Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Gbp9'

730523

Institutional Source

Beutler Lab

Gene Symbol

Gbp9

Ensembl Gene

ENSMUSG00000029298

Gene Name

guanylate-binding protein 9

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105077630-105139539 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 105105721 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 43 (G43*)

Ref Sequence

ENSEMBL: ENSMUSP00000031238 (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 null
Transcript: ENSMUST00000031238
AA Change: G43*

SMART Domains

Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: G43*

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 null
Transcript: ENSMUST00000100961
AA Change: G43*

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: G43*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	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
R1655:Gbp9	UTSW	5	105081692	missense	possibly damaging	0.76
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
R9709:Gbp9	UTSW	5	105083676	missense	probably damaging	0.99
Z1088:Gbp9	UTSW	5	105094125	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTAGCATGAGAGGGTGGC -3'
(R):5'- ACTGGTCTTAGCTGCTGAGC -3'

Sequencing Primer
(F):5'- GCTTTGCTAAAAAGGAGTTCTGC -3'
(R):5'- GGCAGAGAATGACTTTAGACTCTTTC -3'

Posted On

2022-10-06