Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01293:Irgq'

72975

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irgq

Ensembl Gene

ENSMUSG00000041037

Gene Name

immunity-related GTPase family, Q

Synonyms

FKSG27

Accession Numbers

Essential gene?

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

Stock #

IGL01293

Quality Score

Status

Chromosome

Chromosomal Location

24230114-24238025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24233149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 330 (D330G)

Ref Sequence

ENSEMBL: ENSMUSP00000036699 (fasta)

Gene Model

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

AlphaFold

Q8VIM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000049020
AA Change: D330G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036699
Gene: ENSMUSG00000041037
AA Change: D330G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,190,226 (GRCm39)	V25A	probably benign	Het
Aadacl4fm5	G	T	4: 144,504,159 (GRCm39)	H331N	probably benign	Het
Aagab	T	C	9: 63,543,751 (GRCm39)	V235A	probably benign	Het
Ash1l	T	C	3: 88,890,836 (GRCm39)	V905A	probably benign	Het
Atrx	A	G	X: 104,919,801 (GRCm39)	S641P	probably benign	Het
Bnc1	T	C	7: 81,624,237 (GRCm39)	E330G	probably damaging	Het
Cenpq	A	T	17: 41,244,067 (GRCm39)	S4T	possibly damaging	Het
Clvs1	T	A	4: 9,281,559 (GRCm39)	M1K	probably null	Het
Cul2	A	G	18: 3,419,426 (GRCm39)	K196E	probably damaging	Het
Cyp2d10	A	T	15: 82,287,210 (GRCm39)	V471E	possibly damaging	Het
Efhc2	T	A	X: 17,073,934 (GRCm39)	I469L	probably benign	Het
Fhod3	C	T	18: 25,153,709 (GRCm39)		probably benign	Het
Gm1968	A	G	16: 29,777,632 (GRCm39)		noncoding transcript	Het
Hpdl	T	A	4: 116,678,141 (GRCm39)	T107S	possibly damaging	Het
Il1rl1	G	A	1: 40,485,376 (GRCm39)	G276D	possibly damaging	Het
Kdm4b	A	G	17: 56,660,019 (GRCm39)	D62G	probably benign	Het
Lama2	T	C	10: 27,107,632 (GRCm39)	T793A	probably benign	Het
Lrrk2	T	C	15: 91,610,340 (GRCm39)	F691L	probably benign	Het
Macf1	C	T	4: 123,365,104 (GRCm39)	G1654E	probably benign	Het
Mgat4c	A	T	10: 102,224,086 (GRCm39)	Y100F	probably benign	Het
Ncapg	A	G	5: 45,839,196 (GRCm39)	N532S	probably benign	Het
Nfkb1	T	C	3: 135,296,600 (GRCm39)	D782G	probably damaging	Het
Nthl1	G	T	17: 24,857,683 (GRCm39)	C294F	probably damaging	Het
Obp2b	A	G	2: 25,627,719 (GRCm39)	H45R	probably benign	Het
Olfm1	A	G	2: 28,104,715 (GRCm39)	E156G	probably damaging	Het
Or14j2	A	G	17: 37,886,308 (GRCm39)	I2T	probably benign	Het
Or7g29	C	A	9: 19,286,632 (GRCm39)	A182S	probably benign	Het
Otud6b	A	G	4: 14,822,682 (GRCm39)		probably benign	Het
Patl2	T	C	2: 121,954,291 (GRCm39)	T427A	probably benign	Het
Pdzd8	T	A	19: 59,288,218 (GRCm39)	R1061W	probably damaging	Het
Plk3	A	T	4: 116,990,194 (GRCm39)	L137*	probably null	Het
Rps6ka6	T	C	X: 110,360,059 (GRCm39)		probably benign	Het
Shank1	T	C	7: 44,003,660 (GRCm39)	V1784A	possibly damaging	Het
Smc1b	A	T	15: 85,016,099 (GRCm39)	S14T	probably damaging	Het
Sox4	C	A	13: 29,136,664 (GRCm39)	R114L	probably damaging	Het
Speg	C	T	1: 75,364,746 (GRCm39)	R221W	probably damaging	Het
Tram1l1	T	C	3: 124,115,788 (GRCm39)	V316A	probably benign	Het
Virma	G	T	4: 11,521,114 (GRCm39)	K840N	probably damaging	Het
Vmn1r49	A	T	6: 90,049,394 (GRCm39)	S203T	probably damaging	Het
Wdr1	T	C	5: 38,686,886 (GRCm39)	T293A	probably benign	Het
Xirp2	C	T	2: 67,345,528 (GRCm39)	P2590S	possibly damaging	Het
Zfp106	T	C	2: 120,365,516 (GRCm39)	Y297C	possibly damaging	Het
Zfp128	A	G	7: 12,625,351 (GRCm39)	*573W	probably null	Het
Zfp575	G	A	7: 24,285,182 (GRCm39)	P153L	probably damaging	Het

Other mutations in Irgq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5831:Irgq	UTSW	7	24,232,763 (GRCm39)	missense	probably damaging	0.96
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

Posted On

2013-10-07