Mutagenetix > Incidental Mutation

Incidental Mutation 'R6091:Gbp11'

485917

Institutional Source

Beutler Lab

Gene Symbol

Gbp11

Ensembl Gene

ENSMUSG00000092021

Gene Name

guanylate binding protein 11

Synonyms

Gm7141

MMRRC Submission

044248-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6091 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105323042-105346472 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105331388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 123 (T123N)

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: T123N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098520
Gene: ENSMUSG00000092021
AA Change: T123N

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

possibly damaging
Transcript: ENSMUST00000171587
AA Change: T123N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132552
Gene: ENSMUSG00000092021
AA Change: T123N

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.8%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	G	2: 35,362,336 (GRCm38)	T50P	possibly damaging	Het
Adad1	A	G	3: 37,084,969 (GRCm38)	E396G	possibly damaging	Het
Adamtsl3	T	A	7: 82,465,621 (GRCm38)	C232S	probably damaging	Het
AI606181	T	C	19: 41,593,624 (GRCm38)	S78P	unknown	Het
Amph	T	A	13: 19,125,123 (GRCm38)	M457K	probably benign	Het
Ano1	A	T	7: 144,669,434 (GRCm38)	M174K	probably benign	Het
C3	T	A	17: 57,221,967 (GRCm38)	K632*	probably null	Het
Cep170	C	T	1: 176,755,831 (GRCm38)	G994D	probably damaging	Het
Chd7	T	C	4: 8,751,875 (GRCm38)	V124A	probably damaging	Het
Chd9	A	G	8: 91,035,063 (GRCm38)	K2259E	probably damaging	Het
Col7a1	A	G	9: 108,955,334 (GRCm38)	T137A	unknown	Het
Dcc	C	T	18: 71,809,114 (GRCm38)	V311I	probably benign	Het
Ddx42	A	T	11: 106,234,970 (GRCm38)	Q282L	probably damaging	Het
Fcgbp	A	G	7: 28,104,965 (GRCm38)	T1833A	possibly damaging	Het
Fpr-rs3	A	G	17: 20,624,270 (GRCm38)	I203T	probably benign	Het
Frem1	A	G	4: 82,900,559 (GRCm38)	I2139T	probably benign	Het
Frmpd2	T	C	14: 33,522,863 (GRCm38)	V546A	probably damaging	Het
Hs3st1	G	A	5: 39,614,664 (GRCm38)	P212L	probably damaging	Het
Ifnb1	T	A	4: 88,522,576 (GRCm38)	M67L	probably benign	Het
Ighv1-54	T	C	12: 115,193,877 (GRCm38)	N50S	probably benign	Het
Ikzf4	G	A	10: 128,634,673 (GRCm38)	T326I	probably benign	Het
Ints2	A	T	11: 86,236,603 (GRCm38)	V501E	probably damaging	Het
Mfsd1	C	A	3: 67,599,937 (GRCm38)		probably null	Het
Mroh2a	GCCC	GC	1: 88,232,257 (GRCm38)		probably null	Het
Mrps11	G	A	7: 78,788,718 (GRCm38)	A73T	possibly damaging	Het
Mterf4	T	C	1: 93,301,569 (GRCm38)	E311G	probably damaging	Het
Mx2	A	G	16: 97,546,435 (GRCm38)	T176A	probably damaging	Het
Mycbp2	A	C	14: 103,223,046 (GRCm38)	L1495R	probably damaging	Het
Myo3b	A	G	2: 70,238,769 (GRCm38)	T451A	probably benign	Het
Myrfl	T	C	10: 116,849,206 (GRCm38)	T90A	probably benign	Het
Nbeal1	A	G	1: 60,181,556 (GRCm38)		probably benign	Het
Ncor1	A	G	11: 62,419,617 (GRCm38)	L201P	probably damaging	Het
Nfxl1	G	T	5: 72,514,190 (GRCm38)	L909I	probably benign	Het
Nr3c1	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	18: 39,486,958 (GRCm38)		probably benign	Het
Olfr1107	T	A	2: 87,071,361 (GRCm38)	S258C	probably benign	Het
Plscr5	A	G	9: 92,204,384 (GRCm38)	T136A	probably benign	Het
Ppp1r3a	G	A	6: 14,719,340 (GRCm38)	T525I	probably benign	Het
Ptprg	G	A	14: 12,215,979 (GRCm38)	G1143R	probably damaging	Het
Rbm47	G	C	5: 66,026,283 (GRCm38)	R326G	probably damaging	Het
Ryr1	T	C	7: 29,071,973 (GRCm38)	T2541A	probably benign	Het
Sall1	A	G	8: 89,028,619 (GRCm38)	L1244P	probably damaging	Het
Sec16a	G	A	2: 26,426,470 (GRCm38)	H1673Y	probably damaging	Het
Slc22a19	A	G	19: 7,711,063 (GRCm38)	I44T	probably benign	Het
Snap91	T	A	9: 86,839,628 (GRCm38)	N53Y	probably damaging	Het
Sorcs1	T	C	19: 50,288,101 (GRCm38)	T338A	possibly damaging	Het
Taf6l	T	C	19: 8,778,556 (GRCm38)	T243A	probably benign	Het
Tex10	T	C	4: 48,459,891 (GRCm38)	R487G	probably damaging	Het
Tfcp2	G	T	15: 100,512,313 (GRCm38)	T391N	probably damaging	Het
Tnxb	G	A	17: 34,710,364 (GRCm38)	V2794M	probably damaging	Het
Ush2a	T	G	1: 188,399,803 (GRCm38)	C741G	probably damaging	Het
Vmn1r3	T	A	4: 3,184,684 (GRCm38)	I208F	probably damaging	Het
Vmn2r28	T	A	7: 5,493,791 (GRCm38)	I21F	possibly damaging	Het
Vmn2r93	A	G	17: 18,325,696 (GRCm38)	D610G	probably benign	Het
Wbp1	T	C	6: 83,119,487 (GRCm38)	S229G	probably benign	Het
Xirp1	A	G	9: 120,017,963 (GRCm38)	V618A	probably benign	Het
Zbtb32	A	G	7: 30,591,829 (GRCm38)	S14P	possibly damaging	Het
Zfp24	A	G	18: 24,014,212 (GRCm38)	S348P	probably damaging	Het

Other mutations in Gbp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Gbp11	APN	5	105,327,616 (GRCm38)	critical splice acceptor site	probably null
IGL01347:Gbp11	APN	5	105,331,328 (GRCm38)	splice site	probably benign
IGL01762:Gbp11	APN	5	105,327,607 (GRCm38)	missense	probably benign
IGL02157:Gbp11	APN	5	105,327,508 (GRCm38)	missense	possibly damaging	0.95
Quilt	UTSW	5	105,325,508 (GRCm38)	missense	probably damaging	1.00
Tilted	UTSW	5	105,331,053 (GRCm38)	missense	probably damaging	1.00
R0550:Gbp11	UTSW	5	105,343,750 (GRCm38)	missense	probably benign	0.28
R0647:Gbp11	UTSW	5	105,330,964 (GRCm38)	missense	possibly damaging	0.93
R1530:Gbp11	UTSW	5	105,327,489 (GRCm38)	missense	probably damaging	0.99
R1612:Gbp11	UTSW	5	105,326,596 (GRCm38)	missense	possibly damaging	0.72
R1677:Gbp11	UTSW	5	105,327,411 (GRCm38)	missense	probably damaging	1.00
R1738:Gbp11	UTSW	5	105,326,644 (GRCm38)	missense	probably benign	0.02
R2063:Gbp11	UTSW	5	105,328,584 (GRCm38)	nonsense	probably null
R2869:Gbp11	UTSW	5	105,331,000 (GRCm38)	missense	probably benign	0.00
R2869:Gbp11	UTSW	5	105,331,000 (GRCm38)	missense	probably benign	0.00
R2870:Gbp11	UTSW	5	105,331,000 (GRCm38)	missense	probably benign	0.00
R2870:Gbp11	UTSW	5	105,331,000 (GRCm38)	missense	probably benign	0.00
R2873:Gbp11	UTSW	5	105,331,000 (GRCm38)	missense	probably benign	0.00
R3915:Gbp11	UTSW	5	105,331,112 (GRCm38)	missense	probably damaging	1.00
R4854:Gbp11	UTSW	5	105,325,508 (GRCm38)	missense	probably damaging	1.00
R5140:Gbp11	UTSW	5	105,331,053 (GRCm38)	missense	probably damaging	1.00
R5534:Gbp11	UTSW	5	105,331,038 (GRCm38)	missense	probably damaging	1.00
R6336:Gbp11	UTSW	5	105,325,489 (GRCm38)
R6351:Gbp11	UTSW	5	105,327,598 (GRCm38)	missense	probably benign	0.07
R6956:Gbp11	UTSW	5	105,328,375 (GRCm38)	critical splice donor site	probably null
R7371:Gbp11	UTSW	5	105,342,105 (GRCm38)	missense	probably benign	0.06
R7393:Gbp11	UTSW	5	105,327,577 (GRCm38)	missense	possibly damaging	0.60
R7410:Gbp11	UTSW	5	105,343,908 (GRCm38)	missense	probably damaging	1.00
R7443:Gbp11	UTSW	5	105,330,950 (GRCm38)	critical splice donor site	probably null
R7898:Gbp11	UTSW	5	105,324,932 (GRCm38)	missense	probably benign	0.00
R8465:Gbp11	UTSW	5	105,325,062 (GRCm38)	missense	probably benign	0.00
R8467:Gbp11	UTSW	5	105,327,591 (GRCm38)	missense	probably damaging	1.00
R8672:Gbp11	UTSW	5	105,343,809 (GRCm38)	missense	probably damaging	1.00
R8858:Gbp11	UTSW	5	105,325,526 (GRCm38)	nonsense	probably null
R8960:Gbp11	UTSW	5	105,331,385 (GRCm38)	missense	probably damaging	0.98
R9097:Gbp11	UTSW	5	105,326,481 (GRCm38)	makesense	probably null
R9232:Gbp11	UTSW	5	105,328,424 (GRCm38)	missense	possibly damaging	0.76
R9380:Gbp11	UTSW	5	105,327,336 (GRCm38)	missense	probably benign	0.00
R9400:Gbp11	UTSW	5	105,330,975 (GRCm38)	missense	probably damaging	1.00
R9438:Gbp11	UTSW	5	105,326,605 (GRCm38)	nonsense	probably null

Predicted Primers

Posted On

2017-08-16