Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:Gbp10'

538857

Institutional Source

Beutler Lab

Gene Symbol

Gbp10

Ensembl Gene

ENSMUSG00000105096

Gene Name

guanylate-binding protein 10

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R6908 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105215699-105239533 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 105221032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 314 (T314P)

Ref Sequence

ENSEMBL: ENSMUSP00000069042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050011] [ENSMUST00000065588]

AlphaFold

Q000W5

Predicted Effect

probably benign
Transcript: ENSMUST00000050011

SMART Domains

Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	7.6e-118	PFAM
Pfam:GBP_C	281	575	2.1e-117	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000065588
AA Change: T314P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069042
Gene: ENSMUSG00000105096
AA Change: T314P

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	5e-115	PFAM
Pfam:GBP_C	281	575	3.6e-117	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,657,305	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,448,535		probably null	Het
B3glct	T	C	5: 149,696,476		probably null	Het
Bbs9	T	G	9: 22,567,723	I154S	probably damaging	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,791,939		probably null	Het
Celf6	T	C	9: 59,603,823	V349A	probably benign	Het
Chd9	A	G	8: 90,956,416	T495A	probably benign	Het
Cxxc1	G	A	18: 74,220,559	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,859,215	V223A	probably damaging	Het
Dlc1	A	G	8: 36,937,687	F316S	probably benign	Het
Dnajc12	C	A	10: 63,397,325	Q82K	probably benign	Het
Dock8	G	A	19: 25,188,382	E1877K	probably damaging	Het
Epha3	T	G	16: 63,598,249	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,182,439	C220F	probably damaging	Het
Fryl	A	G	5: 73,022,211	L2951P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,534	N77D	probably benign	Het
Ints13	A	T	6: 146,555,033	D438E	probably damaging	Het
Itgb6	C	T	2: 60,650,021	V324M	probably benign	Het
Kdm7a	G	T	6: 39,144,439	L861M	possibly damaging	Het
Kirrel3	A	G	9: 35,013,401	T302A	possibly damaging	Het
Lama2	A	T	10: 27,031,196		probably null	Het
Lrp2	A	T	2: 69,472,365	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Mastl	T	C	2: 23,155,976		probably benign	Het
Mcf2l	T	C	8: 13,018,919	V1087A	probably benign	Het
Mcmdc2	C	A	1: 9,930,778		probably null	Het
Ms4a3	A	G	19: 11,638,295	I39T	probably damaging	Het
Mylk	T	G	16: 34,880,273	C495G	probably benign	Het
Myo10	A	G	15: 25,804,383	D1588G	probably damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,217,296	I460V	probably benign	Het
Nmt1	T	G	11: 103,058,254	S312A	possibly damaging	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr710	T	C	7: 106,944,632	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,791,224	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,296,524	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,152,446	I559T	probably damaging	Het
Plec	G	A	15: 76,185,881	Q806*	probably null	Het
Prss51	C	T	14: 64,096,152	A70V	probably benign	Het
Psd3	A	T	8: 67,964,177	I356K	probably benign	Het
Ptprn2	A	T	12: 116,888,888	I522F	probably benign	Het
Rab39	T	C	9: 53,706,069	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,143,100	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,104,063	D238E	probably benign	Het
Ripor2	G	A	13: 24,706,232	G697S	probably damaging	Het
Scn11a	A	T	9: 119,792,426	F642I	probably damaging	Het
Serinc4	G	A	2: 121,453,605	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 127,021,626		probably benign	Het
Slc36a3	T	C	11: 55,149,886		probably benign	Het
Smc1b	A	G	15: 85,107,010	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,352,332	S455P	probably damaging	Het
Ttn	C	A	2: 76,889,858		probably benign	Het
Tyw5	T	C	1: 57,401,523	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,806,230	T97A	possibly damaging	Het

Other mutations in Gbp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01470:Gbp10	APN	5	105221114	splice site	probably benign
IGL01680:Gbp10	APN	5	105224271	splice site	probably null
IGL01809:Gbp10	APN	5	105217359	missense	probably benign
IGL01845:Gbp10	APN	5	105219949	splice site	probably null
IGL02011:Gbp10	APN	5	105221101	missense	probably damaging	1.00
IGL02063:Gbp10	APN	5	105236040	missense	possibly damaging	0.95
IGL02533:Gbp10	APN	5	105220035	missense	probably damaging	1.00
IGL02612:Gbp10	APN	5	105218502	missense	possibly damaging	0.88
R0349:Gbp10	UTSW	5	105221076	missense	possibly damaging	0.60
R0462:Gbp10	UTSW	5	105218524	missense	possibly damaging	0.67
R0535:Gbp10	UTSW	5	105221011	missense	possibly damaging	0.95
R1223:Gbp10	UTSW	5	105219001	missense	probably damaging	1.00
R1704:Gbp10	UTSW	5	105224351	missense	probably damaging	1.00
R1792:Gbp10	UTSW	5	105224300	missense	probably damaging	1.00
R3738:Gbp10	UTSW	5	105224458	missense	possibly damaging	0.84
R3739:Gbp10	UTSW	5	105224458	missense	possibly damaging	0.84
R4035:Gbp10	UTSW	5	105224458	missense	possibly damaging	0.84
R4421:Gbp10	UTSW	5	105224651	splice site	probably null
R5207:Gbp10	UTSW	5	105224709	missense	probably benign	0.05
R5338:Gbp10	UTSW	5	105224300	missense	probably damaging	1.00
R6010:Gbp10	UTSW	5	105224339	missense	probably damaging	1.00
R6045:Gbp10	UTSW	5	105218403	missense	probably damaging	0.98
R6156:Gbp10	UTSW	5	105236149	start gained	probably benign
R6285:Gbp10	UTSW	5	105218460	missense	probably damaging	1.00
R6525:Gbp10	UTSW	5	105236084	missense	probably benign	0.01
R7339:Gbp10	UTSW	5	105220098	missense	possibly damaging	0.77
R7396:Gbp10	UTSW	5	105236149	start gained	probably benign
R7397:Gbp10	UTSW	5	105236149	start gained	probably benign
R7399:Gbp10	UTSW	5	105236149	start gained	probably benign
R7554:Gbp10	UTSW	5	105236149	start gained	probably benign
R7555:Gbp10	UTSW	5	105236149	start gained	probably benign
R7574:Gbp10	UTSW	5	105236149	start gained	probably benign
R7575:Gbp10	UTSW	5	105236149	start gained	probably benign
R7576:Gbp10	UTSW	5	105236149	start gained	probably benign
R7577:Gbp10	UTSW	5	105236149	start gained	probably benign
R7578:Gbp10	UTSW	5	105236149	start gained	probably benign
R7975:Gbp10	UTSW	5	105221101	missense	probably benign	0.20
R8293:Gbp10	UTSW	5	105224369	missense	probably damaging	1.00
R8708:Gbp10	UTSW	5	105220965	missense	probably damaging	1.00
R9002:Gbp10	UTSW	5	105221981	missense	probably benign	0.00
R9086:Gbp10	UTSW	5	105218503	missense	probably benign	0.00
R9149:Gbp10	UTSW	5	105218995	missense	probably damaging	0.98
R9402:Gbp10	UTSW	5	105233997	missense	possibly damaging	0.82
R9582:Gbp10	UTSW	5	105224390	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGAATGCTCCATGAAGACAGC -3'
(R):5'- TGATAGCTTGCTGAAGGAGG -3'

Sequencing Primer
(F):5'- AGACAGCCATGGCTTCCTTC -3'
(R):5'- ATAGCTTGCTGAAGGAGGTTTTG -3'

Posted On

2018-11-06