Mutagenetix > Incidental Mutation

Incidental Mutation 'R7092:Gtpbp3'

550290

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp3

Ensembl Gene

ENSMUSG00000007610

Gene Name

GTP binding protein 3

Synonyms

2410009F13Rik, Gtpbp3

MMRRC Submission

045186-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R7092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71940747-71952227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71944909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 388 (I388K)

Ref Sequence

ENSEMBL: ENSMUSP00000007754 (fasta)

Gene Model

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

AlphaFold

Q923K4

Predicted Effect

probably benign
Transcript: ENSMUST00000007754
AA Change: I388K

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

SMART Domains

Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
AA Change: I388K

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

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

probably benign
Transcript: ENSMUST00000150969
AA Change: I388K

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

SMART Domains

Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
AA Change: I388K

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: I389K

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

SMART Domains

Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
AA Change: I389K

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (88/89)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,889,506 (GRCm39)	C37Y	probably benign	Het
A430005L14Rik	T	A	4: 154,045,451 (GRCm39)		probably null	Het
Aadacl2fm3	T	C	3: 59,768,500 (GRCm39)	F10S	probably benign	Het
Abca4	C	G	3: 121,932,218 (GRCm39)	P1499A	probably damaging	Het
Adcy8	T	C	15: 64,743,619 (GRCm39)	N330D	possibly damaging	Het
Arfgef1	A	G	1: 10,223,901 (GRCm39)	Y1466H	probably damaging	Het
Asz1	A	C	6: 18,071,818 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,011,546 (GRCm39)	N1307K	possibly damaging	Het
B4galnt4	C	A	7: 140,648,549 (GRCm39)	F688L	probably damaging	Het
Birc6	C	T	17: 74,953,740 (GRCm39)	T3349I	probably damaging	Het
Ccp110	C	A	7: 118,334,494 (GRCm39)	A989E	probably benign	Het
Ccser2	A	G	14: 36,662,612 (GRCm39)	S191P	probably benign	Het
Cdca2	A	G	14: 67,944,800 (GRCm39)		probably null	Het
Cdcp1	T	A	9: 123,012,678 (GRCm39)	T290S	probably benign	Het
Cep43	C	T	17: 8,391,802 (GRCm39)	P161S	probably benign	Het
Clec2m	T	A	6: 129,299,963 (GRCm39)	T172S	probably benign	Het
Cnnm1	T	C	19: 43,430,387 (GRCm39)	Y502H	probably damaging	Het
Cyba	T	G	8: 123,154,437 (GRCm39)	T29P	probably damaging	Het
Dcaf12	A	T	4: 41,301,366 (GRCm39)	I190N	probably damaging	Het
Depp1	C	A	6: 116,628,749 (GRCm39)	P31T	probably damaging	Het
Epha1	T	C	6: 42,341,179 (GRCm39)	T512A	probably benign	Het
Fancg	G	A	4: 43,004,831 (GRCm39)	P454L	probably benign	Het
Fasn	A	C	11: 120,710,946 (GRCm39)	V268G	possibly damaging	Het
Fip1l1	T	A	5: 74,697,504 (GRCm39)	L42Q	probably damaging	Het
Fjx1	A	G	2: 102,281,101 (GRCm39)	L278P	possibly damaging	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fundc2b	T	A	3: 40,856,809 (GRCm39)	D22V	possibly damaging	Het
Gm1527	T	A	3: 28,968,696 (GRCm39)		probably null	Het
Gng3	T	A	19: 8,815,611 (GRCm39)	M42L	probably benign	Het
Gsdmc2	T	A	15: 63,696,947 (GRCm39)	Q408L	probably damaging	Het
Hmcn1	A	T	1: 150,479,997 (GRCm39)	W4534R	probably damaging	Het
Inhca	G	A	9: 103,158,242 (GRCm39)	S106L	possibly damaging	Het
Ist1	A	T	8: 110,409,228 (GRCm39)		probably null	Het
Kifbp	C	A	10: 62,414,079 (GRCm39)	K26N	probably damaging	Het
Kyat3	T	C	3: 142,435,556 (GRCm39)	I276T	probably damaging	Het
Lipm	C	T	19: 34,098,758 (GRCm39)	P411S	possibly damaging	Het
Lipo3	T	C	19: 33,591,092 (GRCm39)		probably null	Het
Lrrc9	C	A	12: 72,510,238 (GRCm39)	Q446K	possibly damaging	Het
Mfsd4a	G	T	1: 131,995,401 (GRCm39)	T77N	probably benign	Het
Mmp1b	T	A	9: 7,386,981 (GRCm39)	D77V	probably damaging	Het
Mrgprb4	A	G	7: 47,847,984 (GRCm39)	S315P	probably benign	Het
Mroh2b	C	A	15: 4,964,160 (GRCm39)	N887K	possibly damaging	Het
Mto1	A	G	9: 78,377,955 (GRCm39)	K599R	probably benign	Het
Muc5ac	T	C	7: 141,363,385 (GRCm39)		probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mylk2	A	G	2: 152,757,110 (GRCm39)	N295S	probably benign	Het
Nr1i3	G	A	1: 171,041,747 (GRCm39)		probably null	Het
Nup107	T	C	10: 117,626,399 (GRCm39)	K25E	probably damaging	Het
Odc1	G	A	12: 17,598,314 (GRCm39)	V152I	possibly damaging	Het
Or13a20	G	A	7: 140,232,150 (GRCm39)	G86D	probably benign	Het
Or1l4b	T	A	2: 37,036,623 (GRCm39)	M133K	probably damaging	Het
Or5m10b	A	T	2: 85,698,951 (GRCm39)	N5I	probably damaging	Het
Or7g16	G	A	9: 18,727,353 (GRCm39)	P79L	probably damaging	Het
Pde1b	G	T	15: 103,435,458 (GRCm39)	V438L	probably benign	Het
Pde4b	G	A	4: 102,459,048 (GRCm39)	V523M	probably damaging	Het
Pdgfc	C	T	3: 81,111,659 (GRCm39)	P205S	probably damaging	Het
Per2	A	G	1: 91,349,153 (GRCm39)	S1073P	probably damaging	Het
Plekhg5	C	T	4: 152,198,965 (GRCm39)	T1051I	probably damaging	Het
Ppme1	A	T	7: 100,021,029 (GRCm39)	M1K	probably null	Het
Prokr2	A	T	2: 132,223,236 (GRCm39)	V102D	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptprh	C	A	7: 4,583,860 (GRCm39)		probably null	Het
Rbsn	T	C	6: 92,166,607 (GRCm39)	N679S	probably damaging	Het
Rce1	T	C	19: 4,673,118 (GRCm39)	T303A	probably damaging	Het
Rnf123	C	A	9: 107,945,799 (GRCm39)	R329L	probably benign	Het
Robo2	T	A	16: 73,753,531 (GRCm39)	N782I	probably damaging	Het
Ror2	A	C	13: 53,264,272 (GRCm39)	V940G	probably benign	Het
Rpe65	C	T	3: 159,321,228 (GRCm39)	R347C	probably damaging	Het
Rrp8	A	T	7: 105,383,316 (GRCm39)	F317I	probably damaging	Het
Sidt1	A	G	16: 44,120,192 (GRCm39)	V163A	possibly damaging	Het
Sin3b	T	C	8: 73,474,498 (GRCm39)		probably null	Het
Slamf1	A	G	1: 171,604,757 (GRCm39)	T176A	probably benign	Het
Slc12a4	G	T	8: 106,671,855 (GRCm39)	A922D	probably damaging	Het
Slco1a5	T	A	6: 142,194,401 (GRCm39)	Q414L	probably benign	Het
Snx11	C	A	11: 96,663,665 (GRCm39)	R58L	probably damaging	Het
Sp9	A	G	2: 73,104,115 (GRCm39)	D223G	probably damaging	Het
Sptbn1	T	C	11: 30,087,119 (GRCm39)	I1107V	possibly damaging	Het
Stap2	T	C	17: 56,309,954 (GRCm39)	R66G	probably benign	Het
Synrg	T	G	11: 83,899,683 (GRCm39)	F552V	possibly damaging	Het
Trim60	C	T	8: 65,453,700 (GRCm39)	R183H	probably benign	Het
Ttn	T	C	2: 76,733,760 (GRCm39)	D4505G	unknown	Het
Ubxn4	A	G	1: 128,179,959 (GRCm39)	I34M	probably benign	Het
Vac14	T	A	8: 111,442,128 (GRCm39)	M702K	probably damaging	Het
Vmn1r43	T	C	6: 89,846,885 (GRCm39)	I200M	probably benign	Het
Vmn2r108	T	A	17: 20,701,338 (GRCm39)	Y54F	probably benign	Het
Vps13b	T	C	15: 35,640,780 (GRCm39)	Y1382H	probably damaging	Het
Wdr72	T	C	9: 74,117,754 (GRCm39)	I834T	probably damaging	Het
Zfp970	T	A	2: 177,167,085 (GRCm39)	C220S	probably damaging	Het
Zkscan5	T	G	5: 145,156,899 (GRCm39)	I467S	probably benign	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
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'- CAGGATCCTCCATGGTTATGCTTC -3'
(R):5'- ATAGGTCTGAGCCCAAAGCC -3'

Sequencing Primer
(F):5'- AGCAGGCTGACATCATTCTG -3'
(R):5'- AAGCCAGCAACTCTGTTTACATCTG -3'

Posted On

2019-05-15