Mutagenetix > Incidental Mutations

Incidental Mutation 'R3847:Guf1'

277420

Institutional Source

Beutler Lab

Gene Symbol

Guf1

Ensembl Gene

ENSMUSG00000029208

Gene Name

GUF1 homolog, GTPase

Synonyms

MMRRC Submission

040895-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.777) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69556923-69575973 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69561157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 213 (N213S)

Ref Sequence

ENSEMBL: ENSMUSP00000144246 (fasta)

Gene Model

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

AlphaFold

Q8C3X4

Predicted Effect

probably damaging
Transcript: ENSMUST00000031113
AA Change: N213S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208
AA Change: N213S

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 damaging
Transcript: ENSMUST00000087228
AA Change: N213S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: N213S

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

probably damaging
Transcript: ENSMUST00000132169
AA Change: N213S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144290
Gene: ENSMUSG00000029208
AA Change: N213S

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 damaging
Transcript: ENSMUST00000144363
AA Change: N207S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114707
Gene: ENSMUSG00000029208
AA Change: N207S

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 damaging
Transcript: ENSMUST00000154728
AA Change: N213S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144246
Gene: ENSMUSG00000029208
AA Change: N213S

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

possibly damaging
Transcript: ENSMUST00000173205
AA Change: N200S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208
AA Change: N200S

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: ENSMUST00000201115

Meta Mutation Damage Score

0.6333

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,736,324		probably null	Het
Abcc12	C	T	8: 86,553,391	E338K	probably benign	Het
Abcc5	A	T	16: 20,372,156	S815T	probably benign	Het
Ankrd16	G	A	2: 11,789,808	E335K	probably benign	Het
Atm	A	G	9: 53,503,075	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,631,652	R281H	probably damaging	Het
Blvra	C	T	2: 127,095,191	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,116,168		probably benign	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Cacng8	T	C	7: 3,394,474	S84P	probably damaging	Het
Cad	T	A	5: 31,061,650	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641	S11P	probably benign	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Corin	T	C	5: 72,422,165	E155G	probably benign	Het
Cul9	T	C	17: 46,525,135	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,737,559	E501G	probably damaging	Het
Dennd3	T	A	15: 73,542,732	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,501,656	I2520L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Fgf14	A	C	14: 123,980,389	I234R	probably benign	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gad2	T	G	2: 22,684,988	D472E	probably benign	Het
Garnl3	G	T	2: 32,992,228	H832N	probably benign	Het
Gm13941	T	C	2: 111,104,853	M11V	unknown	Het
Gnptab	T	A	10: 88,433,577	L714*	probably null	Het
Golgb1	C	A	16: 36,898,733	Q334K	probably benign	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
H2-K1	T	G	17: 33,997,329	H281P	probably damaging	Het
Hhip	T	A	8: 79,997,495	M373L	probably benign	Het
Ifi203	C	T	1: 173,933,796	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,357,798	L88S	probably damaging	Het
Kcna3	T	C	3: 107,036,696	Y92H	possibly damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mknk2	C	T	10: 80,667,975	W367*	probably null	Het
Mocos	A	G	18: 24,676,662	K441E	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Neurod4	C	T	10: 130,270,482	V308I	probably benign	Het
Nxf3	C	T	X: 136,073,983	V474I	probably benign	Het
Olfr1037	A	T	2: 86,085,407	Y123*	probably null	Het
Olfr976	A	T	9: 39,956,581	M118K	probably damaging	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Pde5a	T	C	3: 122,803,160	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,137,121	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Proz	A	G	8: 13,073,533	E268G	probably benign	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Sept11	G	T	5: 93,162,167	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,702,272	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,314,443	V570A	probably damaging	Het
Spout1	T	C	2: 30,177,407		probably null	Het
Syne2	T	C	12: 76,048,622	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Thsd1	A	G	8: 22,259,411	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,242,679	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,208,690	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,460,415	H612N	probably damaging	Het
Wnk1	C	T	6: 119,969,354	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het
Zfp335	C	A	2: 164,900,106		probably null	Het
Zmym2	T	A	14: 56,921,499		probably benign	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
R4172:Guf1	UTSW	5	69558229	missense	possibly damaging	0.88
R4513:Guf1	UTSW	5	69561662	missense	probably benign	0.00
R4592:Guf1	UTSW	5	69566443	missense	possibly damaging	0.55
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'- CTGAAATTTCATGGTGTTTGTTCCC -3'
(R):5'- CAAGACTGCTTGCCATATTCAC -3'

Sequencing Primer
(F):5'- ATGGTGTTTGTTCCCTTGCAC -3'
(R):5'- TGACATATCAAGTTGGTGG -3'

Posted On

2015-04-06