Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01067:Gbp3'

50696

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbp3

Ensembl Gene

ENSMUSG00000028268

Gene Name

guanylate binding protein 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01067

Quality Score

Status

Chromosome

Chromosomal Location

142560026-142573209 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 142566597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029935] [ENSMUST00000106221] [ENSMUST00000106222] [ENSMUST00000128609] [ENSMUST00000142060] [ENSMUST00000199325]

AlphaFold

Q61107

Predicted Effect

probably null
Transcript: ENSMUST00000029935

SMART Domains

Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268

Domain	Start	End	E-Value	Type
Pfam:GBP	12	275	7.2e-126	PFAM
Pfam:GBP_C	277	573	2.6e-126	PFAM
low complexity region	605	620	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106221

SMART Domains

Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268

Domain	Start	End	E-Value	Type
Pfam:GBP	12	275	7.2e-126	PFAM
Pfam:GBP_C	277	573	2.6e-126	PFAM
low complexity region	605	620	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106222

SMART Domains

Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268

Domain	Start	End	E-Value	Type
Pfam:GBP	12	275	9.6e-125	PFAM
Pfam:GBP_C	277	573	2.6e-126	PFAM
low complexity region	605	620	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128609

SMART Domains

Protein: ENSMUSP00000117991
Gene: ENSMUSG00000028268

Domain	Start	End	E-Value	Type
Pfam:GBP	12	83	1.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142060

SMART Domains

Protein: ENSMUSP00000120131
Gene: ENSMUSG00000028268

Domain	Start	End	E-Value	Type
Pfam:GBP	12	136	4.8e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142731

Predicted Effect

probably benign
Transcript: ENSMUST00000199325

SMART Domains

Protein: ENSMUSP00000142411
Gene: ENSMUSG00000028268

Domain	Start	End	E-Value	Type
Pfam:GBP	12	57	8.1e-17	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
A330008L17Rik	T	C	8: 99,421,954		noncoding transcript	Het
Acp4	C	T	7: 44,253,452	V331I	probably benign	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Alg6	T	C	4: 99,741,570	V128A	probably benign	Het
Ank3	A	G	10: 69,850,196	K280E	probably damaging	Het
Bfar	T	C	16: 13,685,241	C36R	probably damaging	Het
Car14	A	G	3: 95,898,816	I311T	probably damaging	Het
Cd300c	T	C	11: 114,960,427		probably benign	Het
Cfap100	T	A	6: 90,406,114	E513V	probably damaging	Het
Clip1	C	A	5: 123,630,804	K612N	probably damaging	Het
Depdc5	A	G	5: 32,899,067		probably null	Het
Dock3	A	T	9: 107,082,373		probably null	Het
Dph6	A	T	2: 114,647,809	M17K	probably damaging	Het
Enkur	T	C	2: 21,189,231	Q177R	probably benign	Het
Faap100	T	C	11: 120,372,132	H800R	probably damaging	Het
Fastkd2	T	G	1: 63,737,771		probably benign	Het
Fcgr2b	A	T	1: 170,968,053	N102K	possibly damaging	Het
Fezf1	C	T	6: 23,247,843	V78I	possibly damaging	Het
Fmn2	A	T	1: 174,503,319	D425V	unknown	Het
Fnta	G	A	8: 26,007,201	Q207*	probably null	Het
Fpr3	T	A	17: 17,970,566	V33D	probably benign	Het
Fshr	C	T	17: 88,985,393	C619Y	possibly damaging	Het
Gjb2	A	G	14: 57,100,172	V193A	possibly damaging	Het
Il4ra	A	G	7: 125,575,161	T292A	probably benign	Het
Lama5	A	G	2: 180,176,543		probably benign	Het
Marveld3	G	T	8: 109,961,964	D48E	possibly damaging	Het
Meox1	A	T	11: 101,893,773	I78N	probably benign	Het
Ncor1	A	T	11: 62,392,528	H444Q	probably damaging	Het
Ndst3	T	C	3: 123,546,817	Q784R	probably damaging	Het
Olfr1123	A	G	2: 87,418,370	I107M	probably benign	Het
Olfr1294	T	A	2: 111,538,014	I92F	probably damaging	Het
Pld5	A	T	1: 176,274,879		probably benign	Het
Plk1	G	A	7: 122,168,925	R456H	probably damaging	Het
Polr2a	T	A	11: 69,748,014	I65F	possibly damaging	Het
Ptprd	T	A	4: 76,059,685	I196F	probably damaging	Het
Qsox2	T	C	2: 26,228,396	N121S	probably damaging	Het
Reln	A	G	5: 21,979,666	L1617S	probably damaging	Het
Rragc	T	C	4: 123,929,968	F345L	probably benign	Het
Sass6	A	T	3: 116,613,956	E240D	possibly damaging	Het
Shcbp1l	A	C	1: 153,436,024	S308R	possibly damaging	Het
Slc1a5	T	A	7: 16,786,879	C224*	probably null	Het
Slc27a5	T	C	7: 12,989,072	E567G	probably damaging	Het
Synj2	T	A	17: 6,037,926	N1417K	possibly damaging	Het
Tbc1d9	A	G	8: 83,234,162	T214A	probably damaging	Het
Tjp3	C	A	10: 81,273,865	V835L	probably benign	Het
Trpc4	C	A	3: 54,222,562	Q250K	probably benign	Het
Ttn	A	T	2: 76,745,162	I25129N	probably damaging	Het
Ube4a	T	A	9: 44,944,865	Y523F	probably damaging	Het
Zfp971	G	A	2: 178,023,382		probably null	Het

Other mutations in Gbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Gbp3	APN	3	142565244	unclassified	probably benign
IGL02965:Gbp3	APN	3	142567582	missense	probably benign	0.31
R0136:Gbp3	UTSW	3	142564101	splice site	probably null
R0609:Gbp3	UTSW	3	142567772	missense	probably damaging	0.99
R0671:Gbp3	UTSW	3	142565390	missense	probably benign	0.17
R0673:Gbp3	UTSW	3	142565254	missense	probably benign	0.45
R0786:Gbp3	UTSW	3	142570971	missense	possibly damaging	0.67
R2511:Gbp3	UTSW	3	142570582	missense	probably benign	0.31
R3909:Gbp3	UTSW	3	142566338	unclassified	probably benign
R3912:Gbp3	UTSW	3	142566338	unclassified	probably benign
R4816:Gbp3	UTSW	3	142567574	missense	probably damaging	0.99
R5822:Gbp3	UTSW	3	142566478	missense	probably benign	0.01
R6046:Gbp3	UTSW	3	142567799	missense	possibly damaging	0.81
R6328:Gbp3	UTSW	3	142569058	missense	probably benign	0.01
R7186:Gbp3	UTSW	3	142564162	missense	probably damaging	0.97
R7536:Gbp3	UTSW	3	142566395	missense	probably damaging	1.00
R7543:Gbp3	UTSW	3	142566580	missense	probably damaging	0.97
R7602:Gbp3	UTSW	3	142569061	missense	probably benign	0.00
R7677:Gbp3	UTSW	3	142560503	start gained	probably benign
R7764:Gbp3	UTSW	3	142565263	missense	probably benign	0.37
R7923:Gbp3	UTSW	3	142567612	missense	probably damaging	1.00
R9099:Gbp3	UTSW	3	142565287	missense	probably benign	0.02
R9102:Gbp3	UTSW	3	142567825	missense	probably benign	0.01
R9440:Gbp3	UTSW	3	142566574	missense	possibly damaging	0.63
R9459:Gbp3	UTSW	3	142564946	critical splice acceptor site	probably null
R9760:Gbp3	UTSW	3	142570522	missense	probably benign	0.01
X0025:Gbp3	UTSW	3	142566432	missense	probably benign	0.42
X0062:Gbp3	UTSW	3	142561774	missense	probably damaging	1.00
Z1176:Gbp3	UTSW	3	142561863	missense	probably damaging	1.00

Posted On

2013-06-21