Mutagenetix > Incidental Mutation

Incidental Mutation 'R6246:Guf1'

505769

Institutional Source

Beutler Lab

Gene Symbol

Guf1

Ensembl Gene

ENSMUSG00000029208

Gene Name

GUF1 homolog, GTPase

Synonyms

mtEF4

MMRRC Submission

044436-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R6246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69714255-69731995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69715898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 113 (G113R)

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: G113R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208
AA Change: G113R

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: G113R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: G113R

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: G113R

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

SMART Domains

Protein: ENSMUSP00000144290
Gene: ENSMUSG00000029208
AA Change: G113R

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: G107R

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

SMART Domains

Protein: ENSMUSP00000114707
Gene: ENSMUSG00000029208
AA Change: G107R

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: G113R

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

SMART Domains

Protein: ENSMUSP00000144246
Gene: ENSMUSG00000029208
AA Change: G113R

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: G100R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208
AA Change: G100R

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

0.5193

Coding Region Coverage

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

Validation Efficiency

100% (78/78)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,850,999 (GRCm39)	V2110E	probably damaging	Het
Acaca	C	A	11: 84,206,796 (GRCm39)	T1552K	probably benign	Het
Aknad1	A	G	3: 108,659,148 (GRCm39)	D54G	probably damaging	Het
Ano1	T	C	7: 144,187,462 (GRCm39)	T435A	possibly damaging	Het
Azgp1	A	G	5: 137,983,475 (GRCm39)	D50G	possibly damaging	Het
Bbx	A	G	16: 50,045,023 (GRCm39)	S513P	probably benign	Het
Ccdc85a	C	T	11: 28,526,897 (GRCm39)	S209N	probably damaging	Het
Cdca2	T	A	14: 67,915,277 (GRCm39)	R661*	probably null	Het
Cdhr2	T	C	13: 54,867,523 (GRCm39)	V451A	probably damaging	Het
Cenpt	C	T	8: 106,575,891 (GRCm39)	G152S	possibly damaging	Het
Chd9	A	G	8: 91,659,045 (GRCm39)	T2A	probably damaging	Het
Chst14	G	A	2: 118,757,482 (GRCm39)	C117Y	probably damaging	Het
Cic	C	T	7: 24,971,067 (GRCm39)	T266M	probably damaging	Het
Clec12a	A	T	6: 129,330,733 (GRCm39)	N105I	possibly damaging	Het
Cmah	G	A	13: 24,650,773 (GRCm39)	V525M	probably damaging	Het
Cplane1	T	A	15: 8,239,498 (GRCm39)	L1233H	probably damaging	Het
Cpt1a	T	C	19: 3,426,550 (GRCm39)	L572P	probably damaging	Het
Crybg2	T	C	4: 133,816,657 (GRCm39)	L1365P	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlg1	G	A	16: 31,484,468 (GRCm39)	S32N	probably benign	Het
Dnah14	T	C	1: 181,508,453 (GRCm39)	I1877T	probably benign	Het
Duox1	G	T	2: 122,157,655 (GRCm39)	G594C	probably damaging	Het
Eci2	T	C	13: 35,174,181 (GRCm39)	N127D	probably damaging	Het
Ecpas	A	G	4: 58,811,365 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,945,870 (GRCm39)	S1588P	probably damaging	Het
Fer1l4	T	A	2: 155,866,902 (GRCm39)	I1489F	probably damaging	Het
Flrt3	A	G	2: 140,501,721 (GRCm39)	Y636H	probably damaging	Het
Frmd5	T	A	2: 121,381,529 (GRCm39)	H62L	possibly damaging	Het
Gm6309	A	T	5: 146,107,050 (GRCm39)	Y99N	probably damaging	Het
Gm8225	T	C	17: 26,762,652 (GRCm39)	V281A	probably benign	Het
Grep1	C	A	17: 23,929,465 (GRCm39)	G315*	probably null	Het
Grsf1	A	G	5: 88,810,451 (GRCm39)	L353P	possibly damaging	Het
Gtf2a1l	A	G	17: 88,978,975 (GRCm39)	R58G	probably benign	Het
Hfe	A	T	13: 23,892,212 (GRCm39)	F51I	probably damaging	Het
Hibch	T	C	1: 52,943,801 (GRCm39)	S250P	probably damaging	Het
Il1rap	T	A	16: 26,533,631 (GRCm39)	M509K	probably benign	Het
Il4ra	T	C	7: 125,175,577 (GRCm39)	V595A	probably benign	Het
Ints11	A	G	4: 155,972,546 (GRCm39)	T460A	probably benign	Het
Itprid1	A	T	6: 55,944,657 (GRCm39)	K459N	probably damaging	Het
Kdm5a	G	A	6: 120,408,871 (GRCm39)	G1518E	probably damaging	Het
Khsrp	T	C	17: 57,332,324 (GRCm39)	D289G	possibly damaging	Het
Kif14	C	T	1: 136,404,162 (GRCm39)	Q29*	probably null	Het
Krt72	T	C	15: 101,689,372 (GRCm39)	K320R	probably damaging	Het
Lcmt2	A	G	2: 120,970,870 (GRCm39)	L71P	probably damaging	Het
Lmo7	A	T	14: 102,156,136 (GRCm39)	D1037V	probably damaging	Het
Lpo	T	C	11: 87,713,058 (GRCm39)	T15A	unknown	Het
Mia3	G	T	1: 183,126,720 (GRCm39)	T7N	probably damaging	Het
Muc16	A	T	9: 18,488,363 (GRCm39)		probably null	Het
Mup9	T	A	4: 60,375,809 (GRCm39)	Y29F	probably damaging	Het
Nisch	T	C	14: 30,894,516 (GRCm39)	D1105G	probably damaging	Het
Odad1	A	G	7: 45,585,788 (GRCm39)	I116V	probably damaging	Het
Oip5	T	C	2: 119,446,101 (GRCm39)	T136A	probably benign	Het
Or2a52	G	A	6: 43,144,436 (GRCm39)		probably null	Het
Osbpl10	C	A	9: 115,055,842 (GRCm39)	N532K	probably benign	Het
P2ry12	C	T	3: 59,124,950 (GRCm39)	V242I	probably benign	Het
Pdhx	A	T	2: 102,877,137 (GRCm39)	C26S	probably damaging	Het
Pgk2	A	T	17: 40,518,315 (GRCm39)	I371K	probably damaging	Het
Phyhip	T	C	14: 70,704,495 (GRCm39)	V238A	probably damaging	Het
Pla2g4a	G	A	1: 149,748,338 (GRCm39)	T282I	probably damaging	Het
Pld5	A	T	1: 175,791,475 (GRCm39)	C448*	probably null	Het
Plk1	T	A	7: 121,768,659 (GRCm39)	I553N	probably damaging	Het
Ppp1r13l	T	A	7: 19,103,783 (GRCm39)	I88K	probably benign	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Septin7	A	G	9: 25,218,817 (GRCm39)	E428G	probably benign	Het
Serpina3j	G	A	12: 104,283,706 (GRCm39)	G268D	probably damaging	Het
Smc2	A	T	4: 52,460,289 (GRCm39)	D555V	probably damaging	Het
Spag16	A	T	1: 69,962,980 (GRCm39)	I376F	probably benign	Het
Spag6	G	A	2: 18,703,906 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,289,204 (GRCm39)	I454V	probably benign	Het
Tlcd3b	T	A	7: 126,426,668 (GRCm39)	F30L	probably damaging	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Traf5	C	T	1: 191,754,853 (GRCm39)	E28K	probably damaging	Het
Trav23	G	A	14: 54,214,885 (GRCm39)	E33K	probably damaging	Het
Trim32	T	C	4: 65,532,801 (GRCm39)	S453P	probably damaging	Het
Tssk1	A	G	16: 17,713,303 (GRCm39)	T363A	probably benign	Het
Txnrd3	A	G	6: 89,628,523 (GRCm39)	N88S	probably benign	Het
Unc13b	A	G	4: 43,216,246 (GRCm39)	S182G	probably benign	Het
Vmn2r89	A	T	14: 51,693,503 (GRCm39)	R284S	probably damaging	Het
Zbtb14	A	G	17: 69,694,478 (GRCm39)	T59A	possibly damaging	Het
Zcchc2	T	A	1: 105,957,796 (GRCm39)	S756T	possibly damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		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
R6181:Guf1	UTSW	5	69,719,059 (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'- ACCGCAATATCTTACCTTTAGGC -3'
(R):5'- GAACTGCTAGTCTACTGATATGACG -3'

Sequencing Primer
(F):5'- CTAGGAACAATTGATAAGACG -3'
(R):5'- GTGATTTTTGTGAAAACAATGGAAAC -3'

Posted On

2018-02-28