Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02108:Gtpbp4'

280013

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtpbp4

Ensembl Gene

ENSMUSG00000021149

Gene Name

GTP binding protein 4

Synonyms

Crfg, 2610028C09Rik, Nog1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL02108

Quality Score

Status

Chromosome

Chromosomal Location

9016367-9046119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9035249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 370 (D370V)

Ref Sequence

ENSEMBL: ENSMUSP00000152412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021574] [ENSMUST00000222098]

AlphaFold

Q99ME9

Predicted Effect

probably benign
Transcript: ENSMUST00000021574

SMART Domains

Protein: ENSMUSP00000021574
Gene: ENSMUSG00000021149

Domain	Start	End	E-Value	Type
Pfam:FeoB_N	169	335	4.7e-13	PFAM
Pfam:MMR_HSR1	170	290	1.7e-18	PFAM
Pfam:NOG1	235	292	1.3e-29	PFAM
Pfam:NOGCT	395	446	1.4e-24	PFAM
low complexity region	448	459	N/A	INTRINSIC
low complexity region	467	479	N/A	INTRINSIC
low complexity region	489	503	N/A	INTRINSIC
low complexity region	544	558	N/A	INTRINSIC
low complexity region	560	575	N/A	INTRINSIC
low complexity region	583	600	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221534

Predicted Effect

probably benign
Transcript: ENSMUST00000222098
AA Change: D370V

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 56,325,346 (GRCm39)	I369M	probably damaging	Het
Aff1	T	G	5: 103,958,975 (GRCm39)		probably null	Het
Arid1a	G	T	4: 133,407,827 (GRCm39)	P2227T	unknown	Het
Atp12a	A	T	14: 56,621,525 (GRCm39)	D720V	possibly damaging	Het
Auh	T	C	13: 53,043,133 (GRCm39)		probably benign	Het
Bptf	C	A	11: 106,965,814 (GRCm39)	V1012L	probably benign	Het
Cbr1	T	C	16: 93,407,087 (GRCm39)	F268L	probably benign	Het
Ccdc190	A	G	1: 169,761,555 (GRCm39)	D219G	probably damaging	Het
Ccnb1	C	T	13: 100,917,665 (GRCm39)		probably null	Het
Cdh19	G	T	1: 110,817,461 (GRCm39)	S760R	probably benign	Het
Cecr2	G	A	6: 120,739,519 (GRCm39)		probably null	Het
Chid1	A	T	7: 141,112,841 (GRCm39)	M1K	probably null	Het
Dzank1	T	C	2: 144,348,143 (GRCm39)	T208A	probably benign	Het
Ecm2	T	A	13: 49,671,920 (GRCm39)	Y140*	probably null	Het
Enox2	A	G	X: 48,102,393 (GRCm39)	L533S	possibly damaging	Het
Fntb	A	G	12: 76,934,631 (GRCm39)	E167G	possibly damaging	Het
Gpihbp1	T	C	15: 75,469,461 (GRCm39)	V92A	probably benign	Het
Grsf1	C	T	5: 88,813,762 (GRCm39)	R329Q	probably benign	Het
H2ac4	T	C	13: 23,935,207 (GRCm39)	V31A	probably benign	Het
Klhl14	T	A	18: 21,690,977 (GRCm39)	Y491F	probably damaging	Het
Lamb3	A	T	1: 193,014,530 (GRCm39)	Q563L	probably damaging	Het
Lcn2	A	T	2: 32,277,617 (GRCm39)	L124Q	probably damaging	Het
Mbl1	T	C	14: 40,875,608 (GRCm39)	S21P	possibly damaging	Het
Myrip	G	A	9: 120,296,631 (GRCm39)		probably null	Het
Nmur2	T	C	11: 55,931,190 (GRCm39)	T174A	probably benign	Het
Odf1	C	A	15: 38,226,623 (GRCm39)	Y174*	probably null	Het
Optn	A	G	2: 5,036,084 (GRCm39)	V466A	possibly damaging	Het
Or5m12	A	T	2: 85,734,494 (GRCm39)	D301E	possibly damaging	Het
Or8b9	T	A	9: 37,766,234 (GRCm39)	V40E	possibly damaging	Het
Or8g54	A	T	9: 39,706,808 (GRCm39)	I46F	probably damaging	Het
Pde9a	G	A	17: 31,680,667 (GRCm39)	S316N	probably benign	Het
Phf3	A	T	1: 30,869,032 (GRCm39)	I672K	probably damaging	Het
Pklr	A	T	3: 89,044,710 (GRCm39)	I63F	probably damaging	Het
Plet1	T	C	9: 50,410,387 (GRCm39)		probably benign	Het
Pp2d1	T	A	17: 53,822,433 (GRCm39)	D211V	probably damaging	Het
Ppp6r3	A	T	19: 3,542,494 (GRCm39)	W384R	probably damaging	Het
Prdm11	T	C	2: 92,806,048 (GRCm39)	I301V	probably damaging	Het
Prkar1a	C	T	11: 109,558,351 (GRCm39)	R357C	probably damaging	Het
Ptchd1	T	C	X: 154,356,548 (GRCm39)	T886A	probably damaging	Het
Ptpre	A	T	7: 135,260,831 (GRCm39)	E156V	possibly damaging	Het
Ptprq	T	C	10: 107,482,478 (GRCm39)	T1032A	probably damaging	Het
Rras2	A	G	7: 113,659,623 (GRCm39)	I47T	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Sh3rf3	T	A	10: 58,971,650 (GRCm39)	V826E	probably damaging	Het
Tmem127	T	A	2: 127,099,026 (GRCm39)	S132T	probably damaging	Het
Tnrc6c	C	A	11: 117,612,025 (GRCm39)	P221Q	probably benign	Het
Tstd3	A	T	4: 21,759,366 (GRCm39)		probably benign	Het
Usp46	T	G	5: 74,189,867 (GRCm39)	T55P	probably damaging	Het

Other mutations in Gtpbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Gtpbp4	APN	13	9,027,308 (GRCm39)	missense	probably benign
IGL01319:Gtpbp4	APN	13	9,035,296 (GRCm39)	missense	probably benign	0.05
IGL02116:Gtpbp4	APN	13	9,042,772 (GRCm39)	missense	probably damaging	1.00
IGL02406:Gtpbp4	APN	13	9,041,786 (GRCm39)	missense	possibly damaging	0.81
Atretic	UTSW	13	9,040,773 (GRCm39)	nonsense	probably null
enervated	UTSW	13	9,039,141 (GRCm39)	missense	possibly damaging	0.93
PIT4576001:Gtpbp4	UTSW	13	9,041,763 (GRCm39)	missense	probably damaging	0.99
R0183:Gtpbp4	UTSW	13	9,024,997 (GRCm39)	missense	probably benign	0.05
R0571:Gtpbp4	UTSW	13	9,040,722 (GRCm39)	splice site	probably benign
R1420:Gtpbp4	UTSW	13	9,023,298 (GRCm39)	missense	probably benign	0.00
R1641:Gtpbp4	UTSW	13	9,023,285 (GRCm39)	missense	probably benign	0.22
R1840:Gtpbp4	UTSW	13	9,029,500 (GRCm39)	missense	probably benign	0.00
R1967:Gtpbp4	UTSW	13	9,027,340 (GRCm39)	missense	probably benign	0.01
R2883:Gtpbp4	UTSW	13	9,040,759 (GRCm39)	missense	possibly damaging	0.86
R3862:Gtpbp4	UTSW	13	9,040,834 (GRCm39)	missense	probably damaging	0.99
R4524:Gtpbp4	UTSW	13	9,024,330 (GRCm39)	missense	probably benign	0.02
R4963:Gtpbp4	UTSW	13	9,035,253 (GRCm39)	missense	probably damaging	1.00
R5009:Gtpbp4	UTSW	13	9,039,102 (GRCm39)	missense	probably benign	0.05
R5555:Gtpbp4	UTSW	13	9,029,463 (GRCm39)	critical splice donor site	probably null
R5749:Gtpbp4	UTSW	13	9,045,983 (GRCm39)	critical splice donor site	probably null
R5860:Gtpbp4	UTSW	13	9,023,196 (GRCm39)	missense	probably benign	0.00
R6449:Gtpbp4	UTSW	13	9,040,773 (GRCm39)	nonsense	probably null
R6616:Gtpbp4	UTSW	13	9,039,141 (GRCm39)	missense	possibly damaging	0.93
R7261:Gtpbp4	UTSW	13	9,037,954 (GRCm39)	missense	probably benign	0.12
R7829:Gtpbp4	UTSW	13	9,035,366 (GRCm39)	splice site	probably null
R7999:Gtpbp4	UTSW	13	9,037,322 (GRCm39)	missense	probably damaging	1.00
R8698:Gtpbp4	UTSW	13	9,024,249 (GRCm39)	missense	probably benign	0.00
R9765:Gtpbp4	UTSW	13	9,024,994 (GRCm39)	missense	probably benign	0.21

Posted On

2015-04-16