Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00597:Gbp9'

5573

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 #

IGL00597

Quality Score

Status

Chromosome

Chromosomal Location

105224332-105258255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105242364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 125 (V125A)

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

probably damaging
Transcript: ENSMUST00000031238
AA Change: V125A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: V125A

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

probably damaging
Transcript: ENSMUST00000100961
AA Change: V125A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: V125A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bdkrb1	A	T	12: 105,571,210 (GRCm39)	I259F	probably damaging	Het
Chac1	A	G	2: 119,184,040 (GRCm39)	Y214C	probably benign	Het
Ctnnd2	A	C	15: 30,647,287 (GRCm39)	T328P	possibly damaging	Het
Gart	A	G	16: 91,435,677 (GRCm39)	S179P	possibly damaging	Het
Gpc6	T	A	14: 118,188,646 (GRCm39)	S427T	probably benign	Het
Ifna7	A	T	4: 88,734,675 (GRCm39)	I71F	probably benign	Het
Kcnip1	A	T	11: 33,593,289 (GRCm39)		probably benign	Het
Kcnip1	A	T	11: 33,593,294 (GRCm39)		probably null	Het
Krt86	A	G	15: 101,374,107 (GRCm39)	K222R	probably benign	Het
Nacad	G	A	11: 6,550,921 (GRCm39)	P757S	probably benign	Het
Obox7	C	A	7: 14,397,957 (GRCm39)		probably benign	Het
Pam	T	A	1: 97,762,169 (GRCm39)	T805S	probably benign	Het
Pgam2	G	A	11: 5,753,442 (GRCm39)	R83C	probably damaging	Het
Prtg	T	A	9: 72,716,926 (GRCm39)	I89N	probably damaging	Het
Rpusd4	T	A	9: 35,179,738 (GRCm39)	V77E	probably benign	Het
Sirpb1a	T	C	3: 15,481,977 (GRCm39)	Y50C	probably damaging	Het
Whamm	T	C	7: 81,228,014 (GRCm39)	V87A	probably damaging	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
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
IGL03132:Gbp9	APN	5	105,232,819 (GRCm39)	missense	possibly damaging	0.83
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

2012-04-20