Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Gbp9'

513058

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 #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105077630-105139539 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105083730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 330 (D330G)

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: D330G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: D330G

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: D330G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: D330G

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

0.4393

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,259,202	Q657*	probably null	Het
Car15	T	C	16: 17,838,066	T560A	probably benign	Het
Cass4	C	T	2: 172,432,611	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,460	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,438,429	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,431,736	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455		probably null	Het
Dab2ip	A	G	2: 35,710,266	H355R	probably benign	Het
Dennd2a	C	T	6: 39,493,142	A539T	probably benign	Het
Dnajc18	T	C	18: 35,686,709	E173G	probably damaging	Het
Dock7	T	C	4: 98,969,662	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619	H73P	probably damaging	Het
Fam46b	T	C	4: 133,486,756	F313L	probably damaging	Het
Flg	A	G	3: 93,290,601		probably benign	Het
Fyn	C	A	10: 39,526,883	T217K	possibly damaging	Het
Gin1	T	C	1: 97,792,539	S509P	possibly damaging	Het
Gm15922	A	T	7: 3,736,504	L455Q	probably damaging	Het
Gm17067	A	C	7: 42,708,482	S199A	probably benign	Het
Grk4	A	T	5: 34,674,537	K50M	probably damaging	Het
Inpp4b	A	G	8: 81,902,852	H272R	probably benign	Het
Ipo7	T	A	7: 110,027,129	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,779,206	I515T	probably damaging	Het
Kcnu1	T	A	8: 25,861,180	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,173,270	N336S	probably benign	Het
Lbr	G	T	1: 181,832,155	D158E	probably benign	Het
Mphosph10	T	C	7: 64,389,955	Q89R	probably benign	Het
Nectin3	T	A	16: 46,411,109	T21S	probably benign	Het
Numb	C	A	12: 83,797,262	R383L	probably damaging	Het
Olfr1370	A	T	13: 21,072,583	N239K	probably damaging	Het
Olfr461	G	T	6: 40,544,713	Q89K	possibly damaging	Het
Park2	T	C	17: 12,004,052	F363S	probably damaging	Het
Pcdhb11	A	T	18: 37,422,159	I181F	probably benign	Het
Pcgf2	T	A	11: 97,692,409		probably null	Het
Pdzd8	T	C	19: 59,300,983	T662A	probably benign	Het
Pex13	A	C	11: 23,655,690	V180G	probably benign	Het
Pkp4	T	A	2: 59,214,747	V22D	probably benign	Het
Ppp1r32	T	C	19: 10,479,481	N167D	probably damaging	Het
Prpf4b	A	C	13: 34,901,433	D954A	probably damaging	Het
Rfx8	T	C	1: 39,680,965	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,361,419	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778	C453S	possibly damaging	Het
Scarf1	G	T	11: 75,515,669	G260W	probably damaging	Het
Scyl1	T	C	19: 5,760,571	E538G	probably damaging	Het
Sec14l5	A	T	16: 5,172,995	I267F	probably damaging	Het
Senp6	T	A	9: 80,113,806	V256D	probably benign	Het
Sf3b4	G	A	3: 96,176,728		probably benign	Het
Ssh1	T	C	5: 113,961,347		probably null	Het
Tas2r143	A	C	6: 42,400,835	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,214,629	P19S	probably damaging	Het
Tmc5	T	A	7: 118,633,966	M1K	probably null	Het
Tnc	T	C	4: 64,000,733	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,769,441	E285G	probably damaging	Het
Txndc11	C	T	16: 11,084,792	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,663,082	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476	I369L	probably benign	Het
Vwf	A	T	6: 125,683,526	T2666S	probably benign	Het
Yif1a	A	G	19: 5,092,341	M259V	probably benign	Het
Zbtb46	T	C	2: 181,391,455	D471G	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
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
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'- AGCGCCATGACAGTTAATGC -3'
(R):5'- ACTTGCTGAAGAAGATTGTTGG -3'

Sequencing Primer
(F):5'- ATGACAGTTAATGCCATCAACAG -3'
(R):5'- GTTGTGTGGTTCCCATTCATTATAAC -3'

Posted On

2018-04-27