Mutagenetix > Incidental Mutations

Incidental Mutation 'R4925:Gtpbp1'

378989

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp1

Ensembl Gene

ENSMUSG00000042535

Gene Name

GTP binding protein 1

Synonyms

GP-1, GTPBP1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4925 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

79690845-79721479 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 79715968 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 399 (I399L)

Ref Sequence

ENSEMBL: ENSMUSP00000043575 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000046463
AA Change: I399L

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: I399L

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,425,714	C173*	probably null	Het
2210407C18Rik	T	A	11: 58,610,687	T157S	probably damaging	Het
3425401B19Rik	T	A	14: 32,663,180	H276L	possibly damaging	Het
4930430A15Rik	T	C	2: 111,218,616	K273E	probably benign	Het
Adam21	T	G	12: 81,560,389	M200L	probably benign	Het
Adamts3	A	T	5: 89,684,323	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,602,299		probably null	Het
Atp8b2	A	G	3: 89,946,623		probably null	Het
Brd8	T	C	18: 34,607,335	T552A	probably benign	Het
Btaf1	A	G	19: 37,011,333	S1826G	probably benign	Het
C330027C09Rik	T	C	16: 49,016,363		probably null	Het
Ccdc163	A	G	4: 116,711,331	E77G	possibly damaging	Het
Ces2g	A	G	8: 104,964,894	R194G	probably benign	Het
Cln8	A	G	8: 14,895,004	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,674,795	L1391F	probably damaging	Het
Col16a1	G	A	4: 130,054,176	D230N	probably damaging	Het
Crhbp	C	A	13: 95,443,810	G87V	possibly damaging	Het
Cyp3a16	C	T	5: 145,452,834	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,495,936	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,585,290	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 43,979,292	D219E	probably damaging	Het
Fgfr2	A	T	7: 130,185,272	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,453,533	V363M	probably damaging	Het
Foxb1	T	A	9: 69,760,155	E31V	probably damaging	Het
Galnt9	T	C	5: 110,544,739	V13A	possibly damaging	Het
Ghrl	T	C	6: 113,716,257	D77G	probably damaging	Het
Gm21731	A	G	13: 120,240,848	Y60C	probably damaging	Het
Gpr85	A	G	6: 13,835,978	V309A	probably benign	Het
Greb1	T	C	12: 16,681,471	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,669,823	N404Y	probably damaging	Het
Hectd4	T	C	5: 121,322,690	S911P	possibly damaging	Het
Igkc	A	T	6: 70,726,536	K34*	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Iqgap1	T	A	7: 80,765,317	I149F	probably damaging	Het
Lama1	C	T	17: 67,794,314	A1934V	probably benign	Het
Lrp1	C	A	10: 127,575,075	E1415*	probably null	Het
Macf1	A	C	4: 123,526,652	C270G	probably benign	Het
Marveld3	A	G	8: 109,948,311	V291A	probably benign	Het
Med23	T	C	10: 24,910,747	F917S	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Ncan	A	T	8: 70,109,954	D551E	probably benign	Het
Olfr1269	T	A	2: 90,118,777	T274S	probably damaging	Het
Olfr382	A	T	11: 73,517,172	I9N	possibly damaging	Het
Olfr649	T	C	7: 104,190,180	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,878,818	W34R	probably damaging	Het
Plekha7	A	G	7: 116,158,128	F529S	probably damaging	Het
Ppl	T	A	16: 5,104,982	D215V	probably damaging	Het
Pramef20	A	T	4: 144,377,932	M1K	probably null	Het
Prdm1	T	A	10: 44,440,169	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,607,613	D124V	probably damaging	Het
Ptprc	C	A	1: 138,099,497	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,412,679	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,812,277	Y657F	probably benign	Het
Rrn3	T	C	16: 13,799,972	C360R	probably damaging	Het
Scarb1	T	C	5: 125,297,299	T257A	probably damaging	Het
Serpinb2	T	A	1: 107,515,489	M6K	probably benign	Het
Slco4a1	T	C	2: 180,472,056	Y429H	probably benign	Het
St13	G	C	15: 81,399,585	R4G	probably benign	Het
Taar3	T	A	10: 23,950,543	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,618,651	N285K	probably benign	Het
Tnni2	A	T	7: 142,442,693	E4V	probably benign	Het
Tnpo2	A	T	8: 85,050,025	I454F	probably damaging	Het
Tpr	T	G	1: 150,432,565	H1690Q	probably benign	Het
Trav18	T	C	14: 53,831,120	S6P	probably benign	Het
Trf	T	C	9: 103,219,246	N25S	probably benign	Het
Vmn1r59	T	C	7: 5,454,116	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,137,471	M1V	probably null	Het
Wdr64	T	C	1: 175,724,702		probably null	Het
Wdr73	T	C	7: 80,893,195	S222G	probably benign	Het

Other mutations in Gtpbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Gtpbp1	APN	15	79719136	missense	possibly damaging	0.90
IGL01783:Gtpbp1	APN	15	79716197	missense	probably damaging	1.00
IGL01794:Gtpbp1	APN	15	79716246	missense	probably damaging	1.00
IGL01859:Gtpbp1	APN	15	79719140	missense	probably benign
IGL02245:Gtpbp1	APN	15	79690926	missense	probably benign	0.02
IGL02532:Gtpbp1	APN	15	79720077	missense	probably benign	0.05
IGL02730:Gtpbp1	APN	15	79719171	missense	probably benign
IGL02796:Gtpbp1	UTSW	15	79716985	missense	possibly damaging	0.83
R0525:Gtpbp1	UTSW	15	79713447	missense	probably benign	0.09
R0531:Gtpbp1	UTSW	15	79720091	missense	probably damaging	1.00
R0535:Gtpbp1	UTSW	15	79707732	missense	probably damaging	1.00
R0665:Gtpbp1	UTSW	15	79713447	missense	probably benign	0.09
R0760:Gtpbp1	UTSW	15	79719155	missense	probably damaging	0.99
R0799:Gtpbp1	UTSW	15	79716200	missense	probably damaging	1.00
R1445:Gtpbp1	UTSW	15	79713448	missense	possibly damaging	0.82
R1458:Gtpbp1	UTSW	15	79707729	missense	probably damaging	1.00
R1462:Gtpbp1	UTSW	15	79707885	missense	probably damaging	1.00
R1462:Gtpbp1	UTSW	15	79707885	missense	probably damaging	1.00
R1498:Gtpbp1	UTSW	15	79719021	splice site	probably null
R1567:Gtpbp1	UTSW	15	79712190	missense	probably damaging	0.98
R3028:Gtpbp1	UTSW	15	79715879	missense	possibly damaging	0.64
R4431:Gtpbp1	UTSW	15	79716197	missense	probably damaging	1.00
R4583:Gtpbp1	UTSW	15	79715951	missense	possibly damaging	0.64
R4854:Gtpbp1	UTSW	15	79719205	missense	probably benign
R5023:Gtpbp1	UTSW	15	79719221	missense	possibly damaging	0.49
R5052:Gtpbp1	UTSW	15	79715969	missense	probably damaging	1.00
R5695:Gtpbp1	UTSW	15	79712174	splice site	probably null
R6009:Gtpbp1	UTSW	15	79712096	missense	probably damaging	1.00
R6089:Gtpbp1	UTSW	15	79706997	missense	probably benign	0.15
R7088:Gtpbp1	UTSW	15	79719282	missense
R7343:Gtpbp1	UTSW	15	79691042	missense	probably benign	0.03
R7383:Gtpbp1	UTSW	15	79716153	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCTCGAGACAAGCAGGTCAC -3'
(R):5'- TCGTTCAGTTTGATCAGGCCC -3'

Sequencing Primer
(F):5'- ACTAGGTGACAGATGGCAGTCTTG -3'
(R):5'- AGTTTGATCAGGCCCCGCAG -3'

Posted On

2016-04-15