Mutagenetix > Incidental Mutation

Incidental Mutation 'R7999:Gtpbp4'

616283

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp4

Ensembl Gene

ENSMUSG00000021149

Gene Name

GTP binding protein 4

Synonyms

Crfg, 2610028C09Rik, Nog1

MMRRC Submission

046039-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9016367-9046119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9037322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 292 (D292G)

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 damaging
Transcript: ENSMUST00000222098
AA Change: D292G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,841,580 (GRCm39)	E289G	probably benign	Het
Armc2	C	T	10: 41,887,954 (GRCm39)	E10K	possibly damaging	Het
Aspscr1	T	C	11: 120,569,348 (GRCm39)		probably null	Het
B3galnt1	A	G	3: 69,482,548 (GRCm39)	C238R	probably damaging	Het
Bak1	A	G	17: 27,240,280 (GRCm39)	L129P	probably damaging	Het
Bdp1	A	G	13: 100,195,404 (GRCm39)	F1272L	possibly damaging	Het
C2cd3	G	A	7: 100,109,096 (GRCm39)		probably null	Het
Cacna1b	A	T	2: 24,540,638 (GRCm39)	V1363E	probably damaging	Het
Capn11	T	C	17: 45,950,132 (GRCm39)	N344S	probably damaging	Het
Ces1f	A	T	8: 93,989,623 (GRCm39)	V431E	possibly damaging	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Defa29	A	T	8: 21,816,859 (GRCm39)	S45T	probably benign	Het
Dnaaf9	C	A	2: 130,579,372 (GRCm39)	V753L	probably benign	Het
Dnah10	A	G	5: 124,802,322 (GRCm39)	D32G	probably benign	Het
Dnajc24	T	A	2: 105,811,365 (GRCm39)	N70I	probably damaging	Het
Duox2	C	T	2: 122,113,948 (GRCm39)	V1195I	probably benign	Het
Enam	A	T	5: 88,651,561 (GRCm39)	R1023S	probably benign	Het
Ephx4	A	T	5: 107,567,699 (GRCm39)	Q219L	probably damaging	Het
Eppk1	T	C	15: 75,993,204 (GRCm39)	T1226A	probably benign	Het
Eppk1	T	C	15: 75,993,335 (GRCm39)	Q1182R	probably benign	Het
Fiz1	A	T	7: 5,011,997 (GRCm39)	S174T	probably benign	Het
Ggnbp1	C	T	17: 27,248,619 (GRCm39)	R63C	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsdmd	T	A	15: 75,735,295 (GRCm39)	I13N	probably damaging	Het
Hnf1a	A	T	5: 115,098,233 (GRCm39)	L123*	probably null	Het
Ints11	A	G	4: 155,971,413 (GRCm39)	D309G	probably benign	Het
Ints5	T	C	19: 8,874,407 (GRCm39)	S789P	probably benign	Het
Jakmip2	G	A	18: 43,696,398 (GRCm39)	A517V	probably benign	Het
Kat7	A	G	11: 95,174,935 (GRCm39)	Y270H	probably damaging	Het
Kmt2b	A	G	7: 30,276,199 (GRCm39)	S1767P	probably damaging	Het
Lonp2	A	G	8: 87,361,537 (GRCm39)	D238G	probably benign	Het
Lrfn3	A	G	7: 30,059,449 (GRCm39)	W259R	probably damaging	Het
Mmrn2	G	A	14: 34,119,879 (GRCm39)	D250N	probably benign	Het
Mre11a	A	T	9: 14,710,965 (GRCm39)	R49*	probably null	Het
Mug1	T	C	6: 121,857,855 (GRCm39)	L1116P	possibly damaging	Het
Mup9	A	G	4: 60,374,202 (GRCm39)	S234P	probably benign	Het
Nlrp9c	A	G	7: 26,084,914 (GRCm39)	F222L	possibly damaging	Het
Nr2e3	A	G	9: 59,856,282 (GRCm39)	V85A	probably damaging	Het
Or4a79	A	G	2: 89,552,344 (GRCm39)	I37T	probably benign	Het
Prl3d2	A	G	13: 27,307,949 (GRCm39)	T77A	probably benign	Het
Prpsap1	A	T	11: 116,381,042 (GRCm39)	M1K	probably null	Het
Prrc2b	C	T	2: 32,084,426 (GRCm39)	T297M	probably damaging	Het
Rasa3	A	G	8: 13,681,805 (GRCm39)	F48S	probably benign	Het
Rbm24	A	T	13: 46,572,507 (GRCm39)	M1L	possibly damaging	Het
Ren1	C	A	1: 133,282,604 (GRCm39)	T103K	probably damaging	Het
Rpf2	C	T	10: 40,099,880 (GRCm39)	G260S	probably damaging	Het
Sall4	C	T	2: 168,594,561 (GRCm39)	G862D	probably damaging	Het
Samd4	G	T	14: 47,301,704 (GRCm39)	R336L	probably damaging	Het
Shoc1	G	C	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Siglec1	T	C	2: 130,913,083 (GRCm39)	N1611S	probably benign	Het
Skil	A	G	3: 31,151,751 (GRCm39)	H91R	possibly damaging	Het
Snip1	T	C	4: 124,965,174 (GRCm39)	V193A	probably benign	Het
Sp2	A	T	11: 96,852,663 (GRCm39)	I87N	probably damaging	Het
Syna	T	C	5: 134,588,046 (GRCm39)	H301R	probably benign	Het
Tdg	A	G	10: 82,477,216 (GRCm39)	K89R	possibly damaging	Het
Tdrd7	G	A	4: 46,010,902 (GRCm39)		probably null	Het
Trak1	G	A	9: 121,289,491 (GRCm39)	R601H	probably damaging	Het
Triobp	T	C	15: 78,844,144 (GRCm39)	L120P	probably damaging	Het
Utp20	A	T	10: 88,606,250 (GRCm39)	N1697K	probably benign	Het
Uts2r	G	A	11: 121,051,495 (GRCm39)	V120M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,256 (GRCm39)	L162P	probably damaging	Het
Zbtb17	G	A	4: 141,189,134 (GRCm39)	R18Q	probably damaging	Het
Zfp551	A	T	7: 12,151,138 (GRCm39)	C90*	probably null	Het
Zfp605	T	A	5: 110,276,300 (GRCm39)	C473S	probably damaging	Het
Zfp764l1	T	A	7: 126,991,600 (GRCm39)	S117C	probably damaging	Het
Zfp975	A	T	7: 42,312,356 (GRCm39)	Y86N	probably benign	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
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
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'- AGGAAACCCCTGAGGATCATC -3'
(R):5'- ACTTTACTGCACTGCTCAGGAC -3'

Sequencing Primer
(F):5'- GAAACCCCTGAGGATCATCTTAGTTC -3'
(R):5'- TGCACTGCTCAGGACAGGAC -3'

Posted On

2020-01-23