Mutagenetix > Incidental Mutation

Incidental Mutation 'R4854:Gtpbp1'

373829

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp1

Ensembl Gene

ENSMUSG00000042535

Gene Name

GTP binding protein 1

Synonyms

GTPBP1, GP-1

MMRRC Submission

042465-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4854 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79575046-79605680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79603406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 632 (S632P)

Ref Sequence

ENSEMBL: ENSMUSP00000043575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046259] [ENSMUST00000046463] [ENSMUST00000089311] [ENSMUST00000100439] [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 benign
Transcript: ENSMUST00000046259

SMART Domains

Protein: ENSMUSP00000047864
Gene: ENSMUSG00000042524

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
low complexity region	327	339	N/A	INTRINSIC
coiled coil region	418	453	N/A	INTRINSIC
coiled coil region	491	519	N/A	INTRINSIC
Pfam:Sad1_UNC	595	729	1.3e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000046463
AA Change: S632P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: S632P

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: ENSMUST00000089311

SMART Domains

Protein: ENSMUSP00000086724
Gene: ENSMUSG00000042524

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
transmembrane domain	194	216	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
coiled coil region	386	421	N/A	INTRINSIC
coiled coil region	459	487	N/A	INTRINSIC
Pfam:Sad1_UNC	563	697	1.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100439

SMART Domains

Protein: ENSMUSP00000098006
Gene: ENSMUSG00000042524

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC
low complexity region	325	337	N/A	INTRINSIC
coiled coil region	416	451	N/A	INTRINSIC
coiled coil region	489	517	N/A	INTRINSIC
Pfam:Sad1_UNC	593	727	1.2e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162392

Predicted Effect

unknown
Transcript: ENSMUST00000228991
AA Change: S164P

Predicted Effect

unknown
Transcript: ENSMUST00000229583
AA Change: S157P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230023

Predicted Effect

probably benign
Transcript: ENSMUST00000231095

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (103/105)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	T	A	9: 22,119,333 (GRCm39)		noncoding transcript	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abl1	T	C	2: 31,669,022 (GRCm39)	Y110H	probably damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Agbl3	G	A	6: 34,762,219 (GRCm39)	R73Q	probably damaging	Het
Agl	C	T	3: 116,572,267 (GRCm39)		probably null	Het
Amotl1	G	A	9: 14,504,747 (GRCm39)	Q191*	probably null	Het
Apbb1ip	A	G	2: 22,743,214 (GRCm39)	K349E	possibly damaging	Het
Arhgap10	G	A	8: 78,146,718 (GRCm39)	Q229*	probably null	Het
Aspm	C	T	1: 139,405,810 (GRCm39)	Q1566*	probably null	Het
B3gnt3	G	A	8: 72,145,517 (GRCm39)	R284C	probably damaging	Het
Bltp3b	T	G	10: 89,630,346 (GRCm39)	V382G	probably damaging	Het
Brd4	A	G	17: 32,439,211 (GRCm39)	V423A	probably damaging	Het
Btbd9	A	T	17: 30,743,839 (GRCm39)	I221N	probably damaging	Het
Camp	A	G	9: 109,676,519 (GRCm39)	V168A	probably benign	Het
Cd1d2	T	A	3: 86,896,556 (GRCm39)		probably null	Het
Cdkn2d	A	T	9: 21,202,223 (GRCm39)	V8D	probably benign	Het
Cimap1a	A	G	7: 140,429,375 (GRCm39)	Y168C	probably damaging	Het
Clec4g	T	C	8: 3,766,534 (GRCm39)	N256D	probably damaging	Het
Clspn	A	G	4: 126,469,743 (GRCm39)	I771V	probably benign	Het
Cntn6	A	G	6: 104,836,436 (GRCm39)	E862G	possibly damaging	Het
Col6a5	T	C	9: 105,775,950 (GRCm39)	T1702A	probably benign	Het
Dnah7a	T	C	1: 53,745,888 (GRCm39)		probably benign	Het
Dubr	T	C	16: 50,552,886 (GRCm39)		noncoding transcript	Het
Dusp26	G	A	8: 31,584,165 (GRCm39)	V91M	probably damaging	Het
Edc4	A	T	8: 106,614,557 (GRCm39)		probably benign	Het
F5	C	T	1: 164,019,715 (GRCm39)	A730V	probably damaging	Het
Foxf1	A	G	8: 121,813,553 (GRCm39)	T358A	probably benign	Het
Frem1	A	T	4: 82,834,995 (GRCm39)	N1810K	possibly damaging	Het
Galc	A	T	12: 98,223,136 (GRCm39)	F87I	probably damaging	Het
Gars1	A	G	6: 55,023,403 (GRCm39)	D66G	probably damaging	Het
Gbp11	G	A	5: 105,473,374 (GRCm39)	L460F	probably damaging	Het
Gdf7	T	C	12: 8,348,014 (GRCm39)	I436V	probably damaging	Het
Gigyf2	C	T	1: 87,282,135 (GRCm39)		probably benign	Het
Gm12239	T	C	11: 55,906,779 (GRCm39)		noncoding transcript	Het
Gm5592	A	C	7: 40,866,895 (GRCm39)		probably benign	Het
Gp2	A	T	7: 119,051,422 (GRCm39)	D264E	possibly damaging	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Grid1	A	G	14: 35,043,598 (GRCm39)	I318V	probably benign	Het
Grm2	C	A	9: 106,531,331 (GRCm39)	V53F	possibly damaging	Het
H2-M1	A	G	17: 36,980,950 (GRCm39)	F329L	probably benign	Het
Hecw1	T	A	13: 14,491,477 (GRCm39)	D92V	probably benign	Het
Hgh1	T	C	15: 76,253,382 (GRCm39)	L76P	probably damaging	Het
Idi2	C	A	13: 9,007,879 (GRCm39)	N63K	probably benign	Het
Ift122	A	G	6: 115,839,707 (GRCm39)	T25A	possibly damaging	Het
Itgb2l	A	T	16: 96,227,317 (GRCm39)	C575*	probably null	Het
Jup	A	G	11: 100,273,867 (GRCm39)	S225P	possibly damaging	Het
Kcng3	A	T	17: 83,895,735 (GRCm39)	C244S	probably damaging	Het
Klhl2	T	A	8: 65,287,111 (GRCm39)	M46L	possibly damaging	Het
Ksr1	A	T	11: 78,918,528 (GRCm39)	I460N	probably damaging	Het
Lama3	T	A	18: 12,544,599 (GRCm39)	F314Y	probably benign	Het
Lbp	T	C	2: 158,169,438 (GRCm39)	V421A	possibly damaging	Het
Lcp1	G	A	14: 75,437,929 (GRCm39)	G113D	probably damaging	Het
Lrp1b	A	T	2: 41,001,089 (GRCm39)	L2045H	probably damaging	Het
Mbd2	G	T	18: 70,701,806 (GRCm39)	D107Y	unknown	Het
Ms4a14	C	T	19: 11,287,733 (GRCm39)	V96I	possibly damaging	Het
N4bp2l2	C	T	5: 150,585,516 (GRCm39)	E155K	probably benign	Het
Nbeal2	T	G	9: 110,460,464 (GRCm39)	H1790P	probably damaging	Het
Nsg2	G	A	11: 31,981,806 (GRCm39)	G84R	probably benign	Het
Or10ad1b	A	C	15: 98,125,425 (GRCm39)	F34V	possibly damaging	Het
Or12e10	A	G	2: 87,640,934 (GRCm39)	T257A	probably damaging	Het
P2rx2	T	C	5: 110,488,793 (GRCm39)	N224D	probably damaging	Het
P2rx5	A	T	11: 73,062,605 (GRCm39)	E438V	probably benign	Het
Paip1	C	A	13: 119,586,425 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,714,505 (GRCm39)	V219E	probably damaging	Het
Ppp1r12b	T	C	1: 134,801,689 (GRCm39)	E509G	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,797 (GRCm39)	S4G	probably benign	Het
Ppp5c	T	C	7: 16,742,947 (GRCm39)	S224G	probably benign	Het
Prr30	T	G	14: 101,435,879 (GRCm39)	I228L	probably benign	Het
Purg	A	G	8: 33,877,342 (GRCm39)	I327V	possibly damaging	Het
Ralb	T	C	1: 119,403,645 (GRCm39)	T161A	probably benign	Het
Ripor3	T	C	2: 167,834,733 (GRCm39)	R253G	probably benign	Het
Scgb2b6	T	C	7: 31,317,257 (GRCm39)		noncoding transcript	Het
Setd5	G	T	6: 113,128,360 (GRCm39)	G1438W	probably damaging	Het
Sh3rf3	T	A	10: 58,649,545 (GRCm39)	L50Q	possibly damaging	Het
Sipa1l2	G	T	8: 126,200,340 (GRCm39)	T662K	probably damaging	Het
Skint5	A	G	4: 113,437,725 (GRCm39)	L1021S	unknown	Het
Slc22a23	T	C	13: 34,387,924 (GRCm39)	S391G	probably benign	Het
Slc4a5	G	A	6: 83,247,999 (GRCm39)	V402I	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Spink5	A	T	18: 44,153,908 (GRCm39)	*1018C	probably null	Het
Stag3	T	A	5: 138,294,956 (GRCm39)		probably null	Het
Tmem117	T	C	15: 94,992,569 (GRCm39)	F410L	probably damaging	Het
Tmod1	A	G	4: 46,090,920 (GRCm39)	K158E	possibly damaging	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Traf4	G	A	11: 78,052,346 (GRCm39)	Q100*	probably null	Het
Trpc4	A	G	3: 54,209,639 (GRCm39)	Y668C	probably damaging	Het
Ttn	T	A	2: 76,597,927 (GRCm39)	N11335I	possibly damaging	Het
Usp39	A	T	6: 72,302,665 (GRCm39)	V463E	probably benign	Het
Vmn1r6	A	C	6: 56,979,683 (GRCm39)	Y115S	probably benign	Het
Vmn2r44	A	G	7: 8,383,300 (GRCm39)	I98T	possibly damaging	Het
Zfp462	A	G	4: 55,010,668 (GRCm39)	Y878C	probably damaging	Het
Zfp474	T	C	18: 52,771,503 (GRCm39)	I52T	possibly damaging	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
R0799:Gtpbp1	UTSW	15	79,600,401 (GRCm39)	missense	probably damaging	1.00
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
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'- GACTTCATGCTACCTACTTGGC -3'
(R):5'- TCTTAGCTGCATTGGGCCTC -3'

Sequencing Primer
(F):5'- ACCTACTTGGCCTCCACAG -3'
(R):5'- GCCTACATAGTGAATTTCAGGCCAG -3'

Posted On

2016-03-01