Mutagenetix > Incidental Mutation

Incidental Mutation 'R8348:Gtpbp6'

660425

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp6

Ensembl Gene

ENSMUSG00000033434

Gene Name

GTP binding protein 6 (putative)

Synonyms

pgpl, Pgbpll

MMRRC Submission

067732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8348 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110251841-110256063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110251892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 514 (H514Y)

Ref Sequence

ENSEMBL: ENSMUSP00000076458 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077220
AA Change: H514Y

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
AA Change: H514Y

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

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: ENSMUST00000140538

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	A	G	7: 37,894,384 (GRCm39)	Y139C	possibly damaging	Het
A430033K04Rik	A	G	5: 138,634,514 (GRCm39)	D43G	probably damaging	Het
Actn3	C	A	19: 4,915,361 (GRCm39)	V464L	possibly damaging	Het
Adamts15	C	T	9: 30,813,846 (GRCm39)	R773Q	probably benign	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Arhgef28	G	T	13: 98,190,375 (GRCm39)	P195T	possibly damaging	Het
Axdnd1	A	T	1: 156,245,854 (GRCm39)	D107E	probably benign	Het
Cdh23	C	T	10: 60,167,507 (GRCm39)	V1828M	probably benign	Het
Cep95	A	G	11: 106,704,593 (GRCm39)	T440A	possibly damaging	Het
Ctdp1	G	A	18: 80,493,325 (GRCm39)	A390V	probably benign	Het
Desi2	T	A	1: 178,083,906 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,320,273 (GRCm39)	M3932K	possibly damaging	Het
Dnah8	A	T	17: 30,955,121 (GRCm39)	Q2050L	probably damaging	Het
Etnppl	T	A	3: 130,423,141 (GRCm39)	M274K	probably benign	Het
Farp2	G	T	1: 93,504,614 (GRCm39)		probably null	Het
Fbxo46	G	A	7: 18,870,469 (GRCm39)	G363R	probably damaging	Het
Fiz1	A	G	7: 5,015,909 (GRCm39)	V27A	probably benign	Het
Fndc3b	T	A	3: 27,494,144 (GRCm39)	M994L	probably benign	Het
G3bp1	T	G	11: 55,389,457 (GRCm39)	D384E	possibly damaging	Het
Galnt2	C	T	8: 125,061,025 (GRCm39)	R306*	probably null	Het
Gle1	T	C	2: 29,832,556 (GRCm39)	Y304H	possibly damaging	Het
Gm3415	G	A	5: 146,493,407 (GRCm39)	R84H	probably benign	Het
Gm7694	A	C	1: 170,129,209 (GRCm39)	S107A	possibly damaging	Het
Gpc6	A	G	14: 117,673,232 (GRCm39)	D163G	probably damaging	Het
Hdgfl2	A	G	17: 56,406,370 (GRCm39)	E595G	possibly damaging	Het
Hoxc11	G	A	15: 102,863,186 (GRCm39)	G76S	possibly damaging	Het
Hoxc4	T	C	15: 102,943,440 (GRCm39)	C98R	possibly damaging	Het
Hydin	A	T	8: 111,329,878 (GRCm39)	I4871F	possibly damaging	Het
Ifnar1	A	G	16: 91,292,187 (GRCm39)	D176G	probably benign	Het
Inafm1	A	G	7: 16,007,055 (GRCm39)	I54T	probably damaging	Het
Inpp5b	G	A	4: 124,678,967 (GRCm39)	G458D	probably damaging	Het
Irs2	A	T	8: 11,054,974 (GRCm39)	S1153T	probably damaging	Het
Kcnj15	A	G	16: 95,096,609 (GRCm39)	Y77C	probably damaging	Het
Klhl35	C	A	7: 99,121,062 (GRCm39)	D10E	probably damaging	Het
Lef1	A	T	3: 130,906,461 (GRCm39)	M1L	probably benign	Het
Lima1	T	C	15: 99,678,753 (GRCm39)	T403A	probably benign	Het
Magi3	T	A	3: 103,958,531 (GRCm39)	N518I	probably damaging	Het
Mcoln3	T	C	3: 145,836,974 (GRCm39)	C269R	probably damaging	Het
Mis18a	A	T	16: 90,523,919 (GRCm39)	L81*	probably null	Het
Mug2	A	T	6: 122,049,192 (GRCm39)	K903*	probably null	Het
Nhsl3	G	A	4: 129,117,699 (GRCm39)	R322C	probably damaging	Het
Pex6	T	C	17: 47,034,039 (GRCm39)	S656P	probably benign	Het
Pgr	C	A	9: 8,922,602 (GRCm39)	Q591K	probably benign	Het
Phactr3	T	C	2: 177,897,935 (GRCm39)	S50P	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Sipa1l1	T	A	12: 82,443,045 (GRCm39)	N778K	probably benign	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
Slc5a7	A	G	17: 54,583,655 (GRCm39)	V545A	possibly damaging	Het
Snf8	A	G	11: 95,925,877 (GRCm39)	K13R	probably benign	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Tacc2	A	C	7: 130,225,019 (GRCm39)	K568T	possibly damaging	Het
Tnxb	C	A	17: 34,929,102 (GRCm39)	T2715K	possibly damaging	Het
Vegfb	T	C	19: 6,962,856 (GRCm39)	I140V	probably benign	Het
Vmn2r89	A	C	14: 51,692,548 (GRCm39)	D117A	possibly damaging	Het
Vps13c	C	T	9: 67,786,385 (GRCm39)	T284I	possibly damaging	Het
Wnk1	T	C	6: 119,906,960 (GRCm39)		probably null	Het
Wscd2	T	A	5: 113,710,371 (GRCm39)	H298Q	possibly damaging	Het
Zfp69	A	T	4: 120,787,834 (GRCm39)	C494S	probably damaging	Het
Zfp715	T	C	7: 42,949,361 (GRCm39)	T200A	possibly 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
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
R8803:Gtpbp6	UTSW	5	110,255,186 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGCCTCCATTGATGAACGG -3'
(R):5'- TGTACCATCTCTCAGCACGC -3'

Sequencing Primer
(F):5'- CGGATTTTGAACTAACGCACATGTG -3'
(R):5'- TGAGACCTCCCAGCATGC -3'

Posted On

2021-01-18