Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Irgq'

481379

Institutional Source

Beutler Lab

Gene Symbol

Irgq

Ensembl Gene

ENSMUSG00000041037

Gene Name

immunity-related GTPase family, Q

Synonyms

FKSG27

MMRRC Submission

044162-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24530689-24538600 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24533345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 204 (G204S)

Ref Sequence

ENSEMBL: ENSMUSP00000036699 (fasta)

Gene Model

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

AlphaFold

Q8VIM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000049020
AA Change: G204S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036699
Gene: ENSMUSG00000041037
AA Change: G204S

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

Meta Mutation Damage Score

0.2256

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,567,055	N508D	possibly damaging	Het
Ago1	C	T	4: 126,460,569		probably benign	Het
Apol6	A	T	15: 77,051,019	T163S	possibly damaging	Het
Arhgap27	T	C	11: 103,356,269	T33A	probably benign	Het
Atg7	C	A	6: 114,680,236	F132L	possibly damaging	Het
Cep104	C	A	4: 153,988,473	A396E	probably benign	Het
Cers4	T	A	8: 4,518,269	C107*	probably null	Het
Cntn6	T	C	6: 104,848,132	S878P	probably damaging	Het
Dnah6	T	C	6: 73,181,722	K633E	probably benign	Het
Dst	T	A	1: 34,182,891	I2592K	probably benign	Het
Ep400	G	A	5: 110,733,729		probably benign	Het
Fbn1	A	G	2: 125,315,404	C2320R	probably damaging	Het
Gm17677	A	C	9: 35,741,615	D51A	probably damaging	Het
Gpi1	A	G	7: 34,228,926		probably null	Het
Gse1	T	G	8: 120,229,637		probably benign	Het
Hid1	G	A	11: 115,350,948	T612I	possibly damaging	Het
Ighmbp2	G	T	19: 3,265,295	H708Q	probably benign	Het
Igkv10-95	T	C	6: 68,680,589	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,519,025	V5A	probably benign	Het
Kansl1	T	C	11: 104,343,637	K681R	possibly damaging	Het
Kcnv1	C	A	15: 45,109,414	V358L	probably damaging	Het
Lrp2	A	T	2: 69,535,005	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,137,908	D155V	probably damaging	Het
Magel2	A	T	7: 62,380,596	I1083F	unknown	Het
Mta3	T	A	17: 83,708,405	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,604,151	I423T	probably damaging	Het
Mup11	A	G	4: 60,660,888	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,911,096	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509	Q72P	possibly damaging	Het
Nol4	T	A	18: 22,952,201	Q52L	probably damaging	Het
Nrcam	T	C	12: 44,571,633	V808A	probably damaging	Het
Olfr1058	A	T	2: 86,385,797	L207*	probably null	Het
Olfr9	A	G	10: 128,990,440	H176R	probably damaging	Het
Olfr993	A	T	2: 85,414,165	F238Y	probably damaging	Het
Pik3c2b	C	A	1: 133,088,308	D869E	probably benign	Het
Pom121l2	T	C	13: 21,983,376	S606P	probably damaging	Het
Prdm15	G	A	16: 97,812,570	R517*	probably null	Het
Ralgapa1	T	A	12: 55,770,616		probably null	Het
Saraf	T	A	8: 34,165,387	F207I	probably benign	Het
Sema6d	A	G	2: 124,664,708	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,201,972	L14M	unknown	Het
Sidt1	A	T	16: 44,263,312	C485*	probably null	Het
Sptbn4	A	G	7: 27,372,171	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,980,408	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Ticrr	G	A	7: 79,660,955	A206T	probably damaging	Het
Tmem132d	T	A	5: 127,784,598	I820F	probably benign	Het
Trafd1	A	G	5: 121,373,457	Y433H	probably damaging	Het
Trim68	A	G	7: 102,678,831	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,865,056	Y163F	possibly damaging	Het
Vmn2r83	T	A	10: 79,478,792	H291Q	probably benign	Het
Vmn2r95	A	G	17: 18,441,362	I457V	probably benign	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
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
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'- GGGACTTAAGCTCTTCCCTG -3'
(R):5'- AGGATCAGGGCATCGTAGTG -3'

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

Posted On

2017-06-26