Mutagenetix > Incidental Mutations

Incidental Mutation 'R0415:Gbp4'

40223

Institutional Source

Beutler Lab

Gene Symbol

Gbp4

Ensembl Gene

ENSMUSG00000079363

Gene Name

guanylate binding protein 4

Synonyms

Mpa2, Mag-2, Mpa-2

MMRRC Submission

038617-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0415 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

105115767-105139586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105121106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 394 (R394C)

Ref Sequence

ENSEMBL: ENSMUSP00000098522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031235] [ENSMUST00000100961] [ENSMUST00000100962] [ENSMUST00000196204] [ENSMUST00000196677] [ENSMUST00000197799] [ENSMUST00000199629]

AlphaFold

A4UUI3

Predicted Effect

probably benign
Transcript: ENSMUST00000031235

SMART Domains

Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438

Domain	Start	End	E-Value	Type
Pfam:GBP	16	213	5.4e-91	PFAM
Pfam:GBP_C	206	493	1e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100961

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	3.8e-124	PFAM
Pfam:GBP_C	281	575	4.5e-115	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100962
AA Change: R394C

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098522
Gene: ENSMUSG00000079363
AA Change: R394C

Domain	Start	End	E-Value	Type
Pfam:GBP	16	287	4.2e-91	PFAM
Pfam:GBP_C	289	583	4.4e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196204

SMART Domains

Protein: ENSMUSP00000142528
Gene: ENSMUSG00000079363

Domain	Start	End	E-Value	Type
Pfam:GBP	16	76	1e-19	PFAM
low complexity region	82	103	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196677

SMART Domains

Protein: ENSMUSP00000142795
Gene: ENSMUSG00000079363

Domain	Start	End	E-Value	Type
Pfam:GBP	1	149	3e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197799

SMART Domains

Protein: ENSMUSP00000142493
Gene: ENSMUSG00000079363

Domain	Start	End	E-Value	Type
Pfam:GBP	16	184	3.3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199629

SMART Domains

Protein: ENSMUSP00000143689
Gene: ENSMUSG00000079363

Domain	Start	End	E-Value	Type
Pfam:GBP	1	127	1.5e-43	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 23,831,050		noncoding transcript	Het
Acox2	A	G	14: 8,243,835		probably benign	Het
Adgb	T	C	10: 10,431,067		probably null	Het
Adgra3	C	A	5: 49,961,757		probably benign	Het
Adgre4	G	A	17: 55,852,288	V658I	probably benign	Het
Ahnak	A	G	19: 9,012,871		probably benign	Het
Anapc2	A	G	2: 25,278,325	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,613,127		probably benign	Het
Atf7ip	C	T	6: 136,560,012	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,368,830		probably benign	Het
Camk1	A	T	6: 113,341,891	Y20*	probably null	Het
Ccdc40	T	C	11: 119,232,118	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,712,615	S1380T	probably benign	Het
Cfap57	A	T	4: 118,569,431	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 106,075,080	V540I	probably damaging	Het
Cst9	T	A	2: 148,838,442		probably benign	Het
Cul5	C	T	9: 53,667,070	V73I	probably benign	Het
Cxcl16	T	A	11: 70,458,748	K84*	probably null	Het
Cyp2c29	T	C	19: 39,329,095		probably benign	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dip2c	C	T	13: 9,568,289		probably benign	Het
Dis3	A	T	14: 99,087,456	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,789,048	L3*	probably null	Het
Dopey1	T	A	9: 86,506,502	L480M	probably damaging	Het
Eml6	A	G	11: 29,749,392	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,180,774	N115S	probably damaging	Het
Fryl	T	C	5: 73,098,414	Y758C	probably damaging	Het
Ggnbp2	A	C	11: 84,833,225		probably benign	Het
Gm7137	A	G	10: 77,788,173		probably benign	Het
Gstm2	T	A	3: 107,984,006	Q132L	probably benign	Het
Habp2	T	C	19: 56,317,717		probably benign	Het
Hectd2	T	C	19: 36,584,884		probably benign	Het
Htr6	A	G	4: 139,062,081	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,287,910	D199G	unknown	Het
Itih2	A	G	2: 10,105,615		probably benign	Het
Kcnab2	A	G	4: 152,395,136	F248S	probably benign	Het
Kcnc4	T	C	3: 107,445,433	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,262,975		probably null	Het
Kndc1	C	T	7: 139,930,124	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,227,006	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,811,865	L47P	probably damaging	Het
Lyst	T	C	13: 13,711,610		probably benign	Het
Macrod2	G	A	2: 142,210,145		probably null	Het
Micalcl	C	T	7: 112,381,028	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,841,339		probably benign	Het
Msh3	A	G	13: 92,346,786	V283A	possibly damaging	Het
Nup205	T	C	6: 35,214,634		probably benign	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr1023	A	T	2: 85,887,438	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055	H191L	probably benign	Het
Olfr229	A	G	9: 39,909,983	Y60C	probably damaging	Het
Olfr78	C	T	7: 102,742,087	M305I	probably benign	Het
Olfr893	A	T	9: 38,209,973	M305L	probably benign	Het
Pard3	G	A	8: 127,610,566	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886	A120V	probably damaging	Het
Pcsk6	C	T	7: 66,033,874	R746C	probably damaging	Het
Pif1	G	A	9: 65,588,051	C81Y	probably benign	Het
Plcb1	A	G	2: 135,337,499	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,552,097	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,357,336	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,456	Y45C	probably damaging	Het
Pqlc3	C	A	12: 16,997,710		probably benign	Het
Prex1	A	G	2: 166,586,699		probably benign	Het
Pth2r	A	G	1: 65,388,439	M424V	probably benign	Het
Pygm	A	G	19: 6,391,366	R464G	probably benign	Het
Rad51c	A	G	11: 87,397,655	L234P	probably damaging	Het
Rnf145	A	G	11: 44,525,138	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,649,699	I135T	probably damaging	Het
Rnf213	A	T	11: 119,414,469	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,936,913	V27A	possibly damaging	Het
Selenof	T	G	3: 144,577,692	L14R	probably damaging	Het
Sfswap	A	T	5: 129,504,126	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,620,469	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,229,110	T583P	probably benign	Het
Smg1	C	A	7: 118,182,468	A1199S	probably benign	Het
Spint1	A	G	2: 119,245,615	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,149,576	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,730,092		probably benign	Het
Tas2r123	A	T	6: 132,847,838	M233L	probably damaging	Het
Tbcel	C	A	9: 42,444,500	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973	S573A	probably benign	Het
Tmem132c	A	G	5: 127,563,705	E980G	probably damaging	Het
Tmem247	G	T	17: 86,922,322	C197F	probably damaging	Het
Tmem251	T	A	12: 102,744,876	Y119*	probably null	Het
Tmem43	C	A	6: 91,482,318	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,337,132		probably null	Het
Trove2	G	T	1: 143,760,075	N444K	probably benign	Het
Ubr5	T	C	15: 37,972,980	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,293,836	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,900,332	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,387,279	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,961,410	C25G	probably damaging	Het
Xndc1	T	C	7: 102,080,616		probably benign	Het
Zfp282	A	G	6: 47,897,881	D340G	probably damaging	Het
Zfp282	T	A	6: 47,905,053	I558N	possibly damaging	Het
Zfp316	T	A	5: 143,264,491	T56S	unknown	Het
Zfp345	A	G	2: 150,474,559		probably benign	Het

Other mutations in Gbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Gbp4	APN	5	105137021	start codon destroyed	probably null	0.00
IGL01834:Gbp4	APN	5	105125602	missense	probably damaging	1.00
IGL02100:Gbp4	APN	5	105122075	unclassified	probably benign
IGL02119:Gbp4	APN	5	105121042	missense	probably benign	0.14
IGL02364:Gbp4	APN	5	105136874	missense	probably damaging	1.00
IGL03026:Gbp4	APN	5	105120000	missense	possibly damaging	0.88
PIT4651001:Gbp4	UTSW	5	105118423	missense	probably benign	0.08
R0147:Gbp4	UTSW	5	105119496	missense	probably benign	0.17
R0148:Gbp4	UTSW	5	105119496	missense	probably benign	0.17
R0413:Gbp4	UTSW	5	105121106	missense	possibly damaging	0.85
R0478:Gbp4	UTSW	5	105119433	missense	probably benign	0.01
R0546:Gbp4	UTSW	5	105120970	missense	probably damaging	1.00
R0638:Gbp4	UTSW	5	105121840	missense	probably damaging	0.98
R1528:Gbp4	UTSW	5	105121792	splice site	probably null
R1541:Gbp4	UTSW	5	105118409	missense	probably benign
R2099:Gbp4	UTSW	5	105121081	missense	probably damaging	1.00
R2112:Gbp4	UTSW	5	105135176	missense	possibly damaging	0.95
R2994:Gbp4	UTSW	5	105137020	start codon destroyed	probably null	0.86
R4021:Gbp4	UTSW	5	105120923	missense	probably damaging	0.96
R4258:Gbp4	UTSW	5	105136975	missense	probably damaging	1.00
R4489:Gbp4	UTSW	5	105121907	missense	probably damaging	1.00
R5164:Gbp4	UTSW	5	105136877	nonsense	probably null
R5195:Gbp4	UTSW	5	105119532	missense	probably benign	0.00
R5406:Gbp4	UTSW	5	105119521	missense	possibly damaging	0.76
R5550:Gbp4	UTSW	5	105122045	missense	probably damaging	1.00
R5701:Gbp4	UTSW	5	105118399	missense	possibly damaging	0.60
R5814:Gbp4	UTSW	5	105119919	missense	probably benign	0.27
R6128:Gbp4	UTSW	5	105135164	missense	possibly damaging	0.93
R6307:Gbp4	UTSW	5	105123109	nonsense	probably null
R6513:Gbp4	UTSW	5	105123120	missense	possibly damaging	0.69
R6870:Gbp4	UTSW	5	105125578	missense	probably damaging	1.00
R6938:Gbp4	UTSW	5	105135077	missense	probably damaging	0.99
R7063:Gbp4	UTSW	5	105118448	missense	probably damaging	0.96
R7124:Gbp4	UTSW	5	105119959	missense	possibly damaging	0.45
R7457:Gbp4	UTSW	5	105119553	missense	probably damaging	0.98
R7615:Gbp4	UTSW	5	105122982	missense	possibly damaging	0.95
R7877:Gbp4	UTSW	5	105118295	missense	probably benign	0.34
R7905:Gbp4	UTSW	5	105121087	missense	probably damaging	1.00
R8274:Gbp4	UTSW	5	105119472	missense	probably benign	0.01
R8377:Gbp4	UTSW	5	105118462	missense	probably benign	0.02
R8414:Gbp4	UTSW	5	105136837	missense	probably benign	0.05
R8423:Gbp4	UTSW	5	105119934	missense	probably damaging	1.00
R8979:Gbp4	UTSW	5	105119382	missense	probably benign	0.00
S24628:Gbp4	UTSW	5	105121106	missense	possibly damaging	0.85
X0067:Gbp4	UTSW	5	105125625	missense	probably damaging	0.98
Z1088:Gbp4	UTSW	5	105120997	missense	probably damaging	1.00
Z1177:Gbp4	UTSW	5	105119449	nonsense	probably null
Z1177:Gbp4	UTSW	5	105125135	missense	probably null	0.89

Predicted Primers

PCR Primer
(F):5'- CATGTCCATGTAGAGCCTGTGTCC -3'
(R):5'- AGTGTCCTGAGCCCTTTACCCAAG -3'

Sequencing Primer
(F):5'- TCCCCCAGGAACAGAAAATGTTG -3'
(R):5'- ACAGGTTTTTGAGCACCCAAG -3'

Posted On

2013-05-23