Mutagenetix > Incidental Mutation

Incidental Mutation 'R4629:Gtpbp6'

349024

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp6

Ensembl Gene

ENSMUSG00000033434

Gene Name

GTP binding protein 6 (putative)

Synonyms

pgpl, Pgbpll

MMRRC Submission

041894-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110251841-110256063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110254774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 100 (V100L)

Ref Sequence

ENSEMBL: ENSMUSP00000117817 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077220
AA Change: V163L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
AA Change: V163L

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: 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

noncoding transcript
Transcript: ENSMUST00000131774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131918

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135409
AA Change: V100L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434
AA Change: V100L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144089

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	T	C	9: 114,108,419 (GRCm39)		noncoding transcript	Het
Abca6	T	C	11: 110,121,375 (GRCm39)		probably null	Het
Adam22	A	G	5: 8,282,663 (GRCm39)	S111P	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alg10b	C	T	15: 90,111,948 (GRCm39)	A264V	probably benign	Het
Angpt1	T	A	15: 42,301,796 (GRCm39)	Y404F	probably benign	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Asic5	T	A	3: 81,913,811 (GRCm39)	Y162N	probably damaging	Het
Cacna2d2	A	T	9: 107,404,521 (GRCm39)	E1104V	probably damaging	Het
Cad	G	A	5: 31,227,639 (GRCm39)	V1263I	probably damaging	Het
Cdc20	T	C	4: 118,290,761 (GRCm39)	E413G	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cubn	T	A	2: 13,318,790 (GRCm39)		probably null	Het
Cx3cr1	T	C	9: 119,880,730 (GRCm39)	N224S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fez2	C	T	17: 78,710,183 (GRCm39)	S202N	probably benign	Het
Fras1	A	G	5: 96,924,593 (GRCm39)	N3678S	probably benign	Het
Glyr1	A	G	16: 4,854,907 (GRCm39)	V57A	possibly damaging	Het
Gm5617	T	A	9: 48,407,187 (GRCm39)	L107Q	possibly damaging	Het
Gpnmb	A	G	6: 49,027,994 (GRCm39)	D401G	possibly damaging	Het
Gucy1a1	A	G	3: 82,004,931 (GRCm39)	V618A	probably damaging	Het
H6pd	A	T	4: 150,080,803 (GRCm39)	M14K	probably benign	Het
Hectd4	A	G	5: 121,435,266 (GRCm39)	M993V	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama1	A	G	17: 68,112,355 (GRCm39)		probably null	Het
Lgr6	T	C	1: 135,032,670 (GRCm39)	Y70C	probably damaging	Het
Lipg	T	A	18: 75,081,107 (GRCm39)	K325*	probably null	Het
Lrrc43	T	C	5: 123,637,583 (GRCm39)	L250P	probably damaging	Het
Lyz1	C	T	10: 117,127,041 (GRCm39)	R65H	probably benign	Het
Marchf10	T	A	11: 105,280,664 (GRCm39)	L540F	probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Myh1	A	G	11: 67,100,119 (GRCm39)	K646R	probably benign	Het
Nf2	A	T	11: 4,798,915 (GRCm39)	V24E	probably damaging	Het
Nup210l	T	C	3: 90,075,182 (GRCm39)	S831P	probably benign	Het
Nup210l	C	T	3: 90,098,181 (GRCm39)	R1378*	probably null	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Palb2	A	C	7: 121,727,189 (GRCm39)	I227S	possibly damaging	Het
Pate3	A	T	9: 35,557,453 (GRCm39)	C68S	probably damaging	Het
Pcdha12	T	A	18: 37,154,926 (GRCm39)	N548K	probably damaging	Het
Prdm10	C	T	9: 31,248,612 (GRCm39)	Q345*	probably null	Het
Ptx4	A	T	17: 25,341,737 (GRCm39)	N71Y	probably damaging	Het
Rab42	C	T	4: 132,030,548 (GRCm39)	R34Q	probably benign	Het
Rergl	A	G	6: 139,478,850 (GRCm39)	V8A	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rpia	A	G	6: 70,743,578 (GRCm39)	M291T	possibly damaging	Het
Rplp0	G	A	5: 115,699,482 (GRCm39)		probably null	Het
Rrp12	A	T	19: 41,871,955 (GRCm39)	I443N	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Saxo1	T	C	4: 86,406,064 (GRCm39)	Y45C	probably damaging	Het
Sec24a	A	T	11: 51,612,640 (GRCm39)		probably null	Het
Setdb2	A	G	14: 59,646,808 (GRCm39)	V585A	probably benign	Het
Sik1	T	C	17: 32,068,581 (GRCm39)	E347G	probably benign	Het
Srbd1	T	C	17: 86,428,100 (GRCm39)	T378A	probably damaging	Het
Tacr1	A	G	6: 82,380,861 (GRCm39)	T91A	probably benign	Het
Tas2r135	T	A	6: 42,383,160 (GRCm39)	M233K	probably benign	Het
Tfg	A	T	16: 56,533,039 (GRCm39)	M40K	probably damaging	Het
Tmem35b	C	T	4: 127,022,796 (GRCm39)	P133S	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Trpv3	A	T	11: 73,172,615 (GRCm39)	K253N	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc13a	A	G	8: 72,106,097 (GRCm39)	M669T	possibly damaging	Het
Vmn1r61	T	A	7: 5,614,249 (GRCm39)	I22F	probably benign	Het
Vmn2r26	A	T	6: 124,038,150 (GRCm39)	Q575L	possibly damaging	Het
Vmn2r81	A	T	10: 79,103,276 (GRCm39)	E156D	probably damaging	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wasl	T	C	6: 24,637,680 (GRCm39)	R71G	probably damaging	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfp827	G	A	8: 79,787,011 (GRCm39)	R59Q	probably damaging	Het
Zfp87	A	G	13: 74,520,512 (GRCm39)	C189R	probably damaging	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
R4762:Gtpbp6	UTSW	5	110,252,186 (GRCm39)	missense	probably damaging	1.00
R4878:Gtpbp6	UTSW	5	110,255,177 (GRCm39)	unclassified	probably benign
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'- GGTGAATCTGTCGAACACACG -3'
(R):5'- ATGGACCCTTGTGTCCTCAC -3'

Sequencing Primer
(F):5'- TGAATCTGTCGAACACACGCAAAC -3'
(R):5'- TTCGGCAAGGGCAACTTTCAG -3'

Posted On

2015-10-08