Mutagenetix > Incidental Mutation

Incidental Mutation 'R0624:Guf1'

58798

Institutional Source

Beutler Lab

Gene Symbol

Guf1

Ensembl Gene

ENSMUSG00000029208

Gene Name

GUF1 homolog, GTPase

Synonyms

mtEF4

MMRRC Submission

038813-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R0624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69714255-69731995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69715923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 108 (I108T)

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: I121T

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

SMART Domains

Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208
AA Change: I121T

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: I121T

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

SMART Domains

Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: I121T

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: I121T

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

SMART Domains

Protein: ENSMUSP00000144290
Gene: ENSMUSG00000029208
AA Change: I121T

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: I115T

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

SMART Domains

Protein: ENSMUSP00000114707
Gene: ENSMUSG00000029208
AA Change: I115T

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: I121T

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

SMART Domains

Protein: ENSMUSP00000144246
Gene: ENSMUSG00000029208
AA Change: I121T

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: I108T

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

SMART Domains

Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208
AA Change: I108T

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

0.9133

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (88/90)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,446 (GRCm39)	D767V	probably damaging	Het
Add1	T	A	5: 34,763,197 (GRCm39)	N128K	probably damaging	Het
Ado	A	T	10: 67,384,058 (GRCm39)	D182E	probably benign	Het
Anapc4	T	A	5: 53,002,761 (GRCm39)		probably benign	Het
Ano10	A	G	9: 122,088,661 (GRCm39)		probably benign	Het
Apba2	A	G	7: 64,364,263 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,417 (GRCm39)	T1795A	probably benign	Het
Atp4a	A	G	7: 30,418,424 (GRCm39)	N571D	probably benign	Het
Birc6	A	G	17: 74,887,344 (GRCm39)	N891D	probably benign	Het
Bltp2	G	A	11: 78,159,283 (GRCm39)	E494K	probably damaging	Het
Car3	G	T	3: 14,931,864 (GRCm39)	M78I	probably benign	Het
Cc2d2a	A	T	5: 43,887,371 (GRCm39)	H1267L	probably benign	Het
Cdk18	A	G	1: 132,046,610 (GRCm39)	L192P	probably damaging	Het
Cdk9	A	T	2: 32,599,836 (GRCm39)	Y134N	probably damaging	Het
Ceacam5	A	T	7: 17,448,888 (GRCm39)	T85S	probably benign	Het
Cenpe	A	G	3: 134,952,347 (GRCm39)	T1403A	probably benign	Het
Chd8	C	T	14: 52,457,214 (GRCm39)	G918D	possibly damaging	Het
Csnk1e	T	A	15: 79,304,098 (GRCm39)		probably benign	Het
Dctpp1	A	T	7: 126,856,365 (GRCm39)	I119N	probably damaging	Het
Defb34	T	A	8: 19,173,784 (GRCm39)	F6Y	unknown	Het
Dnai4	T	C	4: 102,930,054 (GRCm39)		probably benign	Het
Dvl1	C	G	4: 155,939,232 (GRCm39)	N248K	probably damaging	Het
Dync1h1	T	C	12: 110,618,181 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,211,910 (GRCm39)	D199G	probably damaging	Het
Eml5	T	A	12: 98,831,738 (GRCm39)	R407W	probably damaging	Het
Epb41l5	T	C	1: 119,551,688 (GRCm39)	D99G	probably damaging	Het
Fat1	A	T	8: 45,504,205 (GRCm39)	N4566I	possibly damaging	Het
Gm21834	T	C	17: 58,049,015 (GRCm39)	E67G	possibly damaging	Het
Gsap	T	A	5: 21,458,949 (GRCm39)		probably null	Het
Hsd3b5	T	C	3: 98,526,720 (GRCm39)	D242G	probably damaging	Het
Kcna7	A	G	7: 45,059,114 (GRCm39)	D467G	probably null	Het
Lars1	A	G	18: 42,375,849 (GRCm39)		probably benign	Het
Lrrc56	A	T	7: 140,786,366 (GRCm39)	D248V	probably damaging	Het
Map3k14	T	A	11: 103,133,117 (GRCm39)	E27V	possibly damaging	Het
Med12l	G	A	3: 58,945,123 (GRCm39)	W116*	probably null	Het
Mgll	A	G	6: 88,702,799 (GRCm39)	R33G	probably damaging	Het
Mmp13	A	G	9: 7,280,221 (GRCm39)	S384G	possibly damaging	Het
Nalcn	C	T	14: 123,607,444 (GRCm39)	C675Y	probably benign	Het
Nrxn1	A	G	17: 91,396,117 (GRCm39)	L13P	unknown	Het
Ocstamp	A	G	2: 165,239,772 (GRCm39)	V138A	probably damaging	Het
Or12e8	T	G	2: 87,188,026 (GRCm39)	Y79*	probably null	Het
Or2z8	T	A	8: 72,812,006 (GRCm39)	S161T	possibly damaging	Het
Or4a68	A	G	2: 89,270,482 (GRCm39)	V47A	possibly damaging	Het
Or4f7	T	C	2: 111,645,056 (GRCm39)	N5S	probably damaging	Het
Or5p51	A	G	7: 107,444,323 (GRCm39)	S206P	possibly damaging	Het
Or9i1b	T	G	19: 13,896,808 (GRCm39)	C141W	probably damaging	Het
Patj	T	C	4: 98,569,472 (GRCm39)		probably benign	Het
Pcdhb22	A	G	18: 37,651,780 (GRCm39)	I83V	probably benign	Het
Pclo	A	G	5: 14,719,670 (GRCm39)	E1269G	unknown	Het
Plagl2	T	C	2: 153,077,973 (GRCm39)	T3A	probably benign	Het
Plcb1	C	T	2: 135,136,831 (GRCm39)	P309S	possibly damaging	Het
Pld3	A	T	7: 27,239,000 (GRCm39)	L175Q	possibly damaging	Het
Prrx1	A	G	1: 163,075,974 (GRCm39)		probably benign	Het
Psap	T	G	10: 60,135,345 (GRCm39)		probably benign	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Reep2	A	T	18: 34,973,824 (GRCm39)	I6F	probably benign	Het
Rraga	A	G	4: 86,494,454 (GRCm39)	E100G	probably benign	Het
Rrm2b	T	C	15: 37,931,889 (GRCm39)	D37G	probably benign	Het
Rtl1	T	C	12: 109,559,153 (GRCm39)	I895M	probably damaging	Het
Ryr1	G	A	7: 28,774,034 (GRCm39)	A2445V	probably damaging	Het
Sbf1	C	T	15: 89,186,532 (GRCm39)	D898N	possibly damaging	Het
Sh3d19	G	A	3: 86,022,213 (GRCm39)	V548I	possibly damaging	Het
Shf	C	A	2: 122,199,116 (GRCm39)		probably benign	Het
Sipa1l3	T	C	7: 29,086,676 (GRCm39)	E638G	probably damaging	Het
Slc13a3	G	T	2: 165,253,807 (GRCm39)	P449T	probably damaging	Het
Slc2a13	C	T	15: 91,234,215 (GRCm39)	V374I	possibly damaging	Het
Slc4a7	T	C	14: 14,794,059 (GRCm38)		probably null	Het
Slc7a2	T	A	8: 41,361,568 (GRCm39)	S414T	probably benign	Het
Slc9c1	A	G	16: 45,393,719 (GRCm39)	E554G	probably benign	Het
Smad2	T	C	18: 76,433,064 (GRCm39)	I332T	probably damaging	Het
Snrnp40	C	T	4: 130,256,451 (GRCm39)	P59S	probably damaging	Het
Sorcs2	A	T	5: 36,222,777 (GRCm39)	I154N	probably damaging	Het
Sort1	G	A	3: 108,255,946 (GRCm39)	G631S	probably damaging	Het
Sox10	T	C	15: 79,043,586 (GRCm39)	D149G	possibly damaging	Het
Spn	C	T	7: 126,735,380 (GRCm39)	V376M	possibly damaging	Het
Tacc2	A	G	7: 130,179,239 (GRCm39)	D9G	probably damaging	Het
Tapt1	T	G	5: 44,334,448 (GRCm39)	L514F	possibly damaging	Het
Tcf3	A	G	10: 80,249,168 (GRCm39)	L480P	probably damaging	Het
Tenm4	G	C	7: 96,423,227 (GRCm39)	G637A	probably damaging	Het
Tex14	T	A	11: 87,411,525 (GRCm39)	N950K	probably benign	Het
Tgfbrap1	T	G	1: 43,098,289 (GRCm39)	H497P	probably benign	Het
Tnfrsf18	A	T	4: 156,110,986 (GRCm39)	Y48F	possibly damaging	Het
Tnxb	A	C	17: 34,902,522 (GRCm39)	H1002P	probably damaging	Het
Ttn	A	G	2: 76,593,571 (GRCm39)		probably benign	Het
Ugt2b34	C	G	5: 87,041,591 (GRCm39)		probably null	Het
Vldlr	A	G	19: 27,215,663 (GRCm39)	D220G	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,121 (GRCm39)	Y144*	probably null	Het
Xrcc4	T	C	13: 90,140,594 (GRCm39)	E205G	possibly damaging	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
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
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'- GTGGATCATGGCAAAAGCACTTTAGC -3'
(R):5'- CAGACAGTGACCTGGACACTTCATAAC -3'

Sequencing Primer
(F):5'- CTCCTGGAGCTAACAGGTATTTTATC -3'
(R):5'- GGAACTGCTAGTCTACTGATATGACG -3'

Posted On

2013-07-11