Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03085:Eral1'

418039

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eral1

Ensembl Gene

ENSMUSG00000020832

Gene Name

Era like 12S mitochondrial rRNA chaperone 1

Synonyms

MERA-S, 9130407C09Rik, 2610524P08Rik, MERA-W

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03085

Quality Score

Status

Chromosome

Chromosomal Location

77964202-77971209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77969093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 136 (R136C)

Ref Sequence

ENSEMBL: ENSMUSP00000021183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021183]

AlphaFold

Q9CZU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000021183
AA Change: R136C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021183
Gene: ENSMUSG00000020832
AA Change: R136C

Domain	Start	End	E-Value	Type
low complexity region	79	92	N/A	INTRINSIC
Pfam:AIG1	114	249	2.2e-11	PFAM
Pfam:FeoB_N	114	260	5e-10	PFAM
Pfam:MMR_HSR1	115	237	4e-21	PFAM
Pfam:Dynamin_N	116	162	1.6e-6	PFAM
Pfam:KH_2	363	437	6.3e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139731

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 64,208,881 (GRCm39)	H230Q	probably benign	Het
Aagab	T	A	9: 63,546,316 (GRCm39)		probably benign	Het
Actl11	G	T	9: 107,806,749 (GRCm39)	K357N	probably damaging	Het
Aktip	A	G	8: 91,852,651 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,529,501 (GRCm39)		probably benign	Het
Arhgap21	T	A	2: 20,919,532 (GRCm39)	M58L	probably benign	Het
Art2b	T	A	7: 101,229,785 (GRCm39)	Y38F	probably damaging	Het
Asb10	T	C	5: 24,744,601 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,395,471 (GRCm39)	D1699E	possibly damaging	Het
Azi2	A	C	9: 117,888,214 (GRCm39)	K259T	probably damaging	Het
Bcas3	A	G	11: 85,367,609 (GRCm39)	D77G	probably damaging	Het
Birc6	G	A	17: 74,903,945 (GRCm39)	R1246H	probably damaging	Het
Cdh13	C	A	8: 120,015,463 (GRCm39)	D559E	probably damaging	Het
Chrm3	C	T	13: 9,927,570 (GRCm39)	A489T	probably damaging	Het
Ckap2l	A	T	2: 129,126,967 (GRCm39)	Y404N	probably benign	Het
Col18a1	A	G	10: 76,895,015 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,272,198 (GRCm39)	K731*	probably null	Het
Corin	A	T	5: 72,511,273 (GRCm39)	C360S	probably damaging	Het
Cyp1a1	A	C	9: 57,608,995 (GRCm39)	H292P	possibly damaging	Het
Dennd5b	A	G	6: 148,928,893 (GRCm39)	V760A	probably damaging	Het
Dhx57	T	C	17: 80,565,526 (GRCm39)	D842G	possibly damaging	Het
Emp2	C	A	16: 10,105,910 (GRCm39)		probably benign	Het
Fat2	T	A	11: 55,174,072 (GRCm39)	M2214L	probably benign	Het
Flnb	G	A	14: 7,882,211 (GRCm38)	R304H	probably benign	Het
G6pd2	A	T	5: 61,967,645 (GRCm39)	E473D	probably benign	Het
Gpx8	A	G	13: 113,179,795 (GRCm39)	Y169H	probably damaging	Het
Ighv1-64	A	G	12: 115,471,461 (GRCm39)	S19P	possibly damaging	Het
Ikbkb	G	T	8: 23,172,802 (GRCm39)	N139K	probably benign	Het
Inpp5b	A	T	4: 124,686,115 (GRCm39)	T720S	probably benign	Het
Kmt2d	C	A	15: 98,737,821 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,374,575 (GRCm39)	P169S	probably damaging	Het
Magi3	T	A	3: 103,922,655 (GRCm39)	K1354I	possibly damaging	Het
Mapk9	A	T	11: 49,757,865 (GRCm39)	D103V	probably damaging	Het
Mrpl46	A	T	7: 78,431,333 (GRCm39)	I75N	probably damaging	Het
Or3a1c	T	A	11: 74,046,511 (GRCm39)	I177N	probably damaging	Het
Or8b41	A	G	9: 38,054,479 (GRCm39)	E16G	probably damaging	Het
Or8d2b	G	A	9: 38,788,959 (GRCm39)	M162I	probably benign	Het
Otog	G	T	7: 45,955,346 (GRCm39)		probably null	Het
Pex11a	A	G	7: 79,387,523 (GRCm39)	L103P	probably damaging	Het
Pnpla8	A	G	12: 44,358,305 (GRCm39)	T687A	probably benign	Het
Ppm1d	A	G	11: 85,227,989 (GRCm39)	I302V	probably null	Het
Prdm11	C	A	2: 92,805,304 (GRCm39)	V549F	possibly damaging	Het
Prss54	G	A	8: 96,292,258 (GRCm39)	P107L	probably benign	Het
Rasa3	T	A	8: 13,635,690 (GRCm39)	N422I	probably benign	Het
Rbm27	T	C	18: 42,460,589 (GRCm39)		probably benign	Het
Rpl13-ps3	A	T	14: 59,131,156 (GRCm39)		noncoding transcript	Het
Rps6ka2	G	A	17: 7,562,679 (GRCm39)		probably null	Het
Sphkap	T	A	1: 83,258,075 (GRCm39)	I223F	possibly damaging	Het
Srm	T	C	4: 148,677,838 (GRCm39)	F159L	probably damaging	Het
Stt3a	A	G	9: 36,644,266 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,638,027 (GRCm39)	S395P	possibly damaging	Het
Tecpr2	A	G	12: 110,921,260 (GRCm39)		probably benign	Het
Tmub1	C	T	5: 24,651,096 (GRCm39)	G188S	probably damaging	Het
Trim66	T	A	7: 109,057,952 (GRCm39)	I877F	probably benign	Het
Ubr5	T	C	15: 38,029,812 (GRCm39)	E471G	probably damaging	Het
Vmn1r218	A	T	13: 23,321,481 (GRCm39)	Y196F	possibly damaging	Het
Vmn2r89	T	A	14: 51,689,615 (GRCm39)	D39E	probably damaging	Het
Wee1	C	A	7: 109,723,805 (GRCm39)	P240Q	probably damaging	Het
Zc3h12a	A	T	4: 125,020,813 (GRCm39)	V10D	probably benign	Het
Zzef1	T	C	11: 72,746,350 (GRCm39)		probably benign	Het

Other mutations in Eral1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01478:Eral1	APN	11	77,966,558 (GRCm39)	missense	probably damaging	1.00
IGL01643:Eral1	APN	11	77,965,104 (GRCm39)	critical splice donor site	probably null
IGL02240:Eral1	APN	11	77,968,687 (GRCm39)	nonsense	probably null
K3955:Eral1	UTSW	11	77,966,847 (GRCm39)	missense	probably damaging	1.00
P0038:Eral1	UTSW	11	77,966,847 (GRCm39)	missense	probably damaging	1.00
R0240:Eral1	UTSW	11	77,966,884 (GRCm39)	splice site	probably benign
R1084:Eral1	UTSW	11	77,965,324 (GRCm39)	missense	probably damaging	0.96
R1563:Eral1	UTSW	11	77,966,232 (GRCm39)	missense	probably benign	0.39
R1881:Eral1	UTSW	11	77,966,875 (GRCm39)	missense	possibly damaging	0.67
R1995:Eral1	UTSW	11	77,965,315 (GRCm39)	missense	probably benign
R2189:Eral1	UTSW	11	77,966,657 (GRCm39)	missense	probably benign	0.15
R2870:Eral1	UTSW	11	77,967,104 (GRCm39)	missense	possibly damaging	0.95
R2870:Eral1	UTSW	11	77,967,104 (GRCm39)	missense	possibly damaging	0.95
R4049:Eral1	UTSW	11	77,966,428 (GRCm39)	missense	probably damaging	1.00
R4585:Eral1	UTSW	11	77,969,130 (GRCm39)	missense	probably damaging	1.00
R4586:Eral1	UTSW	11	77,969,130 (GRCm39)	missense	probably damaging	1.00
R4758:Eral1	UTSW	11	77,966,425 (GRCm39)	missense	probably benign	0.20
R5450:Eral1	UTSW	11	77,969,183 (GRCm39)	missense	probably benign	0.23
R5613:Eral1	UTSW	11	77,965,230 (GRCm39)	intron	probably benign
R5987:Eral1	UTSW	11	77,971,059 (GRCm39)	missense	possibly damaging	0.90
R6048:Eral1	UTSW	11	77,966,609 (GRCm39)	missense	probably benign	0.03
R6363:Eral1	UTSW	11	77,965,143 (GRCm39)	missense	probably damaging	1.00
R6891:Eral1	UTSW	11	77,966,559 (GRCm39)	missense	possibly damaging	0.76
R7384:Eral1	UTSW	11	77,964,927 (GRCm39)	missense	possibly damaging	0.81
R7468:Eral1	UTSW	11	77,966,219 (GRCm39)	missense	probably damaging	1.00
R7762:Eral1	UTSW	11	77,965,359 (GRCm39)	missense	possibly damaging	0.94
R8304:Eral1	UTSW	11	77,966,828 (GRCm39)	missense	probably damaging	0.96
R8419:Eral1	UTSW	11	77,964,906 (GRCm39)	missense	possibly damaging	0.73
R8433:Eral1	UTSW	11	77,966,309 (GRCm39)	missense	probably benign
R9136:Eral1	UTSW	11	77,964,960 (GRCm39)	missense
R9384:Eral1	UTSW	11	77,969,130 (GRCm39)	missense	probably damaging	1.00
R9670:Eral1	UTSW	11	77,965,410 (GRCm39)	missense
X0066:Eral1	UTSW	11	77,966,591 (GRCm39)	missense	probably damaging	1.00
Z1176:Eral1	UTSW	11	77,966,446 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02