Mutagenetix > Incidental Mutation

Incidental Mutation 'R7677:Gbp3'

592495

Institutional Source

Beutler Lab

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 #

R7677 (G1)

Quality Score

123.008

Status

Not validated

Chromosome

Chromosomal Location

142560026-142573209 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 142560503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142411 (fasta)

Gene Model

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

AlphaFold

Q61107

Predicted Effect

probably benign
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 benign
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 benign
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

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,298,349	R2699*	probably null	Het
Adra2a	G	A	19: 54,046,944	V244M	probably damaging	Het
Apba2	A	G	7: 64,695,097	S12G	probably benign	Het
Arhgap20	T	A	9: 51,840,398	M383K	probably damaging	Het
Armc12	T	C	17: 28,537,891	V210A	probably benign	Het
Ash1l	A	T	3: 89,043,193	H2131L	probably damaging	Het
Atg5	T	C	10: 44,347,039	L219P	probably damaging	Het
Atp2c2	A	T	8: 119,748,176	M507L	probably benign	Het
Atr	T	A	9: 95,885,462	L1191I	probably damaging	Het
B4galt5	T	C	2: 167,305,078	T279A	probably damaging	Het
Bglap2	T	C	3: 88,377,973	E62G	probably damaging	Het
Card6	A	G	15: 5,098,444	S1157P	unknown	Het
Ccdc17	T	C	4: 116,597,765		probably null	Het
Cdc6	T	A	11: 98,919,365	L500*	probably null	Het
Dst	G	T	1: 34,169,322		probably null	Het
Fbxw7	C	T	3: 84,904,066	T166I		Het
Fer1l6	T	C	15: 58,602,290	V955A	probably benign	Het
Fezf2	T	C	14: 12,344,941	E82G	probably benign	Het
Flii	T	C	11: 60,720,145	D486G	probably damaging	Het
Fndc3a	T	C	14: 72,567,414	T476A	probably benign	Het
Gm9268	A	C	7: 43,024,739	H414P	probably damaging	Het
Hebp2	T	C	10: 18,545,799		probably benign	Het
Hhipl2	T	A	1: 183,424,043	M88K	possibly damaging	Het
Hip1	A	G	5: 135,430,317	C605R	probably benign	Het
Hoxd13	T	C	2: 74,668,565	S86P	probably benign	Het
Hspa12a	G	T	19: 58,860,885	A2E	probably benign	Het
Il1rl1	A	C	1: 40,446,704	*338C	probably null	Het
Lrrc37a	G	T	11: 103,499,638	P1654T	probably benign	Het
Mybpc3	A	T	2: 91,129,031	D704V	probably benign	Het
Napsa	A	T	7: 44,581,706	K120*	probably null	Het
Nat3	A	C	8: 67,547,487	Y6S	probably damaging	Het
Negr1	C	T	3: 157,069,186	Q180*	probably null	Het
Nynrin	T	A	14: 55,870,236	D933E	probably benign	Het
Olfr119	T	A	17: 37,701,066	I132K	probably damaging	Het
Olfr1413	C	T	1: 92,573,261	T30I	not run	Het
Olfr167	G	A	16: 19,514,928	A236V	probably benign	Het
Olfr420	A	T	1: 174,159,048	I92F	probably damaging	Het
Olfr894	T	A	9: 38,219,028	N65K	probably damaging	Het
Olfr905	T	A	9: 38,473,535	S263T	possibly damaging	Het
Olfr95	A	T	17: 37,211,495	Y119*	probably null	Het
Pbx1	A	T	1: 168,203,426	F208I	probably damaging	Het
Pcdha11	T	C	18: 37,011,552	V232A	probably damaging	Het
Pcsk5	A	G	19: 17,581,229	Y605H	possibly damaging	Het
Pde3a	T	A	6: 141,250,257	L223Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitpnm2	G	A	5: 124,123,569	R977C	probably damaging	Het
Pkdrej	A	C	15: 85,815,587	D2049E	probably benign	Het
Psmd6	T	C	14: 14,120,837	D16G	probably benign	Het
Pth2r	C	A	1: 65,388,446	T426N	probably benign	Het
Ralgapa1	G	T	12: 55,659,143	L1865M	probably damaging	Het
Ryr3	T	A	2: 112,833,900	Q1702L	probably benign	Het
Sars2	A	G	7: 28,746,751	Y135C	probably benign	Het
Sdha	G	A	13: 74,333,053	R345*	probably null	Het
Selp	A	T	1: 164,133,956	S413C	probably damaging	Het
Sirt2	G	A	7: 28,785,410	C221Y	probably damaging	Het
Skiv2l	A	T	17: 34,848,164	S100T	probably benign	Het
Socs7	C	A	11: 97,389,642	Q566K	probably benign	Het
Spdye4c	G	A	2: 128,594,136	V151M	probably benign	Het
Srcap	A	G	7: 127,559,808	D2952G	unknown	Het
Srd5a2	A	T	17: 74,047,754	L25Q	probably damaging	Het
Srrt	A	T	5: 137,300,148	V254D	probably damaging	Het
Tap2	T	C	17: 34,205,520	F76L	probably benign	Het
Tdpoz4	T	A	3: 93,797,508	*371R	probably null	Het
Tm9sf3	A	T	19: 41,221,304	F441I	probably damaging	Het
Tmem259	C	T	10: 79,978,580	R314Q	probably damaging	Het
Trim28	G	T	7: 13,028,113	R312L	possibly damaging	Het
Tsc1	A	G	2: 28,672,817	T393A	probably benign	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 11,134,474		probably benign	Het
Ube2v2	T	C	16: 15,581,100	T42A	probably benign	Het
Zfp609	A	T	9: 65,697,174	S1342R	possibly damaging	Het
Zg16	A	T	7: 127,050,591	V66E	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
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
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'- TTCCCTGGTGAGTACTACAGAC -3'
(R):5'- CTGTAACAGGGACAGTCCTCAG -3'

Sequencing Primer
(F):5'- CCTGGTGAGTACTACAGACAGACTTG -3'
(R):5'- GGGACAGTCCTCAGCCAACTTAG -3'

Posted On

2019-11-12