Mutagenetix > Incidental Mutation

Incidental Mutation 'R7088:Gtpbp1'

550047

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp1

Ensembl Gene

ENSMUSG00000042535

Gene Name

GTP binding protein 1

Synonyms

GP-1, GTPBP1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79690845-79721479 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79719282 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 182 (D182E)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046259] [ENSMUST00000046463] [ENSMUST00000089311] [ENSMUST00000100439] [ENSMUST00000231095]

AlphaFold

O08582

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

SMART Domains

Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535

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

probably benign
Transcript: ENSMUST00000228991

Predicted Effect

probably benign
Transcript: ENSMUST00000231095

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,440,406	E48*	probably null	Het
2410089E03Rik	C	T	15: 8,218,947	T1660M	probably benign	Het
5830473C10Rik	T	A	5: 90,572,750	L260*	probably null	Het
Acaca	T	C	11: 84,278,957		probably null	Het
AI314180	A	T	4: 58,849,766	L458I	possibly damaging	Het
Alkbh3	A	G	2: 94,004,752	S83P	possibly damaging	Het
Ammecr1l	T	C	18: 31,771,819	S38P	probably benign	Het
Armc10	T	C	5: 21,653,392	V145A	probably damaging	Het
BC048671	A	G	6: 90,303,240	K46R	probably null	Het
C2cd3	A	G	7: 100,416,181	T347A		Het
C8b	G	T	4: 104,793,343	E449D	probably benign	Het
Camk4	T	C	18: 32,939,531	S46P	probably benign	Het
Ccdc113	G	A	8: 95,538,105	R81H	probably benign	Het
Cd177	A	T	7: 24,745,133	C674*	probably null	Het
Cdc6	T	A	11: 98,919,239	V458D	probably damaging	Het
Cenpo	C	T	12: 4,215,307	E238K	probably benign	Het
Ckap2	G	T	8: 22,169,866	P533Q	possibly damaging	Het
Cma1	T	A	14: 55,943,816	H44L	probably damaging	Het
Cmya5	A	T	13: 93,091,864	S2239T	possibly damaging	Het
Cntnap5b	T	A	1: 100,160,077	I141N	probably damaging	Het
Col6a4	T	A	9: 106,000,686	T2031S	possibly damaging	Het
Cxcr5	T	A	9: 44,513,386	T325S	possibly damaging	Het
Dhx32	A	T	7: 133,742,688	L204Q	probably damaging	Het
Dse	A	G	10: 34,153,889	Y402H	probably damaging	Het
Exoc6	G	T	19: 37,577,010	C178F	probably damaging	Het
Fam149a	A	G	8: 45,350,545	V384A	probably benign	Het
Fcrl5	T	C	3: 87,457,834	*597Q	probably null	Het
Fer1l6	A	G	15: 58,564,050	K431E	possibly damaging	Het
Fmo3	T	A	1: 162,968,865	H46L	probably benign	Het
Gcm2	T	C	13: 41,103,364	D303G	probably damaging	Het
Gk2	T	C	5: 97,455,675	M435V	probably damaging	Het
Gli1	C	A	10: 127,335,999	M295I	probably damaging	Het
Gm11444	G	T	11: 85,847,036	H109Q		Het
Hnf4g	A	T	3: 3,648,125		probably null	Het
Hsf2	G	A	10: 57,512,092	R483H	probably damaging	Het
Kcnq4	C	T	4: 120,704,399	R491H	probably damaging	Het
Lama3	T	C	18: 12,582,545	V1686A	possibly damaging	Het
Larp6	A	G	9: 60,724,355	K137E	probably damaging	Het
Mboat1	T	G	13: 30,195,789		probably null	Het
Mdh1	T	C	11: 21,558,484	Y286C	probably damaging	Het
Mga	G	T	2: 119,961,936	K2607N	probably damaging	Het
Morf4l1	C	A	9: 90,097,380	V183F	possibly damaging	Het
Mroh4	G	A	15: 74,626,144	R196W	probably benign	Het
Muc16	C	A	9: 18,592,680	M6438I	probably damaging	Het
Myom3	A	G	4: 135,803,278	Y1167C	probably damaging	Het
Neurl3	T	C	1: 36,269,221	E170G	possibly damaging	Het
Nsd3	T	C	8: 25,666,034	I539T	probably benign	Het
Nup155	T	C	15: 8,156,693	F1313S	probably benign	Het
Nxn	A	T	11: 76,263,148	V287E	possibly damaging	Het
Olfr1253	G	A	2: 89,752,099	T243I	probably benign	Het
Olfr1354	A	C	10: 78,917,759	L306F	probably benign	Het
Olfr891	C	A	9: 38,180,452	V124F	probably damaging	Het
Pax6	A	G	2: 105,696,408	N220D	probably benign	Het
Pcdha11	G	A	18: 37,005,417	R33H	probably benign	Het
Pdzd8	A	G	19: 59,344,957	F211L	probably damaging	Het
Pear1	C	A	3: 87,754,638	V477F	possibly damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583		probably null	Het
Pidd1	A	T	7: 141,440,487	V539E	probably damaging	Het
Ptprg	A	T	14: 12,207,365	I878F	probably damaging	Het
Rabepk	T	C	2: 34,785,699	T140A	probably benign	Het
Ranbp2	G	T	10: 58,463,906	R454L	probably damaging	Het
Rnf123	C	T	9: 108,058,536	R943Q	probably null	Het
Sash1	G	A	10: 8,729,717	R970*	probably null	Het
Serpinb2	C	A	1: 107,524,692	F333L	probably damaging	Het
Shank3	T	A	15: 89,503,525		probably null	Het
Slc9a2	A	C	1: 40,726,379	I310L	probably damaging	Het
Strip2	T	A	6: 29,920,533		probably null	Het
Thoc3	T	C	13: 54,463,752	T241A	probably damaging	Het
Tmem139	T	A	6: 42,263,265	V2E	probably damaging	Het
Usp24	G	T	4: 106,387,546	V1233F	probably damaging	Het
Vnn1	A	G	10: 23,900,747	Q332R	probably benign	Het
Wac	T	A	18: 7,921,455	H530Q	probably damaging	Het
Wdr35	T	A	12: 8,978,659	N92K	probably benign	Het
Zbtb18	T	G	1: 177,447,254	L60R	probably damaging	Het
Zfp184	T	A	13: 21,959,992	C623S	probably damaging	Het
Zfp292	A	G	4: 34,806,796	Y2088H	probably damaging	Het
Zfp975	G	T	7: 42,662,672	S172R	probably benign	Het
Zswim2	G	A	2: 83,915,727	Q456*	probably null	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
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
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
R8863:Gtpbp1	UTSW	15	79707061	missense	possibly damaging	0.51
R8914:Gtpbp1	UTSW	15	79716192	missense	probably damaging	1.00
R8962:Gtpbp1	UTSW	15	79717728	missense	probably benign	0.15
R9150:Gtpbp1	UTSW	15	79707964	missense	probably damaging	1.00
R9269:Gtpbp1	UTSW	15	79717654	missense	probably damaging	1.00

Predicted Primers

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

Sequencing Primer
(F):5'- GTCCCCTGAGCAAACGAGAG -3'
(R):5'- TGTGACCTCAGCATCATAAGAGCTG -3'

Posted On

2019-05-15