTGTTAGGAGAC -3'

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

Posted On

2014-07-14