Mutagenetix > Incidental Mutation

Incidental Mutation 'R0136:Gbp3'

21933

Institutional Source

Beutler Lab

Gene Symbol

Gbp3

Ensembl Gene

ENSMUSG00000028268

Gene Name

guanylate binding protein 3

Synonyms

MMRRC Submission

038421-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142265787-142278970 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 142269862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120131 (fasta)

Gene Model

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

AlphaFold

Q61107

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4b1	T	C	3: 103,717,262 (GRCm39)	M1T	probably null	Het
Arg2	T	C	12: 79,196,780 (GRCm39)	L167P	probably damaging	Het
Atxn1	A	G	13: 45,720,645 (GRCm39)	S417P	probably damaging	Het
Baz2b	A	G	2: 59,732,298 (GRCm39)	V1949A	probably benign	Het
Bcl3	A	G	7: 19,543,494 (GRCm39)	V324A	probably damaging	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Camta1	A	G	4: 151,163,426 (GRCm39)	S1479P	probably damaging	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Col5a1	T	C	2: 27,914,843 (GRCm39)	L153P	probably damaging	Het
Crat	C	A	2: 30,297,042 (GRCm39)	V304L	probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Fau	T	C	19: 6,109,210 (GRCm39)	V86A	possibly damaging	Het
Garem1	T	G	18: 21,263,048 (GRCm39)	S589R	probably damaging	Het
Gin1	T	A	1: 97,710,741 (GRCm39)	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,464,840 (GRCm39)	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,269,638 (GRCm39)	I517T	probably benign	Het
Hivep2	T	C	10: 14,007,622 (GRCm39)	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,542,991 (GRCm39)	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,804,165 (GRCm39)	L588P	probably damaging	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Itgb1	T	G	8: 129,449,335 (GRCm39)	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,752,159 (GRCm39)		probably benign	Het
Map7d1	A	T	4: 126,130,424 (GRCm39)		probably null	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Med13l	A	G	5: 118,862,115 (GRCm39)	T353A	probably benign	Het
Mgat4b	T	C	11: 50,121,908 (GRCm39)	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,580,369 (GRCm39)	W211R	probably damaging	Het
Morc2a	T	G	11: 3,635,907 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Ndufa10	A	T	1: 92,390,850 (GRCm39)	Y233*	probably null	Het
Nek8	C	T	11: 78,062,033 (GRCm39)	S237N	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 125,990,507 (GRCm39)	S165P	probably benign	Het
Nsd2	A	G	5: 34,012,880 (GRCm39)	K404E	possibly damaging	Het
Nsd3	G	T	8: 26,149,870 (GRCm39)	E352*	probably null	Het
Nudt9	A	G	5: 104,194,972 (GRCm39)	T23A	probably benign	Het
Or1e34	T	C	11: 73,778,611 (GRCm39)	M196V	probably benign	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Or8b57	A	G	9: 40,003,315 (GRCm39)	*312Q	probably null	Het
Patj	C	A	4: 98,555,885 (GRCm39)	Q297K	probably damaging	Het
Pelo	A	T	13: 115,225,439 (GRCm39)	C40*	probably null	Het
Pnpla3	G	A	15: 84,058,679 (GRCm39)		probably null	Het
Pramel1	C	A	4: 143,124,016 (GRCm39)	N230K	probably damaging	Het
Psg20	A	C	7: 18,416,432 (GRCm39)	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,896,639 (GRCm39)	F44L	probably benign	Het
Septin2	G	A	1: 93,434,772 (GRCm39)	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,476,499 (GRCm39)		probably benign	Het
Slc12a8	A	G	16: 33,428,583 (GRCm39)	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,485,956 (GRCm39)	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,881,483 (GRCm39)	F335L	probably benign	Het
Slc26a5	T	C	5: 22,039,345 (GRCm39)	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,653,187 (GRCm39)	S144G	probably benign	Het
Spata20	T	A	11: 94,371,435 (GRCm39)	D643V	probably damaging	Het
Spata24	T	C	18: 35,793,515 (GRCm39)	K99R	probably damaging	Het
Taar5	A	G	10: 23,847,607 (GRCm39)	Y335C	probably damaging	Het
Tpr	A	G	1: 150,306,346 (GRCm39)	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,220,782 (GRCm39)	Y360*	probably null	Het
Ybx1	C	A	4: 119,139,551 (GRCm39)	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,445,016 (GRCm39)	K720E	probably benign	Het
Zfp599	A	G	9: 22,161,038 (GRCm39)	S376P	probably benign	Het
Zic2	A	G	14: 122,713,953 (GRCm39)	E289G	probably damaging	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Gbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Gbp3	APN	3	142,271,005 (GRCm39)	unclassified	probably benign
IGL01067:Gbp3	APN	3	142,272,358 (GRCm39)	splice site	probably null
IGL02965:Gbp3	APN	3	142,273,343 (GRCm39)	missense	probably benign	0.31
R0609:Gbp3	UTSW	3	142,273,533 (GRCm39)	missense	probably damaging	0.99
R0671:Gbp3	UTSW	3	142,271,151 (GRCm39)	missense	probably benign	0.17
R0673:Gbp3	UTSW	3	142,271,015 (GRCm39)	missense	probably benign	0.45
R0786:Gbp3	UTSW	3	142,276,732 (GRCm39)	missense	possibly damaging	0.67
R2511:Gbp3	UTSW	3	142,276,343 (GRCm39)	missense	probably benign	0.31
R3909:Gbp3	UTSW	3	142,272,099 (GRCm39)	unclassified	probably benign
R3912:Gbp3	UTSW	3	142,272,099 (GRCm39)	unclassified	probably benign
R4816:Gbp3	UTSW	3	142,273,335 (GRCm39)	missense	probably damaging	0.99
R5822:Gbp3	UTSW	3	142,272,239 (GRCm39)	missense	probably benign	0.01
R6046:Gbp3	UTSW	3	142,273,560 (GRCm39)	missense	possibly damaging	0.81
R6328:Gbp3	UTSW	3	142,274,819 (GRCm39)	missense	probably benign	0.01
R7186:Gbp3	UTSW	3	142,269,923 (GRCm39)	missense	probably damaging	0.97
R7536:Gbp3	UTSW	3	142,272,156 (GRCm39)	missense	probably damaging	1.00
R7543:Gbp3	UTSW	3	142,272,341 (GRCm39)	missense	probably damaging	0.97
R7602:Gbp3	UTSW	3	142,274,822 (GRCm39)	missense	probably benign	0.00
R7677:Gbp3	UTSW	3	142,266,264 (GRCm39)	start gained	probably benign
R7764:Gbp3	UTSW	3	142,271,024 (GRCm39)	missense	probably benign	0.37
R7923:Gbp3	UTSW	3	142,273,373 (GRCm39)	missense	probably damaging	1.00
R9099:Gbp3	UTSW	3	142,271,048 (GRCm39)	missense	probably benign	0.02
R9102:Gbp3	UTSW	3	142,273,586 (GRCm39)	missense	probably benign	0.01
R9440:Gbp3	UTSW	3	142,272,335 (GRCm39)	missense	possibly damaging	0.63
R9459:Gbp3	UTSW	3	142,270,707 (GRCm39)	critical splice acceptor site	probably null
R9760:Gbp3	UTSW	3	142,276,283 (GRCm39)	missense	probably benign	0.01
X0025:Gbp3	UTSW	3	142,272,193 (GRCm39)	missense	probably benign	0.42
X0062:Gbp3	UTSW	3	142,267,535 (GRCm39)	missense	probably damaging	1.00
Z1176:Gbp3	UTSW	3	142,267,624 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCTGTTCCTCAATTGCTGAACC -3'
(R):5'- GCGAAGACAGTACCTCACCTTTTCTAC -3'

Sequencing Primer
(F):5'- ACACAGTCTACTTTGAGGAGTTGC -3'
(R):5'- ACCTTTTCTACATCACCAAGGC -3'

Posted On

2013-04-12