Mutagenetix > Incidental Mutation

Incidental Mutation 'R0647:Gbp11'

57254

Institutional Source

Beutler Lab

Gene Symbol

Gbp11

Ensembl Gene

ENSMUSG00000092021

Gene Name

guanylate binding protein 11

Synonyms

Gm7141

MMRRC Submission

038832-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0647 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

105323042-105346472 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105330964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 203 (K203E)

Ref Sequence

ENSEMBL: ENSMUSP00000098520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100960] [ENSMUST00000171587]

AlphaFold

A9YVJ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100960
AA Change: K203E

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098520
Gene: ENSMUSG00000092021
AA Change: K203E

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	1.5e-122	PFAM
Pfam:GBP_C	281	574	3.4e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171587
AA Change: K203E

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132552
Gene: ENSMUSG00000092021
AA Change: K203E

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	4.9e-117	PFAM
Pfam:GBP_C	281	442	2.7e-75	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	A	14: 8,536,655	D184V	possibly damaging	Het
Adamts2	C	A	11: 50,603,438	T113K	probably damaging	Het
Adgre1	T	A	17: 57,411,003	N338K	probably damaging	Het
Aggf1	A	T	13: 95,371,656		probably null	Het
Apc2	A	T	10: 80,304,928	I206F	probably damaging	Het
Carmil3	T	C	14: 55,502,435		probably null	Het
Ccdc110	A	C	8: 45,943,388	E772A	probably damaging	Het
Cdh23	A	G	10: 60,307,902	F2977L	probably damaging	Het
Cdh23	A	T	10: 60,323,374	Y2207*	probably null	Het
Chd4	T	A	6: 125,109,123	N908K	probably damaging	Het
Chst9	A	G	18: 15,452,669	I279T	probably damaging	Het
Ctnna3	A	T	10: 63,820,424	N261I	probably benign	Het
Dlgap2	A	T	8: 14,727,591	S279C	possibly damaging	Het
Dock4	G	A	12: 40,710,884	E524K	probably damaging	Het
Fabp12	T	A	3: 10,246,036	N122I	possibly damaging	Het
Fam184b	T	C	5: 45,584,590	T100A	probably benign	Het
Fbxl5	T	C	5: 43,768,069	D176G	probably damaging	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Foxe1	A	G	4: 46,344,477	N95S	possibly damaging	Het
Frem3	A	G	8: 80,615,185	E1369G	probably damaging	Het
Frmpd4	C	T	X: 167,489,010	E483K	probably damaging	Het
Gm10334	A	T	6: 41,443,341	F150L	probably benign	Het
Hs3st6	C	T	17: 24,758,160	R205C	probably damaging	Het
Ifitm10	C	T	7: 142,356,035	S179N	probably damaging	Het
Irx2	A	C	13: 72,630,680	N121T	probably damaging	Het
Itih1	A	T	14: 30,935,863	V417E	probably damaging	Het
Itpr1	A	C	6: 108,383,698	E695A	probably damaging	Het
Kif1c	T	A	11: 70,726,141	I755K	probably damaging	Het
Lamb3	A	G	1: 193,330,796	E443G	probably damaging	Het
Lrp1	G	C	10: 127,571,477	T1865R	probably damaging	Het
Lrrc8b	T	A	5: 105,480,607	I273K	possibly damaging	Het
Ly9	T	C	1: 171,599,808	Y393C	probably damaging	Het
Mphosph8	T	C	14: 56,674,405	V295A	probably benign	Het
Nlrp5	T	A	7: 23,417,707	D269E	probably damaging	Het
Olfr1294	A	G	2: 111,537,359	V310A	probably benign	Het
Olfr398	G	A	11: 73,983,771	A279V	probably damaging	Het
Olfr469	T	A	7: 107,823,011	I153F	probably benign	Het
Olfr654	T	G	7: 104,588,115	F104V	probably damaging	Het
Olfr720	T	G	14: 14,175,858	T75P	probably benign	Het
Otud3	A	G	4: 138,913,637	L64P	probably damaging	Het
Pcdh17	A	T	14: 84,447,773	H560L	possibly damaging	Het
Pcdhb21	T	C	18: 37,513,860	V14A	probably damaging	Het
Rbfox1	A	T	16: 7,224,384	Q14L	probably damaging	Het
Rbm44	A	G	1: 91,156,928	D665G	probably benign	Het
Rc3h2	C	T	2: 37,409,530	V163M	probably damaging	Het
Sash1	T	A	10: 8,729,552	R1025W	probably damaging	Het
Sgpl1	A	G	10: 61,113,488	S146P	probably damaging	Het
Slc27a2	G	A	2: 126,587,916	D615N	probably benign	Het
Smap1	A	G	1: 23,853,478	I135T	probably damaging	Het
Snapc3	A	G	4: 83,450,229	D321G	probably damaging	Het
St6galnac4	C	T	2: 32,589,448	R6C	probably damaging	Het
Syne2	C	T	12: 75,888,203	P153L	probably benign	Het
Tiprl	A	G	1: 165,222,523		probably null	Het
Tmem94	A	G	11: 115,796,795	N1160S	probably damaging	Het
Trim65	G	A	11: 116,128,210	R168C	possibly damaging	Het
Txndc16	A	T	14: 45,169,275	I241N	probably damaging	Het
Txndc16	T	A	14: 45,165,361	R101*	probably null	Het
Ugt2b38	A	G	5: 87,423,469	S235P	probably benign	Het
Ugt3a1	A	T	15: 9,310,549	M306L	probably benign	Het
Vmn1r23	T	A	6: 57,926,184	Y203F	probably benign	Het
Vmn2r3	T	A	3: 64,275,625	I218F	probably damaging	Het
Wdfy4	A	G	14: 33,109,699	C857R	possibly damaging	Het
Zfp493	A	C	13: 67,783,875	K31T	possibly damaging	Het

Other mutations in Gbp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Gbp11	APN	5	105327616	critical splice acceptor site	probably null
IGL01347:Gbp11	APN	5	105331328	splice site	probably benign
IGL01762:Gbp11	APN	5	105327607	missense	probably benign
IGL02157:Gbp11	APN	5	105327508	missense	possibly damaging	0.95
Quilt	UTSW	5	105325508	missense	probably damaging	1.00
Tilted	UTSW	5	105331053	missense	probably damaging	1.00
R0550:Gbp11	UTSW	5	105343750	missense	probably benign	0.28
R1530:Gbp11	UTSW	5	105327489	missense	probably damaging	0.99
R1612:Gbp11	UTSW	5	105326596	missense	possibly damaging	0.72
R1677:Gbp11	UTSW	5	105327411	missense	probably damaging	1.00
R1738:Gbp11	UTSW	5	105326644	missense	probably benign	0.02
R2063:Gbp11	UTSW	5	105328584	nonsense	probably null
R2869:Gbp11	UTSW	5	105331000	missense	probably benign	0.00
R2869:Gbp11	UTSW	5	105331000	missense	probably benign	0.00
R2870:Gbp11	UTSW	5	105331000	missense	probably benign	0.00
R2870:Gbp11	UTSW	5	105331000	missense	probably benign	0.00
R2873:Gbp11	UTSW	5	105331000	missense	probably benign	0.00
R3915:Gbp11	UTSW	5	105331112	missense	probably damaging	1.00
R4854:Gbp11	UTSW	5	105325508	missense	probably damaging	1.00
R5140:Gbp11	UTSW	5	105331053	missense	probably damaging	1.00
R5534:Gbp11	UTSW	5	105331038	missense	probably damaging	1.00
R6091:Gbp11	UTSW	5	105331388	missense	possibly damaging	0.95
R6336:Gbp11	UTSW	5	105325489
R6351:Gbp11	UTSW	5	105327598	missense	probably benign	0.07
R6956:Gbp11	UTSW	5	105328375	critical splice donor site	probably null
R7371:Gbp11	UTSW	5	105342105	missense	probably benign	0.06
R7393:Gbp11	UTSW	5	105327577	missense	possibly damaging	0.60
R7410:Gbp11	UTSW	5	105343908	missense	probably damaging	1.00
R7443:Gbp11	UTSW	5	105330950	critical splice donor site	probably null
R7898:Gbp11	UTSW	5	105324932	missense	probably benign	0.00
R8465:Gbp11	UTSW	5	105325062	missense	probably benign	0.00
R8467:Gbp11	UTSW	5	105327591	missense	probably damaging	1.00
R8672:Gbp11	UTSW	5	105343809	missense	probably damaging	1.00
R8858:Gbp11	UTSW	5	105325526	nonsense	probably null
R8960:Gbp11	UTSW	5	105331385	missense	probably damaging	0.98
R9097:Gbp11	UTSW	5	105326481	makesense	probably null
R9232:Gbp11	UTSW	5	105328424	missense	possibly damaging	0.76
R9380:Gbp11	UTSW	5	105327336	missense	probably benign	0.00
R9400:Gbp11	UTSW	5	105330975	missense	probably damaging	1.00
R9438:Gbp11	UTSW	5	105326605	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCAAAGACCTATCAGCACTTCTGC -3'
(R):5'- TGAATATGGACTCACTGCCCTGCC -3'

Sequencing Primer
(F):5'- TGCAAACCTCCATCCCATTGG -3'
(R):5'- AGCCAAGTGCCAGTTATGTC -3'

Posted On

2013-07-11