Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Gbp11'

514234

Institutional Source

Beutler Lab

Gene Symbol

Gbp11

Ensembl Gene

ENSMUSG00000092021

Gene Name

guanylate binding protein 11

Synonyms

Gm7141

Accession Numbers

Essential gene?

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

Stock #

R6351 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

105323042-105346472 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105327598 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 295 (T295A)

Ref Sequence

ENSEMBL: ENSMUSP00000098520 (fasta)

Gene Model

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

AlphaFold

A9YVJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000100960
AA Change: T295A

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000098520
Gene: ENSMUSG00000092021
AA Change: T295A

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: T295A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000132552
Gene: ENSMUSG00000092021
AA Change: T295A

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: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	C	T	19: 11,142,401 (GRCm38)	G14D	probably damaging	Het
4932438A13Rik	G	A	3: 36,908,228 (GRCm38)	A493T	probably damaging	Het
Acaa1a	C	A	9: 119,341,564 (GRCm38)	S17*	probably null	Het
Adamts16	T	A	13: 70,836,203 (GRCm38)	S114C	probably damaging	Het
Agpat5	T	C	8: 18,846,708 (GRCm38)	V50A	probably benign	Het
Agrn	T	C	4: 156,179,434 (GRCm38)	N124S	probably benign	Het
AI481877	T	C	4: 59,069,317 (GRCm38)	D703G	probably benign	Het
Ak8	T	C	2: 28,735,626 (GRCm38)	I227T	probably benign	Het
Akap6	A	G	12: 53,142,025 (GRCm38)	E2074G	probably damaging	Het
Apc	T	A	18: 34,312,212 (GRCm38)	S702R	probably damaging	Het
Ascc3	T	C	10: 50,720,673 (GRCm38)	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,385,832 (GRCm38)	F318I	probably damaging	Het
Bnc2	T	C	4: 84,293,143 (GRCm38)	T397A	probably benign	Het
Bpifb4	C	T	2: 153,957,134 (GRCm38)	T528I	probably damaging	Het
Brinp3	A	G	1: 146,901,585 (GRCm38)	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,385,135 (GRCm38)	S372P	probably benign	Het
Cdhr2	A	G	13: 54,726,776 (GRCm38)	H887R	probably benign	Het
Clcn6	C	T	4: 148,017,500 (GRCm38)	V376I	probably benign	Het
Cntln	T	G	4: 85,115,354 (GRCm38)	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,892,644 (GRCm38)	D1564G	probably benign	Het
Cux1	A	T	5: 136,309,792 (GRCm38)	S582T	probably damaging	Het
Cwh43	G	A	5: 73,411,905 (GRCm38)	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,086,769 (GRCm38)	F781L	probably damaging	Het
Dsc3	G	T	18: 19,966,291 (GRCm38)	H723N	probably benign	Het
Ear10	A	T	14: 43,923,055 (GRCm38)	V105D	probably damaging	Het
Ecel1	A	G	1: 87,149,509 (GRCm38)	V659A	possibly damaging	Het
Eogt	A	T	6: 97,120,194 (GRCm38)	F316I	probably damaging	Het
Etaa1	T	C	11: 17,947,188 (GRCm38)	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,469,708 (GRCm38)	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,941,742 (GRCm38)	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,977,599 (GRCm38)	Y178H	probably damaging	Het
Fat1	A	T	8: 45,033,495 (GRCm38)	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,938,398 (GRCm38)	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,992,684 (GRCm38)	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,413,780 (GRCm38)	T299A	probably damaging	Het
Glcci1	C	T	6: 8,573,203 (GRCm38)	Q44*	probably null	Het
Gpc5	A	T	14: 115,399,200 (GRCm38)	T432S	probably benign	Het
Grhl1	G	A	12: 24,584,858 (GRCm38)	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,709 (GRCm38)		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Ints9	A	G	14: 64,993,007 (GRCm38)	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,375,112 (GRCm38)	N130I	probably damaging	Het
Krba1	T	C	6: 48,414,128 (GRCm38)	V717A	probably benign	Het
Lrp12	T	A	15: 39,878,188 (GRCm38)	D377V	probably damaging	Het
Magi1	G	T	6: 93,943,229 (GRCm38)	D135E	possibly damaging	Het
Map10	T	A	8: 125,671,245 (GRCm38)	L459Q	probably damaging	Het
Mitf	A	G	6: 98,003,912 (GRCm38)	D238G	possibly damaging	Het
Mylk	G	T	16: 34,921,971 (GRCm38)	R951L	probably benign	Het
Nacad	T	A	11: 6,600,165 (GRCm38)	K1009*	probably null	Het
Nacad	T	A	11: 6,599,235 (GRCm38)	D1272V	probably damaging	Het
Ncor1	T	C	11: 62,373,298 (GRCm38)	D786G	probably benign	Het
Oas2	G	A	5: 120,748,538 (GRCm38)	R188C	probably benign	Het
Odf2l	A	G	3: 145,135,718 (GRCm38)	I300V	probably benign	Het
Olfr1502	A	G	19: 13,861,822 (GRCm38)	T10A	probably benign	Het
Olfr338	T	A	2: 36,377,196 (GRCm38)	V140D	possibly damaging	Het
Olfr484	A	G	7: 108,124,430 (GRCm38)	S278P	probably damaging	Het
Olfr624	A	G	7: 103,670,956 (GRCm38)	I25T	possibly damaging	Het
Olfr64	A	T	7: 103,893,135 (GRCm38)	L200*	probably null	Het
Pes1	T	A	11: 3,978,865 (GRCm38)	D574E	probably benign	Het
Phf20	C	T	2: 156,294,210 (GRCm38)	R650C	possibly damaging	Het
Pias4	G	A	10: 81,157,264 (GRCm38)	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,211,951 (GRCm38)	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,102,167 (GRCm38)		probably null	Het
Plekha7	A	G	7: 116,176,898 (GRCm38)	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,157,770 (GRCm38)	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 25,011,564 (GRCm38)	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,554,879 (GRCm38)	S279C	probably damaging	Het
Ptprq	T	A	10: 107,708,668 (GRCm38)	T334S	probably damaging	Het
Rab39	T	C	9: 53,686,521 (GRCm38)	D148G	probably benign	Het
Reep3	A	T	10: 67,034,653 (GRCm38)	F121L	probably benign	Het
Reln	G	T	5: 21,901,663 (GRCm38)	C3236*	probably null	Het
Rrp8	C	T	7: 105,734,809 (GRCm38)	C162Y	probably damaging	Het
Scrib	C	A	15: 76,064,986 (GRCm38)	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,489,799 (GRCm38)	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,201,824 (GRCm38)	V63A	possibly damaging	Het
Slc46a1	T	C	11: 78,467,159 (GRCm38)	M346T	probably benign	Het
Sycp2	A	G	2: 178,363,416 (GRCm38)	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,874,759 (GRCm38)	I105F	probably benign	Het
Thumpd1	A	T	7: 119,720,605 (GRCm38)	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,127,853 (GRCm38)	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 69,773,401 (GRCm38)	C85S	probably damaging	Het
Tox	T	C	4: 6,741,536 (GRCm38)	Q148R	probably benign	Het
Tox	T	C	4: 6,697,439 (GRCm38)	T455A	probably benign	Het
Trp53bp1	A	C	2: 121,269,945 (GRCm38)	S109R	probably damaging	Het
Tshz2	A	T	2: 169,884,968 (GRCm38)	T26S	probably benign	Het
Tubb4a	T	A	17: 57,081,016 (GRCm38)	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,401,388 (GRCm38)	V119E	probably damaging	Het
Unk	C	T	11: 116,054,946 (GRCm38)	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,601,278 (GRCm38)	T44I	probably benign	Het
Vstm5	G	A	9: 15,257,533 (GRCm38)	G131D	probably damaging	Het
Wscd1	T	C	11: 71,759,883 (GRCm38)	L12P	probably damaging	Het
Zfp369	T	A	13: 65,296,230 (GRCm38)	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,009,343 (GRCm38)	C302*	probably null	Het
Zfp972	A	T	2: 177,906,935 (GRCm38)		probably null	Het
Zfyve21	C	A	12: 111,827,594 (GRCm38)	A212E	probably benign	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
R6091:Gbp11	UTSW	5	105,331,388 (GRCm38)	missense	possibly damaging	0.95
R6336:Gbp11	UTSW	5	105,325,489 (GRCm38)
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

PCR Primer
(F):5'- CCTTGAAGGAATGCTCCATGAAG -3'
(R):5'- ACTGATAGCTTGCTGAAGGAGG -3'

Sequencing Primer
(F):5'- TGCTCCATGAAGACAGCCATG -3'
(R):5'- ATAGCTTGCTGAAGGAGGTTGTG -3'

Posted On

2018-04-27