Mutagenetix > Incidental Mutation

Incidental Mutation 'R5860:Gtpbp4'

453861

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp4

Ensembl Gene

ENSMUSG00000021149

Gene Name

GTP binding protein 4

Synonyms

Crfg, 2610028C09Rik, Nog1

MMRRC Submission

044072-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R5860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9016367-9046119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9023196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 623 (S623T)

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

probably benign
Transcript: ENSMUST00000222098
AA Change: S623T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222975

Meta Mutation Damage Score

0.0734

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.8%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568A12Rik	A	G	1: 34,524,661 (GRCm39)		noncoding transcript	Het
A2ml1	T	C	6: 128,518,024 (GRCm39)	T1421A	probably benign	Het
Actr8	T	A	14: 29,708,242 (GRCm39)	Y150*	probably null	Het
Adamts1	A	G	16: 85,595,432 (GRCm39)	C249R	probably damaging	Het
Adgre1	T	A	17: 57,752,034 (GRCm39)	I594N	probably damaging	Het
Atf6	A	T	1: 170,669,344 (GRCm39)	L119H	probably damaging	Het
Atf6	G	A	1: 170,669,345 (GRCm39)	L119F	possibly damaging	Het
B3gat2	G	A	1: 23,854,400 (GRCm39)	W33*	probably null	Het
Bach2	A	G	4: 32,580,268 (GRCm39)	D831G	probably damaging	Het
Ccnk	A	T	12: 108,153,466 (GRCm39)	I76F	probably damaging	Het
Cdyl	A	C	13: 36,042,066 (GRCm39)	K368T	possibly damaging	Het
Chi3l1	A	G	1: 134,112,909 (GRCm39)	T114A	probably benign	Het
Cnppd1	A	G	1: 75,113,131 (GRCm39)	V379A	probably benign	Het
Col11a2	C	A	17: 34,283,159 (GRCm39)		probably benign	Het
Creb3l1	T	C	2: 91,854,399 (GRCm39)	S18G	probably benign	Het
Crybg3	A	C	16: 59,385,632 (GRCm39)	D197E	probably damaging	Het
Cryga	T	C	1: 65,142,527 (GRCm39)		probably benign	Het
Cthrc1	T	C	15: 38,950,080 (GRCm39)	C146R	probably damaging	Het
Cyp2c39	A	T	19: 39,525,270 (GRCm39)	D191V	probably damaging	Het
Dchs1	C	T	7: 105,421,242 (GRCm39)	A393T	probably damaging	Het
Dhx30	G	A	9: 109,913,645 (GRCm39)	T1126I	probably damaging	Het
Dock2	C	T	11: 34,206,562 (GRCm39)	G1345R	probably damaging	Het
Dsc1	T	C	18: 20,228,081 (GRCm39)	E425G	probably damaging	Het
Dynlt2b	A	G	16: 32,247,614 (GRCm39)	Y143C	probably damaging	Het
Exosc8	C	T	3: 54,642,463 (GRCm39)		probably benign	Het
Fat1	C	T	8: 45,504,166 (GRCm39)	A4553V	probably benign	Het
Flnb	T	A	14: 7,931,135 (GRCm38)	L2119Q	probably damaging	Het
Fnbp4	T	A	2: 90,587,826 (GRCm39)	D401E	probably benign	Het
Glyctk	T	C	9: 106,032,906 (GRCm39)	E369G	possibly damaging	Het
Gm14149	C	A	2: 151,066,225 (GRCm39)		noncoding transcript	Het
Golga4	T	C	9: 118,387,174 (GRCm39)	L1432P	probably damaging	Het
Insc	A	C	7: 114,390,383 (GRCm39)	S85R	probably damaging	Het
Lgr4	G	A	2: 109,821,496 (GRCm39)	R126H	probably damaging	Het
M1ap	T	A	6: 82,980,795 (GRCm39)	L227Q	probably damaging	Het
Marchf7	T	C	2: 60,067,187 (GRCm39)	I569T	probably damaging	Het
Mbd1	C	A	18: 74,409,768 (GRCm39)	C339*	probably null	Het
Moxd2	T	A	6: 40,857,341 (GRCm39)	Y473F	probably damaging	Het
Mrgpra6	T	C	7: 46,839,099 (GRCm39)	H2R	probably benign	Het
Mtus1	T	G	8: 41,529,303 (GRCm39)	L742F	probably damaging	Het
Nek11	A	G	9: 105,270,160 (GRCm39)	Y21H	probably benign	Het
Notch4	G	T	17: 34,801,392 (GRCm39)	C1080F	probably damaging	Het
Nsd3	C	A	8: 26,156,107 (GRCm39)	P558Q	probably damaging	Het
Oas1e	A	T	5: 120,930,015 (GRCm39)	S168T	probably benign	Het
Ogfr	T	C	2: 180,234,285 (GRCm39)	S119P	probably damaging	Het
Or2y15	A	G	11: 49,350,563 (GRCm39)	D19G	probably damaging	Het
Or8g20	T	A	9: 39,395,767 (GRCm39)	M261L	probably benign	Het
Pde4dip	A	G	3: 97,631,504 (GRCm39)	I1135T	possibly damaging	Het
Prex1	G	A	2: 166,486,604 (GRCm39)		probably benign	Het
Ptprf	T	C	4: 118,068,486 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,875,859 (GRCm39)	V359A	probably damaging	Het
Ric1	A	G	19: 29,577,245 (GRCm39)	S1050G	possibly damaging	Het
Rnft2	A	G	5: 118,366,868 (GRCm39)	I290T	possibly damaging	Het
Senp7	C	A	16: 55,975,722 (GRCm39)	A476E	possibly damaging	Het
Serpinh1	G	A	7: 98,995,571 (GRCm39)	S337L	probably damaging	Het
Slc5a12	C	A	2: 110,427,969 (GRCm39)	A8D	probably benign	Het
Smg5	T	A	3: 88,250,214 (GRCm39)	C109S	probably damaging	Het
Speer4b	T	C	5: 27,705,226 (GRCm39)	H49R	possibly damaging	Het
Tas2r109	T	C	6: 132,957,664 (GRCm39)	I89V	probably benign	Het
Tet1	A	G	10: 62,648,399 (GRCm39)		probably null	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Tpgs1	G	A	10: 79,505,545 (GRCm39)	G101D	probably damaging	Het
Trim13	T	G	14: 61,842,188 (GRCm39)	S68R	probably damaging	Het
Vwf	A	G	6: 125,620,053 (GRCm39)	N1577S		Het
Vwf	G	T	6: 125,656,228 (GRCm39)		probably benign	Het
Xpr1	T	C	1: 155,207,868 (GRCm39)		probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zftraf1	A	T	15: 76,532,391 (GRCm39)	I239N	probably damaging	Het
Zftraf1	T	C	15: 76,540,615 (GRCm39)	Y101C	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
IGL02108:Gtpbp4	APN	13	9,035,249 (GRCm39)	missense	probably benign	0.20
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
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

Predicted Primers

PCR Primer
(F):5'- AGTAGGGTTTGCCAGTTTCC -3'
(R):5'- ACTGAGACAACGGGGTTGAC -3'

Sequencing Primer
(F):5'- TTTGCCAGTTTCCAGCAAAGCAG -3'
(R):5'- CAACGGGGTTGACATACTGGC -3'

Posted On

2017-02-10