Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00473:Gbp6'

332436

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbp6

Ensembl Gene

ENSMUSG00000104713

Gene Name

guanylate binding protein 6

Synonyms

Mpa2l

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL00473

Quality Score

Status

Chromosome

Chromosomal Location

105270702-105293698 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 105274279 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 520 (K520*)

Ref Sequence

ENSEMBL: ENSMUSP00000142518 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000050011
AA Change: K520*

SMART Domains

Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: K520*

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 null
Transcript: ENSMUST00000196520
AA Change: K520*

SMART Domains

Protein: ENSMUSP00000142518
Gene: ENSMUSG00000104713
AA Change: K520*

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	C	T	4: 35,213,616	G178E	possibly damaging	Het
Arcn1	A	G	9: 44,757,147	V264A	probably benign	Het
Asap1	T	C	15: 64,173,215		probably benign	Het
Brpf1	A	C	6: 113,316,684	Q571H	probably damaging	Het
Creb3	G	T	4: 43,565,517	R232L	probably benign	Het
Cst10	G	T	2: 149,405,373	S3I	unknown	Het
Cyp4a14	A	G	4: 115,489,952		probably benign	Het
Daxx	C	T	17: 33,911,607	Q199*	probably null	Het
Eml5	A	G	12: 98,805,492		probably benign	Het
Gcfc2	T	A	6: 81,944,374	C454S	probably damaging	Het
Gm9894	T	A	13: 67,765,117		noncoding transcript	Het
Gpr15	C	T	16: 58,718,078	C216Y	probably damaging	Het
Gzmn	T	C	14: 56,166,979	K134E	probably benign	Het
Kat2b	T	G	17: 53,663,623	I679S	possibly damaging	Het
Klhl10	A	G	11: 100,456,414	Y478C	probably damaging	Het
Mapt	A	G	11: 104,287,183	D54G	probably damaging	Het
Mocs1	A	G	17: 49,433,201	E52G	probably benign	Het
Plekhn1	T	G	4: 156,223,363	T369P	probably damaging	Het
Prdm6	T	A	18: 53,540,285	F172L	probably benign	Het
Prl7b1	A	T	13: 27,604,590	V94D	probably damaging	Het
Rasal2	T	C	1: 157,147,817	T1116A	probably benign	Het
Rreb1	A	T	13: 37,930,791	K709*	probably null	Het
Ruvbl1	A	T	6: 88,491,568	R357W	probably damaging	Het
Slc4a5	T	C	6: 83,296,597	L973P	probably damaging	Het
Srp72	A	G	5: 76,984,176	Y234C	probably damaging	Het
Synrg	G	A	11: 84,039,246	M1070I	probably damaging	Het
Zan	A	T	5: 137,464,250	I889K	possibly damaging	Het
Zbtb40	G	A	4: 136,987,340	T1046M	probably damaging	Het
Zfp978	A	G	4: 147,390,860	N288S	probably benign	Het
Zfpm2	A	T	15: 41,099,287	K247M	probably damaging	Het

Other mutations in Gbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01721:Gbp6	APN	5	105274207	missense	probably benign	0.01
IGL02310:Gbp6	APN	5	105290975	missense	probably benign	0.00
IGL02432:Gbp6	APN	5	105274362	missense	probably benign
R5703:Gbp6	UTSW	5	105273281	missense	probably benign	0.00

Posted On

2015-08-05