Mutagenetix > Incidental Mutation

Incidental Mutation 'R4878:Gtpbp6'

375055

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp6

Ensembl Gene

ENSMUSG00000033434

Gene Name

GTP binding protein 6 (putative)

Synonyms

pgpl, Pgbpll

MMRRC Submission

042487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110251841-110256063 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 110255177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077220] [ENSMUST00000086686] [ENSMUST00000086687] [ENSMUST00000112528] [ENSMUST00000112534] [ENSMUST00000135409] [ENSMUST00000140538] [ENSMUST00000147631]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000077220

SMART Domains

Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434

Domain	Start	End	E-Value	Type
low complexity region	50	83	N/A	INTRINSIC
Pfam:GTP-bdg_N	107	198	9.1e-15	PFAM
Pfam:GTP-bdg_M	200	279	1.9e-17	PFAM
Pfam:MMR_HSR1	286	404	3.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086686

SMART Domains

Protein: ENSMUSP00000083891
Gene: ENSMUSG00000023284

Domain	Start	End	E-Value	Type
KRAB	6	66	3.75e-28	SMART
low complexity region	147	159	N/A	INTRINSIC
ZnF_C2H2	200	222	1.36e-2	SMART
ZnF_C2H2	228	250	4.38e1	SMART
ZnF_C2H2	305	327	1.18e-2	SMART
ZnF_C2H2	333	355	5.14e-3	SMART
ZnF_C2H2	361	383	9.73e-4	SMART
ZnF_C2H2	389	411	4.99e1	SMART
ZnF_C2H2	443	465	5.4e1	SMART
ZnF_C2H2	471	493	1.3e-4	SMART
ZnF_C2H2	499	521	4.24e-4	SMART
ZnF_C2H2	527	549	1.95e-3	SMART
ZnF_C2H2	555	577	2.09e-3	SMART
ZnF_C2H2	583	605	1.2e-3	SMART
ZnF_C2H2	611	633	1.79e-2	SMART
ZnF_C2H2	639	661	2.53e-2	SMART
ZnF_C2H2	667	689	2.09e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086687

SMART Domains

Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	48	355	1e-70	SMART
PDB:1AOD\|A	57	228	1e-12	PDB
Blast:PLCXc	70	228	8e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112528

SMART Domains

Protein: ENSMUSP00000108147
Gene: ENSMUSG00000023284

Domain	Start	End	E-Value	Type
KRAB	6	66	3.75e-28	SMART
low complexity region	147	159	N/A	INTRINSIC
ZnF_C2H2	200	222	1.36e-2	SMART
ZnF_C2H2	228	250	4.38e1	SMART
ZnF_C2H2	305	327	1.18e-2	SMART
ZnF_C2H2	333	355	5.14e-3	SMART
ZnF_C2H2	361	383	9.73e-4	SMART
ZnF_C2H2	389	411	4.99e1	SMART
ZnF_C2H2	443	465	5.4e1	SMART
ZnF_C2H2	471	493	1.3e-4	SMART
ZnF_C2H2	499	521	4.24e-4	SMART
ZnF_C2H2	527	549	1.95e-3	SMART
ZnF_C2H2	555	577	2.09e-3	SMART
ZnF_C2H2	583	605	1.2e-3	SMART
ZnF_C2H2	611	633	1.79e-2	SMART
ZnF_C2H2	639	661	2.53e-2	SMART
ZnF_C2H2	667	689	2.09e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112534

SMART Domains

Protein: ENSMUSP00000108153
Gene: ENSMUSG00000064247

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	1	111	2e-21	SMART
PDB:1AOD\|A	7	95	3e-6	PDB
Blast:PLCXc	15	121	4e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127628

Predicted Effect

unknown
Transcript: ENSMUST00000135409
AA Change: G5E

SMART Domains

Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434
AA Change: G5E

Domain	Start	End	E-Value	Type
low complexity region	162	173	N/A	INTRINSIC
coiled coil region	185	218	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144089

Predicted Effect

probably benign
Transcript: ENSMUST00000140538

Predicted Effect

probably benign
Transcript: ENSMUST00000147631

SMART Domains

Protein: ENSMUSP00000122236
Gene: ENSMUSG00000023284

Domain	Start	End	E-Value	Type
KRAB	6	66	3.75e-28	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,340,415 (GRCm39)	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,761,714 (GRCm39)	N159I	possibly damaging	Het
Agrn	A	T	4: 156,255,302 (GRCm39)	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Atg2a	A	T	19: 6,300,274 (GRCm39)	E694V	probably damaging	Het
Ccndbp1	T	A	2: 120,845,172 (GRCm39)	L363*	probably null	Het
Cdh16	A	T	8: 105,344,696 (GRCm39)	D478E	probably damaging	Het
Cep295	A	T	9: 15,246,252 (GRCm39)	W735R	probably benign	Het
Cnnm2	C	T	19: 46,847,522 (GRCm39)	P682S	probably benign	Het
Daam2	C	A	17: 49,767,738 (GRCm39)	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,984,543 (GRCm39)	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,456,231 (GRCm39)		probably benign	Het
Efemp2	A	T	19: 5,530,789 (GRCm39)		probably benign	Het
Emilin1	A	G	5: 31,074,410 (GRCm39)	D217G	probably benign	Het
Enpep	A	T	3: 129,070,420 (GRCm39)	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,931,625 (GRCm39)	V623A	probably damaging	Het
Erlin2	T	A	8: 27,517,194 (GRCm39)		probably null	Het
Fbln2	T	C	6: 91,233,977 (GRCm39)		probably null	Het
Gga3	A	T	11: 115,482,147 (GRCm39)	I157N	probably damaging	Het
Hps4	T	C	5: 112,523,234 (GRCm39)	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,083,567 (GRCm39)	Y51C	probably benign	Het
Kif13b	T	C	14: 65,043,603 (GRCm39)	L1801P	probably benign	Het
Kif16b	T	C	2: 142,689,923 (GRCm39)	I330V	probably damaging	Het
Klb	A	T	5: 65,505,833 (GRCm39)	R27W	probably damaging	Het
Lrif1	A	T	3: 106,642,956 (GRCm39)	K169M	probably damaging	Het
Lrrc37	A	G	11: 103,508,717 (GRCm39)		probably benign	Het
Met	A	G	6: 17,549,058 (GRCm39)	D970G	probably damaging	Het
Mical3	A	T	6: 120,946,348 (GRCm39)	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094 (GRCm39)	N97D	probably benign	Het
Msh5	G	A	17: 35,257,432 (GRCm39)	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,387,292 (GRCm39)	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,325,004 (GRCm39)	G970D	probably damaging	Het
Neb	T	C	2: 52,109,406 (GRCm39)	Y232C	probably damaging	Het
Nefh	A	G	11: 4,891,333 (GRCm39)	S429P	probably damaging	Het
Notch3	C	T	17: 32,366,059 (GRCm39)	G1014D	probably damaging	Het
Nup107	A	T	10: 117,587,323 (GRCm39)	C859S	probably benign	Het
Or1d2	T	C	11: 74,255,674 (GRCm39)	Y60H	probably damaging	Het
Or2n1d	T	G	17: 38,646,518 (GRCm39)	F157V	probably benign	Het
Or5m3b	A	G	2: 85,871,799 (GRCm39)	I47V	probably benign	Het
Otud7b	T	A	3: 96,043,821 (GRCm39)		probably benign	Het
Pde1a	A	T	2: 79,708,483 (GRCm39)	S312T	probably benign	Het
Piwil1	G	T	5: 128,818,045 (GRCm39)	R94L	probably damaging	Het
Pnma2	G	A	14: 67,154,503 (GRCm39)	W309*	probably null	Het
Ppef2	A	C	5: 92,376,599 (GRCm39)		probably null	Het
Rabac1	T	A	7: 24,669,392 (GRCm39)	Q212L	possibly damaging	Het
Rad51	T	C	2: 118,950,973 (GRCm39)		probably benign	Het
Rbm48	A	T	5: 3,641,853 (GRCm39)		probably benign	Het
Rft1	C	T	14: 30,399,761 (GRCm39)	S315L	probably benign	Het
Rgs13	C	T	1: 144,047,217 (GRCm39)	M1I	probably null	Het
Rhbg	A	C	3: 88,154,760 (GRCm39)	S215A	probably benign	Het
Rufy2	A	T	10: 62,837,990 (GRCm39)	N379I	probably damaging	Het
Slc17a1	T	C	13: 24,064,637 (GRCm39)	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,294,501 (GRCm39)	R308C	probably benign	Het
Smo	A	G	6: 29,753,570 (GRCm39)	T149A	probably benign	Het
Sqle	A	G	15: 59,187,934 (GRCm39)	K81E	probably benign	Het
Tfpi	A	G	2: 84,282,899 (GRCm39)		probably null	Het
Tnk2	A	G	16: 32,498,448 (GRCm39)	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,808 (GRCm39)	M1149K	probably benign	Het
Utrn	T	A	10: 12,603,502 (GRCm39)	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971 (GRCm39)	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,699,031 (GRCm39)	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,719,865 (GRCm39)	G184*	probably null	Het

Other mutations in Gtpbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Gtpbp6	APN	5	110,252,245 (GRCm39)	missense	probably benign	0.08
IGL03330:Gtpbp6	APN	5	110,254,929 (GRCm39)	missense	possibly damaging	0.95
R0457:Gtpbp6	UTSW	5	110,254,608 (GRCm39)	missense	probably damaging	1.00
R1424:Gtpbp6	UTSW	5	110,252,155 (GRCm39)	splice site	probably null
R2012:Gtpbp6	UTSW	5	110,252,790 (GRCm39)	missense	probably damaging	0.98
R2048:Gtpbp6	UTSW	5	110,254,931 (GRCm39)	missense	probably damaging	1.00
R4520:Gtpbp6	UTSW	5	110,255,725 (GRCm39)	missense	probably benign	0.41
R4629:Gtpbp6	UTSW	5	110,254,774 (GRCm39)	missense	possibly damaging	0.95
R4762:Gtpbp6	UTSW	5	110,252,186 (GRCm39)	missense	probably damaging	1.00
R5050:Gtpbp6	UTSW	5	110,252,567 (GRCm39)	unclassified	probably benign
R5174:Gtpbp6	UTSW	5	110,255,983 (GRCm39)	missense	possibly damaging	0.91
R5327:Gtpbp6	UTSW	5	110,254,770 (GRCm39)	missense	probably damaging	1.00
R5450:Gtpbp6	UTSW	5	110,254,991 (GRCm39)	missense	probably damaging	0.99
R5685:Gtpbp6	UTSW	5	110,252,805 (GRCm39)	missense	probably damaging	1.00
R5773:Gtpbp6	UTSW	5	110,254,757 (GRCm39)	missense	possibly damaging	0.94
R5793:Gtpbp6	UTSW	5	110,255,094 (GRCm39)	missense	probably benign	0.01
R7205:Gtpbp6	UTSW	5	110,252,478 (GRCm39)	missense	probably damaging	1.00
R7263:Gtpbp6	UTSW	5	110,251,915 (GRCm39)	missense	probably benign	0.01
R7623:Gtpbp6	UTSW	5	110,252,950 (GRCm39)	missense	probably damaging	1.00
R7790:Gtpbp6	UTSW	5	110,252,252 (GRCm39)	missense	probably damaging	1.00
R8348:Gtpbp6	UTSW	5	110,251,892 (GRCm39)	missense	possibly damaging	0.92
R8803:Gtpbp6	UTSW	5	110,255,186 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCTGAAAGTTGCCCTTGCC -3'
(R):5'- GGGGCGGGACTATCCTAAATTTG -3'

Sequencing Primer
(F):5'- AGTTGCCCTTGCCGAACAC -3'
(R):5'- AGCTTTGGATCATGGCCT -3'

Posted On

2016-03-17