Mutagenetix > Incidental Mutations

Incidental Mutation 'R5831:Irgq'

449313

Institutional Source

Beutler Lab

Gene Symbol

Irgq

Ensembl Gene

ENSMUSG00000041037

Gene Name

immunity-related GTPase family, Q

Synonyms

FKSG27

MMRRC Submission

043220-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24530689-24538600 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24533338 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 201 (F201L)

Ref Sequence

ENSEMBL: ENSMUSP00000036699 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049020
AA Change: F201L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036699
Gene: ENSMUSG00000041037
AA Change: F201L

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: 99.7%
10x: 98.8%
20x: 96.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,567,777	K4460*	probably null	Het
Adam21	A	G	12: 81,559,101	V629A	probably benign	Het
Adamts5	C	T	16: 85,868,118	V653I	probably damaging	Het
Adarb2	G	A	13: 8,559,133	A44T	probably benign	Het
Ank2	T	C	3: 127,339,159		probably benign	Het
Arhgap21	T	C	2: 20,863,213	Y833C	probably damaging	Het
Brwd1	A	G	16: 96,019,436	S1297P	probably damaging	Het
Cdc25b	G	T	2: 131,187,381		probably null	Het
Ciart	A	T	3: 95,878,902	V287D	probably damaging	Het
Csf2ra	A	G	19: 61,225,212	F353S	probably damaging	Het
D630045J12Rik	C	T	6: 38,142,657	E1717K	possibly damaging	Het
Dhcr24	A	G	4: 106,564,414	K82R	probably benign	Het
Dnah9	T	A	11: 66,108,121	T1034S	probably benign	Het
Dock6	T	C	9: 21,803,036	E1837G	probably damaging	Het
Fam102b	A	T	3: 108,992,703	S110T	possibly damaging	Het
Flg2	G	A	3: 93,200,234	V9I	probably damaging	Het
Hif1a	A	T	12: 73,942,144	T602S	probably benign	Het
Hip1	T	C	5: 135,411,263	E1015G	probably benign	Het
Iqgap2	C	T	13: 95,675,372	R707H	probably damaging	Het
Isoc2b	C	A	7: 4,851,024	L116F	probably null	Het
Loxl3	A	T	6: 83,049,018	T416S	probably benign	Het
Map3k13	A	G	16: 21,928,048	*960W	probably null	Het
Morn1	A	G	4: 155,101,276	H183R	probably benign	Het
Mrc1	A	T	2: 14,308,712	N918I	probably damaging	Het
Nfxl1	A	G	5: 72,522,197	V763A	probably benign	Het
Olfr1186	G	A	2: 88,526,480	W299*	probably null	Het
Olfr738	A	G	14: 50,413,982		probably null	Het
Papola	A	G	12: 105,823,600	K482E	probably benign	Het
Pck1	C	T	2: 173,156,999	T350I	probably damaging	Het
Peli2	G	A	14: 48,168,270	A51T	probably damaging	Het
Preb	T	C	5: 30,958,864	H133R	probably benign	Het
Rpl36-ps4	T	C	17: 87,921,257	V73A	probably benign	Het
Scaf11	G	A	15: 96,417,081	P1240L	probably benign	Het
Selenom	G	T	11: 3,516,882	E81*	probably null	Het
Serpinb1c	T	C	13: 32,897,098	M1V	probably null	Het
Tanc1	T	C	2: 59,785,341	S231P	possibly damaging	Het
Trappc10	C	T	10: 78,209,426	R476Q	probably damaging	Het
Twf2	T	A	9: 106,214,187	D200E	probably benign	Het
Vmn1r17	T	C	6: 57,361,014	Y122C	probably benign	Het
Vmn2r71	G	A	7: 85,623,714	D579N	probably benign	Het
Vrtn	A	T	12: 84,648,575	E33V	probably damaging	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
R5980:Irgq	UTSW	7	24533345	missense	probably damaging	1.00
R6460:Irgq	UTSW	7	24533690	missense	probably benign	0.00
R6802:Irgq	UTSW	7	24531651	missense	probably benign
R7173:Irgq	UTSW	7	24533760	missense	probably damaging	0.99
R7465:Irgq	UTSW	7	24534409	missense	probably damaging	0.97
R8409:Irgq	UTSW	7	24533784	missense	probably benign
Z1176:Irgq	UTSW	7	24531801	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACTCTCTTAACTTTATGGTCCCG -3'
(R):5'- CAAGGATCAGGGCATCGTAG -3'

Sequencing Primer
(F):5'- CTGGCCTTGAACTCAGAGATCTG -3'
(R):5'- AACGGTCCAGAGCACTACGTTG -3'

Posted On

2016-12-20