Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Gbp11'

541453

Institutional Source

Beutler Lab

Gene Symbol

Gbp11

Ensembl Gene

ENSMUSG00000092021

Gene Name

guanylate binding protein 11

Synonyms

Gm7141

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105323042-105346472 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 105328375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132552 (fasta)

Gene Model

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

AlphaFold

A9YVJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000100960

SMART Domains

Protein: ENSMUSP00000098520
Gene: ENSMUSG00000092021

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 null
Transcript: ENSMUST00000171587

SMART Domains

Protein: ENSMUSP00000132552
Gene: ENSMUSG00000092021

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

Predicted Effect

probably null
Transcript: ENSMUST00000171587

SMART Domains

Protein: ENSMUSP00000132552
Gene: ENSMUSG00000092021

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

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	A	14: 95,882,433	W209R	probably damaging	Het
Aars	G	A	8: 111,055,130	V945M	probably benign	Het
Amotl2	A	G	9: 102,724,768	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,441,175	I86T	possibly damaging	Het
C9	A	T	15: 6,445,464	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,135,899	P661T	probably damaging	Het
Dcdc2a	T	A	13: 25,119,366	S293R	probably benign	Het
Dchs2	T	A	3: 83,353,926	N2500K	probably benign	Het
Dicer1	A	G	12: 104,731,023	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,577,287	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,614,273	S364G	probably damaging	Het
Dpp6	A	T	5: 27,598,821	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,422,267	I440T	probably damaging	Het
Fam155a	T	A	8: 9,770,744	Q92L	probably benign	Het
Fam184b	T	C	5: 45,530,757	T937A	probably damaging	Het
Fam229b	T	A	10: 39,133,847		probably null	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm4858	T	C	3: 93,073,972	V25A	possibly damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
H2-T3	T	A	17: 36,189,371	Y144F	probably damaging	Het
Kel	T	G	6: 41,687,973	D7A	probably damaging	Het
Lrrc7	A	G	3: 158,289,031	V166A	probably benign	Het
Mapt	T	C	11: 104,318,255		probably null	Het
March3	A	G	18: 56,775,981	V244A	probably benign	Het
Mboat1	T	C	13: 30,238,076	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,297,558	D604G	probably damaging	Het
Muc16	T	C	9: 18,645,026	T3324A	unknown	Het
Nat10	T	C	2: 103,734,412	I495V	probably benign	Het
Olfr784	A	T	10: 129,388,297	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,707,600	N75D	probably damaging	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 91,286,313		probably null	Het
Scube1	T	C	15: 83,721,876	Y65C	probably damaging	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Socs7	T	C	11: 97,377,023	S327P	probably benign	Het
Spef2	A	T	15: 9,684,935	D591E	probably damaging	Het
Sult2a6	T	A	7: 14,254,823	D4V	possibly damaging	Het
Tdrd9	A	G	12: 112,036,354		probably benign	Het
Tgm4	G	T	9: 123,064,703	M155I	possibly damaging	Het
Togaram2	T	C	17: 71,729,188	V891A	probably benign	Het
Usp1	A	G	4: 98,931,006	E235G	probably damaging	Het
Usp2	T	A	9: 44,092,756	V533E	probably damaging	Het
Vcan	T	A	13: 89,689,431	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,394,506	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,389,267	C458F	probably 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
R0647:Gbp11	UTSW	5	105330964	missense	possibly damaging	0.93
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
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'- GCTGTAAATACTAATGATGTGGTCTCC -3'
(R):5'- GCATCAGACGTTTCTTTCCAAATCG -3'

Sequencing Primer
(F):5'- ATGTGGTCTCCATTTTTAAAGAAGGG -3'
(R):5'- TCCAAATCGGAAGTGTTTTGTC -3'

Posted On

2018-11-28