Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Gbp9'

189014

Institutional Source

Beutler Lab

Gene Symbol

Gbp9

Ensembl Gene

ENSMUSG00000029298

Gene Name

guanylate-binding protein 9

Synonyms

MMRRC Submission

039691-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105077630-105139539 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105081692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 472 (Q472L)

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: Q472L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: Q472L

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: Q472L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: Q472L

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

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	A	T	9: 51,083,621	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333		probably benign	Het
Abca1	C	T	4: 53,050,964	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340	T19K	unknown	Het
Disp1	A	T	1: 183,087,004	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866		probably null	Het
Ermn	C	T	2: 58,052,584	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851	I934T	probably damaging	Het
Gimap5	G	T	6: 48,753,176	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245		probably null	Het
Nlrp4a	A	T	7: 26,449,651	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782	D427G	probably benign	Het
Scai	A	T	2: 39,080,117	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Supt5	T	C	7: 28,330,024	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216	Y346*	probably null	Het
Tg	T	G	15: 66,828,568		probably null	Het
Top1	T	A	2: 160,703,696		probably null	Het
Trmt12	T	C	15: 58,873,227	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051	V999E	probably benign	Het
Virma	T	C	4: 11,494,786	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554	V709A	possibly damaging	Het

Other mutations in Gbp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Gbp9	APN	5	105081264	missense	probably benign	0.01
IGL00419:Gbp9	APN	5	105094077	missense	probably benign	0.05
IGL00425:Gbp9	APN	5	105105754	missense	possibly damaging	0.82
IGL00597:Gbp9	APN	5	105094498	missense	probably damaging	1.00
IGL01362:Gbp9	APN	5	105080206	missense	probably damaging	1.00
IGL01679:Gbp9	APN	5	105085172	splice site	probably null
IGL01803:Gbp9	APN	5	105094173	missense	probably damaging	1.00
IGL01803:Gbp9	APN	5	105085018	missense	probably damaging	0.99
IGL02054:Gbp9	APN	5	105082807	missense	probably benign	0.12
IGL02474:Gbp9	APN	5	105094567	splice site	probably benign
IGL02633:Gbp9	APN	5	105083565	splice site	probably benign
IGL02666:Gbp9	APN	5	105094275	splice site	probably null
IGL02689:Gbp9	APN	5	105105796	missense	probably benign	0.11
IGL02812:Gbp9	APN	5	105083758	missense	probably damaging	1.00
IGL03132:Gbp9	APN	5	105084953	missense	possibly damaging	0.83
IGL03274:Gbp9	APN	5	105082786	missense	possibly damaging	0.58
R0410:Gbp9	UTSW	5	105085073	missense	probably benign	0.17
R1018:Gbp9	UTSW	5	105080260	missense	probably benign	0.15
R1479:Gbp9	UTSW	5	105094064	splice site	probably benign
R1658:Gbp9	UTSW	5	105094468	missense	probably damaging	0.98
R1757:Gbp9	UTSW	5	105094453	missense	probably damaging	1.00
R1950:Gbp9	UTSW	5	105081246	missense	probably benign	0.01
R1986:Gbp9	UTSW	5	105105724	missense	probably damaging	1.00
R1986:Gbp9	UTSW	5	105105786	missense	probably damaging	0.98
R2124:Gbp9	UTSW	5	105094543	missense	probably damaging	1.00
R2302:Gbp9	UTSW	5	105094092	missense	possibly damaging	0.47
R2378:Gbp9	UTSW	5	105080176	missense	probably benign	0.02
R2997:Gbp9	UTSW	5	105082769	missense	probably benign	0.00
R3745:Gbp9	UTSW	5	105105858	start gained	probably benign
R4182:Gbp9	UTSW	5	105083595	missense	probably benign	0.08
R4485:Gbp9	UTSW	5	105083808	missense	probably damaging	0.97
R4718:Gbp9	UTSW	5	105083758	missense	probably damaging	1.00
R5063:Gbp9	UTSW	5	105085162	missense	probably benign
R5099:Gbp9	UTSW	5	105094513	missense	probably damaging	1.00
R5104:Gbp9	UTSW	5	105080141	missense	probably benign	0.00
R5199:Gbp9	UTSW	5	105083812	missense	probably benign	0.04
R5712:Gbp9	UTSW	5	105094555	missense	possibly damaging	0.80
R5751:Gbp9	UTSW	5	105081258	missense	probably benign	0.06
R5895:Gbp9	UTSW	5	105082858	missense	probably damaging	1.00
R6360:Gbp9	UTSW	5	105083730	missense	probably benign	0.03
R6646:Gbp9	UTSW	5	105082903	missense	probably benign	0.13
R7559:Gbp9	UTSW	5	105085109	missense	probably damaging	1.00
R7819:Gbp9	UTSW	5	105103879	missense	possibly damaging	0.65
R8042:Gbp9	UTSW	5	105094242	missense	probably damaging	1.00
R8288:Gbp9	UTSW	5	105105733	missense	probably damaging	1.00
R8303:Gbp9	UTSW	5	105081305	missense	possibly damaging	0.94
R8354:Gbp9	UTSW	5	105094161	missense	probably damaging	0.97
R8395:Gbp9	UTSW	5	105080203	missense	probably damaging	1.00
R8397:Gbp9	UTSW	5	105083598	missense	possibly damaging	0.94
R8751:Gbp9	UTSW	5	105081251	missense	possibly damaging	0.49
R8808:Gbp9	UTSW	5	105085009	missense	probably damaging	1.00
R9105:Gbp9	UTSW	5	105094076	missense	probably benign	0.11
R9116:Gbp9	UTSW	5	105083829	missense
R9354:Gbp9	UTSW	5	105084959	missense	possibly damaging	0.79
R9513:Gbp9	UTSW	5	105081225	missense	probably benign	0.06
Z1088:Gbp9	UTSW	5	105094125	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACACCGAGAACTGCCTGTTG -3'
(R):5'- GAAGTATCCACTGCCACTGAAGAGC -3'

Sequencing Primer
(F):5'- GAACTGCCTGTTGCTTCCAAG -3'
(R):5'- TGAGCCATGTGCAGGCTTC -3'

Posted On

2014-05-09