Mutagenetix > Incidental Mutation

Incidental Mutation 'R7615:Auh'

588873

Institutional Source

Beutler Lab

Gene Symbol

Auh

Ensembl Gene

ENSMUSG00000021460

Gene Name

AU RNA binding protein/enoyl-coenzyme A hydratase

Synonyms

W91705

MMRRC Submission

045683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52835119-52929681 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52919013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 111 (I111V)

Ref Sequence

ENSEMBL: ENSMUSP00000021913 (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: I111V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000021913
Gene: ENSMUSG00000021460
AA Change: I111V

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
AA Change: I111V

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105658
Gene: ENSMUSG00000021460
AA Change: I111V

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: I111V

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113659
Gene: ENSMUSG00000021460
AA Change: I111V

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: I111V

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112427
Gene: ENSMUSG00000021460
AA Change: I111V

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: I72V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116179
Gene: ENSMUSG00000021460
AA Change: I72V

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: I37V

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

0.0822

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (101/101)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,497,849 (GRCm38)	I320V	possibly damaging	Het
Adat2	A	G	10: 13,553,276 (GRCm38)	K4R	probably benign	Het
Adgb	G	A	10: 10,436,010 (GRCm38)	L226F	probably damaging	Het
Adgrb3	C	T	1: 25,098,897 (GRCm38)	V1192I	probably damaging	Het
Ahsa2	T	A	11: 23,496,750 (GRCm38)	N71I	possibly damaging	Het
Amigo2	T	G	15: 97,245,342 (GRCm38)	T400P	probably damaging	Het
Ankhd1	A	T	18: 36,656,773 (GRCm38)	Q466L		Het
Brwd1	A	G	16: 96,033,839 (GRCm38)	F942L	probably damaging	Het
C1qtnf7	A	G	5: 43,616,144 (GRCm38)	N262D	probably damaging	Het
Cdh9	T	A	15: 16,856,230 (GRCm38)	S785R	probably damaging	Het
Celsr3	A	G	9: 108,837,652 (GRCm38)	T2046A	possibly damaging	Het
Cep170b	T	C	12: 112,744,665 (GRCm38)	V1493A	probably damaging	Het
Cep290	C	T	10: 100,492,681 (GRCm38)	R111W	probably benign	Het
Chd2	T	A	7: 73,441,642 (GRCm38)	H1617L	probably damaging	Het
Clnk	T	C	5: 38,706,698 (GRCm38)	D404G	probably damaging	Het
Col18a1	C	T	10: 77,067,005 (GRCm38)	G795D	probably damaging	Het
Csf3r	T	A	4: 126,037,656 (GRCm38)	Y477*	probably null	Het
Ddx58	T	A	4: 40,229,653 (GRCm38)	I89F	possibly damaging	Het
Dnah17	T	A	11: 118,110,547 (GRCm38)	K857*	probably null	Het
Dnah2	T	G	11: 69,435,304 (GRCm38)	I3674L	probably damaging	Het
Dnah6	A	C	6: 73,095,206 (GRCm38)	I2431S	possibly damaging	Het
Eml6	T	A	11: 29,802,501 (GRCm38)	I971F	possibly damaging	Het
Fam135b	A	T	15: 71,463,323 (GRCm38)	I674N	probably damaging	Het
Fancc	T	A	13: 63,317,558 (GRCm38)		probably null	Het
Gabrb2	A	C	11: 42,626,742 (GRCm38)	K464Q	probably benign	Het
Gbp4	T	A	5: 105,122,982 (GRCm38)	D261V	possibly damaging	Het
Gdf3	A	G	6: 122,606,916 (GRCm38)	V164A	probably benign	Het
Gm19410	A	G	8: 35,796,359 (GRCm38)	D978G	probably damaging	Het
Gm20730	C	T	6: 43,081,774 (GRCm38)	G35R	probably null	Het
Gm9733	A	G	3: 15,320,485 (GRCm38)	V119A	probably damaging	Het
Grin2b	G	A	6: 135,923,364 (GRCm38)	T173I	probably damaging	Het
Gtf3c3	A	T	1: 54,423,572 (GRCm38)	V344E	possibly damaging	Het
Hsd3b5	A	G	3: 98,630,104 (GRCm38)	I32T	probably damaging	Het
Ido1	G	C	8: 24,593,188 (GRCm38)	L74V	probably damaging	Het
Igkv1-88	T	A	6: 68,862,373 (GRCm38)	D85V	probably damaging	Het
Il22ra1	A	G	4: 135,737,459 (GRCm38)	I159V	probably benign	Het
Iqgap1	A	G	7: 80,751,346 (GRCm38)	V531A	probably benign	Het
Iqgap1	A	T	7: 80,730,100 (GRCm38)	F1175Y	probably damaging	Het
Itga1	T	A	13: 114,996,922 (GRCm38)	Q484L	probably null	Het
Itga11	A	T	9: 62,744,018 (GRCm38)	E281V	probably benign	Het
Kpna3	T	C	14: 61,372,962 (GRCm38)	N343S	possibly damaging	Het
Larp1b	A	G	3: 41,035,816 (GRCm38)	N133S	probably benign	Het
Larp1b	A	G	3: 41,033,534 (GRCm38)	K64E	possibly damaging	Het
Lctl	T	A	9: 64,122,110 (GRCm38)	L161H	probably damaging	Het
Mlip	A	G	9: 77,230,483 (GRCm38)	S381P	probably damaging	Het
Mroh9	A	G	1: 163,046,032 (GRCm38)	I518T	probably benign	Het
Mst1r	A	G	9: 107,920,012 (GRCm38)	Q1360R	probably benign	Het
Muc5b	T	A	7: 141,864,892 (GRCm38)	C3858*	probably null	Het
Naip1	A	T	13: 100,425,776 (GRCm38)	H960Q	probably benign	Het
Narfl	C	T	17: 25,782,129 (GRCm38)	P452S	probably benign	Het
Neo1	A	T	9: 58,884,503 (GRCm38)	S1321T	probably benign	Het
Nid2	C	A	14: 19,802,530 (GRCm38)	T1102K	probably damaging	Het
Nsmaf	C	T	4: 6,408,563 (GRCm38)	V739M	probably damaging	Het
Olfr1019	T	A	2: 85,841,657 (GRCm38)	M45L	probably benign	Het
Olfr1167	T	C	2: 88,149,518 (GRCm38)	Q167R	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,590 (GRCm38)	I156T	probably damaging	Het
Olfr727	T	G	14: 50,126,989 (GRCm38)	S137R	probably benign	Het
Olfr97	T	G	17: 37,231,450 (GRCm38)	K307Q	probably benign	Het
Osbpl9	G	A	4: 109,086,339 (GRCm38)	P159S	probably damaging	Het
Parpbp	A	G	10: 88,093,637 (GRCm38)	S450P	probably damaging	Het
Pdgfrb	A	G	18: 61,064,046 (GRCm38)	T185A	probably benign	Het
Pkd1	T	C	17: 24,593,502 (GRCm38)	V3803A	probably damaging	Het
Plau	A	T	14: 20,839,466 (GRCm38)	K200*	probably null	Het
Plce1	A	T	19: 38,524,665 (GRCm38)	Q136L	probably benign	Het
Plekhd1	C	T	12: 80,722,445 (GRCm38)	T493I	probably benign	Het
Pofut1	T	C	2: 153,259,418 (GRCm38)	S31P	unknown	Het
Prlr	T	A	15: 10,325,924 (GRCm38)	I243N	probably damaging	Het
Ptgis	A	G	2: 167,223,988 (GRCm38)	L174P	probably damaging	Het
Ralgapb	T	A	2: 158,450,270 (GRCm38)	I792K	probably damaging	Het
Retreg3	C	T	11: 101,102,980 (GRCm38)	S136N	probably damaging	Het
Rnf213	C	T	11: 119,467,297 (GRCm38)	T4291M		Het
Rtn1	A	G	12: 72,304,143 (GRCm38)	Y431H	probably damaging	Het
Rwdd3	A	G	3: 121,171,604 (GRCm38)		probably benign	Het
Scyl3	A	T	1: 163,950,338 (GRCm38)		probably null	Het
Sh2b2	G	T	5: 136,219,657 (GRCm38)	Q510K	probably damaging	Het
Sh2b3	G	A	5: 121,818,700 (GRCm38)	P333S	probably benign	Het
Slc27a6	A	T	18: 58,609,183 (GRCm38)	N490Y	probably damaging	Het
Slc45a1	C	T	4: 150,638,545 (GRCm38)	R294Q	probably benign	Het
Sorl1	A	C	9: 41,977,582 (GRCm38)	I1974S	possibly damaging	Het
Specc1l	C	A	10: 75,263,286 (GRCm38)	N857K	probably benign	Het
Speg	T	C	1: 75,429,242 (GRCm38)	L3030P	probably damaging	Het
Spsb1	A	C	4: 149,906,900 (GRCm38)	D70E	probably benign	Het
Srsf11	A	G	3: 158,016,425 (GRCm38)	S270P	unknown	Het
Ssr3	A	C	3: 65,387,792 (GRCm38)	V100G	probably damaging	Het
Synpo	G	A	18: 60,604,475 (GRCm38)	T133I	probably damaging	Het
Tas2r120	T	G	6: 132,657,810 (GRCm38)	V285G	probably benign	Het
Tenm4	T	A	7: 96,845,926 (GRCm38)	V1187D	probably damaging	Het
Tmed8	C	A	12: 87,181,388 (GRCm38)		probably null	Het
Tmem51	G	A	4: 142,037,564 (GRCm38)	T61M	probably damaging	Het
Tonsl	A	T	15: 76,630,607 (GRCm38)	D1132E	probably benign	Het
Tor1aip1	C	T	1: 156,007,584 (GRCm38)	V358I	possibly damaging	Het
Txlna	A	T	4: 129,630,319 (GRCm38)	M415K	probably damaging	Het
Tyms	T	A	5: 30,073,560 (GRCm38)		probably benign	Het
Uggt2	G	T	14: 119,089,269 (GRCm38)	L177I	probably benign	Het
Uqcrh	T	C	4: 116,069,879 (GRCm38)	H74R	probably benign	Het
Wnk1	A	T	6: 119,932,738 (GRCm38)	S33T	probably benign	Het
Zfp553	T	A	7: 127,236,016 (GRCm38)	C248S	probably damaging	Het
Zfp574	G	A	7: 25,080,576 (GRCm38)	C341Y	possibly damaging	Het
Zfp729b	T	C	13: 67,591,498 (GRCm38)	T883A	possibly damaging	Het
Zfp738	T	A	13: 67,670,203 (GRCm38)	K556N	probably damaging	Het

Other mutations in Auh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Auh	APN	13	52,838,102 (GRCm38)	missense	probably damaging	1.00
IGL02108:Auh	APN	13	52,889,097 (GRCm38)	splice site	probably benign
IGL02613:Auh	APN	13	52,918,999 (GRCm38)	critical splice donor site	probably null
PIT4131001:Auh	UTSW	13	52,841,010 (GRCm38)	missense	probably damaging	1.00
R0046:Auh	UTSW	13	52,929,385 (GRCm38)	splice site	probably benign
R0741:Auh	UTSW	13	52,929,602 (GRCm38)	missense	possibly damaging	0.53
R1480:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1515:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1581:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1609:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1611:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1723:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1724:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1725:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1742:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1883:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1884:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R1919:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R2022:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R2071:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R2114:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R2147:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R2149:Auh	UTSW	13	52,835,496 (GRCm38)	missense	probably benign	0.00
R2429:Auh	UTSW	13	52,919,016 (GRCm38)	missense	probably damaging	1.00
R2508:Auh	UTSW	13	52,898,719 (GRCm38)	nonsense	probably null
R2960:Auh	UTSW	13	52,839,574 (GRCm38)	missense	probably damaging	1.00
R3787:Auh	UTSW	13	52,929,457 (GRCm38)	missense	possibly damaging	0.95
R4594:Auh	UTSW	13	52,912,966 (GRCm38)	unclassified	probably benign
R4989:Auh	UTSW	13	52,841,029 (GRCm38)	missense	probably damaging	1.00
R5863:Auh	UTSW	13	52,898,658 (GRCm38)	missense	probably benign	0.06
R6041:Auh	UTSW	13	52,919,086 (GRCm38)	missense	possibly damaging	0.71
R6425:Auh	UTSW	13	52,841,044 (GRCm38)	missense	probably damaging	1.00
R6430:Auh	UTSW	13	52,929,410 (GRCm38)	missense	probably benign	0.41
R6434:Auh	UTSW	13	52,929,410 (GRCm38)	missense	probably benign	0.41
R6664:Auh	UTSW	13	52,898,667 (GRCm38)	missense	probably damaging	0.99
R6865:Auh	UTSW	13	52,838,129 (GRCm38)	missense	probably damaging	1.00
R8379:Auh	UTSW	13	52,909,313 (GRCm38)	makesense	probably null
R8774:Auh	UTSW	13	52,839,595 (GRCm38)	missense	probably benign	0.21
R8774-TAIL:Auh	UTSW	13	52,839,595 (GRCm38)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TCAGCTTCCATCAAATGCCTG -3'
(R):5'- TGGTGAGTGGAAGACTACGC -3'

Sequencing Primer
(F):5'- TGTGGCTCCATCCCCAAG -3'
(R):5'- GAAGACTACGCTGTTTGCTTC -3'

Posted On

2019-10-24