Mutagenetix > Incidental Mutation

Incidental Mutation 'R2302:Gbp9'

244454

Institutional Source

Beutler Lab

Gene Symbol

Gbp9

Ensembl Gene

ENSMUSG00000029298

Gene Name

guanylate-binding protein 9

Synonyms

MMRRC Submission

040301-MU

Accession Numbers

Essential gene?

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

Stock #

R2302 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

105224332-105258255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105241958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 200 (N200D)

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: N200D

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: N200D

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: N200D

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: N200D

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

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agpat2	A	T	2: 26,494,207 (GRCm39)	W6R	possibly damaging	Het
Ahrr	C	A	13: 74,425,780 (GRCm39)	V72F	probably damaging	Het
Ank1	G	A	8: 23,609,415 (GRCm39)	C1369Y	probably damaging	Het
Cdh3	C	A	8: 107,271,701 (GRCm39)	P538Q	probably damaging	Het
Cnn2	C	G	10: 79,827,233 (GRCm39)	R35G	possibly damaging	Het
Csmd3	C	A	15: 48,177,447 (GRCm39)	A364S	probably benign	Het
Dhcr7	A	G	7: 143,391,629 (GRCm39)	T73A	probably benign	Het
Hyls1	T	C	9: 35,475,365 (GRCm39)	E3G	possibly damaging	Het
Ifngr1	T	C	10: 19,485,393 (GRCm39)	L464P	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lhfpl2	T	C	13: 94,311,054 (GRCm39)	V108A	probably benign	Het
Lrrc7	C	G	3: 157,840,881 (GRCm39)	G1386R	probably damaging	Het
Mlc1	A	G	15: 88,849,640 (GRCm39)	V231A	possibly damaging	Het
Mup4	T	A	4: 59,960,702 (GRCm39)		probably null	Het
Myh8	A	T	11: 67,177,065 (GRCm39)	R406W	probably damaging	Het
Poldip3	T	C	15: 83,013,469 (GRCm39)		probably benign	Het
Pomt1	G	A	2: 32,133,671 (GRCm39)	G216S	probably benign	Het
Ppil6	T	A	10: 41,377,795 (GRCm39)	C169S	probably damaging	Het
Prokr2	A	G	2: 132,223,104 (GRCm39)	I146T	probably damaging	Het
Rab3b	T	C	4: 108,786,640 (GRCm39)	V130A	probably damaging	Het
Reck	T	A	4: 43,931,015 (GRCm39)	I672N	probably benign	Het
Scn1a	T	C	2: 66,108,089 (GRCm39)	T1546A	probably damaging	Het
Sftpd	T	A	14: 40,894,399 (GRCm39)	E340V	probably damaging	Het
Slco5a1	C	T	1: 12,949,486 (GRCm39)	G635S	probably damaging	Het
Slfn10-ps	A	T	11: 82,919,756 (GRCm39)		noncoding transcript	Het
Svopl	A	T	6: 38,018,101 (GRCm39)		probably benign	Het
Tbx5	A	G	5: 119,979,924 (GRCm39)	K157E	probably damaging	Het
Ttn	A	T	2: 76,724,696 (GRCm39)	C6333S	probably benign	Het
Zfp609	T	C	9: 65,702,179 (GRCm39)	K158E	possibly damaging	Het
Zscan20	T	C	4: 128,482,057 (GRCm39)	N535S	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCAGGACTTCTGCAGACCTCC -3'
(R):5'- ACCATGAGAGCGTGTGCATG -3'

Sequencing Primer
(F):5'- AGACCTCCATCCCATTGGG -3'
(R):5'- AGCCAAGTGCCAGTTATGTC -3'

Posted On

2014-10-30