Mutagenetix > Incidental Mutation

Incidental Mutation 'R5099:Gbp9'

388171

Institutional Source

Beutler Lab

Gene Symbol

Gbp9

Ensembl Gene

ENSMUSG00000029298

Gene Name

guanylate-binding protein 9

Synonyms

MMRRC Submission

042688-MU

Accession Numbers

Essential gene?

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

Stock #

R5099 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105077630-105139539 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105094513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 120 (L120Q)

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: L120Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: L120Q

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: L120Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: L120Q

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

Meta Mutation Damage Score

0.8347

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	C	19: 11,112,461		probably null	Het
Arsa	A	G	15: 89,475,339	L80P	probably damaging	Het
Bdkrb1	A	G	12: 105,604,274	D33G	probably benign	Het
Ccdc178	A	T	18: 22,105,591	V323E	probably benign	Het
Ceacam5	T	C	7: 17,745,588	V210A	probably damaging	Het
Dcdc2a	A	G	13: 25,107,698	E222G	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gsr	T	A	8: 33,671,528	I121N	probably damaging	Het
Ift140	T	A	17: 25,090,700	M1068K	probably damaging	Het
Jakmip2	A	G	18: 43,568,108	I414T	probably benign	Het
Lpin2	G	A	17: 71,243,970	W708*	probably null	Het
Mecom	A	G	3: 29,985,316		probably benign	Het
Mff	C	T	1: 82,750,471		probably benign	Het
Neb	C	T	2: 52,195,448	C1545Y	probably damaging	Het
Olfr1083-ps	A	T	2: 86,607,216	N118K	unknown	Het
Olfr206	C	T	16: 59,344,903	G266D	probably benign	Het
Olfr467	A	G	7: 107,814,602	H6R	probably benign	Het
Ppm1n	A	T	7: 19,277,978	L392Q	possibly damaging	Het
Prr22	T	C	17: 56,771,467	F207L	probably benign	Het
Ptprv	T	C	1: 135,118,854		noncoding transcript	Het
Rin2	G	A	2: 145,878,901	C718Y	probably damaging	Het
Rpgrip1l	G	A	8: 91,248,722	T1089I	probably benign	Het
Scn1a	A	G	2: 66,277,801	V1510A	probably damaging	Het
Slfn3	A	T	11: 83,214,938	Y587F	probably damaging	Het
Sp2	T	C	11: 96,961,349	K250E	probably damaging	Het
Ssu2	A	G	6: 112,359,624	S333P	probably benign	Het
Strbp	T	C	2: 37,603,018	T419A	probably damaging	Het
Tada2b	A	T	5: 36,476,400	M203K	probably benign	Het
Tcrg-V5	G	T	13: 19,192,716	C111F	probably damaging	Het
Tmem176b	T	C	6: 48,834,529	Y62C	probably benign	Het
Tox	G	T	4: 6,688,958	Q469K	probably benign	Het
Tyw5	T	C	1: 57,388,705	N243D	probably damaging	Het
Ube2q2	T	A	9: 55,206,023		probably benign	Het
Ufl1	C	T	4: 25,275,914	R83Q	probably damaging	Het
Unk	A	G	11: 116,059,110	Q701R	probably benign	Het
Vmn1r60	A	T	7: 5,544,817	C95S	probably damaging	Het
Vmn1r81	A	G	7: 12,260,321	I120T	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
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
R9717:Gbp9	UTSW	5	105105721	nonsense	probably null
Z1088:Gbp9	UTSW	5	105094125	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATGCACACGCTCTCATG -3'
(R):5'- TCCTTTAACCAGGAGGAGGG -3'

Sequencing Primer
(F):5'- TAAATCATCCTAAACACTCTGCTCTG -3'
(R):5'- CCTTTAACCAGGAGGAGGGTTTTTG -3'

Posted On

2016-06-06