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: 0.055) question?

Stock #

R2124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105224332-105258255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105242409 bp (GRCm39)

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: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Adgrg6	T	C	10: 14,342,930 (GRCm39)	D339G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Arap3	A	C	18: 38,106,403 (GRCm39)	L1480R	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Aspg	G	A	12: 112,087,608 (GRCm39)	V8I	probably benign	Het
Aven	T	A	2: 112,455,541 (GRCm39)	W26R	probably damaging	Het
Car4	T	A	11: 84,854,911 (GRCm39)		probably benign	Het
Cd163	C	T	6: 124,295,815 (GRCm39)	R720C	probably damaging	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cdh3	A	T	8: 107,279,520 (GRCm39)	H712L	probably damaging	Het
Cdr2	T	C	7: 120,581,250 (GRCm39)	E9G	probably damaging	Het
Cfap47	T	C	X: 78,553,927 (GRCm39)	I267V	probably benign	Het
Chrnb2	T	C	3: 89,676,648 (GRCm39)		probably benign	Het
Col4a2	C	A	8: 11,466,070 (GRCm39)	P443Q	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Ddias	T	C	7: 92,507,464 (GRCm39)	Q817R	probably benign	Het
Ddx6	C	T	9: 44,535,816 (GRCm39)	Q182*	probably null	Het
Dhrs7	A	G	12: 72,699,951 (GRCm39)	I227T	probably damaging	Het
Dhx8	A	T	11: 101,653,071 (GRCm39)	M970L	probably damaging	Het
Dnah7a	A	T	1: 53,536,101 (GRCm39)	D2647E	possibly damaging	Het
Dstyk	G	A	1: 132,380,857 (GRCm39)	G451R	possibly damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Efl1	C	T	7: 82,342,121 (GRCm39)	R510C	probably damaging	Het
Eif4g3	A	G	4: 137,912,053 (GRCm39)	E1409G	probably damaging	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fcgbp	T	C	7: 27,791,444 (GRCm39)	Y902H	probably benign	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gm10477	A	G	X: 55,570,192 (GRCm39)	K31E	probably damaging	Het
Gm10542	T	A	18: 44,334,355 (GRCm39)	W9R	probably null	Het
Gpaa1	A	G	15: 76,217,552 (GRCm39)	Y330C	probably damaging	Het
Hectd4	T	C	5: 121,456,702 (GRCm39)	L689P	probably damaging	Het
Hoxd3	C	A	2: 74,574,578 (GRCm39)	P75T	possibly damaging	Het
Ikbkb	A	G	8: 23,156,036 (GRCm39)	L570P	probably damaging	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints6l	T	A	X: 55,550,228 (GRCm39)	S718T	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Kidins220	G	A	12: 25,091,302 (GRCm39)		probably null	Het
Kif1b	T	C	4: 149,306,753 (GRCm39)	D869G	probably benign	Het
Loxl2	T	C	14: 69,929,859 (GRCm39)	Y746H	probably benign	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Mageb5	A	G	X: 90,823,701 (GRCm39)	I226T	probably damaging	Het
Msantd2	C	T	9: 37,434,227 (GRCm39)	R357W	probably damaging	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Or7e173	T	G	9: 19,938,797 (GRCm39)	I146L	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,537,297 (GRCm39)	V1716A	probably benign	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Rims1	T	A	1: 22,474,732 (GRCm39)	R200*	probably null	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Sall3	C	T	18: 81,015,012 (GRCm39)	G972D	probably benign	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Sdk1	C	A	5: 142,170,943 (GRCm39)	D1935E	possibly damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Syt16	T	A	12: 74,285,009 (GRCm39)	S401T	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tbcd	A	G	11: 121,494,146 (GRCm39)	Y983C	probably damaging	Het
Tenm3	A	G	8: 48,870,041 (GRCm39)		probably null	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Top2a	T	C	11: 98,895,054 (GRCm39)	I849V	probably benign	Het
Ttn	A	G	2: 76,624,792 (GRCm39)	V13516A	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn2r121	A	T	X: 123,043,439 (GRCm39)		probably null	Het
Vmn2r84	A	C	10: 130,227,100 (GRCm39)	M246R	probably damaging	Het
Vps13b	T	A	15: 35,646,226 (GRCm39)	N1443K	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp616	A	G	11: 73,973,869 (GRCm39)		probably null	Het
Zmym1	T	C	4: 126,943,363 (GRCm39)	T244A	probably benign	Het

Other mutations in Gbp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Gbp9	APN	5	105,229,130 (GRCm39)	missense	probably benign	0.01
IGL00419:Gbp9	APN	5	105,241,943 (GRCm39)	missense	probably benign	0.05
IGL00425:Gbp9	APN	5	105,253,620 (GRCm39)	missense	possibly damaging	0.82
IGL00597:Gbp9	APN	5	105,242,364 (GRCm39)	missense	probably damaging	1.00
IGL01362:Gbp9	APN	5	105,228,072 (GRCm39)	missense	probably damaging	1.00
IGL01679:Gbp9	APN	5	105,233,038 (GRCm39)	splice site	probably null
IGL01803:Gbp9	APN	5	105,232,884 (GRCm39)	missense	probably damaging	0.99
IGL01803:Gbp9	APN	5	105,242,039 (GRCm39)	missense	probably damaging	1.00
IGL02054:Gbp9	APN	5	105,230,673 (GRCm39)	missense	probably benign	0.12
IGL02474:Gbp9	APN	5	105,242,433 (GRCm39)	splice site	probably benign
IGL02633:Gbp9	APN	5	105,231,431 (GRCm39)	splice site	probably benign
IGL02666:Gbp9	APN	5	105,242,141 (GRCm39)	splice site	probably null
IGL02689:Gbp9	APN	5	105,253,662 (GRCm39)	missense	probably benign	0.11
IGL02812:Gbp9	APN	5	105,231,624 (GRCm39)	missense	probably damaging	1.00
IGL03132:Gbp9	APN	5	105,232,819 (GRCm39)	missense	possibly damaging	0.83
IGL03274:Gbp9	APN	5	105,230,652 (GRCm39)	missense	possibly damaging	0.58
R0410:Gbp9	UTSW	5	105,232,939 (GRCm39)	missense	probably benign	0.17
R1018:Gbp9	UTSW	5	105,228,126 (GRCm39)	missense	probably benign	0.15
R1479:Gbp9	UTSW	5	105,241,930 (GRCm39)	splice site	probably benign
R1655:Gbp9	UTSW	5	105,229,558 (GRCm39)	missense	possibly damaging	0.76
R1658:Gbp9	UTSW	5	105,242,334 (GRCm39)	missense	probably damaging	0.98
R1757:Gbp9	UTSW	5	105,242,319 (GRCm39)	missense	probably damaging	1.00
R1950:Gbp9	UTSW	5	105,229,112 (GRCm39)	missense	probably benign	0.01
R1986:Gbp9	UTSW	5	105,253,652 (GRCm39)	missense	probably damaging	0.98
R1986:Gbp9	UTSW	5	105,253,590 (GRCm39)	missense	probably damaging	1.00
R2302:Gbp9	UTSW	5	105,241,958 (GRCm39)	missense	possibly damaging	0.47
R2378:Gbp9	UTSW	5	105,228,042 (GRCm39)	missense	probably benign	0.02
R2997:Gbp9	UTSW	5	105,230,635 (GRCm39)	missense	probably benign	0.00
R3745:Gbp9	UTSW	5	105,253,724 (GRCm39)	start gained	probably benign
R4182:Gbp9	UTSW	5	105,231,461 (GRCm39)	missense	probably benign	0.08
R4485:Gbp9	UTSW	5	105,231,674 (GRCm39)	missense	probably damaging	0.97
R4718:Gbp9	UTSW	5	105,231,624 (GRCm39)	missense	probably damaging	1.00
R5063:Gbp9	UTSW	5	105,233,028 (GRCm39)	missense	probably benign
R5099:Gbp9	UTSW	5	105,242,379 (GRCm39)	missense	probably damaging	1.00
R5104:Gbp9	UTSW	5	105,228,007 (GRCm39)	missense	probably benign	0.00
R5199:Gbp9	UTSW	5	105,231,678 (GRCm39)	missense	probably benign	0.04
R5712:Gbp9	UTSW	5	105,242,421 (GRCm39)	missense	possibly damaging	0.80
R5751:Gbp9	UTSW	5	105,229,124 (GRCm39)	missense	probably benign	0.06
R5895:Gbp9	UTSW	5	105,230,724 (GRCm39)	missense	probably damaging	1.00
R6360:Gbp9	UTSW	5	105,231,596 (GRCm39)	missense	probably benign	0.03
R6646:Gbp9	UTSW	5	105,230,769 (GRCm39)	missense	probably benign	0.13
R7559:Gbp9	UTSW	5	105,232,975 (GRCm39)	missense	probably damaging	1.00
R7819:Gbp9	UTSW	5	105,251,745 (GRCm39)	missense	possibly damaging	0.65
R8042:Gbp9	UTSW	5	105,242,108 (GRCm39)	missense	probably damaging	1.00
R8288:Gbp9	UTSW	5	105,253,599 (GRCm39)	missense	probably damaging	1.00
R8303:Gbp9	UTSW	5	105,229,171 (GRCm39)	missense	possibly damaging	0.94
R8354:Gbp9	UTSW	5	105,242,027 (GRCm39)	missense	probably damaging	0.97
R8395:Gbp9	UTSW	5	105,228,069 (GRCm39)	missense	probably damaging	1.00
R8397:Gbp9	UTSW	5	105,231,464 (GRCm39)	missense	possibly damaging	0.94
R8751:Gbp9	UTSW	5	105,229,117 (GRCm39)	missense	possibly damaging	0.49
R8808:Gbp9	UTSW	5	105,232,875 (GRCm39)	missense	probably damaging	1.00
R9105:Gbp9	UTSW	5	105,241,942 (GRCm39)	missense	probably benign	0.11
R9116:Gbp9	UTSW	5	105,231,695 (GRCm39)	missense
R9354:Gbp9	UTSW	5	105,232,825 (GRCm39)	missense	possibly damaging	0.79
R9513:Gbp9	UTSW	5	105,229,091 (GRCm39)	missense	probably benign	0.06
R9709:Gbp9	UTSW	5	105,231,542 (GRCm39)	missense	probably damaging	0.99
R9717:Gbp9	UTSW	5	105,253,587 (GRCm39)	nonsense	probably null
Z1088:Gbp9	UTSW	5	105,241,991 (GRCm39)	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