Mutagenetix > Incidental Mutations

Incidental Mutation 'R5023:Gtpbp1'

391171

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp1

Ensembl Gene

ENSMUSG00000042535

Gene Name

GTP binding protein 1

Synonyms

GP-1, GTPBP1

MMRRC Submission

042614-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79690845-79721479 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79719221 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 637 (Q637L)

Ref Sequence

ENSEMBL: ENSMUSP00000043575 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000046463
AA Change: Q637L

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: Q637L

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

probably benign
Transcript: ENSMUST00000228991
AA Change: Q169L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000229583
AA Change: Q162L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230496

Predicted Effect

probably benign
Transcript: ENSMUST00000231095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231189

Meta Mutation Damage Score

0.0597

Coding Region Coverage

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

Validation Efficiency

98% (127/129)

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: 124 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,166,755	H739Q	probably benign	Het
Abca3	C	T	17: 24,374,300	R224C	probably damaging	Het
Abca8b	A	G	11: 109,974,988		probably null	Het
Adam1b	C	T	5: 121,501,159	V608M	probably damaging	Het
Ank2	A	G	3: 126,941,871		probably benign	Het
Ankrd17	A	C	5: 90,282,868	L1019R	probably damaging	Het
Arih1	T	C	9: 59,486,232	N39S	unknown	Het
Best3	G	A	10: 116,988,742	V38I	probably benign	Het
Bicc1	A	G	10: 70,947,883	S393P	possibly damaging	Het
C1d	T	A	11: 17,266,674	N135K	probably benign	Het
Cage1	G	T	13: 38,011,411	S778*	probably null	Het
Capn7	T	A	14: 31,352,426	V262E	probably damaging	Het
Ccdc190	A	G	1: 169,933,087	R95G	probably damaging	Het
Cd163	C	T	6: 124,325,288	T937I	probably damaging	Het
Cdh18	G	A	15: 23,259,666	S194N	probably damaging	Het
Clec4b2	A	T	6: 123,200,956	S77C	probably null	Het
Ctsw	T	A	19: 5,466,049	D237V	probably damaging	Het
Cyp2c68	G	A	19: 39,712,507	T289I	probably benign	Het
Cyp4f39	A	G	17: 32,481,104	Y133C	probably damaging	Het
Dlg5	T	C	14: 24,136,622	E1847G	probably damaging	Het
Dnah7a	C	A	1: 53,647,248	E248*	probably null	Het
Eef2kmt	T	A	16: 5,247,599	D248V	probably damaging	Het
Ewsr1	T	C	11: 5,088,054	T113A	possibly damaging	Het
Fbxo4	A	G	15: 3,977,756		probably null	Het
Fbxo43	A	T	15: 36,162,929	M44K	probably benign	Het
Fchsd1	A	G	18: 37,964,810	I340T	possibly damaging	Het
Fgf5	C	A	5: 98,262,015	A141E	probably damaging	Het
Gfm1	T	C	3: 67,473,544	V664A	probably damaging	Het
Glp2r	T	C	11: 67,741,032	T121A	possibly damaging	Het
Gm10803	A	C	2: 93,564,172	L96F	probably damaging	Het
Gm12169	T	A	11: 46,528,532	D58E	probably damaging	Het
Gm14569	T	C	X: 36,430,817	D1413G	probably benign	Het
Gm15455	T	C	1: 33,837,351		noncoding transcript	Het
Gm1818	G	C	12: 48,555,535		noncoding transcript	Het
Gm4907	G	A	X: 23,907,241	G327E	probably damaging	Het
Gm5155	A	T	7: 17,902,706	D236V	probably damaging	Het
Gm7030	A	G	17: 36,109,415		probably benign	Het
Gnb2	G	A	5: 137,529,940		probably null	Het
Gpc4	G	A	X: 52,074,563	R148C	probably damaging	Het
Gpx5	C	T	13: 21,288,745	V140I	probably damaging	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Hhat	A	T	1: 192,727,339	L138Q	probably damaging	Het
Hipk1	G	T	3: 103,777,507	T264N	probably damaging	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Hnf4g	G	T	3: 3,644,587	A144S	probably damaging	Het
Hook3	TAGAG	TAG	8: 26,032,019		probably null	Het
Ifi204	G	A	1: 173,751,740	T513I	possibly damaging	Het
Ino80b	G	T	6: 83,125,042	S26R	probably damaging	Het
Ints9	T	A	14: 64,980,228	L68H	probably damaging	Het
Isx	C	T	8: 74,892,714	T178I	probably benign	Het
Kel	A	G	6: 41,688,111	L255P	probably damaging	Het
Klf11	T	A	12: 24,655,359	S271T	probably benign	Het
Klhl20	A	C	1: 161,109,220		probably null	Het
Lama2	G	A	10: 27,190,504	T1127I	probably damaging	Het
Larp1b	T	A	3: 41,033,985	N81K	possibly damaging	Het
Lsm11	T	C	11: 45,944,839	D25G	probably damaging	Het
Map3k20	T	A	2: 72,402,345		probably benign	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Milr1	A	G	11: 106,766,965	D131G	possibly damaging	Het
Mybpc1	T	G	10: 88,543,774	D635A	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Ndufa7	A	G	17: 33,824,603		probably benign	Het
Ndufs3	C	A	2: 90,898,660	A161S	probably benign	Het
Neo1	T	C	9: 58,990,271	D134G	probably damaging	Het
Nme4	G	A	17: 26,093,668	T129I	probably benign	Het
Npffr2	A	T	5: 89,582,687	T159S	probably benign	Het
Nup153	A	T	13: 46,681,109		probably benign	Het
Olfr139	T	A	11: 74,045,055	D73V	probably damaging	Het
Olfr616	A	C	7: 103,565,171	M36R	possibly damaging	Het
Pate2	T	C	9: 35,686,111		probably benign	Het
Pcca	A	G	14: 122,790,398	N73D	probably damaging	Het
Pip5k1c	G	A	10: 81,310,889		probably null	Het
Pkhd1l1	A	T	15: 44,528,191	H1551L	probably benign	Het
Pkhd1l1	G	A	15: 44,582,227	M3768I	probably benign	Het
Ppa2	A	G	3: 133,370,434	M275V	probably benign	Het
Ptpn23	G	A	9: 110,388,556	T744I	probably benign	Het
Ptprv	A	T	1: 135,124,506		noncoding transcript	Het
Rad17	A	T	13: 100,645,063	H75Q	possibly damaging	Het
Rbm44	T	C	1: 91,169,098		probably null	Het
Rbpj	C	T	5: 53,649,415	R201W	probably damaging	Het
Rbpjl	C	A	2: 164,410,289	L215I	probably damaging	Het
Ror1	A	G	4: 100,425,932	E398G	probably benign	Het
Scamp3	T	A	3: 89,182,293		probably benign	Het
Selenot	CATGTATG	CATGTATGTATG	3: 58,588,453		probably null	Het
Siglec15	A	G	18: 78,048,675	C104R	probably damaging	Het
Sis	T	C	3: 72,934,122	I787V	probably benign	Het
Slc17a8	T	C	10: 89,576,560	D521G	probably benign	Het
Slc7a10	T	A	7: 35,197,355	M172K	possibly damaging	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Slitrk3	T	C	3: 73,050,648	T264A	probably benign	Het
Smg8	A	C	11: 87,086,137	V206G	probably damaging	Het
Smg9	A	G	7: 24,405,872	K137R	possibly damaging	Het
Srrm2	C	A	17: 23,819,317		probably benign	Het
Sult2a2	T	A	7: 13,734,860	Y84N	possibly damaging	Het
Syngr2	A	T	11: 117,812,510	I34F	probably benign	Het
Tank	G	A	2: 61,578,635		probably benign	Het
Tead4	T	C	6: 128,294,171		probably benign	Het
Tex36	A	T	7: 133,595,290	C33S	probably benign	Het
Timm21	C	A	18: 84,949,414	V112L	possibly damaging	Het
Tmem240	T	A	4: 155,739,674	L92Q	probably damaging	Het
Tmem268	C	G	4: 63,568,540	S100C	probably damaging	Het
Tmod3	G	A	9: 75,511,206	P183S	probably damaging	Het
Trappc10	G	T	10: 78,217,160	F260L	possibly damaging	Het
Trim16	A	T	11: 62,836,812	Y233F	probably benign	Het
Trmt112	T	C	19: 6,910,753	V91A	probably benign	Het
Ttc3	A	G	16: 94,429,359	E450G	probably benign	Het
Ttk	A	G	9: 83,863,541	D647G	probably damaging	Het
Ubash3b	A	G	9: 41,037,459	C187R	possibly damaging	Het
Vmn1r29	T	A	6: 58,308,067	Y257*	probably null	Het
Vmn1r33	T	C	6: 66,612,105	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vps16	A	G	2: 130,439,452	S235G	probably benign	Het
Vwde	T	C	6: 13,192,642	I421V	possibly damaging	Het
Xiap	T	C	X: 42,094,465	F23L	probably benign	Het
Xkr7	A	G	2: 153,054,380	T385A	probably benign	Het
Zbtb11	A	G	16: 56,006,065	Y819C	probably damaging	Het
Zfp112	A	G	7: 24,126,484	T624A	probably damaging	Het
Zfp592	A	G	7: 81,024,347	D353G	probably damaging	Het
Zfp62	T	A	11: 49,215,729	S216T	probably damaging	Het
Zfp677	A	T	17: 21,397,794	H371L	probably damaging	Het
Zfp780b	T	C	7: 27,963,448	K561E	possibly damaging	Het
Zfp936	G	A	7: 43,187,257	D31N	probably damaging	Het
Znfx1	T	C	2: 167,039,826	Y217C	probably damaging	Het
Zpbp	C	T	11: 11,415,248	E200K	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
R4925:Gtpbp1	UTSW	15	79715968	missense	probably benign	0.23
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
R8747:Gtpbp1	UTSW	15	79719281	missense

Predicted Primers

PCR Primer
(F):5'- CAGCTCAGACTTCATGCTACC -3'
(R):5'- TCTTAGCTGCATTGGGCCTC -3'

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

Posted On

2016-06-06