Mutagenetix > Incidental Mutation

Incidental Mutation 'R5619:Gtpbp3'

439715

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp3

Ensembl Gene

ENSMUSG00000007610

Gene Name

GTP binding protein 3

Synonyms

2410009F13Rik, Gtpbp3

MMRRC Submission

043278-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R5619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71940747-71952227 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 71943692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126761 (fasta)

Gene Model

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

AlphaFold

Q923K4

Predicted Effect

probably benign
Transcript: ENSMUST00000007754

SMART Domains

Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610

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

SMART Domains

Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610

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

SMART Domains

Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610

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

SMART Domains

Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.7%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adgre1	T	G	17: 57,727,437 (GRCm39)	L456V	probably benign	Het
Adgrv1	C	T	13: 81,620,619 (GRCm39)	G3943R	probably damaging	Het
Akap9	A	G	5: 4,004,760 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,106,948 (GRCm39)	I791F	probably damaging	Het
BC004004	C	G	17: 29,501,703 (GRCm39)	P81A	probably damaging	Het
Brca2	C	A	5: 150,480,579 (GRCm39)	T2755K	probably damaging	Het
Cacna1c	T	C	6: 118,719,322 (GRCm39)	D215G	probably damaging	Het
Ccdc142	C	T	6: 83,080,603 (GRCm39)	S445F	probably benign	Het
Comt	T	C	16: 18,230,469 (GRCm39)	E80G	probably damaging	Het
Coq7	T	C	7: 118,126,709 (GRCm39)		probably benign	Het
Coro7	C	A	16: 4,494,799 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,792,228 (GRCm39)	S239P	probably damaging	Het
Dnah5	T	C	15: 28,302,581 (GRCm39)	S1613P	probably damaging	Het
Dync2h1	T	C	9: 7,118,885 (GRCm39)	I2193M	probably benign	Het
Eipr1	A	G	12: 28,917,078 (GRCm39)	Y382C	probably damaging	Het
Fastkd2	T	A	1: 63,778,469 (GRCm39)	H447Q	probably benign	Het
Galk2	A	T	2: 125,817,317 (GRCm39)	R369*	probably null	Het
Gli2	G	A	1: 118,764,485 (GRCm39)	A1222V	probably benign	Het
Golim4	T	A	3: 75,813,802 (GRCm39)	K141*	probably null	Het
Gzmd	C	T	14: 56,367,224 (GRCm39)	A223T	probably benign	Het
Igf2r	T	C	17: 12,958,221 (GRCm39)	R151G	probably damaging	Het
Itga8	T	A	2: 12,270,139 (GRCm39)	R116W	probably damaging	Het
Klhdc1	T	G	12: 69,304,919 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,516,602 (GRCm39)	Y198H	probably benign	Het
Klhl29	A	T	12: 5,190,587 (GRCm39)	M136K	probably benign	Het
Lipf	A	T	19: 33,944,292 (GRCm39)	Y167F	possibly damaging	Het
Lpar1	T	C	4: 58,487,155 (GRCm39)	K39E	possibly damaging	Het
Mbtd1	T	A	11: 93,820,705 (GRCm39)		probably null	Het
Myo1a	T	A	10: 127,554,413 (GRCm39)	N794K	probably benign	Het
Nmrk1	T	C	19: 18,622,452 (GRCm39)	L177P	possibly damaging	Het
Noxa1	C	T	2: 24,975,988 (GRCm39)	E401K	probably damaging	Het
Or10g9b	T	A	9: 39,918,039 (GRCm39)	M69L	probably benign	Het
Or4f53	A	T	2: 111,087,856 (GRCm39)	Y132F	probably damaging	Het
Ostm1	T	A	10: 42,555,325 (GRCm39)	C116S	probably damaging	Het
Pcdhga7	T	C	18: 37,848,800 (GRCm39)	I269T	probably benign	Het
Pfkfb3	T	C	2: 11,489,470 (GRCm39)	K276R	probably benign	Het
Pfkp	A	T	13: 6,648,765 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,153,270 (GRCm39)	D142G	probably damaging	Het
Pkp3	T	C	7: 140,668,419 (GRCm39)	L556P	probably damaging	Het
Plb1	C	A	5: 32,490,841 (GRCm39)	T1046N	probably damaging	Het
Plxnb2	T	C	15: 89,047,012 (GRCm39)	S770G	possibly damaging	Het
Polk	A	T	13: 96,620,064 (GRCm39)	I733N	probably damaging	Het
Potegl	T	C	2: 23,147,017 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,136,156 (GRCm39)	C301F	probably damaging	Het
Rabgap1l	T	C	1: 160,066,142 (GRCm39)	T189A	probably benign	Het
Raph1	T	C	1: 60,529,414 (GRCm39)		probably benign	Het
Rbm22	T	A	18: 60,693,899 (GRCm39)	M1K	probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf186	T	A	4: 138,694,715 (GRCm39)	I85N	probably benign	Het
Ryr2	C	A	13: 11,723,088 (GRCm39)	R2517L	probably damaging	Het
Sec63	T	A	10: 42,665,378 (GRCm39)	Y103N	probably damaging	Het
Serpinb3a	G	A	1: 106,974,838 (GRCm39)	P232S	probably damaging	Het
Slco6d1	C	A	1: 98,423,947 (GRCm39)	T533K	probably damaging	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Spata46	A	T	1: 170,136,490 (GRCm39)	I14F	probably damaging	Het
Speer4b	T	C	5: 27,703,815 (GRCm39)	H106R	possibly damaging	Het
Spint4	T	C	2: 164,542,761 (GRCm39)	L118P	probably benign	Het
Sptbn5	A	G	2: 119,880,613 (GRCm39)		noncoding transcript	Het
Tgfbr3	A	T	5: 107,288,380 (GRCm39)	I427N	probably benign	Het
Thbs2	C	A	17: 14,901,506 (GRCm39)	C491F	probably damaging	Het
Tmem232	T	A	17: 65,793,506 (GRCm39)	E64D	probably benign	Het
Tnpo3	A	T	6: 29,565,197 (GRCm39)	C585*	probably null	Het
Ttc13	A	T	8: 125,406,683 (GRCm39)		probably benign	Het
Tuba8	C	T	6: 121,202,854 (GRCm39)	A389V	probably damaging	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Usp25	A	G	16: 76,830,833 (GRCm39)	I30V	probably benign	Het
Vmn2r31	T	A	7: 7,387,529 (GRCm39)	K681*	probably null	Het
Vmn2r88	A	G	14: 51,651,367 (GRCm39)	E235G	probably damaging	Het
Vps29	T	A	5: 122,492,511 (GRCm39)		probably benign	Het
Wdr1	A	C	5: 38,686,879 (GRCm39)	V568G	possibly damaging	Het
Zfp64	T	G	2: 168,741,734 (GRCm39)	Q398P	probably damaging	Het
Zfp64	G	T	2: 168,741,735 (GRCm39)	Q398K	probably damaging	Het
Zfp839	T	C	12: 110,830,470 (GRCm39)	Y398H	probably 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
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
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'- GAGGCCAGTCTGGTTGTATAGATC -3'
(R):5'- TTCCTGAACCCCACATACTGAG -3'

Sequencing Primer
(F):5'- TGAGAGAGCACCTGTGACATCTC -3'
(R):5'- GAGTAGATTCACCAGACTGCTCTTG -3'

Posted On

2016-11-08