Mutagenetix > Incidental Mutation

Incidental Mutation 'R0799:Gtpbp1'

76550

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp1

Ensembl Gene

ENSMUSG00000042535

Gene Name

GTP binding protein 1

Synonyms

GTPBP1, GP-1

MMRRC Submission

038979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79575046-79605680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79600401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 445 (I445V)

Ref Sequence

ENSEMBL: ENSMUSP00000043575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046463] [ENSMUST00000230262] [ENSMUST00000231095]

AlphaFold

O08582

PDB Structure

Murine Alloreactive ScFv TCR-Peptide-MHC Class I Molecule Complex [X-RAY DIFFRACTION]
Mhc Class I H-2Kb molecule complexed with pKB1 peptide [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000046463
AA Change: I445V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: I445V

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
Pfam:GTP_EFTU	160	385	2.7e-24	PFAM
low complexity region	402	420	N/A	INTRINSIC
SCOP:d1exma2	491	575	4e-19	SMART
low complexity region	605	619	N/A	INTRINSIC
low complexity region	645	653	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000228991

Predicted Effect

probably benign
Transcript: ENSMUST00000229583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230023

Predicted Effect

probably benign
Transcript: ENSMUST00000230262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230496

Predicted Effect

probably benign
Transcript: ENSMUST00000231095

Meta Mutation Damage Score

0.4649

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for a targeted null mutation were viable and fertile with no obvious morphological or behavioral defects. In addition, no defects in macrophage function were observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,100,101 (GRCm39)	T33I	possibly damaging	Het
4930555F03Rik	A	G	8: 49,948,474 (GRCm39)		noncoding transcript	Het
Abcf3	T	C	16: 20,378,084 (GRCm39)	L538P	probably damaging	Het
Adamts6	T	C	13: 104,450,779 (GRCm39)	S321P	probably damaging	Het
Adgra2	G	A	8: 27,602,523 (GRCm39)	R362H	probably damaging	Het
AI597479	T	G	1: 43,150,330 (GRCm39)	S147A	probably benign	Het
Ajm1	A	G	2: 25,468,574 (GRCm39)	S446P	possibly damaging	Het
Ampd3	T	C	7: 110,399,904 (GRCm39)	F340L	probably damaging	Het
Atad3a	A	G	4: 155,831,927 (GRCm39)	V449A	probably damaging	Het
Bmal2	T	C	6: 146,724,751 (GRCm39)		probably benign	Het
Bpifa6	A	T	2: 153,834,192 (GRCm39)	D328V	probably benign	Het
Brca2	T	C	5: 150,483,658 (GRCm39)	S2903P	probably damaging	Het
Cct3	A	T	3: 88,206,652 (GRCm39)		probably null	Het
Cdk4	A	G	10: 126,900,863 (GRCm39)	T172A	probably damaging	Het
Chd5	A	G	4: 152,468,616 (GRCm39)	D1760G	probably damaging	Het
Chd7	A	G	4: 8,801,310 (GRCm39)		probably benign	Het
Crybb2	T	C	5: 113,210,037 (GRCm39)	I109V	probably benign	Het
Csmd3	A	G	15: 48,048,780 (GRCm39)		probably benign	Het
Dach1	G	T	14: 98,406,051 (GRCm39)	T232K	possibly damaging	Het
Dnlz	A	G	2: 26,241,485 (GRCm39)	V81A	possibly damaging	Het
Epb41l4b	A	G	4: 57,086,003 (GRCm39)	S191P	probably damaging	Het
Eps15l1	C	T	8: 73,099,929 (GRCm39)	D821N	probably damaging	Het
Fam186a	G	A	15: 99,839,893 (GRCm39)	P2117L	probably damaging	Het
Fam83d	T	A	2: 158,621,808 (GRCm39)	F173Y	probably damaging	Het
Gm9116	A	T	3: 93,817,772 (GRCm39)	R214S	probably benign	Het
H2-M2	G	A	17: 37,793,640 (GRCm39)	T122I	probably damaging	Het
Hgd	C	T	16: 37,448,971 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,135,004 (GRCm39)	Y380C	probably benign	Het
Hspa8	G	A	9: 40,715,137 (GRCm39)	G389R	probably damaging	Het
Htt	C	A	5: 34,975,097 (GRCm39)	D622E	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kdm4a	A	G	4: 118,004,189 (GRCm39)		probably null	Het
Map3k9	G	A	12: 81,769,043 (GRCm39)	P1025S	probably benign	Het
Or8b47	G	A	9: 38,435,437 (GRCm39)	M136I	probably benign	Het
Pabpc1l	C	A	2: 163,873,134 (GRCm39)	H135N	probably benign	Het
Pacsin2	A	T	15: 83,263,998 (GRCm39)	S346R	probably benign	Het
Pcdhb20	A	G	18: 37,638,938 (GRCm39)	Y488C	probably damaging	Het
Pkdcc	G	A	17: 83,531,347 (GRCm39)	C452Y	probably damaging	Het
Poglut1	T	C	16: 38,355,083 (GRCm39)		probably null	Het
Prss59	A	G	6: 40,905,533 (GRCm39)	M41T	probably damaging	Het
Pxk	T	C	14: 8,148,123 (GRCm38)	F409L	probably benign	Het
Pygm	G	A	19: 6,436,048 (GRCm39)		probably benign	Het
Rabep2	T	C	7: 126,037,896 (GRCm39)	S223P	probably damaging	Het
Rpp40	C	T	13: 36,086,034 (GRCm39)	R109H	probably benign	Het
Sbf2	T	C	7: 109,940,562 (GRCm39)	Y1266C	possibly damaging	Het
Slc5a4a	T	C	10: 76,012,368 (GRCm39)	V346A	probably benign	Het
Smpd3	G	T	8: 106,991,421 (GRCm39)	H377Q	possibly damaging	Het
Sppl2a	C	A	2: 126,762,227 (GRCm39)		probably benign	Het
Tas2r134	T	C	2: 51,518,385 (GRCm39)	I288T	probably benign	Het
Trim35	T	A	14: 66,546,650 (GRCm39)	H472Q	probably damaging	Het
Trpm5	C	A	7: 142,632,088 (GRCm39)	R907L	probably damaging	Het
Ube2e2	G	T	14: 18,630,393 (GRCm38)	S56*	probably null	Het
Vmn2r88	A	C	14: 51,651,959 (GRCm39)	R432S	possibly damaging	Het
Wdr24	A	G	17: 26,045,102 (GRCm39)	Y279C	probably damaging	Het
Wdr90	A	G	17: 26,079,104 (GRCm39)	V246A	probably benign	Het
Xrn2	T	A	2: 146,871,818 (GRCm39)	N385K	probably benign	Het
Zfp28	T	A	7: 6,387,182 (GRCm39)	S73T	possibly damaging	Het
Zfp345	T	C	2: 150,314,271 (GRCm39)	E422G	probably benign	Het
Zhx2	A	G	15: 57,684,709 (GRCm39)	E26G	probably benign	Het

Other mutations in Gtpbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Gtpbp1	APN	15	79,603,337 (GRCm39)	missense	possibly damaging	0.90
IGL01783:Gtpbp1	APN	15	79,600,398 (GRCm39)	missense	probably damaging	1.00
IGL01794:Gtpbp1	APN	15	79,600,447 (GRCm39)	missense	probably damaging	1.00
IGL01859:Gtpbp1	APN	15	79,603,341 (GRCm39)	missense	probably benign
IGL02245:Gtpbp1	APN	15	79,575,127 (GRCm39)	missense	probably benign	0.02
IGL02532:Gtpbp1	APN	15	79,604,278 (GRCm39)	missense	probably benign	0.05
IGL02730:Gtpbp1	APN	15	79,603,372 (GRCm39)	missense	probably benign
IGL02796:Gtpbp1	UTSW	15	79,601,186 (GRCm39)	missense	possibly damaging	0.83
R0525:Gtpbp1	UTSW	15	79,597,648 (GRCm39)	missense	probably benign	0.09
R0531:Gtpbp1	UTSW	15	79,604,292 (GRCm39)	missense	probably damaging	1.00
R0535:Gtpbp1	UTSW	15	79,591,933 (GRCm39)	missense	probably damaging	1.00
R0665:Gtpbp1	UTSW	15	79,597,648 (GRCm39)	missense	probably benign	0.09
R0760:Gtpbp1	UTSW	15	79,603,356 (GRCm39)	missense	probably damaging	0.99
R1445:Gtpbp1	UTSW	15	79,597,649 (GRCm39)	missense	possibly damaging	0.82
R1458:Gtpbp1	UTSW	15	79,591,930 (GRCm39)	missense	probably damaging	1.00
R1462:Gtpbp1	UTSW	15	79,592,086 (GRCm39)	missense	probably damaging	1.00
R1462:Gtpbp1	UTSW	15	79,592,086 (GRCm39)	missense	probably damaging	1.00
R1498:Gtpbp1	UTSW	15	79,603,222 (GRCm39)	splice site	probably null
R1567:Gtpbp1	UTSW	15	79,596,391 (GRCm39)	missense	probably damaging	0.98
R3028:Gtpbp1	UTSW	15	79,600,080 (GRCm39)	missense	possibly damaging	0.64
R4431:Gtpbp1	UTSW	15	79,600,398 (GRCm39)	missense	probably damaging	1.00
R4583:Gtpbp1	UTSW	15	79,600,152 (GRCm39)	missense	possibly damaging	0.64
R4854:Gtpbp1	UTSW	15	79,603,406 (GRCm39)	missense	probably benign
R4925:Gtpbp1	UTSW	15	79,600,169 (GRCm39)	missense	probably benign	0.23
R5023:Gtpbp1	UTSW	15	79,603,422 (GRCm39)	missense	possibly damaging	0.49
R5052:Gtpbp1	UTSW	15	79,600,170 (GRCm39)	missense	probably damaging	1.00
R5695:Gtpbp1	UTSW	15	79,596,375 (GRCm39)	splice site	probably null
R6009:Gtpbp1	UTSW	15	79,596,297 (GRCm39)	missense	probably damaging	1.00
R6089:Gtpbp1	UTSW	15	79,591,198 (GRCm39)	missense	probably benign	0.15
R7088:Gtpbp1	UTSW	15	79,603,483 (GRCm39)	missense
R7343:Gtpbp1	UTSW	15	79,575,243 (GRCm39)	missense	probably benign	0.03
R7383:Gtpbp1	UTSW	15	79,600,354 (GRCm39)	missense	probably damaging	1.00
R8747:Gtpbp1	UTSW	15	79,603,482 (GRCm39)	missense
R8863:Gtpbp1	UTSW	15	79,591,262 (GRCm39)	missense	possibly damaging	0.51
R8914:Gtpbp1	UTSW	15	79,600,393 (GRCm39)	missense	probably damaging	1.00
R8962:Gtpbp1	UTSW	15	79,601,929 (GRCm39)	missense	probably benign	0.15
R9150:Gtpbp1	UTSW	15	79,592,165 (GRCm39)	missense	probably damaging	1.00
R9269:Gtpbp1	UTSW	15	79,601,855 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCTGCTCAAGATGTTCCTCAACC -3'
(R):5'- TGCAGCCACAAGAACTGGAGAC -3'

Sequencing Primer
(F):5'- CCTGCTGAGTTCCAGATAGATGAC -3'
(R):5'- CTGGAGACAGCAGACTACG -3'

Posted On

2013-10-16