Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02965:Gbp3'

365544

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbp3

Ensembl Gene

ENSMUSG00000028268

Gene Name

guanylate binding protein 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02965

Quality Score

Status

Chromosome

Chromosomal Location

142560026-142573209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142567582 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 297 (I297V)

Ref Sequence

ENSEMBL: ENSMUSP00000101829 (fasta)

Gene Model

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

AlphaFold

Q61107

Predicted Effect

probably benign
Transcript: ENSMUST00000029935
AA Change: I297V

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268
AA Change: I297V

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 benign
Transcript: ENSMUST00000106221
AA Change: I297V

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268
AA Change: I297V

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 benign
Transcript: ENSMUST00000106222
AA Change: I297V

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268
AA Change: I297V

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,180,613	K1471R	probably benign	Het
Add1	A	G	5: 34,620,123	S77G	probably damaging	Het
Atm	G	T	9: 53,453,563	N2642K	probably damaging	Het
Atp6v0a2	T	A	5: 124,629,202	M10K	possibly damaging	Het
Btd	T	A	14: 31,667,236	S305T	probably damaging	Het
Cmya5	C	T	13: 93,092,557	V2008I	probably benign	Het
Cpd	T	G	11: 76,790,988		probably benign	Het
Dis3l	A	G	9: 64,310,484	F772L	probably damaging	Het
Dlg5	A	T	14: 24,172,023	I517N	probably damaging	Het
Fig4	G	A	10: 41,285,665	T34M	probably damaging	Het
Flna	C	T	X: 74,227,210	V2235I	probably damaging	Het
Flot2	T	C	11: 78,059,205	I371T	possibly damaging	Het
Fsip2	G	A	2: 82,983,054	S3239N	probably benign	Het
Gcnt3	T	C	9: 70,034,953	E111G	probably benign	Het
Gdi1	G	T	X: 74,307,725	A148S	probably benign	Het
Heatr5b	G	A	17: 78,753,073	H2058Y	probably benign	Het
Hsp90aa1	A	G	12: 110,695,679	M1T	probably null	Het
Iltifb	A	G	10: 118,294,857	S45P	probably damaging	Het
Inppl1	C	A	7: 101,828,271	V715F	possibly damaging	Het
Kansl1	T	C	11: 104,335,165	Y975C	probably damaging	Het
Kif18b	A	G	11: 102,916,512		probably benign	Het
Krt40	T	A	11: 99,541,666	R175W	probably damaging	Het
Map3k19	T	C	1: 127,824,066	D516G	probably damaging	Het
Mfsd3	A	G	15: 76,703,152	H345R	probably benign	Het
Mlkl	A	T	8: 111,331,837	I162N	probably benign	Het
Mtnr1a	A	T	8: 45,069,382	N58I	probably damaging	Het
Nsmf	T	C	2: 25,061,762	V499A	probably damaging	Het
Nudt6	A	G	3: 37,419,506	L22P	probably damaging	Het
Nxf7	T	G	X: 135,589,410	E35A	probably damaging	Het
Olfr748	A	C	14: 50,711,196	I289L	probably damaging	Het
Paf1	T	C	7: 28,396,204		probably null	Het
Pcdhb11	G	T	18: 37,423,968	V784L	probably benign	Het
Pglyrp2	T	C	17: 32,418,586	D156G	probably benign	Het
Pnpt1	A	G	11: 29,156,939	D670G	probably damaging	Het
Polr1b	T	A	2: 129,125,523	H945Q	probably benign	Het
Ptk6	C	T	2: 181,199,068		probably benign	Het
Rftn1	C	T	17: 50,055,252	E273K	probably benign	Het
Rnf125	A	G	18: 20,983,111	I117V	probably benign	Het
Robo4	A	G	9: 37,410,469	K742R	possibly damaging	Het
Sez6l	T	C	5: 112,475,574	E37G	probably damaging	Het
Skint4	A	T	4: 112,136,021	I306L	probably benign	Het
Sntb1	A	T	15: 55,642,685	Y497*	probably null	Het
Snx27	C	A	3: 94,582,426	V42L	probably damaging	Het
Sorbs1	T	A	19: 40,376,743	T199S	probably benign	Het
Sorcs2	A	G	5: 36,077,957	Y72H	probably benign	Het
Spef2	G	T	15: 9,725,106		probably benign	Het
Sucla2	G	T	14: 73,579,431	V204L	probably benign	Het
Tescl	C	A	7: 24,333,673	V76F	probably damaging	Het
Tnxb	T	A	17: 34,709,654	Y2681N	possibly damaging	Het
Usp42	T	C	5: 143,728,014	T2A	probably damaging	Het
Vdac3-ps1	T	A	13: 18,030,846		noncoding transcript	Het
Wapl	T	A	14: 34,739,224		probably benign	Het

Other mutations in Gbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Gbp3	APN	3	142565244	unclassified	probably benign
IGL01067:Gbp3	APN	3	142566597	splice site	probably null
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

2015-12-18