Mutagenetix > Incidental Mutation

Incidental Mutation 'R1386:Guf1'

160576

Institutional Source

Beutler Lab

Gene Symbol

Guf1

Ensembl Gene

ENSMUSG00000029208

Gene Name

GUF1 homolog, GTPase

Synonyms

mtEF4

MMRRC Submission

039448-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R1386 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69714255-69731995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69720505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 309 (H309Y)

Ref Sequence

ENSEMBL: ENSMUSP00000133467 (fasta)

Gene Model

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

AlphaFold

Q8C3X4

Predicted Effect

probably benign
Transcript: ENSMUST00000031113

SMART Domains

Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208

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: H322Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: H322Y

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
AA Change: H309Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208
AA Change: H309Y

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.5%
20x: 87.0%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,135,081 (GRCm39)	I235V	probably benign	Het
Acsm4	T	C	7: 119,297,801 (GRCm39)	I146T	probably benign	Het
Adgrv1	T	C	13: 81,676,984 (GRCm39)	N1949S	probably benign	Het
Afdn	T	C	17: 14,066,798 (GRCm39)	V630A	probably damaging	Het
Amfr	A	G	8: 94,712,027 (GRCm39)	V301A	possibly damaging	Het
Anapc16	T	C	10: 59,832,279 (GRCm39)	M45V	probably benign	Het
Ankrd12	T	C	17: 66,290,375 (GRCm39)	E1686G	possibly damaging	Het
Ap2m1	T	G	16: 20,359,979 (GRCm39)	H193Q	probably damaging	Het
Aplnr	T	C	2: 84,967,805 (GRCm39)	W277R	possibly damaging	Het
Aspm	C	T	1: 139,406,710 (GRCm39)	H1866Y	possibly damaging	Het
Aspm	A	G	1: 139,385,361 (GRCm39)	E335G	probably benign	Het
Atp8b4	T	A	2: 126,220,664 (GRCm39)	D578V	probably benign	Het
Ccr1	T	A	9: 123,763,999 (GRCm39)	E177V	probably benign	Het
Cecr2	A	G	6: 120,739,092 (GRCm39)	E1245G	probably damaging	Het
Cep162	A	T	9: 87,103,255 (GRCm39)	C638S	probably benign	Het
Ces1b	A	T	8: 93,794,705 (GRCm39)	I298N	probably benign	Het
Cfap47	C	T	X: 78,553,507 (GRCm39)	V323I	possibly damaging	Het
Chdh	T	A	14: 29,753,391 (GRCm39)	L100Q	probably damaging	Het
Chrnd	T	C	1: 87,120,312 (GRCm39)	I156T	probably damaging	Het
Clpx	G	A	9: 65,234,170 (GRCm39)	R605Q	probably null	Het
Cnga1	T	A	5: 72,769,526 (GRCm39)	K135*	probably null	Het
Col6a4	A	T	9: 105,940,144 (GRCm39)	V1262E	probably benign	Het
Cracr2b	T	C	7: 141,043,481 (GRCm39)	L53P	probably damaging	Het
Crhr1	T	C	11: 104,065,220 (GRCm39)	S372P	possibly damaging	Het
Cyp11b2	T	A	15: 74,723,624 (GRCm39)		probably null	Het
Cyp21a1	T	A	17: 35,021,184 (GRCm39)	D373V	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Ddah1	A	T	3: 145,594,966 (GRCm39)	Y242F	probably benign	Het
Dlgap3	A	G	4: 127,088,719 (GRCm39)	D105G	possibly damaging	Het
Dtl	A	G	1: 191,301,829 (GRCm39)	V76A	probably damaging	Het
Dzank1	A	G	2: 144,333,751 (GRCm39)	S361P	probably benign	Het
Ehd3	T	A	17: 74,127,538 (GRCm39)	I157N	probably damaging	Het
Elk4	T	C	1: 131,945,568 (GRCm39)	F149L	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fam83a	A	G	15: 57,849,899 (GRCm39)	R148G	probably damaging	Het
Farp2	C	A	1: 93,547,873 (GRCm39)		probably null	Het
Fbxw25	T	A	9: 109,483,709 (GRCm39)	I168F	possibly damaging	Het
Fermt1	T	C	2: 132,757,978 (GRCm39)	D479G	probably damaging	Het
Fgf17	C	A	14: 70,874,210 (GRCm39)	R193L	probably damaging	Het
Foxred2	T	G	15: 77,832,721 (GRCm39)		probably null	Het
Gad1	T	C	2: 70,404,467 (GRCm39)	V119A	possibly damaging	Het
Gas2l3	A	G	10: 89,250,215 (GRCm39)	V301A	possibly damaging	Het
Gimap8	G	A	6: 48,633,587 (GRCm39)	V469I	probably benign	Het
Gja1	A	T	10: 56,264,065 (GRCm39)	E141D	probably benign	Het
Glod4	C	T	11: 76,112,829 (GRCm39)	W268*	probably null	Het
Hax1	A	G	3: 89,903,156 (GRCm39)	V215A	probably damaging	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hephl1	T	A	9: 14,988,050 (GRCm39)	Y686F	probably benign	Het
Hk3	T	C	13: 55,154,843 (GRCm39)		probably null	Het
Ikbkb	G	T	8: 23,155,633 (GRCm39)	Q620K	possibly damaging	Het
Il18rap	C	T	1: 40,570,682 (GRCm39)	A208V	probably benign	Het
Kif26b	T	C	1: 178,743,209 (GRCm39)	S1102P	probably benign	Het
Kif5b	A	T	18: 6,226,383 (GRCm39)	D147E	probably damaging	Het
Klhl3	T	C	13: 58,178,247 (GRCm39)	T348A	probably damaging	Het
Krt10	T	C	11: 99,276,746 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,610,427 (GRCm39)	H1124L	probably benign	Het
Lin7a	A	T	10: 107,247,983 (GRCm39)	Q96L	unknown	Het
Ly6c2	T	G	15: 74,982,438 (GRCm39)	I37L	probably benign	Het
Mov10l1	A	G	15: 88,895,589 (GRCm39)	Y585C	possibly damaging	Het
Msr1	G	A	8: 40,042,334 (GRCm39)	Q414*	probably null	Het
Myh13	T	C	11: 67,261,776 (GRCm39)	C1900R	possibly damaging	Het
Obscn	T	A	11: 59,024,679 (GRCm39)	N454Y	probably damaging	Het
Olfml2b	T	G	1: 170,508,731 (GRCm39)	Y530D	probably damaging	Het
Or1ad1	T	C	11: 50,876,194 (GRCm39)	F222S	probably damaging	Het
Or4c11	T	A	2: 88,695,697 (GRCm39)	F249L	probably benign	Het
Or52s1b	T	A	7: 102,822,574 (GRCm39)	H90L	probably benign	Het
Or5b24	A	T	19: 12,912,503 (GRCm39)	T134S	probably benign	Het
Or7e174	T	A	9: 20,012,878 (GRCm39)	N274K	probably benign	Het
Or8j3b	A	G	2: 86,205,265 (GRCm39)	F164L	probably damaging	Het
Pde10a	T	G	17: 9,172,574 (GRCm39)	V648G	probably damaging	Het
Pde7b	T	A	10: 20,294,547 (GRCm39)	H258L	probably damaging	Het
Pik3cb	A	G	9: 98,946,080 (GRCm39)	V582A	possibly damaging	Het
Plxnb1	T	C	9: 108,930,091 (GRCm39)	S316P	probably benign	Het
Pmpca	C	T	2: 26,282,530 (GRCm39)	T246I	probably damaging	Het
Reep3	A	T	10: 66,898,788 (GRCm39)	V32D	possibly damaging	Het
Rfx4	A	G	10: 84,699,149 (GRCm39)	M252V	probably damaging	Het
Rnf168	C	A	16: 32,117,781 (GRCm39)	D447E	probably damaging	Het
Rnf31	T	C	14: 55,834,221 (GRCm39)	V518A	probably damaging	Het
Rnpc3	A	T	3: 113,407,433 (GRCm39)	L340*	probably null	Het
Scn2a	A	G	2: 65,519,085 (GRCm39)	E437G	probably damaging	Het
Scnn1b	C	A	7: 121,501,711 (GRCm39)	N175K	possibly damaging	Het
Slc39a11	T	A	11: 113,138,550 (GRCm39)	I344F	probably benign	Het
Slc9a2	T	A	1: 40,758,178 (GRCm39)	L239Q	probably damaging	Het
Smg5	T	C	3: 88,262,978 (GRCm39)	F794L	probably damaging	Het
Smim13	C	T	13: 41,426,168 (GRCm39)	S68L	possibly damaging	Het
Sos2	A	T	12: 69,661,432 (GRCm39)	Y680N	probably damaging	Het
Spag6	T	A	2: 18,739,057 (GRCm39)	M329K	possibly damaging	Het
Spire2	G	A	8: 124,088,105 (GRCm39)		probably null	Het
Tdrd9	T	A	12: 112,011,238 (GRCm39)	V1149D	probably benign	Het
Tns3	T	A	11: 8,468,261 (GRCm39)	Y321F	probably benign	Het
Top3b	T	C	16: 16,698,493 (GRCm39)	V112A	probably benign	Het
Trafd1	G	A	5: 121,517,715 (GRCm39)	T26I	probably damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Vmn2r78	T	C	7: 86,564,615 (GRCm39)	L20S	unknown	Het
Vmn2r82	A	T	10: 79,214,545 (GRCm39)	D176V	probably damaging	Het
Vps13b	T	C	15: 35,923,458 (GRCm39)	F3778L	probably damaging	Het
Vwa3b	T	C	1: 37,090,962 (GRCm39)		probably null	Het
Vwc2	C	T	11: 11,104,262 (GRCm39)	P265S	probably damaging	Het
Zbtb9	T	A	17: 27,193,612 (GRCm39)	I339N	probably damaging	Het
Zfp335	T	C	2: 164,740,161 (GRCm39)	T764A	probably benign	Het
Zfp366	T	A	13: 99,383,063 (GRCm39)	V742D	probably damaging	Het
Zfp709	A	T	8: 72,644,506 (GRCm39)	Y645F	probably damaging	Het
Zmym2	T	A	14: 57,150,548 (GRCm39)	C424S	probably 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
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
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'- GAGCTTAGAGGTTGACGATTGGCAT -3'
(R):5'- GCTGCATGGCAGTCTACTTCATTCA -3'

Sequencing Primer
(F):5'- GGCCCTTACTTGTTTGAGAAG -3'
(R):5'- GCAGTCTACTTCATTCAGAGGAAC -3'

Posted On

2014-03-14