Mutagenetix > Incidental Mutation

Incidental Mutation 'R6891:Eral1'

537229

Institutional Source

Beutler Lab

Gene Symbol

Eral1

Ensembl Gene

ENSMUSG00000020832

Gene Name

Era like 12S mitochondrial rRNA chaperone 1

Synonyms

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

MMRRC Submission

044985-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6891 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77964202-77971209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77966559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 234 (V234I)

Ref Sequence

ENSEMBL: ENSMUSP00000021183 (fasta)

Gene Model

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

AlphaFold

Q9CZU4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021183
AA Change: V234I

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021183
Gene: ENSMUSG00000020832
AA Change: V234I

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

Meta Mutation Damage Score

0.1387

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	C	T	9: 107,806,346 (GRCm39)	A223V	probably benign	Het
Agbl5	G	T	5: 31,052,522 (GRCm39)	R61L	probably damaging	Het
Agmat	A	T	4: 141,483,192 (GRCm39)	T209S	probably benign	Het
Ankrd34a	G	A	3: 96,505,335 (GRCm39)	V180I	probably benign	Het
Anks1	C	T	17: 28,276,398 (GRCm39)	T1047M	probably damaging	Het
Arhgap21	T	A	2: 20,855,142 (GRCm39)	I1407F	probably damaging	Het
Armc1	C	A	3: 19,189,205 (GRCm39)	C183F	probably damaging	Het
Atg13	A	G	2: 91,516,136 (GRCm39)	M196T	probably benign	Het
AU040320	G	T	4: 126,740,231 (GRCm39)	S864I	possibly damaging	Het
Btn2a2	T	C	13: 23,667,014 (GRCm39)	D197G	probably benign	Het
Carmil1	A	G	13: 24,325,706 (GRCm39)	I208T	probably benign	Het
Cbs	T	A	17: 31,841,431 (GRCm39)	R263S	probably damaging	Het
Ccdc7a	C	A	8: 129,753,119 (GRCm39)	R204L	probably damaging	Het
Cdhr1	A	T	14: 36,819,334 (GRCm39)		probably null	Het
Cers4	G	A	8: 4,573,731 (GRCm39)	R378Q	probably damaging	Het
Chst1	T	G	2: 92,444,088 (GRCm39)	L187V	probably benign	Het
Clec4e	A	T	6: 123,260,565 (GRCm39)	N164K	probably damaging	Het
Cln3	T	A	7: 126,181,975 (GRCm39)	D29V	possibly damaging	Het
Crybg2	A	G	4: 133,809,148 (GRCm39)	S187G	probably benign	Het
Ddx1	A	T	12: 13,286,096 (GRCm39)	N285K	probably benign	Het
Dmxl2	A	G	9: 54,387,664 (GRCm39)	I58T	probably damaging	Het
Dock4	A	G	12: 40,829,135 (GRCm39)	Y1007C	probably damaging	Het
Fads2b	C	A	2: 85,319,149 (GRCm39)	M384I	possibly damaging	Het
Fads2b	T	G	2: 85,319,157 (GRCm39)	T382P	probably damaging	Het
Fam161b	A	G	12: 84,401,554 (GRCm39)	F400S	probably damaging	Het
Fmnl3	T	C	15: 99,223,754 (GRCm39)	D314G	probably damaging	Het
Foxred2	A	T	15: 77,839,909 (GRCm39)	L127Q	probably damaging	Het
Gjd2	G	A	2: 113,843,575 (GRCm39)	A14V	possibly damaging	Het
Gon4l	A	G	3: 88,766,173 (GRCm39)		probably null	Het
Gpr151	T	A	18: 42,711,985 (GRCm39)	D231V	probably benign	Het
Gzf1	A	T	2: 148,526,689 (GRCm39)	K387*	probably null	Het
Hfm1	T	A	5: 107,065,240 (GRCm39)	K146N	possibly damaging	Het
Hgf	G	A	5: 16,809,920 (GRCm39)		probably null	Het
Isoc2b	A	G	7: 4,854,487 (GRCm39)	S15P	probably damaging	Het
Itga5	A	G	15: 103,265,970 (GRCm39)	S126P	probably damaging	Het
Kat6b	A	G	14: 21,719,104 (GRCm39)	D1152G	probably benign	Het
Kcna4	C	T	2: 107,126,652 (GRCm39)	S462F	probably damaging	Het
Kif24	A	T	4: 41,394,168 (GRCm39)	C902S	probably benign	Het
Lama2	A	T	10: 27,204,068 (GRCm39)	C523*	probably null	Het
Lama2	G	C	10: 27,204,078 (GRCm39)	S520*	probably null	Het
Ltf	T	C	9: 110,854,181 (GRCm39)	V332A	probably benign	Het
Mapkap1	T	C	2: 34,453,153 (GRCm39)	F349L	probably damaging	Het
Mdm1	A	G	10: 117,983,937 (GRCm39)	N188D	probably benign	Het
Mfn1	T	C	3: 32,631,252 (GRCm39)	S730P	possibly damaging	Het
Mrgprd	T	A	7: 144,876,087 (GRCm39)	D319E	probably benign	Het
Mrps9	C	A	1: 42,944,573 (GRCm39)	L364I	probably damaging	Het
Myo1h	C	T	5: 114,487,673 (GRCm39)	R626C	probably damaging	Het
Nme3	T	C	17: 25,115,829 (GRCm39)	S61P	probably benign	Het
Or2g1	A	G	17: 38,106,395 (GRCm39)	Q20R	probably benign	Het
Or52e18	A	G	7: 104,609,192 (GRCm39)	I249T	probably damaging	Het
Pald1	A	G	10: 61,184,311 (GRCm39)		probably null	Het
Papola	A	T	12: 105,775,950 (GRCm39)		probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Plch1	T	C	3: 63,605,504 (GRCm39)	T1458A	probably benign	Het
Polr3e	A	G	7: 120,543,873 (GRCm39)	Q659R	probably damaging	Het
Pramel38	C	A	5: 94,365,978 (GRCm39)	P32Q	probably damaging	Het
Shoc2	T	C	19: 53,976,548 (GRCm39)	V146A	probably benign	Het
Slc15a1	T	C	14: 121,713,442 (GRCm39)	T362A	probably benign	Het
Smpd3	A	G	8: 106,991,300 (GRCm39)	Y418H	probably damaging	Het
Sorcs1	A	T	19: 50,213,557 (GRCm39)	C723*	probably null	Het
Supt7l	T	A	5: 31,680,365 (GRCm39)	N16Y	probably damaging	Het
Syngr2	T	C	11: 117,703,499 (GRCm39)	V105A	probably damaging	Het
Thrb	T	A	14: 17,981,899 (GRCm38)	V8E	probably benign	Het
Tlx1	A	T	19: 45,139,757 (GRCm39)	I135F	probably damaging	Het
Tnfaip3	A	G	10: 18,887,417 (GRCm39)	I36T	probably damaging	Het
Troap	A	G	15: 98,980,569 (GRCm39)	Y583C	possibly damaging	Het
Usp17lb	T	C	7: 104,490,307 (GRCm39)	K207E	probably benign	Het
Vmn2r10	C	T	5: 109,149,845 (GRCm39)	V400M	probably damaging	Het
Wdr49	A	T	3: 75,240,590 (GRCm39)		probably null	Het
Wdr64	G	T	1: 175,533,634 (GRCm39)	W90L	probably damaging	Het
Yme1l1	A	G	2: 23,085,401 (GRCm39)	E662G	probably damaging	Het
Zfp334	C	T	2: 165,224,644 (GRCm39)	V68I	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
IGL03085:Eral1	APN	11	77,969,093 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTAAGCTTCTTGCCATTGACAACAC -3'
(R):5'- AATGGGGCCTTTCATTCCTG -3'

Sequencing Primer
(F):5'- TTGCCATTGACAACACCTTCAG -3'
(R):5'- CATTCCTGGGAGTTTGGGAGC -3'

Posted On

2018-10-18