Mutagenetix > Incidental Mutation

Incidental Mutation 'R2124:Gbp9'

229649

Institutional Source

Beutler Lab

Gene Symbol

Gbp9

Ensembl Gene

ENSMUSG00000029298

Gene Name

guanylate-binding protein 9

Synonyms

MMRRC Submission

040127-MU

Accession Numbers

Essential gene?

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

Stock #

R2124 (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 105094543 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 110 (D110V)

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: D110V

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

SMART Domains

Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: D110V

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: D110V

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

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: D110V

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

0.8727

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,538,872	L143M	possibly damaging	Het
Abca13	T	C	11: 9,309,013		probably benign	Het
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Adgrg6	T	C	10: 14,467,186	D339G	probably damaging	Het
Ahctf1	C	A	1: 179,769,452	R43L	probably damaging	Het
Ambn	T	A	5: 88,460,758		probably benign	Het
Arap3	A	C	18: 37,973,350	L1480R	probably damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Aspg	G	A	12: 112,121,174	V8I	probably benign	Het
Aven	T	A	2: 112,625,196	W26R	probably damaging	Het
Car4	T	A	11: 84,964,085		probably benign	Het
Cd163	C	T	6: 124,318,856	R720C	probably damaging	Het
Cdh1	A	G	8: 106,664,210	I653V	probably benign	Het
Cdh3	A	T	8: 106,552,888	H712L	probably damaging	Het
Cdr2	T	C	7: 120,982,027	E9G	probably damaging	Het
Chrnb2	T	C	3: 89,769,341		probably benign	Het
Col4a2	C	A	8: 11,416,070	P443Q	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Ddias	T	C	7: 92,858,256	Q817R	probably benign	Het
Ddx6	C	T	9: 44,624,519	Q182*	probably null	Het
Dhrs7	A	G	12: 72,653,177	I227T	probably damaging	Het
Dhx8	A	T	11: 101,762,245	M970L	probably damaging	Het
Dnah7a	A	T	1: 53,496,942	D2647E	possibly damaging	Het
Dstyk	G	A	1: 132,453,119	G451R	possibly damaging	Het
Ednrb	T	A	14: 103,821,768	D274V	probably benign	Het
Efl1	C	T	7: 82,692,913	R510C	probably damaging	Het
Eif4g3	A	G	4: 138,184,742	E1409G	probably damaging	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fcgbp	T	C	7: 28,092,019	Y902H	probably benign	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Gm10477	A	G	X: 56,524,832	K31E	probably damaging	Het
Gm10542	T	A	18: 44,201,288	W9R	probably null	Het
Gm7173	T	C	X: 79,510,321	I267V	probably benign	Het
Gpaa1	A	G	15: 76,333,352	Y330C	probably damaging	Het
Hectd4	T	C	5: 121,318,639	L689P	probably damaging	Het
Hoxd3	C	A	2: 74,744,234	P75T	possibly damaging	Het
Ikbkb	A	G	8: 22,666,020	L570P	probably damaging	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Il1rap	A	T	16: 26,710,565	H379L	probably damaging	Het
Ints6l	T	A	X: 56,504,868	S718T	probably benign	Het
Jaml	T	A	9: 45,101,064	I283N	probably damaging	Het
Kidins220	G	A	12: 25,041,303		probably null	Het
Kif1b	T	C	4: 149,222,296	D869G	probably benign	Het
Loxl2	T	C	14: 69,692,410	Y746H	probably benign	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Mageb5	A	G	X: 91,780,095	I226T	probably damaging	Het
Msantd2	C	T	9: 37,522,931	R357W	probably damaging	Het
Neb	A	G	2: 52,264,064	F2345S	probably damaging	Het
Olfr866	T	G	9: 20,027,501	I146L	probably benign	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452		probably benign	Het
Prkdc	T	C	16: 15,719,433	V1716A	probably benign	Het
Prss37	G	A	6: 40,515,360	R186*	probably null	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Rims1	T	A	1: 22,404,508	R200*	probably null	Het
Rnf168	T	G	16: 32,278,218	L37R	probably damaging	Het
Sall3	C	T	18: 80,971,797	G972D	probably benign	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Scamp5	C	A	9: 57,447,225	V49F	possibly damaging	Het
Sdk1	C	A	5: 142,185,188	D1935E	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Syt16	T	A	12: 74,238,235	S401T	probably damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tbcd	A	G	11: 121,603,320	Y983C	probably damaging	Het
Tenm3	A	G	8: 48,417,006		probably null	Het
Tll1	T	C	8: 64,085,557	E351G	probably benign	Het
Tmem44	T	A	16: 30,547,444	K55*	probably null	Het
Top2a	T	C	11: 99,004,228	I849V	probably benign	Het
Ttn	A	G	2: 76,794,448	V13516A	probably damaging	Het
Uxs1	A	G	1: 43,774,846	L77P	probably damaging	Het
Vmn2r121	A	T	X: 124,133,742		probably null	Het
Vmn2r84	A	C	10: 130,391,231	M246R	probably damaging	Het
Vps13b	T	A	15: 35,646,080	N1443K	probably benign	Het
Wfdc6b	C	T	2: 164,617,443	R142C	probably benign	Het
Zfp616	A	G	11: 74,083,043		probably null	Het
Zmym1	T	C	4: 127,049,570	T244A	probably benign	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
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'- AATCATCCTAAACACTCTGCTCTG -3'
(R):5'- ATTCCACTAAGTTTCTCAGGCTG -3'

Sequencing Primer
(F):5'- TGCTCTGCCCCATCAAAG -3'
(R):5'- GGCTGACCTTACATTAATCCTTTAAC -3'

Posted On

2014-09-17