Mutagenetix > Incidental Mutation

Incidental Mutation 'R6328:Gbp3'

510798

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 #

R6328 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142560026-142573209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142569058 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 382 (E382G)

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: E382G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268
AA Change: E382G

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: E382G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268
AA Change: E382G

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: E382G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268
AA Change: E382G

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

Meta Mutation Damage Score

0.3023

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,602,436		probably benign	Het
Abcb10	G	A	8: 123,962,017	R507W	probably damaging	Het
Actg1	T	C	11: 120,347,760	D80G	possibly damaging	Het
Actr5	A	G	2: 158,635,344	D405G	possibly damaging	Het
Ahnak	C	T	19: 9,007,148	T1932I	probably benign	Het
Ankk1	T	A	9: 49,416,071	T603S	possibly damaging	Het
Atp13a3	A	T	16: 30,336,235	F964I	probably damaging	Het
Atp6v1g3	A	G	1: 138,287,832	T77A	probably benign	Het
Bccip	A	G	7: 133,717,774	H198R	probably damaging	Het
Bsx	A	T	9: 40,874,223	R16W	probably damaging	Het
Ccdc88b	C	T	19: 6,849,038	R1103Q	probably damaging	Het
Cd59a	A	C	2: 104,110,758	Y27S	probably damaging	Het
Cdk20	A	G	13: 64,436,599	H162R	probably damaging	Het
Col6a2	C	T	10: 76,614,378	E240K	possibly damaging	Het
Ddr2	A	G	1: 169,987,065	V603A	possibly damaging	Het
Dgkz	A	G	2: 91,942,635	V359A	probably benign	Het
Dis3l2	T	A	1: 86,854,431	S223T	probably benign	Het
Dpysl4	A	G	7: 139,099,818	S535G	probably benign	Het
Dsp	A	T	13: 38,197,006	K1977*	probably null	Het
Dync2h1	A	T	9: 7,165,717	S515T	probably benign	Het
Epg5	A	G	18: 78,028,964	E2397G	possibly damaging	Het
Fam83d	G	A	2: 158,785,176	G262S	probably damaging	Het
Frmd4a	A	T	2: 4,590,698	T477S	probably damaging	Het
Gltp	A	T	5: 114,670,511	C157S	possibly damaging	Het
Grb10	A	G	11: 11,937,905	S378P	probably damaging	Het
Gulo	G	T	14: 66,002,631	T126K	probably damaging	Het
H2-M10.6	T	A	17: 36,813,944	M251K	probably damaging	Het
Hecw1	T	C	13: 14,247,620	D967G	possibly damaging	Het
Htr3b	A	T	9: 48,947,633	D68E	probably damaging	Het
Igkv5-39	G	T	6: 69,900,505	S89*	probably null	Het
Kctd4	C	A	14: 75,962,597		probably benign	Het
Lmna	T	C	3: 88,486,506	Q255R	probably damaging	Het
Lsmem1	A	G	12: 40,180,657	I82T	possibly damaging	Het
Lyg2	T	A	1: 37,911,113	M45L	probably benign	Het
Myo5b	G	A	18: 74,616,993	A176T	probably damaging	Het
Nudt5	A	T	2: 5,864,437	K158I	possibly damaging	Het
Nufip1	C	T	14: 76,111,054	P41L	possibly damaging	Het
Olfr1307	A	T	2: 111,945,394	W21R	probably null	Het
Olfr618	A	T	7: 103,597,866	E183D	probably damaging	Het
Pcp2	T	C	8: 3,624,887	D22G	probably damaging	Het
Pdk2	G	C	11: 95,039,402	N69K	possibly damaging	Het
Pdlim7	G	T	13: 55,508,092		probably benign	Het
Ptprc	C	A	1: 138,113,678	E148*	probably null	Het
Rassf5	A	T	1: 131,180,668	V225E	probably damaging	Het
Rbm6	A	T	9: 107,787,259	M725K	probably benign	Het
Scn1a	T	A	2: 66,273,316	I1867F	probably damaging	Het
Sdk2	T	A	11: 113,793,755	Q1960L	probably damaging	Het
Setx	A	G	2: 29,174,462		probably benign	Het
Sgo2b	T	A	8: 63,928,311	R496*	probably null	Het
Slco1a1	C	T	6: 141,932,450	V222I	probably damaging	Het
Sntg2	A	C	12: 30,258,014	L224R	probably damaging	Het
Syt16	C	A	12: 74,266,693	C464*	probably null	Het
Tapbpl	T	A	6: 125,224,918	S420C	probably benign	Het
Tax1bp1	A	G	6: 52,746,709	E528G	probably benign	Het
Tmem168	T	C	6: 13,602,711	T219A	probably benign	Het
Zfp180	T	C	7: 24,105,556	F467L	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTCACAGCTGCTGCGTATGAG -3'
(R):5'- GGTAGCCCAGCTCAATCTTC -3'

Sequencing Primer
(F):5'- CTTCCGGAAGTCACTCAGAATTG -3'
(R):5'- CTTCCTGGCTTCTAAGTAGAGG -3'

Posted On

2018-04-02