Mutagenetix > Incidental Mutation

Incidental Mutation 'R8304:Eral1'

639398

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

067791-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77964202-77971209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77966828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 196 (S196T)

Ref Sequence

ENSEMBL: ENSMUSP00000021183 (fasta)

Gene Model

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

AlphaFold

Q9CZU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000021183
AA Change: S196T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021183
Gene: ENSMUSG00000020832
AA Change: S196T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (58/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,997,954 (GRCm39)		probably null	Het
Akap11	T	C	14: 78,750,672 (GRCm39)	T572A		Het
Amigo2	A	T	15: 97,144,038 (GRCm39)	L128Q	probably damaging	Het
Ankrd12	A	G	17: 66,291,542 (GRCm39)	I1297T	possibly damaging	Het
Arhgap32	T	A	9: 32,167,233 (GRCm39)	C623*	probably null	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Asb15	C	T	6: 24,559,296 (GRCm39)	P147L	possibly damaging	Het
Caprin1	G	T	2: 103,599,862 (GRCm39)	N604K	probably damaging	Het
Ccnl2	T	C	4: 155,897,679 (GRCm39)	F113L	probably benign	Het
Cltc	C	T	11: 86,616,087 (GRCm39)	R393H	probably benign	Het
Cul4a	G	A	8: 13,177,727 (GRCm39)	C289Y	possibly damaging	Het
Cyp4a29	T	A	4: 115,111,653 (GRCm39)	F477I	probably damaging	Het
Dapk2	C	T	9: 66,139,027 (GRCm39)	A116V	possibly damaging	Het
Ddx60	T	C	8: 62,451,803 (GRCm39)	I1231T	possibly damaging	Het
Eif5b	A	G	1: 38,084,774 (GRCm39)	I874V	probably benign	Het
Erc2	T	G	14: 27,375,122 (GRCm39)	D113E	probably damaging	Het
Frmpd2	A	G	14: 33,274,066 (GRCm39)	I1103V	possibly damaging	Het
Galm	A	G	17: 80,490,766 (GRCm39)	T308A	probably damaging	Het
Helz2	A	T	2: 180,871,950 (GRCm39)	N2650K	probably benign	Het
Herc2	A	G	7: 55,809,186 (GRCm39)	D2562G	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Hspbap1	T	A	16: 35,607,695 (GRCm39)	L67*	probably null	Het
Irx3	T	A	8: 92,526,834 (GRCm39)	D290V	probably damaging	Het
Kcns1	A	T	2: 164,010,022 (GRCm39)	Y246N	probably damaging	Het
Kidins220	A	G	12: 25,107,127 (GRCm39)	T1557A	probably benign	Het
Lrriq1	T	C	10: 103,069,929 (GRCm39)	N29S	possibly damaging	Het
Mmp24	T	C	2: 155,641,759 (GRCm39)	F196L	possibly damaging	Het
Mroh2b	T	C	15: 4,955,119 (GRCm39)	V704A	probably damaging	Het
Mst1	A	G	9: 107,958,803 (GRCm39)	M112V	probably benign	Het
Myh8	C	A	11: 67,195,162 (GRCm39)	H1659N	possibly damaging	Het
Nlgn1	C	T	3: 26,187,534 (GRCm39)	C117Y	probably damaging	Het
Opa1	C	T	16: 29,416,489 (GRCm39)	T237M	possibly damaging	Het
Or2r2	C	T	6: 42,463,672 (GRCm39)	V152I	probably benign	Het
Or51f5	A	G	7: 102,423,917 (GRCm39)	Y62C	possibly damaging	Het
Or5v1	A	T	17: 37,810,261 (GRCm39)	T240S	probably damaging	Het
Or8b57	A	T	9: 40,003,650 (GRCm39)	I204N	probably damaging	Het
P3h1	C	T	4: 119,104,402 (GRCm39)	T641M	probably damaging	Het
Pak5	T	C	2: 135,940,203 (GRCm39)	H537R	probably benign	Het
Ppp1r12b	A	T	1: 134,824,101 (GRCm39)	L174Q	possibly damaging	Het
Prkg1	A	G	19: 30,701,584 (GRCm39)	V326A	possibly damaging	Het
Psmb3	T	A	11: 97,601,995 (GRCm39)	C122S	probably benign	Het
Sh3bgrl3	C	A	4: 133,855,312 (GRCm39)	A45S	probably benign	Het
Slc25a47	T	C	12: 108,821,868 (GRCm39)	V219A	possibly damaging	Het
Slfn9	A	C	11: 82,873,605 (GRCm39)	S433A	probably benign	Het
Spata13	A	T	14: 60,993,957 (GRCm39)	R1136S	possibly damaging	Het
Stab1	C	A	14: 30,870,911 (GRCm39)	A1313S	probably benign	Het
Stim1	G	A	7: 102,084,688 (GRCm39)	A547T	possibly damaging	Het
Taf5l	A	T	8: 124,730,251 (GRCm39)	I146N	probably benign	Het
Tbc1d12	A	T	19: 38,825,824 (GRCm39)	E225V	possibly damaging	Het
Tesc	T	C	5: 118,194,495 (GRCm39)	Y135H	probably benign	Het
Tfg	T	C	16: 56,521,581 (GRCm39)	E145G	possibly damaging	Het
Tg	T	A	15: 66,565,109 (GRCm39)	C1150*	probably null	Het
Tmtc1	T	C	6: 148,172,883 (GRCm39)	N616S	probably damaging	Het
Trpm7	A	T	2: 126,639,797 (GRCm39)	W1600R	probably damaging	Het
Ttc17	A	T	2: 94,199,526 (GRCm39)		probably benign	Het
Zfand1	A	T	3: 10,413,615 (GRCm39)	L24*	probably null	Het
Zfp282	AGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGC	6: 47,881,722 (GRCm39)		probably benign	Het
Zfp770	A	C	2: 114,027,891 (GRCm39)	F59L	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
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
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'- CTACAACTAGAAGGTGGCAGAC -3'
(R):5'- ACACCTGGCATCATCAGTCC -3'

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

Posted On

2020-07-28