Mutagenetix > Incidental Mutation

Incidental Mutation 'R5435:Guf1'

428252

Institutional Source

Beutler Lab

Gene Symbol

Guf1

Ensembl Gene

ENSMUSG00000029208

Gene Name

GUF1 homolog, GTPase

Synonyms

mtEF4

MMRRC Submission

043000-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69714255-69731995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69720512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 324 (H324L)

Ref Sequence

ENSEMBL: ENSMUSP00000084480 (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: H324L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: H324L

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: H311L

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

SMART Domains

Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208
AA Change: H311L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,413 (GRCm39)	F851L	probably benign	Het
Abca17	C	T	17: 24,486,588 (GRCm39)	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,523,153 (GRCm39)	Y491*	probably null	Het
Acsf3	T	A	8: 123,507,020 (GRCm39)	N104K	probably damaging	Het
Adam23	T	C	1: 63,585,612 (GRCm39)	Y400H	possibly damaging	Het
Adgra3	G	A	5: 50,147,468 (GRCm39)	T524M	probably damaging	Het
Aff1	G	A	5: 103,902,198 (GRCm39)		probably benign	Het
Anxa9	T	C	3: 95,204,561 (GRCm39)	Y321C	probably damaging	Het
Ap1g1	T	A	8: 110,565,552 (GRCm39)	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,741,783 (GRCm39)	I33N	possibly damaging	Het
B3galnt2	A	G	13: 14,171,575 (GRCm39)	E491G	probably benign	Het
Bdh1	C	T	16: 31,275,475 (GRCm39)	R235C	probably damaging	Het
Ccar2	A	G	14: 70,376,776 (GRCm39)	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519 (GRCm39)	D30V	probably damaging	Het
Ccdc116	G	T	16: 16,960,626 (GRCm39)	H64N	probably benign	Het
Ccl12	T	C	11: 81,994,001 (GRCm39)	I86T	possibly damaging	Het
Col2a1	T	C	15: 97,898,391 (GRCm39)		probably benign	Het
Col4a4	T	A	1: 82,431,728 (GRCm39)	I1519F	unknown	Het
Ddx19b	T	C	8: 111,735,458 (GRCm39)	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,037,121 (GRCm39)	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,463,807 (GRCm39)	I119F	probably damaging	Het
Ensa	C	A	3: 95,529,769 (GRCm39)		probably benign	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxf1	G	A	8: 121,811,231 (GRCm39)	G32S	probably damaging	Het
Gls2	G	A	10: 128,030,995 (GRCm39)		probably benign	Het
Gm13599	T	A	2: 67,226,496 (GRCm39)		noncoding transcript	Het
Gmnn	A	G	13: 24,936,084 (GRCm39)	S197P	probably benign	Het
H2-Q6	A	G	17: 35,644,661 (GRCm39)	D150G	probably damaging	Het
Herc3	T	A	6: 58,832,791 (GRCm39)	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,797,682 (GRCm39)	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,561,283 (GRCm39)	F46L	probably benign	Het
Kank1	T	G	19: 25,388,507 (GRCm39)	S727A	probably benign	Het
Kcnma1	A	T	14: 23,578,472 (GRCm39)	Y201*	probably null	Het
Lyst	A	T	13: 13,951,649 (GRCm39)	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,615,447 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,201,724 (GRCm39)		probably benign	Het
Myh9	C	T	15: 77,653,809 (GRCm39)	V1280I	probably benign	Het
Neto1	A	T	18: 86,416,388 (GRCm39)	T32S	probably benign	Het
Nol7	C	A	13: 43,554,848 (GRCm39)	H187Q	possibly damaging	Het
Or5ak22	T	A	2: 85,230,814 (GRCm39)	N21I	probably benign	Het
Pcdha8	A	G	18: 37,126,652 (GRCm39)	D378G	probably damaging	Het
Peak1	A	G	9: 56,113,770 (GRCm39)	S694P	probably damaging	Het
Pih1d1	T	A	7: 44,805,696 (GRCm39)		probably null	Het
Pik3c2g	T	G	6: 139,661,581 (GRCm39)		probably null	Het
Prkar2a	A	G	9: 108,617,682 (GRCm39)	R247G	probably damaging	Het
Psg26	A	G	7: 18,212,398 (GRCm39)	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,681,811 (GRCm39)	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,422,013 (GRCm39)	H304Q	probably damaging	Het
Relch	T	A	1: 105,668,975 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,103,878 (GRCm39)	E1783V	probably damaging	Het
Stag1	A	G	9: 100,835,603 (GRCm39)	N151S	probably benign	Het
Tbc1d32	C	A	10: 55,916,246 (GRCm39)	A1191S	probably damaging	Het
Tchh	C	A	3: 93,350,979 (GRCm39)	R140S	possibly damaging	Het
Trank1	A	G	9: 111,220,958 (GRCm39)	Y2565C	probably benign	Het
Ttn	A	T	2: 76,744,702 (GRCm39)	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,575,985 (GRCm39)	P893S	possibly damaging	Het
Wdfy4	A	G	14: 32,742,268 (GRCm39)	F2325S	probably damaging	Het
Wdr35	A	G	12: 9,039,951 (GRCm39)	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Ypel3	A	G	7: 126,374,960 (GRCm39)		probably benign	Het
Zan	T	A	5: 137,402,024 (GRCm39)	T4023S	unknown	Het
Zfp735	T	A	11: 73,602,939 (GRCm39)	C628S	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
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
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'- AGAGGTTGACGATTGGCATG -3'
(R):5'- GTTGGTAAAGGCTGCATGGC -3'

Sequencing Primer
(F):5'- GCATGGGGCCCTTACTTG -3'
(R):5'- GGCAGTCTACTTCATTCAGAGGAAC -3'

Posted On

2016-09-01