Mutagenetix > Incidental Mutation

Incidental Mutation 'R6508:Irgm2'

524011

Institutional Source

Beutler Lab

Gene Symbol

Irgm2

Ensembl Gene

ENSMUSG00000069874

Gene Name

immunity-related GTPase family M member 2

Synonyms

Iigp2, Gtpi

MMRRC Submission

044638-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58105803-58113609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58110327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 18 (E18G)

Ref Sequence

ENSEMBL: ENSMUSP00000146805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058704] [ENSMUST00000108836] [ENSMUST00000209079]

AlphaFold

A0A140LIF8

Predicted Effect

probably benign
Transcript: ENSMUST00000058704
AA Change: E6G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: E6G

Domain	Start	End	E-Value	Type
Pfam:IIGP	30	387	8.1e-165	PFAM
Pfam:MMR_HSR1	66	179	9.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108836
AA Change: E6G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: E6G

Domain	Start	End	E-Value	Type
Pfam:IIGP	30	387	4.9e-164	PFAM
Pfam:MMR_HSR1	66	179	2.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209079
AA Change: E18G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	G	A	4: 144,291,590 (GRCm39)	R39*	probably null	Het
Brca2	A	T	5: 150,460,058 (GRCm39)	E444D	possibly damaging	Het
Camkk2	G	T	5: 122,884,382 (GRCm39)	N346K	probably damaging	Het
Car4	C	A	11: 84,856,469 (GRCm39)	D252E	possibly damaging	Het
Chd1	A	G	17: 15,958,895 (GRCm39)	K649R	probably benign	Het
Col12a1	A	G	9: 79,557,231 (GRCm39)	Y1966H	probably damaging	Het
Crppa	C	T	12: 36,476,298 (GRCm39)	A180V	possibly damaging	Het
Cts6	T	A	13: 61,344,221 (GRCm39)	H277L	probably damaging	Het
Dcc	G	T	18: 71,439,144 (GRCm39)	P1246Q	probably damaging	Het
Dlg5	G	A	14: 24,188,774 (GRCm39)	T1739I	probably benign	Het
Eci1	T	A	17: 24,656,283 (GRCm39)	N164K	probably damaging	Het
Entpd7	G	A	19: 43,679,525 (GRCm39)	R26H	probably damaging	Het
Fanci	A	G	7: 79,093,516 (GRCm39)	K1008E	probably damaging	Het
Htr2b	T	C	1: 86,030,186 (GRCm39)	T170A	possibly damaging	Het
Kdm1a	A	T	4: 136,281,621 (GRCm39)	V630E	probably damaging	Het
Keap1	G	A	9: 21,143,010 (GRCm39)	T501I	possibly damaging	Het
L3mbtl3	T	A	10: 26,194,325 (GRCm39)	H424L	unknown	Het
Lrrc14b	C	T	13: 74,511,337 (GRCm39)	D248N	possibly damaging	Het
Macf1	T	A	4: 123,363,535 (GRCm39)	D3364V	probably damaging	Het
Map3k20	G	A	2: 72,272,253 (GRCm39)	G794S	probably benign	Het
Mcat	T	C	15: 83,433,452 (GRCm39)	Q34R	probably benign	Het
Mettl4	T	C	17: 95,051,373 (GRCm39)	E148G	probably damaging	Het
Mgat3	T	C	15: 80,096,225 (GRCm39)	S351P	possibly damaging	Het
Mllt1	A	T	17: 57,234,054 (GRCm39)	I44N	probably damaging	Het
Mlxipl	G	T	5: 135,157,474 (GRCm39)	A337S	probably benign	Het
Naip1	A	G	13: 100,572,973 (GRCm39)	F254L	probably damaging	Het
Obscn	A	T	11: 58,944,973 (GRCm39)		probably null	Het
Or10q1	C	T	19: 13,726,718 (GRCm39)	P83S	probably damaging	Het
Pcdh12	G	A	18: 38,414,390 (GRCm39)	R912*	probably null	Het
Pcdh17	A	G	14: 84,685,419 (GRCm39)	N629D	probably damaging	Het
Pcnx1	T	C	12: 81,959,479 (GRCm39)	I170T	probably damaging	Het
Pgr	A	G	9: 8,956,290 (GRCm39)	Y746C	probably damaging	Het
Pramel29	A	T	4: 143,934,171 (GRCm39)	L312*	probably null	Het
Pum2	T	C	12: 8,798,861 (GRCm39)	Y991H	probably benign	Het
Rcc1l	A	T	5: 134,198,077 (GRCm39)	V185D	probably damaging	Het
Scarb1	A	T	5: 125,381,389 (GRCm39)	S52T	possibly damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Spata4	T	C	8: 55,053,887 (GRCm39)	S18P	probably benign	Het
Stard13	G	A	5: 150,986,754 (GRCm39)	T134I	probably benign	Het
Tbc1d32	C	T	10: 56,100,786 (GRCm39)	C64Y	probably damaging	Het
Tll1	T	G	8: 64,551,494 (GRCm39)	I296L	probably damaging	Het
Tmem229b	T	G	12: 79,011,680 (GRCm39)	T84P	probably damaging	Het
Ttn	T	C	2: 76,544,757 (GRCm39)	T32782A	possibly damaging	Het
Vmn1r73	G	A	7: 11,490,631 (GRCm39)	V150I	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,290 (GRCm39)	F705L	probably benign	Het

Other mutations in Irgm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01843:Irgm2	APN	11	58,111,167 (GRCm39)	missense	probably benign	0.00
IGL01933:Irgm2	APN	11	58,110,783 (GRCm39)	missense	possibly damaging	0.95
IGL02115:Irgm2	APN	11	58,110,948 (GRCm39)	missense	probably benign	0.21
IGL02398:Irgm2	APN	11	58,110,755 (GRCm39)	missense	probably damaging	1.00
IGL02708:Irgm2	APN	11	58,111,350 (GRCm39)	missense	probably benign	0.00
IGL02730:Irgm2	APN	11	58,110,816 (GRCm39)	missense	probably benign	0.26
R0282:Irgm2	UTSW	11	58,110,345 (GRCm39)	missense	probably benign	0.00
R1621:Irgm2	UTSW	11	58,111,364 (GRCm39)	missense	probably benign
R1717:Irgm2	UTSW	11	58,111,461 (GRCm39)	missense	probably damaging	1.00
R1980:Irgm2	UTSW	11	58,110,902 (GRCm39)	missense	probably damaging	0.99
R1986:Irgm2	UTSW	11	58,110,384 (GRCm39)	missense	probably benign	0.00
R2145:Irgm2	UTSW	11	58,111,355 (GRCm39)	missense	possibly damaging	0.90
R2184:Irgm2	UTSW	11	58,111,254 (GRCm39)	missense	probably benign	0.01
R2327:Irgm2	UTSW	11	58,111,218 (GRCm39)	missense	probably damaging	1.00
R4041:Irgm2	UTSW	11	58,110,956 (GRCm39)	missense	probably benign	0.00
R4231:Irgm2	UTSW	11	58,110,304 (GRCm39)	start gained	probably benign
R5988:Irgm2	UTSW	11	58,111,013 (GRCm39)	missense	probably benign	0.39
R6143:Irgm2	UTSW	11	58,111,435 (GRCm39)	missense	possibly damaging	0.55
R6528:Irgm2	UTSW	11	58,110,878 (GRCm39)	missense	probably benign	0.10
R6851:Irgm2	UTSW	11	58,110,641 (GRCm39)	missense	possibly damaging	0.95
R7351:Irgm2	UTSW	11	58,110,431 (GRCm39)	missense	possibly damaging	0.93
R7434:Irgm2	UTSW	11	58,110,291 (GRCm39)	missense	probably benign	0.01
R8951:Irgm2	UTSW	11	58,110,408 (GRCm39)	missense	possibly damaging	0.83
R9163:Irgm2	UTSW	11	58,111,280 (GRCm39)	missense	probably damaging	1.00
R9664:Irgm2	UTSW	11	58,110,872 (GRCm39)	missense	possibly damaging	0.63
Z1186:Irgm2	UTSW	11	58,111,238 (GRCm39)	missense	possibly damaging	0.80
Z1186:Irgm2	UTSW	11	58,110,951 (GRCm39)	missense	probably benign	0.00
Z1186:Irgm2	UTSW	11	58,110,924 (GRCm39)	missense	probably benign	0.00
Z1186:Irgm2	UTSW	11	58,110,833 (GRCm39)	missense	probably benign	0.44
Z1186:Irgm2	UTSW	11	58,110,780 (GRCm39)	missense	probably benign	0.01
Z1186:Irgm2	UTSW	11	58,110,738 (GRCm39)	missense	probably benign	0.01
Z1186:Irgm2	UTSW	11	58,110,389 (GRCm39)	missense	probably benign	0.03
Z1186:Irgm2	UTSW	11	58,110,339 (GRCm39)	missense	probably benign
Z1186:Irgm2	UTSW	11	58,111,389 (GRCm39)	missense	probably benign	0.01
Z1187:Irgm2	UTSW	11	58,111,389 (GRCm39)	missense	probably benign	0.01
Z1187:Irgm2	UTSW	11	58,110,339 (GRCm39)	missense	probably benign
Z1187:Irgm2	UTSW	11	58,110,389 (GRCm39)	missense	probably benign	0.03
Z1187:Irgm2	UTSW	11	58,110,738 (GRCm39)	missense	probably benign	0.01
Z1187:Irgm2	UTSW	11	58,110,780 (GRCm39)	missense	probably benign	0.01
Z1187:Irgm2	UTSW	11	58,110,833 (GRCm39)	missense	probably benign	0.44
Z1187:Irgm2	UTSW	11	58,110,924 (GRCm39)	missense	probably benign	0.00
Z1187:Irgm2	UTSW	11	58,110,951 (GRCm39)	missense	probably benign	0.00
Z1187:Irgm2	UTSW	11	58,111,238 (GRCm39)	missense	possibly damaging	0.80
Z1188:Irgm2	UTSW	11	58,111,238 (GRCm39)	missense	possibly damaging	0.80
Z1188:Irgm2	UTSW	11	58,110,951 (GRCm39)	missense	probably benign	0.00
Z1188:Irgm2	UTSW	11	58,110,924 (GRCm39)	missense	probably benign	0.00
Z1188:Irgm2	UTSW	11	58,110,833 (GRCm39)	missense	probably benign	0.44
Z1188:Irgm2	UTSW	11	58,110,780 (GRCm39)	missense	probably benign	0.01
Z1188:Irgm2	UTSW	11	58,110,738 (GRCm39)	missense	probably benign	0.01
Z1188:Irgm2	UTSW	11	58,110,389 (GRCm39)	missense	probably benign	0.03
Z1188:Irgm2	UTSW	11	58,110,339 (GRCm39)	missense	probably benign
Z1188:Irgm2	UTSW	11	58,111,389 (GRCm39)	missense	probably benign	0.01
Z1189:Irgm2	UTSW	11	58,111,238 (GRCm39)	missense	possibly damaging	0.80
Z1189:Irgm2	UTSW	11	58,110,951 (GRCm39)	missense	probably benign	0.00
Z1189:Irgm2	UTSW	11	58,110,924 (GRCm39)	missense	probably benign	0.00
Z1189:Irgm2	UTSW	11	58,110,833 (GRCm39)	missense	probably benign	0.44
Z1189:Irgm2	UTSW	11	58,110,780 (GRCm39)	missense	probably benign	0.01
Z1189:Irgm2	UTSW	11	58,110,738 (GRCm39)	missense	probably benign	0.01
Z1189:Irgm2	UTSW	11	58,110,389 (GRCm39)	missense	probably benign	0.03
Z1189:Irgm2	UTSW	11	58,110,339 (GRCm39)	missense	probably benign
Z1189:Irgm2	UTSW	11	58,111,389 (GRCm39)	missense	probably benign	0.01
Z1190:Irgm2	UTSW	11	58,111,389 (GRCm39)	missense	probably benign	0.01
Z1190:Irgm2	UTSW	11	58,110,339 (GRCm39)	missense	probably benign
Z1190:Irgm2	UTSW	11	58,110,389 (GRCm39)	missense	probably benign	0.03
Z1190:Irgm2	UTSW	11	58,110,738 (GRCm39)	missense	probably benign	0.01
Z1190:Irgm2	UTSW	11	58,110,780 (GRCm39)	missense	probably benign	0.01
Z1190:Irgm2	UTSW	11	58,110,833 (GRCm39)	missense	probably benign	0.44
Z1190:Irgm2	UTSW	11	58,110,924 (GRCm39)	missense	probably benign	0.00
Z1190:Irgm2	UTSW	11	58,110,951 (GRCm39)	missense	probably benign	0.00
Z1190:Irgm2	UTSW	11	58,111,238 (GRCm39)	missense	possibly damaging	0.80
Z1191:Irgm2	UTSW	11	58,111,238 (GRCm39)	missense	possibly damaging	0.80
Z1191:Irgm2	UTSW	11	58,110,951 (GRCm39)	missense	probably benign	0.00
Z1191:Irgm2	UTSW	11	58,110,924 (GRCm39)	missense	probably benign	0.00
Z1191:Irgm2	UTSW	11	58,110,833 (GRCm39)	missense	probably benign	0.44
Z1191:Irgm2	UTSW	11	58,110,780 (GRCm39)	missense	probably benign	0.01
Z1191:Irgm2	UTSW	11	58,110,738 (GRCm39)	missense	probably benign	0.01
Z1191:Irgm2	UTSW	11	58,110,389 (GRCm39)	missense	probably benign	0.03
Z1191:Irgm2	UTSW	11	58,110,339 (GRCm39)	missense	probably benign
Z1191:Irgm2	UTSW	11	58,111,389 (GRCm39)	missense	probably benign	0.01
Z1192:Irgm2	UTSW	11	58,111,238 (GRCm39)	missense	possibly damaging	0.80
Z1192:Irgm2	UTSW	11	58,110,951 (GRCm39)	missense	probably benign	0.00
Z1192:Irgm2	UTSW	11	58,110,924 (GRCm39)	missense	probably benign	0.00
Z1192:Irgm2	UTSW	11	58,110,833 (GRCm39)	missense	probably benign	0.44
Z1192:Irgm2	UTSW	11	58,110,780 (GRCm39)	missense	probably benign	0.01
Z1192:Irgm2	UTSW	11	58,110,738 (GRCm39)	missense	probably benign	0.01
Z1192:Irgm2	UTSW	11	58,110,389 (GRCm39)	missense	probably benign	0.03
Z1192:Irgm2	UTSW	11	58,110,339 (GRCm39)	missense	probably benign
Z1192:Irgm2	UTSW	11	58,111,389 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTTCCAAGAAAGTGCGCATG -3'
(R):5'- ACATGCCATTGCCAGAGTC -3'

Sequencing Primer
(F):5'- CATGCACAGGAGGGCTCAG -3'
(R):5'- ATTGCCAGAGTCCCCAGTC -3'

Posted On

2018-06-22