Mutagenetix > Incidental Mutation

Incidental Mutation 'R7764:Gbp3'

598107

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 #

R7764 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142560026-142573209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142565263 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 143 (T143A)

Ref Sequence

ENSEMBL: ENSMUSP00000029935 (fasta)

Gene Model

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

AlphaFold

Q61107

Predicted Effect

probably benign
Transcript: ENSMUST00000029935
AA Change: T143A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268
AA Change: T143A

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: T143A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268
AA Change: T143A

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: T143A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268
AA Change: T143A

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

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

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	G	16: 20,549,290	L93V	probably benign	Het
Adss	A	C	1: 177,764,261	M452R	probably damaging	Het
Aldh3b1	T	A	19: 3,921,563	K102*	probably null	Het
Ccdc162	A	T	10: 41,690,113	V78D	possibly damaging	Het
Ccr3	T	C	9: 124,029,414	V262A	probably benign	Het
Cdk13	A	T	13: 17,721,305		probably null	Het
Cdyl	A	T	13: 35,816,143	T136S	possibly damaging	Het
Chd2	T	C	7: 73,471,819	D1015G	probably null	Het
Cntn2	C	A	1: 132,522,363	A598S	probably benign	Het
Cxxc4	G	T	3: 134,240,095	G146C	unknown	Het
Dnah2	G	A	11: 69,458,158	T2501I	probably benign	Het
Dock8	T	A	19: 25,097,535	I471N	probably benign	Het
Eaf2	A	G	16: 36,824,683	V59A	probably damaging	Het
Egflam	T	A	15: 7,318,255	I65F	probably damaging	Het
Exoc3l	A	G	8: 105,290,701	V577A	possibly damaging	Het
Folh1	A	T	7: 86,762,918	M215K	probably benign	Het
Fosb	T	C	7: 19,305,046	D271G	possibly damaging	Het
Frmd4b	A	G	6: 97,295,930	Y834H	probably damaging	Het
Fsip2	T	C	2: 82,980,908	S2524P	possibly damaging	Het
Grk2	A	T	19: 4,287,363	L632Q	probably damaging	Het
Hars	A	T	18: 36,770,184	D364E	probably damaging	Het
Hsd17b4	G	T	18: 50,146,415	G154*	probably null	Het
Kif5c	T	C	2: 49,727,961		probably null	Het
Kif5c	T	C	2: 49,749,327	L800P	probably damaging	Het
Krt19	T	C	11: 100,141,392	N282S	probably benign	Het
Med23	T	G	10: 24,909,920		probably null	Het
Meltf	A	G	16: 31,880,267	Q65R	probably benign	Het
Mms22l	T	C	4: 24,598,842	S1106P	probably damaging	Het
Mprip	A	G	11: 59,764,416	T733A	probably damaging	Het
Mul1	G	A	4: 138,434,769	G4S	possibly damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk	G	T	16: 34,922,183	V1022L	probably benign	Het
Ncald	G	T	15: 37,397,210	N75K	probably damaging	Het
Nfib	A	G	4: 82,320,494	S492P	possibly damaging	Het
Notch2	A	T	3: 98,142,988	I1860F	probably damaging	Het
Olfr1499	A	G	19: 13,814,747	I281T	probably benign	Het
Oxr1	T	C	15: 41,819,867	S298P	probably benign	Het
Pcnt	T	C	10: 76,354,248	D2818G	probably benign	Het
Pmpcb	G	A	5: 21,743,452	A244T	probably damaging	Het
Poln	A	G	5: 34,116,807		probably null	Het
Polr1a	G	A	6: 71,953,070	V914M	probably damaging	Het
Rab15	A	C	12: 76,804,441		probably null	Het
Rasgrf1	G	T	9: 89,994,694	S704I	possibly damaging	Het
Rsf1	GGCGGCGG	GGCGGCGGGCGCGGCGG	7: 97,579,927		probably benign	Het
Sart1	C	A	19: 5,388,585	G15W	probably damaging	Het
Scrib	T	C	15: 76,047,393	*1666W	probably null	Het
Setd1b	G	C	5: 123,146,559	R184P	unknown	Het
Sfxn2	A	T	19: 46,585,740	N123I	probably damaging	Het
Slc22a3	A	G	17: 12,458,496	W262R	probably damaging	Het
Slc38a10	A	G	11: 120,105,079	L1064P	probably damaging	Het
Sorcs2	A	T	5: 36,024,072	S1077R	possibly damaging	Het
Them7	G	T	2: 105,297,826	E51*	probably null	Het
Ubc	A	G	5: 125,388,069	S65P	possibly damaging	Het
Ubqln3	A	T	7: 104,141,236	M549K	possibly damaging	Het
Vmn1r222	A	G	13: 23,232,359	L228P	probably damaging	Het
Vmn2r60	A	G	7: 42,195,111	T633A	probably damaging	Het
Zfp382	T	C	7: 30,133,275	V117A	probably benign	Het
Zic1	C	T	9: 91,365,692		probably benign	Het
Zmym4	A	T	4: 126,925,616	F165I	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
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'- GAGCAGCTGCAGTATCCTTC -3'
(R):5'- TACCTTGGATCAGCTTCAGGG -3'

Sequencing Primer
(F):5'- GTATCCTTCCAGGGACCAAATTG -3'
(R):5'- GGATCAGCTTCAGGGCATTCTC -3'

Posted On

2019-11-26