Mutagenetix > Incidental Mutation

Incidental Mutation 'R5822:Gbp3'

449968

Institutional Source

Beutler Lab

Gene Symbol

Gbp3

Ensembl Gene

ENSMUSG00000028268

Gene Name

guanylate binding protein 3

Synonyms

MMRRC Submission

044052-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142560026-142573209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 142566478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 247 (P247L)

Ref Sequence

ENSEMBL: ENSMUSP00000101829 (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: P247L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268
AA Change: P247L

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: P247L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268
AA Change: P247L

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: P247L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268
AA Change: P247L

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (54/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	G	A	1: 105,718,856	V660M	probably damaging	Het
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
Abca8a	C	T	11: 110,030,879	E1450K	probably damaging	Het
B4galnt2	T	C	11: 95,866,159	Y482C	probably damaging	Het
Bud23	A	G	5: 135,063,921	F9L	probably damaging	Het
Cacna1s	A	T	1: 136,112,078	E1214V	probably damaging	Het
Cdh20	T	C	1: 104,934,098	M1T	probably null	Het
Chkb	T	C	15: 89,429,512	E30G	probably benign	Het
Crp	A	C	1: 172,698,068		probably benign	Het
Cyp11b1	T	C	15: 74,836,821	R375G	probably null	Het
Ddx11	C	T	17: 66,129,981	S90L	probably benign	Het
Flnc	A	C	6: 29,459,430	I2510L	probably damaging	Het
Fyb	T	A	15: 6,663,226		probably benign	Het
Ggn	C	T	7: 29,172,556	P454S	probably damaging	Het
Gm12800	A	G	4: 101,910,243	M230V	probably damaging	Het
Gm813	C	A	16: 58,615,712		probably null	Het
Herc1	T	A	9: 66,445,612	S2127T	probably benign	Het
Ipo11	A	G	13: 106,848,418		probably benign	Het
Kcnh7	G	A	2: 62,716,238	R1000W	probably benign	Het
Kdm5b	A	T	1: 134,588,773		probably benign	Het
Klc3	C	T	7: 19,395,799		probably null	Het
Lst1	A	T	17: 35,188,383	M3K	unknown	Het
Madd	C	T	2: 91,152,533	R1355Q	probably damaging	Het
Map3k10	A	G	7: 27,656,734	L920P	probably damaging	Het
Mdga2	A	G	12: 66,655,335	V423A	probably damaging	Het
Mogat2	T	C	7: 99,219,905	D302G	possibly damaging	Het
Nkapl	A	C	13: 21,468,423	S7A	unknown	Het
Npas2	A	G	1: 39,347,566	S639G	probably benign	Het
Nr1h5	T	G	3: 102,949,328	H260P	probably damaging	Het
Olfr117	T	C	17: 37,660,231	Y34C	probably damaging	Het
Olfr1260	T	C	2: 89,978,443	S222P	probably damaging	Het
Olfr1352	C	T	10: 78,984,189	T133I	possibly damaging	Het
Olfr160	T	C	9: 37,711,791	M163V	probably benign	Het
Olfr331	A	T	11: 58,501,638	L306Q	possibly damaging	Het
Pan2	T	C	10: 128,320,380	L1142P	probably damaging	Het
Pdik1l	C	T	4: 134,287,163	E11K	possibly damaging	Het
Ppp1r15a	A	G	7: 45,523,303	V555A	probably damaging	Het
Ppp6c	G	A	2: 39,200,052	Q81*	probably null	Het
Ptprz1	A	T	6: 23,001,445	Y1178F	probably benign	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Rims2	T	A	15: 39,476,490	L860Q	probably damaging	Het
Sdr39u1	A	G	14: 55,897,739	V249A	probably benign	Het
Serhl	T	C	15: 83,116,327	V305A	probably benign	Het
Slc5a11	T	C	7: 123,252,431	I201T	probably damaging	Het
Stk32a	A	T	18: 43,313,487	E334V	probably benign	Het
Tmem217	A	G	17: 29,526,555	L67P	probably damaging	Het
Tnnt1	A	T	7: 4,516,346	L12*	probably null	Het
Trim80	C	T	11: 115,447,921	R526C	probably damaging	Het
Unc5b	A	T	10: 60,772,527	F635I	possibly damaging	Het
Utp20	T	G	10: 88,817,285	N311T	probably benign	Het
Zfp276	A	G	8: 123,255,718	T74A	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
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

Predicted Primers

PCR Primer
(F):5'- CAGCCTTACAAACATTCTTGGAAAG -3'
(R):5'- GAATCGCAGCTGCTTCACATG -3'

Sequencing Primer
(F):5'- GGAAAGTTGTCAATCCCCTTATC -3'
(R):5'- GTTCTAAACCACAGAGACATGCTTGG -3'

Posted On

2016-12-20