Mutagenetix > Incidental Mutation

Incidental Mutation 'R9102:Gbp3'

691740

Institutional Source

Beutler Lab

Gene Symbol

Gbp3

Ensembl Gene

ENSMUSG00000028268

Gene Name

guanylate binding protein 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142560026-142573209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 142567825 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 378 (V378L)

Ref Sequence

ENSEMBL: ENSMUSP00000029935 (fasta)

Gene Model

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

AlphaFold

Q61107

Predicted Effect

probably benign
Transcript: ENSMUST00000029935
AA Change: V378L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268
AA Change: V378L

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

SMART Domains

Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268
AA Change: V378L

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: V378L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268
AA Change: V378L

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

Coding Region Coverage

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

Validation Efficiency

97% (62/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Adam33	T	C	2: 131,055,817	Q227R	probably benign	Het
Adgrb2	G	A	4: 130,019,009	G1276D	probably benign	Het
Adra1b	A	G	11: 43,776,229	S394P	possibly damaging	Het
Arap2	T	A	5: 62,748,998	H226L	probably benign	Het
Bckdk	A	G	7: 127,907,486	D297G	probably null	Het
Brwd1	T	C	16: 96,068,525	T101A	probably benign	Het
Ciita	A	G	16: 10,506,701	R166G	probably benign	Het
Cnksr1	A	G	4: 134,229,012	F587S	probably damaging	Het
Col4a1	A	T	8: 11,203,007	C1548S	possibly damaging	Het
Cxcl15	G	T	5: 90,801,295	M106I		Het
Dennd6a	T	C	14: 26,629,534	I598T	probably damaging	Het
Dlg5	G	A	14: 24,149,499	P1446S	probably damaging	Het
Dnah6	A	T	6: 73,067,486	I3214N	probably benign	Het
Dnmt3b	T	C	2: 153,676,783	V622A	probably damaging	Het
Fam170b	T	A	14: 32,835,447	S80T	probably damaging	Het
Fbxl13	G	T	5: 21,632,803	H45Q	probably benign	Het
Fbxo39	T	C	11: 72,317,490	F223L	possibly damaging	Het
Fndc3b	C	A	3: 27,468,865		probably null	Het
Gc	C	T	5: 89,443,585	S98N	probably benign	Het
Gck	A	G	11: 5,906,516	Y214H	probably damaging	Het
Gpr158	A	T	2: 21,825,267	S708C	probably damaging	Het
Hmcn1	A	T	1: 150,697,580	M2106K	probably benign	Het
Hoxd11	T	A	2: 74,682,930	Y180N	possibly damaging	Het
Hydin	A	G	8: 110,508,914	I1844V	probably benign	Het
Knl1	T	C	2: 119,087,492	I1777T	probably benign	Het
Krt33b	A	C	11: 100,025,020	L300R	probably damaging	Het
Madd	C	T	2: 91,158,059	A1208T	probably benign	Het
Meis2	T	A	2: 115,864,279	N461I	probably benign	Het
Mgat1	T	A	11: 49,261,338	V216E	probably damaging	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Npc1l1	C	T	11: 6,214,684	V1122M	possibly damaging	Het
Nrsn1	A	G	13: 25,253,534	M137T	probably benign	Het
Nrxn3	T	C	12: 90,332,150	S1015P	probably benign	Het
Nudt22	T	A	19: 6,994,751	I166F	probably benign	Het
Olfr1106	C	T	2: 87,048,827	M136I	possibly damaging	Het
Olfr149	A	C	9: 39,702,688	V27G	probably benign	Het
Olfr424	A	T	1: 174,136,756	N4I		Het
Olfr430	T	A	1: 174,069,610	F104Y	probably damaging	Het
Olfr878	T	A	9: 37,918,696	I13N	probably damaging	Het
Olfr949-ps1	C	T	9: 39,365,092	P178S	unknown	Het
Pcdha4	T	A	18: 36,954,577	N604K	probably damaging	Het
Plxnc1	C	T	10: 94,827,245	V1181M	probably damaging	Het
Pms1	G	C	1: 53,267,862	H128Q	probably benign	Het
Prkar2b	G	A	12: 31,963,026	H364Y	probably benign	Het
Pus7	A	T	5: 23,752,382	I357K	possibly damaging	Het
Rsf1	GCGGC	GCGGCGGCGCCGGC	7: 97,579,931		probably benign	Het
Ryr3	T	C	2: 112,678,561		probably benign	Het
Siglec1	T	C	2: 131,073,469	I1401V	probably benign	Het
Slc6a6	G	T	6: 91,754,959	V590L	probably benign	Het
Slc9b1	C	T	3: 135,394,964	P490L	probably damaging	Het
Sprn	T	C	7: 140,153,365	D98G	possibly damaging	Het
Srrm4	T	C	5: 116,482,504	D55G	unknown	Het
Sugct	A	G	13: 17,323,248	V280A	probably benign	Het
Tbx6	A	G	7: 126,781,842	E83G	possibly damaging	Het
Tmem120a	T	C	5: 135,736,601	T209A	probably benign	Het
Top3a	T	C	11: 60,756,329	R255G	probably damaging	Het
Trav6-1	T	A	14: 52,638,551	F13I	probably benign	Het
Tsnaxip1	A	G	8: 105,841,990	E410G	probably benign	Het
Ubr5	A	G	15: 38,018,352	V842A		Het
Ubtf	A	G	11: 102,310,189		probably null	Het
Vwa3b	G	A	1: 37,135,512	M1I	probably null	Het
Zfp518b	T	C	5: 38,673,838	T275A	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCATAGCTGTGCAGAAGGC -3'
(R):5'- TAGTTTCATCTGGCTCTGGC -3'

Sequencing Primer
(F):5'- AGGCAGCTGACCACTACAGTG -3'
(R):5'- GCACTTAGCACATGGTAGCTTG -3'

Posted On

2021-12-30