Mutagenetix > Incidental Mutations

Incidental Mutation 'R4592:Guf1'

342891

Institutional Source

Beutler Lab

Gene Symbol

Guf1

Ensembl Gene

ENSMUSG00000029208

Gene Name

GUF1 homolog, GTPase

Synonyms

MMRRC Submission

041808-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.777) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69556923-69575973 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69566443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 367 (V367A)

Ref Sequence

ENSEMBL: ENSMUSP00000031113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031113] [ENSMUST00000087228] [ENSMUST00000132169] [ENSMUST00000144363] [ENSMUST00000154728] [ENSMUST00000173205]

AlphaFold

Q8C3X4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031113
AA Change: V367A

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208
AA Change: V367A

Domain	Start	End	E-Value	Type
low complexity region	7	29	N/A	INTRINSIC
Pfam:GTP_EFTU	48	227	2.9e-53	PFAM
Pfam:MMR_HSR1	52	177	1.1e-7	PFAM
Pfam:Ras	83	227	2.4e-7	PFAM
low complexity region	336	349	N/A	INTRINSIC
EFG_C	364	450	9.13e-1	SMART
Pfam:LepA_C	452	559	3.1e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087228
AA Change: V455A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: V455A

Domain	Start	End	E-Value	Type
low complexity region	7	29	N/A	INTRINSIC
Pfam:GTP_EFTU	48	227	3.1e-54	PFAM
Pfam:MMR_HSR1	52	177	4.1e-6	PFAM
Pfam:Ras	83	226	2.9e-7	PFAM
Pfam:GTP_EFTU_D2	250	320	7e-10	PFAM
low complexity region	424	437	N/A	INTRINSIC
EFG_C	452	538	9.13e-1	SMART
Pfam:LepA_C	540	646	1.3e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125660

Predicted Effect

probably benign
Transcript: ENSMUST00000132169

SMART Domains

Protein: ENSMUSP00000144290
Gene: ENSMUSG00000029208

Domain	Start	End	E-Value	Type
low complexity region	7	29	N/A	INTRINSIC
Pfam:GTP_EFTU	48	227	6.2e-54	PFAM
Pfam:MMR_HSR1	52	177	6.2e-6	PFAM
Pfam:Ras	83	226	1.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144363

SMART Domains

Protein: ENSMUSP00000114707
Gene: ENSMUSG00000029208

Domain	Start	End	E-Value	Type
low complexity region	1	23	N/A	INTRINSIC
Pfam:GTP_EFTU	42	221	5.8e-54	PFAM
Pfam:MMR_HSR1	46	171	5.9e-6	PFAM
Pfam:Ras	77	220	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154728

SMART Domains

Protein: ENSMUSP00000144246
Gene: ENSMUSG00000029208

Domain	Start	End	E-Value	Type
low complexity region	7	29	N/A	INTRINSIC
Pfam:GTP_EFTU	48	227	6.2e-54	PFAM
Pfam:MMR_HSR1	52	177	6.2e-6	PFAM
Pfam:Ras	83	226	1.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173205

SMART Domains

Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	11	190	1.1e-53	PFAM
Pfam:MMR_HSR1	15	140	2.6e-8	PFAM
Pfam:Ras	46	190	1.6e-7	PFAM
Pfam:GTP_EFTU_D2	213	283	3.1e-9	PFAM
Pfam:EFG_C	369	454	1e-16	PFAM
Pfam:LepA_C	455	562	4.5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202180

Meta Mutation Damage Score

0.0876

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,615	S144P	probably damaging	Het
4933430I17Rik	T	A	4: 62,538,927	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,546,709	V521A	possibly damaging	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
Casp12	T	C	9: 5,352,923		probably benign	Het
Ccdc189	C	T	7: 127,585,491	R172H	probably benign	Het
Cenpf	G	A	1: 189,679,033	T318M	probably damaging	Het
Clcn2	T	C	16: 20,709,142	K525E	probably damaging	Het
Cntln	A	G	4: 84,971,182	T301A	probably benign	Het
Crat	T	C	2: 30,415,366		probably benign	Het
Cul5	A	G	9: 53,633,727		probably benign	Het
Cxcl14	A	T	13: 56,295,895	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,771,394	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,529,493	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,233,479	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,467,895	F169S	probably damaging	Het
Ddx52	T	C	11: 83,957,480	I532T	probably damaging	Het
Dnm1	T	C	2: 32,336,011	D352G	probably damaging	Het
Eif4g2	T	C	7: 111,078,302	E174G	probably damaging	Het
Enpp6	G	T	8: 47,093,032	V386L	probably damaging	Het
Eps15l1	T	C	8: 72,341,394	D904G	probably damaging	Het
Esrrb	A	G	12: 86,518,830	Y356C	probably damaging	Het
Flt3	A	T	5: 147,354,699	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,858,902	C716S	probably damaging	Het
Gm10125	T	C	18: 5,525,375		noncoding transcript	Het
Gm26996	T	A	6: 130,579,485		noncoding transcript	Het
Grik2	A	T	10: 49,422,615	F50I	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,391,796	V55A	probably benign	Het
Impg1	T	A	9: 80,440,854	I33F	probably benign	Het
Ltbp4	A	C	7: 27,325,183	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,918,290	L529H	probably damaging	Het
Negr1	T	C	3: 157,208,386		probably benign	Het
Neurog3	A	G	10: 62,133,820	T25A	probably damaging	Het
Olfr1241	T	A	2: 89,482,756	K126N	probably damaging	Het
Olfr1420	T	C	19: 11,896,762	V247A	probably benign	Het
Olfr181	T	C	16: 58,926,092	T160A	probably benign	Het
Olfr555	A	C	7: 102,659,478	Y219S	probably damaging	Het
Pax8	T	A	2: 24,443,189		probably benign	Het
Pcsk6	A	C	7: 65,931,732	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,459,216	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,925,259		probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rptor	A	G	11: 119,798,840	D321G	probably null	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Sdccag3	C	A	2: 26,388,897		probably benign	Het
Skp1a	T	C	11: 52,243,619	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,128,556	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,592,804	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,036,060	A472V	probably damaging	Het
Srsf6	T	C	2: 162,931,723	I18T	probably damaging	Het
Stom	C	T	2: 35,323,746	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,173,400	V449I	probably benign	Het
Triobp	C	T	15: 78,967,095	A483V	probably benign	Het
Vdac1	G	A	11: 52,374,972		probably null	Het
Vmn2r75	T	G	7: 86,166,286	E123D	probably benign	Het
Vmn2r79	T	A	7: 87,004,111	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,306,591	N1376K	possibly damaging	Het

Other mutations in Guf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01580:Guf1	APN	5	69565421	splice site	probably benign
IGL01739:Guf1	APN	5	69561158	missense	probably damaging	1.00
IGL03110:Guf1	APN	5	69558477	missense	probably damaging	1.00
R0054:Guf1	UTSW	5	69559561	synonymous	silent
R0219:Guf1	UTSW	5	69559586	missense	probably damaging	1.00
R0269:Guf1	UTSW	5	69559599	missense	probably damaging	0.99
R0624:Guf1	UTSW	5	69558580	missense	probably damaging	1.00
R0690:Guf1	UTSW	5	69566352	splice site	probably null
R0906:Guf1	UTSW	5	69566386	missense	probably damaging	0.99
R1082:Guf1	UTSW	5	69567212	missense	possibly damaging	0.95
R1386:Guf1	UTSW	5	69563162	missense	probably benign
R1506:Guf1	UTSW	5	69567166	missense	possibly damaging	0.85
R1859:Guf1	UTSW	5	69568460	nonsense	probably null
R1982:Guf1	UTSW	5	69567226	nonsense	probably null
R3782:Guf1	UTSW	5	69567152	missense	probably benign	0.01
R3847:Guf1	UTSW	5	69561157	missense	probably damaging	0.99
R4172:Guf1	UTSW	5	69558229	missense	possibly damaging	0.88
R4513:Guf1	UTSW	5	69561662	missense	probably benign	0.00
R4811:Guf1	UTSW	5	69564509	splice site	probably null
R5435:Guf1	UTSW	5	69563169	missense	probably benign	0.01
R5792:Guf1	UTSW	5	69560486	missense	probably damaging	1.00
R6181:Guf1	UTSW	5	69561716	missense	probably damaging	1.00
R6246:Guf1	UTSW	5	69558555	missense	probably damaging	1.00
R6411:Guf1	UTSW	5	69560511	missense	possibly damaging	0.87
R6701:Guf1	UTSW	5	69558253	missense	probably damaging	1.00
R6724:Guf1	UTSW	5	69566393	missense	probably damaging	0.99
R7634:Guf1	UTSW	5	69564544	missense	probably damaging	0.97
R7923:Guf1	UTSW	5	69561159	missense	probably benign	0.01
R8202:Guf1	UTSW	5	69563202	missense	possibly damaging	0.95
R8387:Guf1	UTSW	5	69566467	missense	probably damaging	1.00
X0018:Guf1	UTSW	5	69566366	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTGAATGCAGTCTGTTCTAAATG -3'
(R):5'- TCTATAAGCAAGAGTTTTGGGGAAG -3'

Sequencing Primer
(F):5'- GTACTATCTGTGAAAAGCAAGCCTG -3'
(R):5'- GAGACAAGGTTTCTCTGTATAGCCC -3'

Posted On

2015-09-24