Mutagenetix > Incidental Mutation

Incidental Mutation 'R5050:Gtpbp6'

394588

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp6

Ensembl Gene

ENSMUSG00000033434

Gene Name

GTP binding protein 6 (putative)

Synonyms

pgpl, Pgbpll

MMRRC Submission

042640-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5050 (G1)

Quality Score

111

Status

Validated

Chromosome

Chromosomal Location

110251841-110256063 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 110252567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077220] [ENSMUST00000086687] [ENSMUST00000112534] [ENSMUST00000140538] [ENSMUST00000135409] [ENSMUST00000141066]

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000199496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149227

Predicted Effect

probably benign
Transcript: ENSMUST00000140538

Predicted Effect

probably benign
Transcript: ENSMUST00000135409

SMART Domains

Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434

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: ENSMUST00000141066

SMART Domains

Protein: ENSMUSP00000119248
Gene: ENSMUSG00000064247

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	1	97	6e-20	SMART
PDB:1AOD\|A	7	95	3e-6	PDB
Blast:PLCXc	15	99	5e-7	BLAST

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,822 (GRCm39)		probably benign	Het
Ap3m1	A	G	14: 21,094,843 (GRCm39)	I108T	probably benign	Het
Apobec1	T	C	6: 122,568,061 (GRCm39)	M1V	probably null	Het
Aqr	A	T	2: 113,943,090 (GRCm39)	L1161*	probably null	Het
Aqr	A	T	2: 114,000,506 (GRCm39)		probably null	Het
Arhgef37	A	G	18: 61,637,402 (GRCm39)	I420T	probably benign	Het
Cacna1g	C	T	11: 94,350,541 (GRCm39)	E435K	probably damaging	Het
Card6	G	T	15: 5,129,858 (GRCm39)	H513N	probably benign	Het
Ccdc158	A	C	5: 92,814,738 (GRCm39)	F29L	probably benign	Het
Ccr6	T	C	17: 8,474,936 (GRCm39)	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 179,900,018 (GRCm39)	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654 (GRCm39)	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,233 (GRCm39)	F16S	probably benign	Het
Cdkl1	T	C	12: 69,804,014 (GRCm39)	K141R	probably damaging	Het
Cfhr4	T	A	1: 139,664,578 (GRCm39)	I494F	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,704,184 (GRCm39)	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,922,500 (GRCm39)	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,536,255 (GRCm39)	D2596A	probably benign	Het
Dync1li2	T	C	8: 105,164,073 (GRCm39)	K151E	probably damaging	Het
Eno4	C	T	19: 58,943,928 (GRCm39)	H297Y	probably benign	Het
Epg5	T	A	18: 78,019,156 (GRCm39)	D976E	possibly damaging	Het
Fhip2a	T	A	19: 57,371,602 (GRCm39)	F571L	probably damaging	Het
Gm4553	C	A	7: 141,718,773 (GRCm39)	K218N	unknown	Het
Gpld1	A	T	13: 25,146,739 (GRCm39)	T234S	probably benign	Het
Gucy2g	T	C	19: 55,229,367 (GRCm39)	E101G	probably benign	Het
Gvin3	T	C	7: 106,196,179 (GRCm39)		noncoding transcript	Het
Hira	G	A	16: 18,744,609 (GRCm39)	R442K	possibly damaging	Het
Hrh3	A	G	2: 179,742,350 (GRCm39)	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,248,176 (GRCm39)	F95Y	probably damaging	Het
Iqgap3	T	G	3: 87,997,493 (GRCm39)	V223G	probably damaging	Het
Itpk1	T	C	12: 102,671,069 (GRCm39)	T3A	probably damaging	Het
Jag1	A	G	2: 136,927,074 (GRCm39)	V895A	possibly damaging	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Large2	A	T	2: 92,198,124 (GRCm39)	L282Q	probably benign	Het
Lgmn	A	G	12: 102,369,680 (GRCm39)		probably null	Het
Lrp4	A	T	2: 91,322,767 (GRCm39)	I1119F	probably benign	Het
Map3k19	T	C	1: 127,751,299 (GRCm39)	H684R	probably benign	Het
Mier3	C	T	13: 111,851,107 (GRCm39)	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,213,685 (GRCm39)	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,929,932 (GRCm39)	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,473,670 (GRCm39)	I1568V	probably benign	Het
Or52e8b	T	A	7: 104,673,594 (GRCm39)	I198F	probably damaging	Het
Plch2	C	T	4: 155,127,766 (GRCm39)		probably benign	Het
Plek	T	C	11: 16,945,216 (GRCm39)	D38G	probably damaging	Het
Polr2f	A	G	15: 79,028,862 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,685,645 (GRCm39)	S38P	probably benign	Het
Sf1	C	T	19: 6,422,589 (GRCm39)	T248I	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Sharpin	A	T	15: 76,232,530 (GRCm39)	L160H	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Syn3	T	C	10: 86,243,532 (GRCm39)	T136A	probably benign	Het
Tcam1	G	A	11: 106,176,278 (GRCm39)	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,120,325 (GRCm39)	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,544,995 (GRCm39)	L2337P	probably damaging	Het
Ttn	G	A	2: 76,715,155 (GRCm39)		probably benign	Het
Tysnd1	T	A	10: 61,532,050 (GRCm39)	I234N	probably damaging	Het
Vmn2r51	T	C	7: 9,834,349 (GRCm39)	K230E	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
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
R4878:Gtpbp6	UTSW	5	110,255,177 (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'- TTGCTGTGAACCTCCAACGC -3'
(R):5'- AGCCTGATCCATGCGTTCTC -3'

Sequencing Primer
(F):5'- TGTGAACCTCCAACGCTGACTC -3'
(R):5'- ACTGGAGGACGTGGCTTACTC -3'

Posted On

2016-06-15