Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03132:Gbp9'

410376

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbp9

Ensembl Gene

ENSMUSG00000029298

Gene Name

guanylate-binding protein 9

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL03132

Quality Score

Status

Chromosome

Chromosomal Location

105224332-105258255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105232819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 278 (T278S)

Ref Sequence

ENSEMBL: ENSMUSP00000098521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031235] [ENSMUST00000031238] [ENSMUST00000100961]

AlphaFold

Q8BTS3

Predicted Effect

probably benign
Transcript: ENSMUST00000031235

SMART Domains

Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438

Domain	Start	End	E-Value	Type
Pfam:GBP	16	213	5.4e-91	PFAM
Pfam:GBP_C	206	493	1e-115	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031238
AA Change: T278S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: T278S

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	1.2e-117	PFAM
Pfam:GBP_C	281	575	4.5e-115	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100961
AA Change: T278S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: T278S

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	3.8e-124	PFAM
Pfam:GBP_C	281	575	4.5e-115	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199453

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	G	A	6: 88,815,941 (GRCm39)	R177C	probably benign	Het
Adam21	C	A	12: 81,607,148 (GRCm39)	G205*	probably null	Het
Baz2b	T	A	2: 59,738,097 (GRCm39)		probably benign	Het
Col6a3	C	T	1: 90,731,615 (GRCm39)	G939D	probably damaging	Het
Csf1r	A	G	18: 61,261,171 (GRCm39)	E749G	probably benign	Het
Dnm3	C	T	1: 161,838,674 (GRCm39)		probably null	Het
Dsg3	A	G	18: 20,657,653 (GRCm39)	D241G	probably damaging	Het
Dst	T	C	1: 34,295,722 (GRCm39)	S6015P	probably benign	Het
Dvl2	T	C	11: 69,896,514 (GRCm39)	S183P	probably benign	Het
Exoc6b	T	C	6: 84,768,246 (GRCm39)	N699S	possibly damaging	Het
Fat2	T	C	11: 55,144,746 (GRCm39)	R4043G	probably benign	Het
Gm2a	T	A	11: 54,994,474 (GRCm39)	I48N	probably damaging	Het
Gorasp2	T	C	2: 70,514,379 (GRCm39)	V232A	probably benign	Het
Gpa33	G	A	1: 165,980,218 (GRCm39)	D94N	probably benign	Het
Il1rap	A	T	16: 26,498,869 (GRCm39)	S123C	probably damaging	Het
Kctd17	T	C	15: 78,319,887 (GRCm39)	S102P	probably damaging	Het
Lamb1	A	G	12: 31,350,333 (GRCm39)		probably null	Het
Mfsd1	T	A	3: 67,495,273 (GRCm39)	I131K	possibly damaging	Het
Pkhd1l1	G	A	15: 44,438,013 (GRCm39)	C3576Y	probably damaging	Het
Pla2g4a	A	T	1: 149,778,035 (GRCm39)		probably benign	Het
Ptpn11	T	A	5: 121,272,878 (GRCm39)	D575V	possibly damaging	Het
Reck	A	T	4: 43,938,898 (GRCm39)	R755*	probably null	Het
Scgb2b21	A	G	7: 33,219,299 (GRCm39)	V35A	possibly damaging	Het
Srpra	G	A	9: 35,125,574 (GRCm39)		probably null	Het
Stk11ip	T	C	1: 75,512,733 (GRCm39)	S1025P	probably benign	Het
Tmprss9	G	A	10: 80,730,699 (GRCm39)	V742M	probably damaging	Het
Trh	T	C	6: 92,220,755 (GRCm39)	T36A	probably benign	Het
Trim35	A	G	14: 66,546,595 (GRCm39)	E454G	probably damaging	Het
Vmn2r99	C	T	17: 19,598,485 (GRCm39)	Q170*	probably null	Het

Other mutations in Gbp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Gbp9	APN	5	105,229,130 (GRCm39)	missense	probably benign	0.01
IGL00419:Gbp9	APN	5	105,241,943 (GRCm39)	missense	probably benign	0.05
IGL00425:Gbp9	APN	5	105,253,620 (GRCm39)	missense	possibly damaging	0.82
IGL00597:Gbp9	APN	5	105,242,364 (GRCm39)	missense	probably damaging	1.00
IGL01362:Gbp9	APN	5	105,228,072 (GRCm39)	missense	probably damaging	1.00
IGL01679:Gbp9	APN	5	105,233,038 (GRCm39)	splice site	probably null
IGL01803:Gbp9	APN	5	105,232,884 (GRCm39)	missense	probably damaging	0.99
IGL01803:Gbp9	APN	5	105,242,039 (GRCm39)	missense	probably damaging	1.00
IGL02054:Gbp9	APN	5	105,230,673 (GRCm39)	missense	probably benign	0.12
IGL02474:Gbp9	APN	5	105,242,433 (GRCm39)	splice site	probably benign
IGL02633:Gbp9	APN	5	105,231,431 (GRCm39)	splice site	probably benign
IGL02666:Gbp9	APN	5	105,242,141 (GRCm39)	splice site	probably null
IGL02689:Gbp9	APN	5	105,253,662 (GRCm39)	missense	probably benign	0.11
IGL02812:Gbp9	APN	5	105,231,624 (GRCm39)	missense	probably damaging	1.00
IGL03274:Gbp9	APN	5	105,230,652 (GRCm39)	missense	possibly damaging	0.58
R0410:Gbp9	UTSW	5	105,232,939 (GRCm39)	missense	probably benign	0.17
R1018:Gbp9	UTSW	5	105,228,126 (GRCm39)	missense	probably benign	0.15
R1479:Gbp9	UTSW	5	105,241,930 (GRCm39)	splice site	probably benign
R1655:Gbp9	UTSW	5	105,229,558 (GRCm39)	missense	possibly damaging	0.76
R1658:Gbp9	UTSW	5	105,242,334 (GRCm39)	missense	probably damaging	0.98
R1757:Gbp9	UTSW	5	105,242,319 (GRCm39)	missense	probably damaging	1.00
R1950:Gbp9	UTSW	5	105,229,112 (GRCm39)	missense	probably benign	0.01
R1986:Gbp9	UTSW	5	105,253,652 (GRCm39)	missense	probably damaging	0.98
R1986:Gbp9	UTSW	5	105,253,590 (GRCm39)	missense	probably damaging	1.00
R2124:Gbp9	UTSW	5	105,242,409 (GRCm39)	missense	probably damaging	1.00
R2302:Gbp9	UTSW	5	105,241,958 (GRCm39)	missense	possibly damaging	0.47
R2378:Gbp9	UTSW	5	105,228,042 (GRCm39)	missense	probably benign	0.02
R2997:Gbp9	UTSW	5	105,230,635 (GRCm39)	missense	probably benign	0.00
R3745:Gbp9	UTSW	5	105,253,724 (GRCm39)	start gained	probably benign
R4182:Gbp9	UTSW	5	105,231,461 (GRCm39)	missense	probably benign	0.08
R4485:Gbp9	UTSW	5	105,231,674 (GRCm39)	missense	probably damaging	0.97
R4718:Gbp9	UTSW	5	105,231,624 (GRCm39)	missense	probably damaging	1.00
R5063:Gbp9	UTSW	5	105,233,028 (GRCm39)	missense	probably benign
R5099:Gbp9	UTSW	5	105,242,379 (GRCm39)	missense	probably damaging	1.00
R5104:Gbp9	UTSW	5	105,228,007 (GRCm39)	missense	probably benign	0.00
R5199:Gbp9	UTSW	5	105,231,678 (GRCm39)	missense	probably benign	0.04
R5712:Gbp9	UTSW	5	105,242,421 (GRCm39)	missense	possibly damaging	0.80
R5751:Gbp9	UTSW	5	105,229,124 (GRCm39)	missense	probably benign	0.06
R5895:Gbp9	UTSW	5	105,230,724 (GRCm39)	missense	probably damaging	1.00
R6360:Gbp9	UTSW	5	105,231,596 (GRCm39)	missense	probably benign	0.03
R6646:Gbp9	UTSW	5	105,230,769 (GRCm39)	missense	probably benign	0.13
R7559:Gbp9	UTSW	5	105,232,975 (GRCm39)	missense	probably damaging	1.00
R7819:Gbp9	UTSW	5	105,251,745 (GRCm39)	missense	possibly damaging	0.65
R8042:Gbp9	UTSW	5	105,242,108 (GRCm39)	missense	probably damaging	1.00
R8288:Gbp9	UTSW	5	105,253,599 (GRCm39)	missense	probably damaging	1.00
R8303:Gbp9	UTSW	5	105,229,171 (GRCm39)	missense	possibly damaging	0.94
R8354:Gbp9	UTSW	5	105,242,027 (GRCm39)	missense	probably damaging	0.97
R8395:Gbp9	UTSW	5	105,228,069 (GRCm39)	missense	probably damaging	1.00
R8397:Gbp9	UTSW	5	105,231,464 (GRCm39)	missense	possibly damaging	0.94
R8751:Gbp9	UTSW	5	105,229,117 (GRCm39)	missense	possibly damaging	0.49
R8808:Gbp9	UTSW	5	105,232,875 (GRCm39)	missense	probably damaging	1.00
R9105:Gbp9	UTSW	5	105,241,942 (GRCm39)	missense	probably benign	0.11
R9116:Gbp9	UTSW	5	105,231,695 (GRCm39)	missense
R9354:Gbp9	UTSW	5	105,232,825 (GRCm39)	missense	possibly damaging	0.79
R9513:Gbp9	UTSW	5	105,229,091 (GRCm39)	missense	probably benign	0.06
R9709:Gbp9	UTSW	5	105,231,542 (GRCm39)	missense	probably damaging	0.99
R9717:Gbp9	UTSW	5	105,253,587 (GRCm39)	nonsense	probably null
Z1088:Gbp9	UTSW	5	105,241,991 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02