Mutagenetix > Incidental Mutation

Incidental Mutation 'R0219:Guf1'

33717

Institutional Source

Beutler Lab

Gene Symbol

Guf1

Ensembl Gene

ENSMUSG00000029208

Gene Name

GUF1 homolog, GTPase

Synonyms

MMRRC Submission

038468-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R0219 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

69556923-69575973 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69559586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 164 (A164T)

Ref Sequence

ENSEMBL: ENSMUSP00000084480 (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: A164T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208
AA Change: A164T

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: A164T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: A164T

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: A164T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144290
Gene: ENSMUSG00000029208
AA Change: A164T

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: A158T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114707
Gene: ENSMUSG00000029208
AA Change: A158T

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: A164T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144246
Gene: ENSMUSG00000029208
AA Change: A164T

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: A151T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208
AA Change: A151T

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

0.5150

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.3%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,886,150		probably benign	Het
Acacb	T	A	5: 114,232,944	M1749K	possibly damaging	Het
Aff1	GCTCTCTCTC	GCTCTCTCTCTC	5: 103,811,040		probably benign	Het
Ankle2	C	T	5: 110,251,645	R624*	probably null	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Brca2	A	G	5: 150,523,175		probably benign	Het
Ccdc116	T	A	16: 17,141,612	R404S	possibly damaging	Het
Ccdc171	A	G	4: 83,696,441		probably benign	Het
Ccdc80	A	G	16: 45,096,483	K534R	probably damaging	Het
Ccna1	T	C	3: 55,050,927	I112V	probably benign	Het
Cdhr1	A	C	14: 37,079,601	L795R	possibly damaging	Het
Cilp	C	A	9: 65,269,590	L43I	possibly damaging	Het
Dclk2	T	C	3: 86,813,669		probably benign	Het
Ddx59	C	A	1: 136,432,309		probably benign	Het
Dgkd	T	C	1: 87,938,274		probably benign	Het
Dicer1	A	G	12: 104,692,125		probably null	Het
Dst	T	G	1: 34,303,478	S5030A	probably damaging	Het
Dysf	G	A	6: 84,129,461		probably benign	Het
Farp1	C	A	14: 121,243,600	P471Q	possibly damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fcer1g	A	G	1: 171,231,226	V31A	possibly damaging	Het
Glb1l2	A	G	9: 26,806,322	V21A	probably benign	Het
Gm9912	T	C	3: 149,185,495	I1V	unknown	Het
Hbb-bs	T	C	7: 103,826,669	H147R	possibly damaging	Het
Hnrnpr	T	A	4: 136,339,163		probably benign	Het
Iglon5	A	T	7: 43,476,837	V214E	probably damaging	Het
Isx	C	A	8: 74,889,961		probably null	Het
Kank4	T	C	4: 98,778,465	N582D	probably benign	Het
Kcp	T	A	6: 29,495,785	R773W	probably damaging	Het
Kdm4c	T	C	4: 74,373,620	C825R	probably damaging	Het
Krt25	G	A	11: 99,318,059	T315M	probably benign	Het
Lrp5	A	T	19: 3,597,349	S1298T	probably damaging	Het
Map3k10	T	C	7: 27,656,731	D921G	probably damaging	Het
Mrgprx1	C	A	7: 48,021,546	W151L	probably damaging	Het
Mylk3	T	A	8: 85,355,244	D375V	probably damaging	Het
Nav3	C	T	10: 109,866,930		probably null	Het
Ncan	A	G	8: 70,115,334	S43P	probably benign	Het
Necab3	G	T	2: 154,546,093	Q292K	probably benign	Het
Nptx2	T	C	5: 144,548,140	S148P	probably damaging	Het
Olfr414	G	A	1: 174,430,466	V13I	probably benign	Het
Olfr520	A	T	7: 99,735,928	I262L	probably benign	Het
Pde6a	A	G	18: 61,285,935	E794G	possibly damaging	Het
Pus7	T	C	5: 23,775,966	Y133C	possibly damaging	Het
Rad21l	A	G	2: 151,654,588		probably benign	Het
Rptor	A	T	11: 119,821,777		probably benign	Het
Sart1	C	A	19: 5,388,396	A78S	probably benign	Het
Shkbp1	T	C	7: 27,352,061	E191G	probably benign	Het
Slc6a18	A	T	13: 73,674,632		probably null	Het
Stxbp5	T	C	10: 9,770,528	T147A	probably benign	Het
Sv2b	A	G	7: 75,157,267		probably null	Het
Syne2	A	T	12: 76,042,004	K5045N	probably damaging	Het
Tmem174	A	C	13: 98,636,839	M161R	possibly damaging	Het
Tmprss7	A	G	16: 45,656,457	V814A	probably damaging	Het
Togaram2	T	C	17: 71,714,230		probably benign	Het
Tpr	T	C	1: 150,443,258		probably null	Het
Ttn	T	C	2: 76,900,228		probably benign	Het
Ubr4	T	A	4: 139,430,257	L2375Q	possibly damaging	Het
Utp20	T	C	10: 88,764,675	E1987G	probably damaging	Het
Utrn	T	C	10: 12,684,451	T1365A	probably damaging	Het
Vmn2r116	T	A	17: 23,386,098	Y128*	probably null	Het
Vmn2r5	A	G	3: 64,504,313	V278A	probably damaging	Het
Vps13d	C	T	4: 145,105,909	S2809N	probably benign	Het
Zfp212	G	A	6: 47,926,685	R68H	probably damaging	Het
Zfp442	A	T	2: 150,411,240	L33Q	probably damaging	Het
Zfp629	T	C	7: 127,612,083	S185G	probably damaging	Het
Zfp738	A	G	13: 67,683,389		probably benign	Het

Other mutations in Guf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01580:Guf1	APN	5	69565421	splice site	probably benign
IGL01739:Guf1	APN	5	69561158	missense	probably damaging	1.00
IGL03110:Guf1	APN	5	69558477	missense	probably damaging	1.00
R0054:Guf1	UTSW	5	69559561	synonymous	silent
R0269:Guf1	UTSW	5	69559599	missense	probably damaging	0.99
R0624:Guf1	UTSW	5	69558580	missense	probably damaging	1.00
R0690:Guf1	UTSW	5	69566352	splice site	probably null
R0906:Guf1	UTSW	5	69566386	missense	probably damaging	0.99
R1082:Guf1	UTSW	5	69567212	missense	possibly damaging	0.95
R1386:Guf1	UTSW	5	69563162	missense	probably benign
R1506:Guf1	UTSW	5	69567166	missense	possibly damaging	0.85
R1859:Guf1	UTSW	5	69568460	nonsense	probably null
R1982:Guf1	UTSW	5	69567226	nonsense	probably null
R3782:Guf1	UTSW	5	69567152	missense	probably benign	0.01
R3847:Guf1	UTSW	5	69561157	missense	probably damaging	0.99
R4172:Guf1	UTSW	5	69558229	missense	possibly damaging	0.88
R4513:Guf1	UTSW	5	69561662	missense	probably benign	0.00
R4592:Guf1	UTSW	5	69566443	missense	possibly damaging	0.55
R4811:Guf1	UTSW	5	69564509	splice site	probably null
R5435:Guf1	UTSW	5	69563169	missense	probably benign	0.01
R5792:Guf1	UTSW	5	69560486	missense	probably damaging	1.00
R6181:Guf1	UTSW	5	69561716	missense	probably damaging	1.00
R6246:Guf1	UTSW	5	69558555	missense	probably damaging	1.00
R6411:Guf1	UTSW	5	69560511	missense	possibly damaging	0.87
R6701:Guf1	UTSW	5	69558253	missense	probably damaging	1.00
R6724:Guf1	UTSW	5	69566393	missense	probably damaging	0.99
R7634:Guf1	UTSW	5	69564544	missense	probably damaging	0.97
R7923:Guf1	UTSW	5	69561159	missense	probably benign	0.01
R8202:Guf1	UTSW	5	69563202	missense	possibly damaging	0.95
R8387:Guf1	UTSW	5	69566467	missense	probably damaging	1.00
R9567:Guf1	UTSW	5	69564608	missense	possibly damaging	0.93
R9734:Guf1	UTSW	5	69569262	nonsense	probably null
X0018:Guf1	UTSW	5	69566366	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGGCAGGTACATGACATATGGTG -3'
(R):5'- CTATTCTCAGCCCATGCAGTCCAG -3'

Sequencing Primer
(F):5'- TGGTGTCATTTTATTAGCATGATCC -3'
(R):5'- TGCAAGGAATATTTGACCTGC -3'

Posted On

2013-05-09