Mutagenetix > Incidental Mutations

Incidental Mutation 'R4806:Irgq'

370679

Institutional Source

Beutler Lab

Gene Symbol

Irgq

Ensembl Gene

ENSMUSG00000041037

Gene Name

immunity-related GTPase family, Q

Synonyms

FKSG27

MMRRC Submission

042425-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4806 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

24530689-24538600 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24534045 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 437 (L437Q)

Ref Sequence

ENSEMBL: ENSMUSP00000036699 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049020
AA Change: L437Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036699
Gene: ENSMUSG00000041037
AA Change: L437Q

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,565,645		probably null	Het
2410137M14Rik	T	A	17: 36,978,854	H28L	probably benign	Het
4930562C15Rik	T	C	16: 4,849,672	F309S	unknown	Het
Acd	A	G	8: 105,698,290	V406A	possibly damaging	Het
Acin1	A	T	14: 54,679,228		probably benign	Het
Agbl4	T	C	4: 110,955,637	V118A	probably damaging	Het
Arhgap5	A	G	12: 52,518,703	D819G	probably damaging	Het
BC049715	A	T	6: 136,839,929	I56F	possibly damaging	Het
C1rb	A	T	6: 124,574,949	Q270L	probably benign	Het
Cadps2	C	T	6: 23,688,860	R121Q	probably damaging	Het
Cd84	A	G	1: 171,852,121	Y122C	probably benign	Het
Cklf	C	A	8: 104,257,435	P77T	probably damaging	Het
Clrn2	T	C	5: 45,454,004	L65P	probably damaging	Het
Csde1	TCCTCGACCT	TCCT	3: 103,056,369		probably benign	Het
Csf2rb2	T	C	15: 78,285,290	D446G	probably benign	Het
Csmd3	T	C	15: 48,314,068	E358G	probably benign	Het
Dmkn	C	T	7: 30,771,242	T385I	possibly damaging	Het
Dnah10	A	G	5: 124,819,344	T3591A	probably damaging	Het
Dpp9	A	G	17: 56,190,030	L734P	probably damaging	Het
Edem2	A	G	2: 155,728,993	V39A	possibly damaging	Het
Glmp	A	C	3: 88,326,013		probably benign	Het
Gm20775	T	C	Y: 10,641,885		noncoding transcript	Het
Gpr179	T	G	11: 97,349,784	D271A	possibly damaging	Het
Gtf2ird1	A	G	5: 134,383,896	V587A	probably damaging	Het
Igfn1	T	A	1: 135,967,357	T1824S	probably benign	Het
Ighmbp2	A	T	19: 3,261,589	I942N	probably damaging	Het
Ints2	A	G	11: 86,256,209	L37P	probably benign	Het
Kcnq4	A	T	4: 120,713,094	W351R	probably damaging	Het
Kif3b	G	A	2: 153,320,368	A500T	probably damaging	Het
Lpp	A	G	16: 24,661,680	D66G	probably damaging	Het
Mapkap1	G	A	2: 34,597,422		probably null	Het
Mc4r	T	A	18: 66,859,488	I185F	probably damaging	Het
Mdga1	T	C	17: 29,842,154	D621G	probably benign	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Myh11	A	T	16: 14,201,083		probably null	Het
Naip1	G	A	13: 100,425,621	A1012V	probably benign	Het
Ntn4	C	T	10: 93,644,500	R29C	probably damaging	Het
Plb1	G	A	5: 32,289,852	G321D	probably damaging	Het
Plxnd1	A	G	6: 115,960,855	V1510A	probably damaging	Het
Polr1e	T	A	4: 45,024,482	M131K	probably benign	Het
Prdm10	T	A	9: 31,329,941	*342R	probably null	Het
Prex2	T	C	1: 11,068,020	F108L	probably damaging	Het
Psmg2	T	A	18: 67,648,922	I186N	probably benign	Het
Ros1	T	A	10: 52,096,175	E1614D	probably damaging	Het
Sin3a	G	A	9: 57,086,742	V44M	probably damaging	Het
Slco1a1	G	A	6: 141,909,009	L639F	possibly damaging	Het
Smr2	T	G	5: 88,098,430	L101*	probably null	Het
Spata31d1b	C	T	13: 59,715,721	P228S	probably benign	Het
Stat5b	G	T	11: 100,790,797	H544N	probably benign	Het
Syk	A	T	13: 52,632,927	Y319F	probably benign	Het
Tln2	G	T	9: 67,331,733	T1087K	probably benign	Het
Tsc22d1	A	G	14: 76,416,988		probably null	Het
Vmn2r52	T	A	7: 10,159,242	T657S	probably damaging	Het
Vmn2r63	A	T	7: 42,926,890	S500T	probably benign	Het
Vps45	A	C	3: 96,046,413	V209G	probably benign	Het
Xrcc1	C	A	7: 24,570,480	A442E	probably benign	Het
Ythdc1	T	A	5: 86,822,845	V430E	probably damaging	Het
Zfp341	G	A	2: 154,645,866		probably benign	Het
Zfp422	A	T	6: 116,626,662	N125K	probably damaging	Het
Zfp53	T	A	17: 21,505,001	D58E	possibly damaging	Het
Zfp707	C	T	15: 75,973,151	Q66*	probably null	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
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
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
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'- GCCCAGAATGCAAGTGATGG -3'
(R):5'- TTGTAGAAGTACACCGTGCG -3'

Sequencing Primer
(F):5'- AAAGCTGGCATCGGGGACTC -3'
(R):5'- GTAACCCAGCCCACCTGTTG -3'

Posted On

2016-02-04