Mutagenetix > Incidental Mutation

Incidental Mutation 'R6181:Guf1'

488073

Institutional Source

Beutler Lab

Gene Symbol

Guf1

Ensembl Gene

ENSMUSG00000029208

Gene Name

GUF1 homolog, GTPase

Synonyms

mtEF4

MMRRC Submission

044323-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R6181 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69714255-69731995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69719059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 235 (Y235C)

Ref Sequence

ENSEMBL: ENSMUSP00000133467 (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: Y248C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208
AA Change: Y248C

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: Y248C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: Y248C

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: Y248C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144290
Gene: ENSMUSG00000029208
AA Change: Y248C

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: Y242C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114707
Gene: ENSMUSG00000029208
AA Change: Y242C

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: Y248C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144246
Gene: ENSMUSG00000029208
AA Change: Y248C

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: ENSMUST00000173205
AA Change: Y235C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208
AA Change: Y235C

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b7	A	G	6: 34,392,313 (GRCm39)	H42R	possibly damaging	Het
Ankrd26	T	A	6: 118,525,838 (GRCm39)	H369L	probably benign	Het
Ano7	T	C	1: 93,323,081 (GRCm39)	S474P	probably damaging	Het
Aox3	T	C	1: 58,198,105 (GRCm39)	V639A	probably benign	Het
Arhgef2	T	A	3: 88,542,927 (GRCm39)	V358E	probably damaging	Het
Brpf3	A	G	17: 29,029,555 (GRCm39)	Y505C	probably damaging	Het
Casd1	A	G	6: 4,619,331 (GRCm39)	T120A	probably damaging	Het
Ccdc121	A	G	5: 31,645,399 (GRCm39)	E384G	probably damaging	Het
Cd200l1	A	G	16: 45,238,260 (GRCm39)	S185P	probably benign	Het
Clasp1	T	G	1: 118,347,547 (GRCm39)	S32A	probably benign	Het
Clca3a2	A	T	3: 144,796,469 (GRCm39)	L246*	probably null	Het
Clcn7	A	G	17: 25,370,702 (GRCm39)	I353V	possibly damaging	Het
Cluap1	T	A	16: 3,751,608 (GRCm39)	D322E	probably benign	Het
Cmtm4	A	C	8: 105,082,997 (GRCm39)		probably null	Het
Cntnap2	C	T	6: 46,736,742 (GRCm39)	P723S	probably damaging	Het
Col6a3	T	A	1: 90,744,096 (GRCm39)	T84S	possibly damaging	Het
Corin	A	G	5: 72,529,439 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,354,687 (GRCm39)	T1903I	probably benign	Het
Cyp27b1	A	C	10: 126,886,279 (GRCm39)	D320A	probably damaging	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dennd2a	T	C	6: 39,462,554 (GRCm39)	K652R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,760,251 (GRCm39)	M1638K	probably damaging	Het
Efcab3	T	C	11: 104,722,159 (GRCm39)	S1924P	probably benign	Het
Eya1	T	C	1: 14,373,096 (GRCm39)	S8G	probably damaging	Het
Fam193a	T	A	5: 34,600,884 (GRCm39)		probably null	Het
Fbxw11	T	A	11: 32,692,575 (GRCm39)	N515K	probably benign	Het
Gm6408	T	C	5: 146,420,582 (GRCm39)	V154A	possibly damaging	Het
Hnrnpul2	C	T	19: 8,800,596 (GRCm39)	S224L	possibly damaging	Het
Igkv8-19	T	A	6: 70,317,968 (GRCm39)	D86V	probably damaging	Het
Iqcf1	A	T	9: 106,379,174 (GRCm39)	D61V	probably damaging	Het
Lrp5	T	C	19: 3,678,427 (GRCm39)	D476G	probably damaging	Het
Luzp1	A	G	4: 136,270,578 (GRCm39)	T934A	probably benign	Het
Mboat7	A	T	7: 3,686,884 (GRCm39)	Y319N	probably benign	Het
Mdn1	A	G	4: 32,715,953 (GRCm39)	E2045G	probably damaging	Het
Mfsd14b	T	C	13: 65,260,398 (GRCm39)	R12G	probably benign	Het
Micall2	T	A	5: 139,702,506 (GRCm39)	T246S	probably benign	Het
Npepps	A	G	11: 97,132,830 (GRCm39)	V299A	probably damaging	Het
Or2y11	T	A	11: 49,443,120 (GRCm39)	V182D	probably damaging	Het
P2ry13	A	G	3: 59,117,328 (GRCm39)	V150A	probably benign	Het
Pdc	T	C	1: 150,209,021 (GRCm39)	I168T	probably damaging	Het
Pde8b	C	T	13: 95,223,316 (GRCm39)	E313K	probably benign	Het
Pgap1	C	T	1: 54,551,936 (GRCm39)	G499R	probably benign	Het
Ppp1r15b	T	A	1: 133,060,261 (GRCm39)	C259*	probably null	Het
Pramel21	T	A	4: 143,342,828 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,141,131 (GRCm39)	E526G	probably damaging	Het
Ptpn21	A	G	12: 98,666,258 (GRCm39)	L271P	probably damaging	Het
Rbm47	T	C	5: 66,183,833 (GRCm39)	T257A	possibly damaging	Het
Rfc3	C	T	5: 151,570,985 (GRCm39)	D104N	probably damaging	Het
Rhobtb3	A	G	13: 76,058,808 (GRCm39)	I330T	probably benign	Het
Rnf207	T	C	4: 152,393,305 (GRCm39)	T570A	probably benign	Het
Rusf1	A	G	7: 127,896,632 (GRCm39)		probably null	Het
Sbpl	T	C	17: 24,172,466 (GRCm39)	H151R	probably damaging	Het
Sstr3	T	C	15: 78,423,661 (GRCm39)	D362G	probably benign	Het
St7	T	C	6: 17,694,363 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,194,235 (GRCm39)	M1145K	probably benign	Het
Tdrd6	A	G	17: 43,939,788 (GRCm39)	V420A	probably damaging	Het
Tet2	C	A	3: 133,193,520 (GRCm39)	E305*	probably null	Het
Tmem209	A	T	6: 30,505,970 (GRCm39)	V68E	probably damaging	Het
Tmod4	A	T	3: 95,035,118 (GRCm39)	I208F	probably damaging	Het
Tpo	G	A	12: 30,181,884 (GRCm39)	L4F	probably benign	Het
Urb1	T	C	16: 90,575,982 (GRCm39)	H858R	probably benign	Het
Utrn	A	G	10: 12,615,200 (GRCm39)	W324R	probably damaging	Het
V1rd19	T	A	7: 23,702,640 (GRCm39)	F35L	possibly damaging	Het
Vmn1r170	C	A	7: 23,305,692 (GRCm39)	N31K	probably damaging	Het
Vmn1r192	T	A	13: 22,371,452 (GRCm39)	Y256F	probably damaging	Het
Vmn2r124	T	C	17: 18,294,019 (GRCm39)	I702T	possibly damaging	Het
Vmn2r96	G	A	17: 18,804,126 (GRCm39)	A459T	probably benign	Het
Vwf	G	T	6: 125,543,109 (GRCm39)	A132S	probably damaging	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp608	A	G	18: 55,028,700 (GRCm39)	S1238P	possibly damaging	Het
Zfp804a	G	T	2: 82,087,486 (GRCm39)	M438I	probably damaging	Het
Zgrf1	G	A	3: 127,381,590 (GRCm39)	G246S	probably damaging	Het
Zwint	T	C	10: 72,492,431 (GRCm39)	V115A	probably benign	Het

Other mutations in Guf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01580:Guf1	APN	5	69,722,764 (GRCm39)	splice site	probably benign
IGL01739:Guf1	APN	5	69,718,501 (GRCm39)	missense	probably damaging	1.00
IGL03110:Guf1	APN	5	69,715,820 (GRCm39)	missense	probably damaging	1.00
R0054:Guf1	UTSW	5	69,716,904 (GRCm39)	synonymous	silent
R0219:Guf1	UTSW	5	69,716,929 (GRCm39)	missense	probably damaging	1.00
R0269:Guf1	UTSW	5	69,716,942 (GRCm39)	missense	probably damaging	0.99
R0624:Guf1	UTSW	5	69,715,923 (GRCm39)	missense	probably damaging	1.00
R0690:Guf1	UTSW	5	69,723,695 (GRCm39)	splice site	probably null
R0906:Guf1	UTSW	5	69,723,729 (GRCm39)	missense	probably damaging	0.99
R1082:Guf1	UTSW	5	69,724,555 (GRCm39)	missense	possibly damaging	0.95
R1386:Guf1	UTSW	5	69,720,505 (GRCm39)	missense	probably benign
R1506:Guf1	UTSW	5	69,724,509 (GRCm39)	missense	possibly damaging	0.85
R1859:Guf1	UTSW	5	69,725,803 (GRCm39)	nonsense	probably null
R1982:Guf1	UTSW	5	69,724,569 (GRCm39)	nonsense	probably null
R3782:Guf1	UTSW	5	69,724,495 (GRCm39)	missense	probably benign	0.01
R3847:Guf1	UTSW	5	69,718,500 (GRCm39)	missense	probably damaging	0.99
R4172:Guf1	UTSW	5	69,715,572 (GRCm39)	missense	possibly damaging	0.88
R4513:Guf1	UTSW	5	69,719,005 (GRCm39)	missense	probably benign	0.00
R4592:Guf1	UTSW	5	69,723,786 (GRCm39)	missense	possibly damaging	0.55
R4811:Guf1	UTSW	5	69,721,852 (GRCm39)	splice site	probably null
R5435:Guf1	UTSW	5	69,720,512 (GRCm39)	missense	probably benign	0.01
R5792:Guf1	UTSW	5	69,717,829 (GRCm39)	missense	probably damaging	1.00
R6246:Guf1	UTSW	5	69,715,898 (GRCm39)	missense	probably damaging	1.00
R6411:Guf1	UTSW	5	69,717,854 (GRCm39)	missense	possibly damaging	0.87
R6701:Guf1	UTSW	5	69,715,596 (GRCm39)	missense	probably damaging	1.00
R6724:Guf1	UTSW	5	69,723,736 (GRCm39)	missense	probably damaging	0.99
R7634:Guf1	UTSW	5	69,721,887 (GRCm39)	missense	probably damaging	0.97
R7923:Guf1	UTSW	5	69,718,502 (GRCm39)	missense	probably benign	0.01
R8202:Guf1	UTSW	5	69,720,545 (GRCm39)	missense	possibly damaging	0.95
R8387:Guf1	UTSW	5	69,723,810 (GRCm39)	missense	probably damaging	1.00
R9567:Guf1	UTSW	5	69,721,951 (GRCm39)	missense	possibly damaging	0.93
R9734:Guf1	UTSW	5	69,726,605 (GRCm39)	nonsense	probably null
X0018:Guf1	UTSW	5	69,723,709 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGGGGCTGAAGTACACTGG -3'
(R):5'- CATTTAACAGGACCAAGCCTATACTAG -3'

Sequencing Primer
(F):5'- GCTGAAGTACACTGGCATTTG -3'
(R):5'- TGATCATTCTGAACACATTGAGAG -3'

Posted On

2017-10-10