Mutagenetix > Incidental Mutation

Incidental Mutation 'R1995:Eral1'

225694

Institutional Source

Beutler Lab

Gene Symbol

Eral1

Ensembl Gene

ENSMUSG00000020832

Gene Name

Era (G-protein)-like 1 (E. coli)

Synonyms

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

MMRRC Submission

040005-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1995 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78073376-78080383 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78074489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 367 (G367S)

Ref Sequence

ENSEMBL: ENSMUSP00000021183 (fasta)

Gene Model

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

AlphaFold

Q9CZU4

Predicted Effect

probably benign
Transcript: ENSMUST00000021183
AA Change: G367S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021183
Gene: ENSMUSG00000020832
AA Change: G367S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	G	13: 59,531,058	K145N	probably damaging	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Btbd9	A	G	17: 30,274,930	Y496H	possibly damaging	Het
Catsperb	T	A	12: 101,602,767	N899K	possibly damaging	Het
Ccdc129	T	C	6: 55,968,709	I805T	probably benign	Het
Cenpl	T	C	1: 161,078,424	S123P	probably damaging	Het
Cep120	G	A	18: 53,740,136	T41I	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cnbd1	G	A	4: 19,055,112	P105S	possibly damaging	Het
Col6a1	T	C	10: 76,721,956	N149D	probably damaging	Het
Ctnna3	T	A	10: 63,820,364	V241D	probably damaging	Het
Dcbld2	A	C	16: 58,456,332	E495D	probably benign	Het
Dmp1	T	G	5: 104,209,913	S40A	possibly damaging	Het
Dpysl4	A	G	7: 139,096,770	I379V	probably benign	Het
Fah	C	T	7: 84,602,181	R31Q	probably damaging	Het
Fbn1	T	A	2: 125,350,373		probably null	Het
Fbxo40	T	C	16: 36,969,869	D293G	probably damaging	Het
Gemin6	A	C	17: 80,227,985	T125P	probably damaging	Het
Gpbar1	G	A	1: 74,279,444	G282D	possibly damaging	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Gucy1b1	A	G	3: 82,034,853	I533T	probably damaging	Het
H2-M9	A	T	17: 36,641,786	Y123N	probably damaging	Het
Hipk2	C	A	6: 38,715,974	D868Y	probably damaging	Het
Jarid2	T	C	13: 44,874,441	L123P	probably damaging	Het
Kcnb2	C	A	1: 15,709,766	N287K	possibly damaging	Het
Kdm8	G	A	7: 125,452,339	G35S	probably benign	Het
Kirrel	G	T	3: 87,095,786	A100D	possibly damaging	Het
Ltbp2	T	G	12: 84,808,446		probably null	Het
Mfsd12	C	A	10: 81,357,681	H28Q	probably damaging	Het
Neb	C	T	2: 52,298,732	V837M	probably damaging	Het
Nkain2	A	G	10: 32,402,351	I26T	possibly damaging	Het
Nuggc	A	G	14: 65,611,174	R175G	probably benign	Het
Olfr1122	T	G	2: 87,387,831	I42R	probably damaging	Het
Olfr1161	T	A	2: 88,025,672	S317T	probably benign	Het
Olfr205	A	G	16: 59,329,291	S73P	probably damaging	Het
Olfr965	T	C	9: 39,719,413	F62S	probably damaging	Het
Pcnt	G	A	10: 76,392,799	Q1511*	probably null	Het
Piezo2	G	T	18: 63,078,781	T1311K	probably damaging	Het
Pik3c2a	T	C	7: 116,354,006	Y1218C	probably damaging	Het
Pik3r4	T	A	9: 105,669,165	S905T	probably benign	Het
Pikfyve	T	A	1: 65,246,708	D1035E	probably damaging	Het
Pkn3	G	C	2: 30,089,977	G744A	probably damaging	Het
Pms1	A	G	1: 53,195,015	S781P	probably benign	Het
Pogz	C	T	3: 94,877,944	R793W	probably damaging	Het
Prrc2a	A	T	17: 35,157,429	V795D	probably damaging	Het
Rock1	G	A	18: 10,101,026	R630*	probably null	Het
Scd4	T	A	19: 44,334,178	I70N	possibly damaging	Het
Serpine2	A	G	1: 79,821,442	S32P	probably damaging	Het
Slc9c1	A	C	16: 45,554,255	T328P	probably damaging	Het
Spata31d1b	G	C	13: 59,716,380	L447F	probably benign	Het
Speer2	A	G	16: 69,858,077	S167P	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Tbcel	C	A	9: 42,451,661	G29W	probably damaging	Het
Tmcc3	T	C	10: 94,578,606	S57P	possibly damaging	Het
Tmem240	T	A	4: 155,739,847	D125E	possibly damaging	Het
Ttll7	G	A	3: 146,961,755	C792Y	possibly damaging	Het
Vmn1r177	T	A	7: 23,865,687	I255F	probably damaging	Het
Zp2	T	A	7: 120,135,165	I554F	probably damaging	Het

Other mutations in Eral1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01478:Eral1	APN	11	78075732	missense	probably damaging	1.00
IGL01643:Eral1	APN	11	78074278	critical splice donor site	probably null
IGL02240:Eral1	APN	11	78077861	nonsense	probably null
IGL03085:Eral1	APN	11	78078267	missense	probably damaging	1.00
K3955:Eral1	UTSW	11	78076021	missense	probably damaging	1.00
P0038:Eral1	UTSW	11	78076021	missense	probably damaging	1.00
R0240:Eral1	UTSW	11	78076058	splice site	probably benign
R1084:Eral1	UTSW	11	78074498	missense	probably damaging	0.96
R1563:Eral1	UTSW	11	78075406	missense	probably benign	0.39
R1881:Eral1	UTSW	11	78076049	missense	possibly damaging	0.67
R2189:Eral1	UTSW	11	78075831	missense	probably benign	0.15
R2870:Eral1	UTSW	11	78076278	missense	possibly damaging	0.95
R2870:Eral1	UTSW	11	78076278	missense	possibly damaging	0.95
R4049:Eral1	UTSW	11	78075602	missense	probably damaging	1.00
R4585:Eral1	UTSW	11	78078304	missense	probably damaging	1.00
R4586:Eral1	UTSW	11	78078304	missense	probably damaging	1.00
R4758:Eral1	UTSW	11	78075599	missense	probably benign	0.20
R5450:Eral1	UTSW	11	78078357	missense	probably benign	0.23
R5613:Eral1	UTSW	11	78074404	intron	probably benign
R5987:Eral1	UTSW	11	78080233	missense	possibly damaging	0.90
R6048:Eral1	UTSW	11	78075783	missense	probably benign	0.03
R6363:Eral1	UTSW	11	78074317	missense	probably damaging	1.00
R6891:Eral1	UTSW	11	78075733	missense	possibly damaging	0.76
R7384:Eral1	UTSW	11	78074101	missense	possibly damaging	0.81
R7468:Eral1	UTSW	11	78075393	missense	probably damaging	1.00
R7762:Eral1	UTSW	11	78074533	missense	possibly damaging	0.94
R8304:Eral1	UTSW	11	78076002	missense	probably damaging	0.96
R8419:Eral1	UTSW	11	78074080	missense	possibly damaging	0.73
R8433:Eral1	UTSW	11	78075483	missense	probably benign
R9136:Eral1	UTSW	11	78074134	missense
R9384:Eral1	UTSW	11	78078304	missense	probably damaging	1.00
R9670:Eral1	UTSW	11	78074584	missense
X0066:Eral1	UTSW	11	78075765	missense	probably damaging	1.00
Z1176:Eral1	UTSW	11	78075620	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTTCTGTTGGATCACTAGCTC -3'
(R):5'- AGCCTTTTCCTCCTAGAAGCATG -3'

Sequencing Primer
(F):5'- GGATCACTAGCTCTCCACTTGG -3'
(R):5'- TGCATAAACAAATGTTCTGATGGGG -3'

Posted On

2014-08-25