Mutagenetix > Incidental Mutation

Incidental Mutation 'R6041:Auh'

483569

Institutional Source

Beutler Lab

Gene Symbol

Auh

Ensembl Gene

ENSMUSG00000021460

Gene Name

AU RNA binding protein/enoyl-coenzyme A hydratase

Synonyms

W91705

MMRRC Submission

044209-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52835119-52929681 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52919086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 86 (L86F)

Ref Sequence

ENSEMBL: ENSMUSP00000112427 (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
AA Change: L86F

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000021913
Gene: ENSMUSG00000021460
AA Change: L86F

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

possibly damaging
Transcript: ENSMUST00000110031
AA Change: L86F

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105658
Gene: ENSMUSG00000021460
AA Change: L86F

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
AA Change: L86F

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113659
Gene: ENSMUSG00000021460
AA Change: L86F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ECH_1	59	115	2.9e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120535
AA Change: L86F

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112427
Gene: ENSMUSG00000021460
AA Change: L86F

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
AA Change: L47F

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000116179
Gene: ENSMUSG00000021460
AA Change: L47F

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: ENSMUST00000128544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133906

Predicted Effect

unknown
Transcript: ENSMUST00000137064
AA Change: L12F

SMART Domains

Protein: ENSMUSP00000121852
Gene: ENSMUSG00000021460
AA Change: L12F

Domain	Start	End	E-Value	Type
Pfam:ECH_2	1	179	1.9e-28	PFAM
Pfam:ECH_1	1	236	1.1e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153329

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,376,380	M297K	probably damaging	Het
Ace	A	C	11: 105,975,308	H34P	probably benign	Het
Agbl2	A	T	2: 90,808,027	N652I	probably benign	Het
Bmp10	A	G	6: 87,434,320	K365R	probably damaging	Het
Cacna1d	A	T	14: 30,042,357	S2086T	probably damaging	Het
Calcoco1	C	A	15: 102,717,939	R105L	possibly damaging	Het
Casc3	T	G	11: 98,828,559	V509G	probably damaging	Het
Clmn	A	G	12: 104,781,872	V472A	probably benign	Het
Cyp2b19	A	T	7: 26,759,427	S142C	probably damaging	Het
Derl3	T	C	10: 75,893,501	L26P	probably damaging	Het
Dgkh	C	T	14: 78,587,627	A863T	probably damaging	Het
Dhx30	C	T	9: 110,084,598	R1127Q	probably benign	Het
Dmxl2	A	G	9: 54,416,753	S1116P	probably damaging	Het
Dnah7b	T	C	1: 46,289,645	V3179A	probably benign	Het
Dnajb11	A	T	16: 22,868,721	N156I	probably benign	Het
Dpep1	A	T	8: 123,200,655	E316V	probably damaging	Het
F2rl2	T	A	13: 95,701,109	F221I	probably benign	Het
Fam189a2	A	T	19: 23,984,829	M270K	probably benign	Het
Flg2	T	A	3: 93,220,361	D173E	probably benign	Het
Fshr	A	T	17: 88,985,986	D421E	probably damaging	Het
Gfm2	T	A	13: 97,172,623	V612E	probably benign	Het
Gm17655	T	G	5: 110,047,573	K114N	possibly damaging	Het
Gm45844	C	A	7: 7,278,184		probably benign	Het
Gm5724	A	C	6: 141,739,038	D230E	probably benign	Het
Gpr142	A	T	11: 114,806,377	I250F	probably damaging	Het
Hexa	A	G	9: 59,563,236	Q447R	probably damaging	Het
Leng8	T	C	7: 4,145,569	L780P	probably benign	Het
Lrrk1	T	C	7: 66,262,133	D1893G	probably benign	Het
Macf1	T	A	4: 123,513,848	I139F	probably damaging	Het
Megf10	A	T	18: 57,180,549	T22S	probably benign	Het
Mup-ps1	C	A	4: 60,088,549		noncoding transcript	Het
Myh13	A	T	11: 67,364,730	E1642V	probably damaging	Het
Myof	A	G	19: 37,924,620	Y1462H	probably damaging	Het
Nipbl	T	A	15: 8,324,264	D1765V	probably damaging	Het
Npy5r	A	T	8: 66,682,023	N39K	possibly damaging	Het
Olfr1026	G	A	2: 85,923,391	G41D	probably damaging	Het
Pax6	A	G	2: 105,683,902	I29V	probably damaging	Het
Pi4ka	A	G	16: 17,360,572	Y307H	probably benign	Het
Pmf1	A	C	3: 88,396,051	Y68D	probably damaging	Het
Psen2	C	A	1: 180,245,727	E10*	probably null	Het
Ptprs	T	A	17: 56,419,080	M991L	probably benign	Het
R3hdm4	A	G	10: 79,913,661	V20A	possibly damaging	Het
Rad17	T	C	13: 100,617,766	N649D	probably benign	Het
Rad9b	A	T	5: 122,351,352	C38S	probably damaging	Het
Rapgef2	T	C	3: 79,069,162	M1296V	probably benign	Het
Rbp3	T	C	14: 33,956,482	S796P	probably damaging	Het
Rpl10-ps3	A	G	9: 50,344,782	S54P	probably benign	Het
Sclt1	T	A	3: 41,627,177	I688F	probably damaging	Het
Scn10a	A	G	9: 119,609,469	I1778T	probably damaging	Het
Scrib	C	T	15: 76,067,172	R159Q	possibly damaging	Het
Senp1	C	T	15: 98,058,216	E441K	probably damaging	Het
Sipa1l1	T	A	12: 82,342,250	F417I	probably damaging	Het
Smcr8	A	G	11: 60,779,568	D514G	probably damaging	Het
Tbc1d23	T	G	16: 57,173,150	D551A	probably benign	Het
Tet1	G	T	10: 62,813,373	T149N	probably damaging	Het
Them4	A	T	3: 94,317,499	D61V	possibly damaging	Het
Trak1	A	T	9: 121,460,412	I597F	probably damaging	Het
Trank1	A	G	9: 111,377,796	I1666V	possibly damaging	Het
Vipr2	A	C	12: 116,142,984	N378T	probably damaging	Het
Zfp804b	T	C	5: 6,771,231	R575G	probably benign	Het
Zfp941	A	T	7: 140,812,245	C400*	probably null	Het
Zswim5	A	C	4: 116,962,621	S408R	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
R2149: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
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'- AGCGATACAGTCATCCCTGC -3'
(R):5'- GCTCGGGATTAACAGAGCTTATG -3'

Sequencing Primer
(F):5'- GATACAGTCATCCCTGCTCACC -3'
(R):5'- AGCTTATGGGAAAAATGCACTC -3'

Posted On

2017-07-14