Mutagenetix > Incidental Mutation

Incidental Mutation 'R4586:Eral1'

344129

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

041807-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77964202-77971209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77969130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 123 (N123K)

Ref Sequence

ENSEMBL: ENSMUSP00000021183 (fasta)

Gene Model

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

AlphaFold

Q9CZU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000021183
AA Change: N123K

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

SMART Domains

Protein: ENSMUSP00000021183
Gene: ENSMUSG00000020832
AA Change: N123K

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

Meta Mutation Damage Score

0.8891

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (96/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Aqr	T	C	2: 113,943,058 (GRCm39)	T1172A	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Atrn	T	C	2: 130,823,962 (GRCm39)	F967S	probably damaging	Het
Btnl1	A	G	17: 34,601,436 (GRCm39)	D323G	probably damaging	Het
Cadps	C	A	14: 12,505,808 (GRCm38)	C754F	probably damaging	Het
Catspere2	A	G	1: 177,950,351 (GRCm39)	D734G	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Cfap298	A	T	16: 90,724,314 (GRCm39)	V136D	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Clca3a1	C	A	3: 144,722,619 (GRCm39)	C251F	probably damaging	Het
Cldn16	A	T	16: 26,296,308 (GRCm39)	T95S	probably benign	Het
Cntnap4	C	T	8: 113,537,342 (GRCm39)	H738Y	probably benign	Het
Col8a2	A	T	4: 126,204,812 (GRCm39)		probably benign	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Cuzd1	G	A	7: 130,916,529 (GRCm39)	P310L	probably damaging	Het
Cyp4a12a	T	C	4: 115,184,509 (GRCm39)	F295L	probably benign	Het
Cyp4a12b	T	G	4: 115,289,703 (GRCm39)	M190R	probably damaging	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Ddx27	T	A	2: 166,861,904 (GRCm39)	D135E	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Dnmt1	G	A	9: 20,837,989 (GRCm39)	P242S	probably benign	Het
Dync1h1	G	A	12: 110,615,917 (GRCm39)	D3022N	probably benign	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Epc1	T	C	18: 6,449,138 (GRCm39)	N453S	possibly damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Evc	A	G	5: 37,481,057 (GRCm39)	S263P	probably damaging	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Fig4	A	C	10: 41,064,628 (GRCm39)	S872A	probably damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gprc5a	T	A	6: 135,060,450 (GRCm39)	M313K	probably benign	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
H2-T3	T	C	17: 36,500,236 (GRCm39)		probably null	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hook3	T	G	8: 26,522,039 (GRCm39)	K679T	probably damaging	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Jmjd7	T	A	2: 119,862,649 (GRCm39)	M306K	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Kmo	T	A	1: 175,478,138 (GRCm39)	M208K	probably damaging	Het
Kmo	G	T	1: 175,478,139 (GRCm39)	M208I	possibly damaging	Het
Masp2	A	G	4: 148,698,358 (GRCm39)	T480A	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mrpl43	A	G	19: 44,994,328 (GRCm39)	I97T	possibly damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ncam2	T	A	16: 81,262,457 (GRCm39)	H303Q	probably benign	Het
Ntaq1	A	T	15: 58,011,740 (GRCm39)	I34F	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or4c113	T	G	2: 88,885,498 (GRCm39)	I91L	possibly damaging	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Pno1	T	C	11: 17,161,438 (GRCm39)	K24E	probably benign	Het
Qdpr	T	A	5: 45,596,669 (GRCm39)	N165I	possibly damaging	Het
Robo2	A	G	16: 73,758,761 (GRCm39)	V674A	probably damaging	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Samd11	A	G	4: 156,333,889 (GRCm39)	L174P	probably damaging	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,569,474 (GRCm39)		probably benign	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Stt3a	T	A	9: 36,653,089 (GRCm39)	Q531L	probably damaging	Het
Tcl1	A	C	12: 105,183,767 (GRCm39)		probably benign	Het
Trip11	A	T	12: 101,849,600 (GRCm39)	M1488K	possibly damaging	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Ulk3	C	T	9: 57,501,593 (GRCm39)	L425F	possibly damaging	Het
Vmn1r238	T	A	18: 3,123,294 (GRCm39)	K40M	probably damaging	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,382,376 (GRCm39)	Y651*	probably null	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	possibly damaging	Het
Zfp846	G	T	9: 20,504,809 (GRCm39)	C223F	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTCCAATGAGACCCCAGATCTC -3'
(R):5'- AAAGTTAAGAGTGGGTGGCTTC -3'

Sequencing Primer
(F):5'- AGTTCCTAAGTGGTGGCTCACAAC -3'
(R):5'- TCTGCCTGGGGTGCTCATC -3'

Posted On

2015-09-24