Mutagenetix > Incidental Mutations

Incidental Mutation 'R6802:Irgq'

533379

Institutional Source

Beutler Lab

Gene Symbol

Irgq

Ensembl Gene

ENSMUSG00000041037

Gene Name

immunity-related GTPase family, Q

Synonyms

FKSG27

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6802 (G1)

Quality Score

175.009

Status

Validated

Chromosome

Chromosomal Location

24530689-24538600 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24531651 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 89 (E89G)

Ref Sequence

ENSEMBL: ENSMUSP00000036699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049020]

Predicted Effect

probably benign
Transcript: ENSMUST00000049020
AA Change: E89G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036699
Gene: ENSMUSG00000041037
AA Change: E89G

Domain	Start	End	E-Value	Type
SCOP:d4tmka_	12	61	7e-3	SMART
low complexity region	64	75	N/A	INTRINSIC
low complexity region	92	112	N/A	INTRINSIC
low complexity region	132	145	N/A	INTRINSIC
low complexity region	236	267	N/A	INTRINSIC
low complexity region	409	455	N/A	INTRINSIC
low complexity region	520	538	N/A	INTRINSIC
low complexity region	544	557	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	A	T	7: 116,099,490	K38N	probably damaging	Het
Agap3	T	A	5: 24,487,793	I408N	possibly damaging	Het
Apold1	G	A	6: 134,983,730	R49H	probably damaging	Het
Apopt1	G	T	12: 111,751,191	G162W	probably benign	Het
Arfgef1	A	T	1: 10,189,452	M597K	probably benign	Het
Bsn	C	T	9: 108,110,624		probably benign	Het
Ccdc177	A	T	12: 80,759,283	D72E	probably damaging	Het
Ctdp1	A	T	18: 80,420,441		probably null	Het
Ctsj	A	T	13: 61,003,074	L190M	probably benign	Het
Dhx57	A	G	17: 80,275,321	F285S	probably benign	Het
Dnah2	A	T	11: 69,423,690	V4051E	probably damaging	Het
F5	A	T	1: 164,179,356	D243V	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fbxo30	G	T	10: 11,291,480	G649C	probably damaging	Het
Focad	T	C	4: 88,274,203	S590P	unknown	Het
Focad	G	A	4: 88,344,684	V973I	unknown	Het
Glb1l3	T	C	9: 26,859,352		probably null	Het
Gli2	G	A	1: 118,842,065	R586C	probably damaging	Het
Gm6401	T	A	14: 41,966,917	E65V	probably damaging	Het
Gml2	T	A	15: 74,824,246	L163H	probably damaging	Het
Grm6	A	T	11: 50,853,389	Q229L	probably benign	Het
Gtf2h2	T	C	13: 100,480,543	M252V	probably benign	Het
Hsf4	G	A	8: 105,274,668	G309S	probably damaging	Het
Iglc1	T	C	16: 19,061,910		probably benign	Het
Kcnj6	T	C	16: 94,762,577	N354S	probably benign	Het
Lrguk	A	G	6: 34,062,457	H301R	probably damaging	Het
Mc4r	C	A	18: 66,859,417	M208I	probably benign	Het
Mrpl15	A	G	1: 4,776,730	S208P	probably benign	Het
Neil2	A	G	14: 63,191,814	F10S	probably damaging	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1054	G	T	2: 86,333,185	T57K	possibly damaging	Het
Olfr1186	A	G	2: 88,525,597	T5A	probably benign	Het
Olfr360	A	G	2: 37,068,415	M37V	probably benign	Het
Pacs1	T	C	19: 5,152,784	I357V	probably damaging	Het
Pla2g15	T	C	8: 106,150,581	L32P	probably damaging	Het
Pms1	A	T	1: 53,206,792	S529R	probably benign	Het
Prkra	A	T	2: 76,633,537	D260E	probably damaging	Het
Qsox1	A	C	1: 155,795,393	F127V	probably damaging	Het
Rabgap1l	A	T	1: 160,733,680	V161E	probably benign	Het
Robo1	T	G	16: 72,933,313	V214G	probably benign	Het
Ryr2	G	A	13: 11,686,966	A2935V	probably damaging	Het
Sgtb	A	T	13: 104,132,050	Q198L	probably benign	Het
Slc39a12	C	T	2: 14,420,085	L376F	probably benign	Het
Socs1	C	A	16: 10,784,358	V172L	probably benign	Het
Sprr2k	A	G	3: 92,433,364		probably benign	Het
Tgm1	C	T	14: 55,712,482		probably benign	Het
Tph2	A	T	10: 115,184,873	M6K	probably damaging	Het
Trav16	T	A	14: 53,743,484	C43*	probably null	Het
Ttll5	A	G	12: 85,879,386	E318G	probably damaging	Het
Vmn2r90	T	A	17: 17,712,089	I86N	probably damaging	Het
Zdhhc19	T	C	16: 32,506,358	S165P	possibly damaging	Het
Zfp352	A	T	4: 90,225,200	T526S	probably benign	Het

Other mutations in Irgq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Irgq	APN	7	24533724	missense	probably damaging	1.00
IGL02639:Irgq	APN	7	24531462	missense	probably damaging	1.00
R4222:Irgq	UTSW	7	24533625	missense	possibly damaging	0.79
R4806:Irgq	UTSW	7	24534045	missense	probably damaging	1.00
R5831:Irgq	UTSW	7	24533338	missense	probably damaging	0.96
R5980:Irgq	UTSW	7	24533345	missense	probably damaging	1.00
R6460:Irgq	UTSW	7	24533690	missense	probably benign	0.00
R7173:Irgq	UTSW	7	24533760	missense	probably damaging	0.99
R7465:Irgq	UTSW	7	24534409	missense	probably damaging	0.97
R8350:Irgq	UTSW	7	24533740	missense	probably benign	0.00
R8409:Irgq	UTSW	7	24533784	missense	probably benign
R8470:Irgq	UTSW	7	24534290	missense	probably damaging	1.00
Z1176:Irgq	UTSW	7	24531801	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACACGGTAGAGATTCCC -3'
(R):5'- AGTTGGATCTAAGGCCACCC -3'

Sequencing Primer
(F):5'- CACGGTAGAGATTCCCGATGGAC -3'
(R):5'- TCTAGCTCCTCGCAGCG -3'

Posted On

2018-09-12