Mutagenetix > Incidental Mutation

Incidental Mutation 'R1881:Eral1'

209127

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

039902-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77964202-77971209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77966875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 180 (H180L)

Ref Sequence

ENSEMBL: ENSMUSP00000021183 (fasta)

Gene Model

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

AlphaFold

Q9CZU4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021183
AA Change: H180L

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021183
Gene: ENSMUSG00000020832
AA Change: H180L

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: ENSMUST00000083467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000093557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196157

Meta Mutation Damage Score

0.4495

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

96% (71/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	A	11: 84,161,213 (GRCm39)	Y1026*	probably null	Het
Acaca	T	G	11: 84,191,297 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,678,503 (GRCm39)	M483I	probably damaging	Het
Adgrb2	G	A	4: 129,904,078 (GRCm39)	G735S	probably damaging	Het
Akap9	A	G	5: 4,100,173 (GRCm39)	T2612A	probably benign	Het
Armc1	A	T	3: 19,189,060 (GRCm39)	S202T	possibly damaging	Het
Arsj	T	C	3: 126,232,486 (GRCm39)	S411P	probably damaging	Het
Ash1l	T	C	3: 88,888,862 (GRCm39)	V247A	probably benign	Het
Camta2	T	C	11: 70,562,842 (GRCm39)	D935G	probably benign	Het
Cc2d2a	G	T	5: 43,898,170 (GRCm39)	V1626F	probably damaging	Het
Cpne3	T	A	4: 19,535,266 (GRCm39)	R255S	probably benign	Het
Cramp1	A	G	17: 25,196,656 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cstf3	A	T	2: 104,484,563 (GRCm39)	M396L	probably benign	Het
Ctnnd2	A	G	15: 31,005,227 (GRCm39)		probably benign	Het
Cul7	A	T	17: 46,962,888 (GRCm39)	Y173F	probably damaging	Het
Dach1	A	T	14: 98,138,832 (GRCm39)	M537K	probably benign	Het
Ddhd2	T	C	8: 26,217,727 (GRCm39)	I717V	probably damaging	Het
Dnm1	C	T	2: 32,213,742 (GRCm39)	V475I	probably damaging	Het
Dnm3	C	T	1: 162,305,517 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,405,597 (GRCm39)		probably benign	Het
Eaf2	A	T	16: 36,620,941 (GRCm39)		probably benign	Het
En1	T	A	1: 120,530,904 (GRCm39)	V48E	unknown	Het
Fry	T	A	5: 150,401,511 (GRCm39)	C2760S	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ifnl2	T	A	7: 28,209,112 (GRCm39)	R68W	probably damaging	Het
Il6st	A	G	13: 112,640,947 (GRCm39)	T908A	probably damaging	Het
Krtap4-1	C	T	11: 99,518,990 (GRCm39)	G7S	probably null	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mup5	C	A	4: 61,752,868 (GRCm39)	E52*	probably null	Het
Myh15	A	G	16: 48,891,446 (GRCm39)	I189V	probably damaging	Het
Nav3	T	A	10: 109,688,420 (GRCm39)	Q619L	probably damaging	Het
Or14a257	T	C	7: 86,138,646 (GRCm39)	M38V	probably benign	Het
Or1p1	A	T	11: 74,179,492 (GRCm39)	T7S	probably benign	Het
Or4n4b	A	G	14: 50,536,472 (GRCm39)	I98T	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Pam	T	C	1: 97,850,876 (GRCm39)	T161A	probably benign	Het
Phf8-ps	T	A	17: 33,284,258 (GRCm39)	D848V	probably damaging	Het
Pigs	T	C	11: 78,232,582 (GRCm39)	V472A	probably benign	Het
Plek	A	T	11: 16,940,111 (GRCm39)	N176K	probably benign	Het
Poc5	A	G	13: 96,535,239 (GRCm39)	N168S	probably benign	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Rttn	T	A	18: 89,033,336 (GRCm39)	S716T	probably damaging	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Slc25a20	G	A	9: 108,557,408 (GRCm39)		probably null	Het
Slc5a6	A	T	5: 31,194,155 (GRCm39)	L634Q	probably damaging	Het
Slfn3	A	G	11: 83,104,202 (GRCm39)	I235V	possibly damaging	Het
Smarcc1	T	A	9: 110,004,167 (GRCm39)	L407Q	probably damaging	Het
Spata32	T	C	11: 103,101,561 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,723,783 (GRCm39)		probably null	Het
Thada	A	G	17: 84,744,130 (GRCm39)	V726A	probably benign	Het
Tmed7	A	T	18: 46,721,622 (GRCm39)		probably null	Het
Tmem161a	G	A	8: 70,633,435 (GRCm39)	G94S	probably null	Het
Tmem81	T	A	1: 132,435,948 (GRCm39)		probably benign	Het
Trim63	C	A	4: 134,043,702 (GRCm39)	A55E	probably damaging	Het
Trmt1	A	C	8: 85,415,896 (GRCm39)		probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Tshz3	T	C	7: 36,471,079 (GRCm39)	S1023P	possibly damaging	Het
Upk3bl	G	A	5: 136,086,157 (GRCm39)	R31Q	probably benign	Het
Usp40	T	C	1: 87,921,993 (GRCm39)	D290G	probably benign	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r26	T	A	6: 57,985,650 (GRCm39)	T180S	probably benign	Het
Wdr48	G	T	9: 119,738,606 (GRCm39)	V89L	probably benign	Het
Wdr6	G	T	9: 108,450,378 (GRCm39)		probably null	Het
Zfp345	A	G	2: 150,314,275 (GRCm39)	Y421H	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGACCCACGACAAGTTC -3'
(R):5'- TTCTGCTTGACACACCTGGC -3'

Sequencing Primer
(F):5'- ACGACAAGTTCCTGGCTACG -3'
(R):5'- CTGGCATCATCAGTCCTGTTAAACAG -3'

Posted On

2014-06-30