Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02432:Gbp6'

293157

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbp6

Ensembl Gene

ENSMUSG00000104713

Gene Name

guanylate binding protein 6

Synonyms

Mpa2l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

IGL02432

Quality Score

Status

Chromosome

Chromosomal Location

105418568-105441564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105422228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 492 (V492E)

Ref Sequence

ENSEMBL: ENSMUSP00000142518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050011] [ENSMUST00000196520] [ENSMUST00000200045]

AlphaFold

A0A0G2JDV3

Predicted Effect

probably benign
Transcript: ENSMUST00000050011
AA Change: V492E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: V492E

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	7.6e-118	PFAM
Pfam:GBP_C	281	575	2.1e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196520
AA Change: V492E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142518
Gene: ENSMUSG00000104713
AA Change: V492E

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	2.8e-124	PFAM
Pfam:GBP_C	281	575	2.1e-117	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199944

Predicted Effect

probably benign
Transcript: ENSMUST00000200045

SMART Domains

Protein: ENSMUSP00000142994
Gene: ENSMUSG00000104713

Domain	Start	End	E-Value	Type
Pfam:GBP	16	62	7.4e-19	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	G	A	2: 151,314,481 (GRCm39)	T399M	probably benign	Het
A830018L16Rik	A	T	1: 11,818,303 (GRCm39)	N321I	probably damaging	Het
Aimp1	T	C	3: 132,379,738 (GRCm39)	T135A	probably benign	Het
Ascc3	T	C	10: 50,576,589 (GRCm39)	M848T	probably damaging	Het
Cry2	T	C	2: 92,244,012 (GRCm39)	D387G	probably damaging	Het
Daxx	G	A	17: 34,131,311 (GRCm39)	D413N	probably benign	Het
Itpr2	T	A	6: 146,226,671 (GRCm39)	M1358L	probably benign	Het
Med13l	T	A	5: 118,876,465 (GRCm39)	D880E	possibly damaging	Het
Mmd2	A	T	5: 142,561,094 (GRCm39)	I47N	probably damaging	Het
Mroh2b	G	A	15: 4,943,668 (GRCm39)	M401I	probably benign	Het
Nrip1	T	C	16: 76,088,668 (GRCm39)	K963R	probably benign	Het
Otop2	A	G	11: 115,219,988 (GRCm39)	H276R	probably damaging	Het
Pxn	T	A	5: 115,683,805 (GRCm39)	D79E	probably damaging	Het
Rho	G	A	6: 115,909,146 (GRCm39)	V61I	probably damaging	Het
Rtp1	A	G	16: 23,250,154 (GRCm39)	Y173C	probably damaging	Het
Slc6a17	T	C	3: 107,400,493 (GRCm39)	D212G	possibly damaging	Het
Stpg1	A	G	4: 135,235,321 (GRCm39)	E54G	probably damaging	Het
Tas2r119	A	G	15: 32,177,853 (GRCm39)	T140A	probably benign	Het
Traf3ip3	C	T	1: 192,866,884 (GRCm39)	C316Y	probably damaging	Het
Ttc28	G	A	5: 111,371,101 (GRCm39)	A517T	probably damaging	Het
Vmn1r30	T	C	6: 58,412,655 (GRCm39)	N59S	probably benign	Het
Vmn2r4	C	T	3: 64,313,821 (GRCm39)	V387M	probably benign	Het

Other mutations in Gbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Gbp6	APN	5	105,422,145 (GRCm39)	nonsense	probably null
IGL01721:Gbp6	APN	5	105,422,073 (GRCm39)	missense	probably benign	0.01
IGL02310:Gbp6	APN	5	105,438,841 (GRCm39)	missense	probably benign	0.00
R5703:Gbp6	UTSW	5	105,421,147 (GRCm39)	missense	probably benign	0.00
R7834:Gbp6	UTSW	5	105,421,131 (GRCm39)	missense	probably benign	0.41

Posted On

2015-04-16