Mutagenetix > Incidental Mutation

Incidental Mutation 'R7295:Gtpbp3'

566676

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp3

Ensembl Gene

ENSMUSG00000007610

Gene Name

GTP binding protein 3

Synonyms

2410009F13Rik, Gtpbp3

MMRRC Submission

045363-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R7295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71940747-71952227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 71942139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 123 (S123R)

Ref Sequence

ENSEMBL: ENSMUSP00000007754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007754] [ENSMUST00000093450] [ENSMUST00000095259] [ENSMUST00000127741] [ENSMUST00000150969] [ENSMUST00000168847] [ENSMUST00000213382]

AlphaFold

Q923K4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007754
AA Change: S123R

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
AA Change: S123R

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: ENSMUST00000093450

SMART Domains

Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
Pfam:Anoctamin	237	874	3e-149	PFAM
coiled coil region	881	919	N/A	INTRINSIC
low complexity region	948	964	N/A	INTRINSIC
low complexity region	974	988	N/A	INTRINSIC
low complexity region	1042	1056	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095259
AA Change: S123R

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610
AA Change: S123R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127741
AA Change: S123R

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610
AA Change: S123R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150969
AA Change: S123R

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
AA Change: S123R

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: S124R

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
AA Change: S124R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213382

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Acp7	A	T	7: 28,328,955 (GRCm39)	F75Y	possibly damaging	Het
Adamts19	T	A	18: 58,970,955 (GRCm39)	Y180N	probably damaging	Het
Adck1	G	T	12: 88,397,815 (GRCm39)	D150Y	probably damaging	Het
Alb	T	A	5: 90,610,693 (GRCm39)		probably null	Het
Baat	A	T	4: 49,490,275 (GRCm39)	Y270N	probably damaging	Het
Bmp7	A	T	2: 172,781,690 (GRCm39)	I58N	probably damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
Cbfa2t3	T	G	8: 123,364,768 (GRCm39)	D338A	probably benign	Het
Ccnd2	A	T	6: 127,125,725 (GRCm39)	C104S	possibly damaging	Het
Clip1	G	T	5: 123,765,419 (GRCm39)	Q713K	probably benign	Het
Ddx28	G	A	8: 106,737,476 (GRCm39)	S194L	probably benign	Het
Dync1h1	T	C	12: 110,631,183 (GRCm39)		probably null	Het
Edil3	T	A	13: 89,279,902 (GRCm39)	Y193*	probably null	Het
Eprs1	A	G	1: 185,150,407 (GRCm39)		probably null	Het
Ercc6l2	T	G	13: 63,967,589 (GRCm39)	I63R	probably damaging	Het
Fam171a2	T	C	11: 102,329,064 (GRCm39)	E565G	possibly damaging	Het
Fbn1	T	A	2: 125,177,407 (GRCm39)	D1810V	probably damaging	Het
Foxj2	T	C	6: 122,817,190 (GRCm39)	S506P	probably benign	Het
Frmpd1	A	G	4: 45,285,700 (GRCm39)	E1507G	probably damaging	Het
Gfm1	G	A	3: 67,347,514 (GRCm39)	V258I	probably benign	Het
Gphn	T	C	12: 78,538,876 (GRCm39)	V174A	probably benign	Het
H2bc8	T	C	13: 23,755,943 (GRCm39)	S113P	probably benign	Het
Hbs1l	T	C	10: 21,186,051 (GRCm39)	V491A	probably benign	Het
Hoxc12	A	G	15: 102,846,810 (GRCm39)	N234S	probably damaging	Het
Il22b	A	T	10: 118,130,848 (GRCm39)	L16*	probably null	Het
Kcnj5	T	C	9: 32,234,087 (GRCm39)	D76G	probably damaging	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Lonp1	G	T	17: 56,929,495 (GRCm39)	Q181K	possibly damaging	Het
Mgst1	A	T	6: 138,124,754 (GRCm39)	I23F	probably benign	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Myocos	T	C	1: 162,484,687 (GRCm39)	R41G	unknown	Het
Myod1	A	G	7: 46,027,643 (GRCm39)	D261G	probably benign	Het
Nop14	C	T	5: 34,796,376 (GRCm39)	R781Q	probably damaging	Het
Nsmaf	A	G	4: 6,438,083 (GRCm39)	V63A	probably benign	Het
Ntsr1	A	T	2: 180,142,725 (GRCm39)	H172L	probably damaging	Het
Or4k6	T	C	14: 50,476,073 (GRCm39)	K90E	probably damaging	Het
Or8b1c	A	T	9: 38,384,739 (GRCm39)	E232V	probably benign	Het
Pcdha11	T	C	18: 37,139,979 (GRCm39)	V536A	probably damaging	Het
Pcdha6	T	A	18: 37,101,189 (GRCm39)	N127K	probably damaging	Het
Prps1l1	T	A	12: 35,035,679 (GRCm39)	C265S	probably benign	Het
Prune2	A	G	19: 17,097,261 (GRCm39)	S922G	probably benign	Het
Qpctl	A	T	7: 18,883,055 (GRCm39)	M19K	probably benign	Het
Rad51	C	T	2: 118,964,599 (GRCm39)	T230I	possibly damaging	Het
Rad9b	A	G	5: 122,472,341 (GRCm39)	F246L	possibly damaging	Het
Rarb	A	T	14: 16,508,932 (GRCm38)		probably null	Het
Sdcbp2	T	C	2: 151,429,321 (GRCm39)	S214P	possibly damaging	Het
Slc22a1	T	A	17: 12,875,892 (GRCm39)	M441L	probably benign	Het
Slc35f1	G	A	10: 52,938,637 (GRCm39)	V190I	probably benign	Het
Spon1	A	T	7: 113,629,475 (GRCm39)	Q373L	possibly damaging	Het
Ssbp2	T	A	13: 91,842,122 (GRCm39)		probably null	Het
Sult1e1	T	A	5: 87,726,512 (GRCm39)	R201*	probably null	Het
Traj32	T	A	14: 54,423,606 (GRCm39)	L16Q		Het
Ttc16	T	C	2: 32,664,437 (GRCm39)	I67V	probably null	Het
Ttn	T	A	2: 76,556,899 (GRCm39)	K30035N	probably damaging	Het
Ttn	T	A	2: 76,776,473 (GRCm39)	Y1607F	unknown	Het
Usp16	G	A	16: 87,268,977 (GRCm39)	R290H	probably benign	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Xpnpep3	A	G	15: 81,298,735 (GRCm39)	H56R	probably damaging	Het
Zfp592	G	T	7: 80,674,070 (GRCm39)	D345Y	probably damaging	Het
Zfp931	A	T	2: 177,709,824 (GRCm39)	Y187*	probably null	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
R4705:Gtpbp3	UTSW	8	71,943,758 (GRCm39)	missense	probably benign	0.23
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
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'- AGTGCAGAGTCCTTAGTCCC -3'
(R):5'- ACTCGGGTTCACATTTGGC -3'

Sequencing Primer
(F):5'- AGAGTCCTTAGTCCCCAGCAG -3'
(R):5'- GGCAACAATCACCTTTACTGG -3'

Posted On

2019-06-26