Mutagenetix > Incidental Mutation

Incidental Mutation 'R1018:Gbp9'

96569

Institutional Source

Beutler Lab

Gene Symbol

Gbp9

Ensembl Gene

ENSMUSG00000029298

Gene Name

guanylate-binding protein 9

Synonyms

MMRRC Submission

039122-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105077630-105139539 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105080260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 552 (Q552L)

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 benign
Transcript: ENSMUST00000031238
AA Change: Q552L

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: Q552L

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 benign
Transcript: ENSMUST00000100961
AA Change: Q552L

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: Q552L

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

Meta Mutation Damage Score

0.3796

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 80,001,491	C403F	probably damaging	Het
Adam20	C	T	8: 40,796,109	Q419*	probably null	Het
Ankrd36	C	T	11: 5,646,876		probably benign	Het
Arl8b	T	A	6: 108,818,611	I170K	probably damaging	Het
Atp5f1	A	T	3: 105,954,172	V78E	possibly damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Cgnl1	A	G	9: 71,726,058	Y4H	probably damaging	Het
Cnn2	T	C	10: 79,993,563	C176R	probably damaging	Het
Dst	A	G	1: 34,194,093	D3392G	probably damaging	Het
Eed	T	C	7: 89,967,811		probably benign	Het
Efl1	T	A	7: 82,763,013	V870E	possibly damaging	Het
Epx	T	C	11: 87,869,303	N495S	probably benign	Het
Fbxw20	T	A	9: 109,221,336	Y407F	probably benign	Het
Hspa13	C	A	16: 75,761,276	V134L	possibly damaging	Het
Il16	T	C	7: 83,674,538	N268S	probably damaging	Het
Kif14	G	A	1: 136,495,841		probably benign	Het
Lrig1	G	A	6: 94,622,602		probably benign	Het
Myo7a	T	A	7: 98,107,005	D29V	probably damaging	Het
Nsd2	A	G	5: 33,843,241	K34R	probably damaging	Het
Olfr1234	C	A	2: 89,363,179	L83F	possibly damaging	Het
P3h1	C	A	4: 119,237,907	T287K	probably damaging	Het
Pkhd1	A	T	1: 20,201,259	H3023Q	possibly damaging	Het
Plxna1	A	G	6: 89,342,960	L535P	probably damaging	Het
Ppp1r32	A	T	19: 10,479,460		probably benign	Het
Prom1	A	T	5: 44,029,714	S400R	probably benign	Het
Psap	T	G	10: 60,300,811	L523R	probably damaging	Het
Psme4	C	T	11: 30,804,310	T189I	probably damaging	Het
Ptpn12	A	T	5: 21,029,869	S39T	possibly damaging	Het
Qtrt2	T	A	16: 43,878,000	H98L	possibly damaging	Het
Rad54l2	C	A	9: 106,712,390	C601F	probably benign	Het
Sfswap	A	G	5: 129,554,576	K756R	possibly damaging	Het
Slc24a5	T	C	2: 125,068,907	V86A	probably damaging	Het
Srrm2	T	C	17: 23,822,540	S2575P	probably damaging	Het
Stam	T	C	2: 14,117,374		probably benign	Het
Tbx6	T	A	7: 126,783,192		probably benign	Het
Tmem131	A	C	1: 36,794,819	F1727V	probably damaging	Het
Tpr	T	A	1: 150,442,183	H2147Q	possibly damaging	Het
Trio	T	A	15: 27,871,171	H620L	probably damaging	Het
Uba5	T	C	9: 104,049,903	T292A	probably benign	Het
Unc5a	T	A	13: 54,990,952	V48E	possibly damaging	Het
Upf1	G	T	8: 70,338,906	H514Q	possibly damaging	Het
Usp9y	A	G	Y: 1,341,414		probably benign	Het
Vmn2r6	T	A	3: 64,556,840	D191V	probably benign	Het
Wapl	T	C	14: 34,691,906	Y242H	possibly damaging	Het
Zfp341	A	T	2: 154,646,052	N812Y	probably damaging	Het
Zfp358	C	A	8: 3,496,843	S475*	probably null	Het
Zfp957	C	A	14: 79,212,742	C539F	probably 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
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
R9717:Gbp9	UTSW	5	105105721	nonsense	probably null
Z1088:Gbp9	UTSW	5	105094125	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCATGTGTGCAGGACACAGCC -3'
(R):5'- GCTCTGCTAGTGTCGCAACTGAAAC -3'

Sequencing Primer
(F):5'- CCTTCGCTGAGTGAAAATAGAAAAC -3'
(R):5'- GACTAGTAAAGTTTCAACCCTGC -3'

Posted On

2014-01-05