Mutagenetix > Incidental Mutation

Incidental Mutation 'R7465:Irgq'

578703

Institutional Source

Beutler Lab

Gene Symbol

Irgq

Ensembl Gene

ENSMUSG00000041037

Gene Name

immunity-related GTPase family, Q

Synonyms

FKSG27

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24530689-24538600 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24534409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 558 (H558Q)

Ref Sequence

ENSEMBL: ENSMUSP00000036699 (fasta)

Gene Model

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

AlphaFold

Q8VIM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000049020
AA Change: H558Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036699
Gene: ENSMUSG00000041037
AA Change: H558Q

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	T	13: 30,381,981	D343V	probably benign	Het
Anks1	G	A	17: 28,054,323	R972Q	possibly damaging	Het
Atp2a2	T	C	5: 122,461,700	K543E	probably benign	Het
Atp8b5	G	A	4: 43,271,269	V4I	probably benign	Het
Bcar3	A	T	3: 122,523,230	N617Y	probably benign	Het
Blm	A	G	7: 80,513,115	S163P	probably benign	Het
Cbx3	A	G	6: 51,478,530	D87G	probably benign	Het
Celsr1	A	G	15: 86,033,392	S127P	probably benign	Het
Cndp1	A	T	18: 84,619,541	M356K	probably damaging	Het
Cnn2	G	A	10: 79,992,527	E113K	probably damaging	Het
Col17a1	T	A	19: 47,668,105	R573*	probably null	Het
Cttnbp2	T	A	6: 18,501,992	E49V	probably damaging	Het
Dynlrb2	T	A	8: 116,514,957	V80E	possibly damaging	Het
Ehbp1	A	G	11: 22,138,001	V386A	probably benign	Het
Elfn1	C	T	5: 139,972,087	P282L	probably benign	Het
Fam69a	T	C	5: 107,909,684	D336G	probably damaging	Het
Fan1	G	A	7: 64,353,638	T812I	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat1	G	A	8: 45,044,152	V4225I	probably benign	Het
Frem1	A	G	4: 82,914,835	C1873R	probably benign	Het
Fsd1l	T	C	4: 53,647,755	I66T	probably benign	Het
Gabrr1	C	A	4: 33,146,970	D52E	probably benign	Het
Il18rap	T	C	1: 40,543,089	L390P	probably damaging	Het
Il27ra	T	A	8: 84,039,612	D181V	probably benign	Het
Itsn2	C	T	12: 4,706,983	Q1358*	probably null	Het
Kmt2c	C	T	5: 25,302,849	G3197S	probably damaging	Het
Lrrk2	A	G	15: 91,767,340	Y1733C	probably damaging	Het
Mapk7	G	A	11: 61,490,453	A510V	probably damaging	Het
Mtch1	A	T	17: 29,332,724	C385S	probably benign	Het
Nfib	A	G	4: 82,353,521		probably null	Het
Nostrin	C	T	2: 69,185,507	T448M	possibly damaging	Het
Olfr1066	A	G	2: 86,455,806	V155A	probably benign	Het
Olfr1255	T	C	2: 89,816,536	L64P	probably damaging	Het
Olfr1436	T	C	19: 12,298,437	I232V	probably benign	Het
Olfr1441	T	A	19: 12,423,145	Y279N	probably damaging	Het
Olfr533	T	A	7: 140,466,798	V199D	probably damaging	Het
Olfr670	A	G	7: 104,959,917	Y272H	probably benign	Het
Pcdha2	T	C	18: 36,940,330	V338A	probably damaging	Het
Pcdhgc3	A	G	18: 37,807,745	T400A	probably benign	Het
Piezo2	C	T	18: 63,012,723	S2710N	probably benign	Het
Ppp4r1	T	A	17: 65,831,020	Y591*	probably null	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rab42	T	C	4: 132,302,614	E99G	possibly damaging	Het
Rd3l	A	T	12: 111,979,482	W188R	probably damaging	Het
Sap30bp	A	G	11: 115,951,968	D89G	probably benign	Het
Sptbn4	T	C	7: 27,366,689	T1985A	probably benign	Het
Tec	T	C	5: 72,773,880	Y247C	probably damaging	Het
Tek	G	A	4: 94,827,826		probably null	Het
Tex14	T	C	11: 87,514,430	S723P	possibly damaging	Het
Thumpd3	T	A	6: 113,047,631	L62Q	probably damaging	Het
Tlr12	A	T	4: 128,616,170	D762E	probably damaging	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Txndc16	T	A	14: 45,165,388	I316F	probably damaging	Het
Vamp1	T	C	6: 125,218,575	S2P	unknown	Het
Vmn1r211	T	A	13: 22,851,916	M194L	probably benign	Het
Zfp874a	T	A	13: 67,442,257	Q436L	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
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
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
R8785:Irgq	UTSW	7	24533580	missense	probably damaging	0.98
R9455:Irgq	UTSW	7	24531792	missense	probably benign	0.14
R9690:Irgq	UTSW	7	24534155	missense	probably benign	0.04
Z1176:Irgq	UTSW	7	24531801	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGCTGGCATCGGGGACT -3'
(R):5'- CCTTCAAGTCTCCGGGTTTGA -3'

Sequencing Primer
(F):5'- TCCCGGAGTACTGGCAAC -3'
(R):5'- CAAGTCTCCGGGTTTGAATAAC -3'

Posted On

2019-10-07