Mutagenetix > Incidental Mutations

Incidental Mutation 'R3738:Gbp10'

270229

Institutional Source

Beutler Lab

Gene Symbol

Gbp10

Ensembl Gene

ENSMUSG00000105096

Gene Name

guanylate-binding protein 10

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R3738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105215699-105239533 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105224458 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 145 (E145D)

Ref Sequence

ENSEMBL: ENSMUSP00000069042 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000065588
AA Change: E145D

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069042
Gene: ENSMUSG00000105096
AA Change: E145D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196634

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 49,019,281	L775*	probably null	Het
Abcb8	A	G	5: 24,400,621	S168G	probably benign	Het
Ankrd11	A	G	8: 122,896,715		probably benign	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Atp8b1	A	G	18: 64,533,729		probably benign	Het
Camk2d	A	G	3: 126,771,839	D136G	probably damaging	Het
Capn3	G	A	2: 120,485,287	D227N	possibly damaging	Het
Cwf19l2	A	T	9: 3,456,803	H712L	probably benign	Het
Dlgap3	A	G	4: 127,195,606	T332A	probably damaging	Het
Eml6	C	A	11: 29,803,137	V925L	probably benign	Het
Fbll1	G	A	11: 35,797,678	H253Y	possibly damaging	Het
Fbxw18	T	A	9: 109,688,913	Y335F	possibly damaging	Het
Gm8251	A	G	1: 44,058,866	V1024A	probably benign	Het
Ifi203	T	A	1: 173,929,474		probably benign	Het
Insig1	T	A	5: 28,071,703	I89N	probably damaging	Het
Itpkc	T	A	7: 27,227,604	D295V	possibly damaging	Het
Jak1	T	C	4: 101,191,468		probably benign	Het
Kctd9	G	A	14: 67,734,288	D157N	possibly damaging	Het
Kmt2c	A	C	5: 25,405,383	F242V	probably benign	Het
Lcorl	A	T	5: 45,734,041	N323K	possibly damaging	Het
Lin54	T	C	5: 100,459,806		probably benign	Het
Ltbp2	A	T	12: 84,804,474	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,870,578	S80P	probably damaging	Het
Myh9	G	A	15: 77,766,812	R1612C	probably damaging	Het
Nr1d2	T	A	14: 18,211,804	N433I	possibly damaging	Het
Olfr1217	T	C	2: 89,023,610	Y131C	probably damaging	Het
Olfr1385	A	G	11: 49,495,460	D309G	possibly damaging	Het
Olfr724	T	C	14: 49,960,556	N172S	possibly damaging	Het
Pld4	T	C	12: 112,768,035	I410T	probably benign	Het
Pnmal2	C	T	7: 16,946,596	H502Y	probably benign	Het
Pramef8	T	C	4: 143,416,642		probably benign	Het
Rbbp8nl	G	T	2: 180,281,248	T184K	probably benign	Het
Saa4	T	A	7: 46,729,629	N96Y	possibly damaging	Het
Serpinb6d	T	A	13: 33,667,680	V140E	probably damaging	Het
Ska3	A	T	14: 57,811,596	M306K	probably benign	Het
Slfn4	T	C	11: 83,185,311	M1T	probably null	Het
Sorcs1	T	C	19: 50,151,221	I1168V	probably benign	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
St18	G	A	1: 6,855,473		probably null	Het
Trim9	T	C	12: 70,251,195	T579A	probably damaging	Het
Trpc2	G	A	7: 102,084,504	S220N	probably damaging	Het
Ube2j1	A	T	4: 33,036,723	M16L	probably benign	Het
Usp42	C	T	5: 143,715,439	S943N	probably benign	Het
Utp20	C	T	10: 88,762,806	V103I	probably benign	Het
Vmn2r62	G	A	7: 42,787,887	P391L	probably benign	Het
Zfa-ps	T	A	10: 52,544,540		noncoding transcript	Het
Zfp423	A	G	8: 87,781,344	C666R	probably 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
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
R6908:Gbp10	UTSW	5	105221032	missense	probably damaging	0.97
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

Predicted Primers

PCR Primer
(F):5'- GCTTCAAGGCATTCTCCAGG -3'
(R):5'- TGAGCAGCACCTTCATCTAC -3'

Sequencing Primer
(F):5'- AAGGCATTCTCCAGGTAGTCATC -3'
(R):5'- GAGCAGCTGCAGTATCCTTCTG -3'

Posted On

2015-03-18