Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24230114-24238025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24232763 bp (GRCm39)

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]

AlphaFold

Q8VIM9

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: 9,517,777 (GRCm39)	K4460*	probably null	Het
Adam21	A	G	12: 81,605,875 (GRCm39)	V629A	probably benign	Het
Adamts5	C	T	16: 85,665,006 (GRCm39)	V653I	probably damaging	Het
Adarb2	G	A	13: 8,609,169 (GRCm39)	A44T	probably benign	Het
Ank2	T	C	3: 127,132,808 (GRCm39)		probably benign	Het
Arhgap21	T	C	2: 20,868,024 (GRCm39)	Y833C	probably damaging	Het
Brwd1	A	G	16: 95,820,636 (GRCm39)	S1297P	probably damaging	Het
Cdc25b	G	T	2: 131,029,301 (GRCm39)		probably null	Het
Ciart	A	T	3: 95,786,214 (GRCm39)	V287D	probably damaging	Het
Csf2ra	A	G	19: 61,213,650 (GRCm39)	F353S	probably damaging	Het
D630045J12Rik	C	T	6: 38,119,592 (GRCm39)	E1717K	possibly damaging	Het
Dhcr24	A	G	4: 106,421,611 (GRCm39)	K82R	probably benign	Het
Dnah9	T	A	11: 65,998,947 (GRCm39)	T1034S	probably benign	Het
Dock6	T	C	9: 21,714,332 (GRCm39)	E1837G	probably damaging	Het
Eeig2	A	T	3: 108,900,019 (GRCm39)	S110T	possibly damaging	Het
Flg2	G	A	3: 93,107,541 (GRCm39)	V9I	probably damaging	Het
Hif1a	A	T	12: 73,988,918 (GRCm39)	T602S	probably benign	Het
Hip1	T	C	5: 135,440,117 (GRCm39)	E1015G	probably benign	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Isoc2b	C	A	7: 4,854,023 (GRCm39)	L116F	probably null	Het
Loxl3	A	T	6: 83,025,999 (GRCm39)	T416S	probably benign	Het
Map3k13	A	G	16: 21,746,798 (GRCm39)	*960W	probably null	Het
Morn1	A	G	4: 155,185,733 (GRCm39)	H183R	probably benign	Het
Mrc1	A	T	2: 14,313,523 (GRCm39)	N918I	probably damaging	Het
Nfxl1	A	G	5: 72,679,540 (GRCm39)	V763A	probably benign	Het
Or11g1	A	G	14: 50,651,439 (GRCm39)		probably null	Het
Or4c100	G	A	2: 88,356,824 (GRCm39)	W299*	probably null	Het
Papola	A	G	12: 105,789,859 (GRCm39)	K482E	probably benign	Het
Pck1	C	T	2: 172,998,792 (GRCm39)	T350I	probably damaging	Het
Peli2	G	A	14: 48,405,727 (GRCm39)	A51T	probably damaging	Het
Preb	T	C	5: 31,116,208 (GRCm39)	H133R	probably benign	Het
Rpl36-ps4	T	C	17: 88,228,685 (GRCm39)	V73A	probably benign	Het
Scaf11	G	A	15: 96,314,962 (GRCm39)	P1240L	probably benign	Het
Selenom	G	T	11: 3,466,882 (GRCm39)	E81*	probably null	Het
Serpinb1c	T	C	13: 33,081,081 (GRCm39)	M1V	probably null	Het
Tanc1	T	C	2: 59,615,685 (GRCm39)	S231P	possibly damaging	Het
Trappc10	C	T	10: 78,045,260 (GRCm39)	R476Q	probably damaging	Het
Twf2	T	A	9: 106,091,386 (GRCm39)	D200E	probably benign	Het
Vmn1r17	T	C	6: 57,337,999 (GRCm39)	Y122C	probably benign	Het
Vmn2r71	G	A	7: 85,272,922 (GRCm39)	D579N	probably benign	Het
Vrtn	A	T	12: 84,695,349 (GRCm39)	E33V	probably damaging	Het

Other mutations in Irgq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Irgq	APN	7	24,233,149 (GRCm39)	missense	probably damaging	1.00
IGL02639:Irgq	APN	7	24,230,887 (GRCm39)	missense	probably damaging	1.00
R4222:Irgq	UTSW	7	24,233,050 (GRCm39)	missense	possibly damaging	0.79
R4806:Irgq	UTSW	7	24,233,470 (GRCm39)	missense	probably damaging	1.00
R5980:Irgq	UTSW	7	24,232,770 (GRCm39)	missense	probably damaging	1.00
R6460:Irgq	UTSW	7	24,233,115 (GRCm39)	missense	probably benign	0.00
R6802:Irgq	UTSW	7	24,231,076 (GRCm39)	missense	probably benign
R7173:Irgq	UTSW	7	24,233,185 (GRCm39)	missense	probably damaging	0.99
R7465:Irgq	UTSW	7	24,233,834 (GRCm39)	missense	probably damaging	0.97
R8350:Irgq	UTSW	7	24,233,165 (GRCm39)	missense	probably benign	0.00
R8409:Irgq	UTSW	7	24,233,209 (GRCm39)	missense	probably benign
R8470:Irgq	UTSW	7	24,233,715 (GRCm39)	missense	probably damaging	1.00
R8785:Irgq	UTSW	7	24,233,005 (GRCm39)	missense	probably damaging	0.98
R9455:Irgq	UTSW	7	24,231,217 (GRCm39)	missense	probably benign	0.14
R9690:Irgq	UTSW	7	24,233,580 (GRCm39)	missense	probably benign	0.04
Z1176:Irgq	UTSW	7	24,231,226 (GRCm39)	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