Mutagenetix > Incidental Mutation

Incidental Mutation 'R0531:Gtpbp1'

49186

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp1

Ensembl Gene

ENSMUSG00000042535

Gene Name

GTP binding protein 1

Synonyms

GTPBP1, GP-1

MMRRC Submission

038723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0531 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

79575046-79605680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79604292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 667 (G667S)

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 damaging
Transcript: ENSMUST00000046463
AA Change: G667S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: G667S

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: G199S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230023

Predicted Effect

probably benign
Transcript: ENSMUST00000231095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230496

Meta Mutation Damage Score

0.0658

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (69/69)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,892,127 (GRCm39)	N130D	probably benign	Het
Acot6	C	A	12: 84,148,075 (GRCm39)	D110E	probably benign	Het
Agrn	T	A	4: 156,263,891 (GRCm39)	N124I	probably benign	Het
Astn1	G	T	1: 158,427,959 (GRCm39)	G710V	probably damaging	Het
Bcar3	T	C	3: 122,220,148 (GRCm39)	V15A	probably benign	Het
Best3	T	C	10: 116,840,280 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,090,974 (GRCm39)	I743N	probably damaging	Het
Cenpa	T	C	5: 30,829,837 (GRCm39)	F39L	possibly damaging	Het
Cfap44	A	T	16: 44,221,789 (GRCm39)	M1L	probably benign	Het
Chrnd	A	G	1: 87,122,541 (GRCm39)	I107M	probably damaging	Het
Col11a2	A	G	17: 34,277,351 (GRCm39)		probably benign	Het
Dnah10	G	A	5: 124,889,787 (GRCm39)		probably null	Het
Entpd8	A	G	2: 24,974,781 (GRCm39)	Y404C	probably damaging	Het
Fam118a	T	C	15: 84,932,633 (GRCm39)	I125T	possibly damaging	Het
Fam161a	G	A	11: 22,970,298 (GRCm39)	E159K	possibly damaging	Het
Fkbp5	A	T	17: 28,657,003 (GRCm39)	H71Q	probably benign	Het
Frem2	A	T	3: 53,427,375 (GRCm39)	Y2926N	probably damaging	Het
Gap43	A	T	16: 42,112,691 (GRCm39)	D23E	probably damaging	Het
Glt8d1	T	C	14: 30,728,461 (GRCm39)	F3S	probably benign	Het
Gm11555	C	T	11: 99,540,844 (GRCm39)		probably benign	Het
H2-T24	A	C	17: 36,326,463 (GRCm39)	S145R	probably benign	Het
Inpp5b	A	T	4: 124,689,249 (GRCm39)	N843I	probably damaging	Het
Jak3	C	T	8: 72,139,620 (GRCm39)		probably benign	Het
Krt8	T	A	15: 101,909,883 (GRCm39)	M174L	probably benign	Het
Ktn1	C	T	14: 47,901,398 (GRCm39)	T52I	probably damaging	Het
Lrp4	T	C	2: 91,305,523 (GRCm39)		probably benign	Het
Nefh	G	A	11: 4,890,240 (GRCm39)	A793V	probably damaging	Het
Niban1	T	C	1: 151,593,835 (GRCm39)	V840A	probably benign	Het
Notch1	A	G	2: 26,356,584 (GRCm39)	S1678P	probably benign	Het
Notch2	C	T	3: 98,009,767 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or10d4c	A	G	9: 39,558,168 (GRCm39)	T49A	probably benign	Het
Or2ab1	A	G	11: 58,488,674 (GRCm39)	I151V	probably benign	Het
Or5ac25	T	A	16: 59,182,171 (GRCm39)	N137Y	probably damaging	Het
Or6z5	A	T	7: 6,477,234 (GRCm39)	I42F	possibly damaging	Het
Or8g17	G	T	9: 38,930,472 (GRCm39)	R122S	probably damaging	Het
Or9i16	C	T	19: 13,865,116 (GRCm39)	V153I	possibly damaging	Het
Pak4	T	A	7: 28,267,479 (GRCm39)	I62F	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,371 (GRCm39)	F506I	probably damaging	Het
Per1	A	T	11: 68,995,016 (GRCm39)	D632V	probably damaging	Het
Plec	A	G	15: 76,061,498 (GRCm39)	M2678T	probably benign	Het
Plg	A	G	17: 12,630,334 (GRCm39)		probably benign	Het
Prmt1	A	T	7: 44,627,048 (GRCm39)	S304R	probably damaging	Het
Prr27	T	C	5: 87,990,537 (GRCm39)	F50L	probably benign	Het
Prune2	T	C	19: 16,984,117 (GRCm39)	L159P	probably damaging	Het
Ptpn12	A	T	5: 21,203,481 (GRCm39)	N432K	possibly damaging	Het
Rfwd3	A	G	8: 112,020,621 (GRCm39)		probably null	Het
Rims2	A	T	15: 39,430,426 (GRCm39)	D1170V	probably damaging	Het
Sag	T	C	1: 87,762,351 (GRCm39)		probably null	Het
Sall4	C	T	2: 168,598,256 (GRCm39)	A195T	probably benign	Het
Sbf2	G	A	7: 109,966,530 (GRCm39)		probably benign	Het
Scaper	A	T	9: 55,517,158 (GRCm39)	D599E	possibly damaging	Het
Sema7a	G	A	9: 57,867,876 (GRCm39)	S484N	possibly damaging	Het
Senp1	A	G	15: 97,962,761 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,031,166 (GRCm39)	T623A	probably damaging	Het
Siae	A	G	9: 37,539,090 (GRCm39)	D95G	probably benign	Het
Slc26a2	T	C	18: 61,331,451 (GRCm39)	D660G	probably damaging	Het
Slc3a1	T	C	17: 85,336,077 (GRCm39)	F73S	possibly damaging	Het
Slfn5	A	T	11: 82,851,866 (GRCm39)	Q664L	probably damaging	Het
Spire1	T	C	18: 67,624,375 (GRCm39)	I512V	probably damaging	Het
Srpra	A	G	9: 35,124,797 (GRCm39)	T133A	probably benign	Het
Stag1	A	G	9: 100,836,300 (GRCm39)	*175W	probably null	Het
Stk32c	C	A	7: 138,700,636 (GRCm39)	V316F	probably damaging	Het
Tekt1	A	C	11: 72,236,420 (GRCm39)	N347K	possibly damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnpo2	T	A	8: 85,776,786 (GRCm39)	C498S	probably damaging	Het
Tra2b	G	A	16: 22,065,955 (GRCm39)	R281*	probably null	Het
Ubr5	A	T	15: 37,991,588 (GRCm39)	I1985N	probably benign	Het
Ush2a	T	G	1: 188,175,378 (GRCm39)	S1159A	probably benign	Het
Vmn1r15	C	T	6: 57,235,236 (GRCm39)	P35S	probably benign	Het
Vmn1r6	A	T	6: 56,979,583 (GRCm39)	I60L	probably benign	Het
Vps8	A	G	16: 21,278,561 (GRCm39)		probably benign	Het
Xkr7	T	C	2: 152,874,272 (GRCm39)	V113A	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
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
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'- TAGTGTGACACCCAAGCCTCCTTC -3'
(R):5'- TGTGACAGTCAGTCCTCGGACATC -3'

Sequencing Primer
(F):5'- TTCCAGTGAGCAGCAGTG -3'
(R):5'- AGTCAGTCCTCGGACATCTAGTC -3'

Posted On

2013-06-12