Mutagenetix > Incidental Mutation

Incidental Mutation 'R4705:Gtpbp3'

355126

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp3

Ensembl Gene

ENSMUSG00000007610

Gene Name

GTP binding protein 3

Synonyms

2410009F13Rik, Gtpbp3

MMRRC Submission

041953-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R4705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71940747-71952227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71943758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 214 (E214K)

Ref Sequence

ENSEMBL: ENSMUSP00000092892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007754] [ENSMUST00000095259] [ENSMUST00000127741] [ENSMUST00000150969] [ENSMUST00000168847]

AlphaFold

Q923K4

Predicted Effect

probably benign
Transcript: ENSMUST00000007754
AA Change: R238Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
AA Change: R238Q

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TrmE_N	35	152	1.8e-36	PFAM
Pfam:FeoB_N	250	390	3.9e-6	PFAM
Pfam:MMR_HSR1	251	375	1.6e-18	PFAM
Pfam:GTPase_Cys_C	421	489	9.9e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095259
AA Change: E214K

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610
AA Change: E214K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TrmE_N	35	152	4.1e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124349

Predicted Effect

probably benign
Transcript: ENSMUST00000127741

SMART Domains

Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TrmE_N	35	152	2.2e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146551

Predicted Effect

probably benign
Transcript: ENSMUST00000150969
AA Change: R238Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
AA Change: R238Q

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TrmE_N	35	152	1.8e-36	PFAM
Pfam:FeoB_N	250	390	3.9e-6	PFAM
Pfam:MMR_HSR1	251	375	1.6e-18	PFAM
Pfam:GTPase_Cys_C	421	489	9.9e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168847
AA Change: R239Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
AA Change: R239Q

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TrmE_N	35	153	3e-35	PFAM
Pfam:MnmE_helical	156	490	2e-48	PFAM
Pfam:FeoB_N	251	390	1.5e-7	PFAM
Pfam:MMR_HSR1	252	376	1.5e-20	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

96% (113/118)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,369 (GRCm39)	V230A	possibly damaging	Het
2010315B03Rik	T	C	9: 124,056,631 (GRCm39)	T123A	possibly damaging	Het
Abca4	T	C	3: 121,899,019 (GRCm39)	V667A	probably damaging	Het
Abcb5	A	G	12: 118,929,040 (GRCm39)	S4P	possibly damaging	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Ahnak	C	A	19: 8,994,270 (GRCm39)	H5185N	probably benign	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
Atf7ip	C	T	6: 136,538,192 (GRCm39)	P483L	probably damaging	Het
Atp11a	C	G	8: 12,863,118 (GRCm39)	P99R	probably damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
Bag6	C	A	17: 35,361,319 (GRCm39)	P476H	probably damaging	Het
Bltp1	C	T	3: 37,096,038 (GRCm39)	T1108I	probably benign	Het
C2cd3	A	G	7: 100,044,395 (GRCm39)	K326E	possibly damaging	Het
Casp1	A	G	9: 5,306,204 (GRCm39)	D363G	probably damaging	Het
Ccdc33	G	T	9: 58,024,840 (GRCm39)	Q129K	probably benign	Het
Ccdc88a	T	C	11: 29,372,586 (GRCm39)	I107T	probably benign	Het
Cela2a	T	C	4: 141,548,722 (GRCm39)	N138S	probably benign	Het
Cfap61	A	C	2: 145,877,122 (GRCm39)	R460S	probably damaging	Het
Clstn2	T	C	9: 97,345,612 (GRCm39)	N579D	possibly damaging	Het
Col13a1	C	A	10: 61,685,944 (GRCm39)	G683W	unknown	Het
Col4a2	G	A	8: 11,363,504 (GRCm39)	R14Q	possibly damaging	Het
Cpa6	A	G	1: 10,551,283 (GRCm39)	S164P	probably benign	Het
Cpq	A	G	15: 33,497,484 (GRCm39)	N408S	probably benign	Het
Ctnnal1	T	C	4: 56,812,579 (GRCm39)	T690A	probably benign	Het
Cx3cl1	A	T	8: 95,506,835 (GRCm39)	N280I	probably benign	Het
Cyp2b19	C	T	7: 26,456,717 (GRCm39)	R36C	probably benign	Het
Ddx51	T	C	5: 110,803,174 (GRCm39)	V269A	probably damaging	Het
Dipk2a	T	C	9: 94,402,688 (GRCm39)	N325D	possibly damaging	Het
Dlst	G	T	12: 85,165,616 (GRCm39)		probably null	Het
Dmkn	G	C	7: 30,463,406 (GRCm39)	A20P	probably damaging	Het
Dnhd1	T	C	7: 105,304,948 (GRCm39)	I330T	probably damaging	Het
Dock3	G	A	9: 106,902,535 (GRCm39)	H292Y	probably damaging	Het
Ell	A	G	8: 71,031,584 (GRCm39)	D94G	possibly damaging	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Fam3d	T	C	14: 8,349,347 (GRCm38)	E201G	probably benign	Het
Fcgbp	A	G	7: 27,806,721 (GRCm39)	K2230E	probably benign	Het
Frmd5	G	T	2: 121,393,344 (GRCm39)		probably benign	Het
Gas2l1	G	A	11: 5,010,867 (GRCm39)	S654L	possibly damaging	Het
Gltpd2	G	T	11: 70,410,966 (GRCm39)	E86*	probably null	Het
Glyat	T	C	19: 12,628,661 (GRCm39)	L152P	possibly damaging	Het
Gm17330	T	C	12: 24,018,783 (GRCm39)	T22A	probably damaging	Het
Gm9931	T	A	1: 147,157,591 (GRCm39)		noncoding transcript	Het
Gpatch1	A	T	7: 34,998,730 (GRCm39)		probably null	Het
Gpr4	T	C	7: 18,956,819 (GRCm39)	L247P	probably damaging	Het
Hdac7	G	T	15: 97,709,468 (GRCm39)	Q21K	probably damaging	Het
Hivep3	A	G	4: 119,729,247 (GRCm39)		probably benign	Het
Hk2	C	T	6: 82,716,631 (GRCm39)	M300I	possibly damaging	Het
Ighv1-61	T	C	12: 115,322,899 (GRCm39)	Y71C	probably damaging	Het
Il36b	T	C	2: 24,044,630 (GRCm39)	V10A	probably benign	Het
Inpp5f	G	T	7: 128,265,711 (GRCm39)	S152I	probably damaging	Het
Jag1	C	A	2: 136,938,229 (GRCm39)	W257L	probably damaging	Het
Jak2	T	A	19: 29,272,315 (GRCm39)	N612K	possibly damaging	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kbtbd6	A	G	14: 79,690,046 (GRCm39)	D247G	probably benign	Het
Kif15	A	G	9: 122,789,058 (GRCm39)		probably null	Het
Kndc1	A	G	7: 139,510,036 (GRCm39)	T1293A	possibly damaging	Het
Lpar5	T	C	6: 125,059,170 (GRCm39)	I297T	possibly damaging	Het
Lpin2	T	A	17: 71,539,138 (GRCm39)		probably benign	Het
Lypd10	T	A	7: 24,412,934 (GRCm39)	L114Q	probably damaging	Het
Mfsd4a	A	T	1: 131,981,309 (GRCm39)	L230Q	probably damaging	Het
Mmp8	T	C	9: 7,565,550 (GRCm39)	V313A	probably benign	Het
Mrpl19	A	T	6: 81,941,266 (GRCm39)	D98E	probably damaging	Het
Mybl1	A	G	1: 9,760,340 (GRCm39)	I86T	probably damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Necab1	T	C	4: 15,052,628 (GRCm39)	T117A	probably damaging	Het
Nol11	A	G	11: 107,075,544 (GRCm39)		probably benign	Het
Nucb2	G	A	7: 116,139,262 (GRCm39)		probably null	Het
Nup58	G	T	14: 60,488,664 (GRCm39)	P19T	unknown	Het
Odf2	T	A	2: 29,794,046 (GRCm39)	L301Q	probably damaging	Het
Oog4	T	C	4: 143,165,445 (GRCm39)	Y234C	probably benign	Het
Or11j4	A	G	14: 50,630,257 (GRCm39)	I15V	probably benign	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Papln	T	C	12: 83,823,982 (GRCm39)		probably null	Het
Paqr6	C	T	3: 88,273,236 (GRCm39)	A76V	probably benign	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pdzd8	T	C	19: 59,333,743 (GRCm39)	T93A	possibly damaging	Het
Pkdrej	A	T	15: 85,705,368 (GRCm39)	Y189*	probably null	Het
Pknox2	A	T	9: 36,834,934 (GRCm39)	N178K	possibly damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Plxnd1	A	C	6: 115,935,581 (GRCm39)	L1735R	probably damaging	Het
Polm	T	A	11: 5,787,663 (GRCm39)	D30V	possibly damaging	Het
Rap1gap2	T	A	11: 74,328,265 (GRCm39)	I100F	probably damaging	Het
Rasgef1c	T	A	11: 49,869,294 (GRCm39)	W414R	probably benign	Het
Rassf1	A	G	9: 107,435,066 (GRCm39)	D187G	probably benign	Het
Rhag	T	C	17: 41,147,329 (GRCm39)	I397T	probably benign	Het
Rnft2	A	G	5: 118,366,928 (GRCm39)	F269S	probably damaging	Het
Rnmt	T	C	18: 68,447,196 (GRCm39)	F360S	probably damaging	Het
Ror2	C	T	13: 53,271,333 (GRCm39)	A329T	probably benign	Het
Slc4a1	T	A	11: 102,247,084 (GRCm39)	N501I	possibly damaging	Het
Slc4a7	T	A	14: 14,733,856 (GRCm38)	S89T	probably damaging	Het
Sptbn1	G	A	11: 30,050,660 (GRCm39)	H2310Y	probably benign	Het
Tbc1d9b	C	A	11: 50,031,289 (GRCm39)	N103K	probably benign	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tmem100	C	T	11: 89,926,389 (GRCm39)	T72I	probably damaging	Het
Ttc38	A	G	15: 85,737,164 (GRCm39)	T350A	probably benign	Het
Ubr4	C	T	4: 139,177,840 (GRCm39)	T3241M	probably damaging	Het
Unc13d	A	T	11: 115,964,214 (GRCm39)	M350K	possibly damaging	Het
Vit	T	C	17: 78,932,543 (GRCm39)	I550T	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Zbtb12	T	A	17: 35,115,377 (GRCm39)	H387Q	possibly damaging	Het

Other mutations in Gtpbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Gtpbp3	APN	8	71,943,078 (GRCm39)	missense	probably damaging	1.00
IGL02476:Gtpbp3	APN	8	71,945,242 (GRCm39)	missense	probably damaging	1.00
IGL02669:Gtpbp3	APN	8	71,943,546 (GRCm39)	missense	probably damaging	1.00
IGL02885:Gtpbp3	APN	8	71,942,064 (GRCm39)	unclassified	probably benign
IGL03038:Gtpbp3	APN	8	71,941,947 (GRCm39)	missense	possibly damaging	0.94
R0267:Gtpbp3	UTSW	8	71,944,141 (GRCm39)	missense	probably damaging	1.00
R0442:Gtpbp3	UTSW	8	71,944,135 (GRCm39)	missense	probably damaging	0.97
R0639:Gtpbp3	UTSW	8	71,945,379 (GRCm39)	missense	probably damaging	1.00
R0673:Gtpbp3	UTSW	8	71,945,379 (GRCm39)	missense	probably damaging	1.00
R1844:Gtpbp3	UTSW	8	71,945,272 (GRCm39)	missense	probably benign	0.05
R1957:Gtpbp3	UTSW	8	71,943,099 (GRCm39)	missense	probably damaging	1.00
R2996:Gtpbp3	UTSW	8	71,942,140 (GRCm39)	missense	possibly damaging	0.69
R3703:Gtpbp3	UTSW	8	71,944,779 (GRCm39)	missense	probably benign	0.00
R3705:Gtpbp3	UTSW	8	71,944,779 (GRCm39)	missense	probably benign	0.00
R4084:Gtpbp3	UTSW	8	71,943,156 (GRCm39)	missense	probably benign	0.00
R4181:Gtpbp3	UTSW	8	71,944,111 (GRCm39)	missense	probably damaging	1.00
R5081:Gtpbp3	UTSW	8	71,943,026 (GRCm39)	missense	probably damaging	1.00
R5260:Gtpbp3	UTSW	8	71,942,062 (GRCm39)	unclassified	probably benign
R5619:Gtpbp3	UTSW	8	71,943,692 (GRCm39)	intron	probably benign
R5844:Gtpbp3	UTSW	8	71,945,199 (GRCm39)	missense	probably benign	0.01
R6666:Gtpbp3	UTSW	8	71,943,582 (GRCm39)	missense	possibly damaging	0.61
R7092:Gtpbp3	UTSW	8	71,944,909 (GRCm39)	missense	probably benign
R7295:Gtpbp3	UTSW	8	71,942,139 (GRCm39)	missense	possibly damaging	0.81
R7532:Gtpbp3	UTSW	8	71,942,107 (GRCm39)	missense	probably benign	0.00
R7657:Gtpbp3	UTSW	8	71,943,765 (GRCm39)	missense	probably benign
R7948:Gtpbp3	UTSW	8	71,945,230 (GRCm39)	missense	probably damaging	1.00
R8094:Gtpbp3	UTSW	8	71,941,480 (GRCm39)	missense	possibly damaging	0.52
R8138:Gtpbp3	UTSW	8	71,945,242 (GRCm39)	missense	probably damaging	1.00
R8935:Gtpbp3	UTSW	8	71,945,181 (GRCm39)	critical splice acceptor site	probably null
R8973:Gtpbp3	UTSW	8	71,943,806 (GRCm39)	missense	possibly damaging	0.82
R9087:Gtpbp3	UTSW	8	71,944,999 (GRCm39)	missense	probably benign	0.27
X0013:Gtpbp3	UTSW	8	71,945,337 (GRCm39)	missense	possibly damaging	0.77
X0021:Gtpbp3	UTSW	8	71,943,161 (GRCm39)	splice site	probably null
Z1177:Gtpbp3	UTSW	8	71,941,713 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACATTGACTTCGGAGAGGATG -3'
(R):5'- CCACTCTCGTAGCTTTGAGC -3'

Sequencing Primer
(F):5'- ACTTCGGAGAGGATGATAATTTGG -3'
(R):5'- ACCACAGTGTCCAGGAAGCTG -3'

Posted On

2015-10-21