Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02730:Irgm2'

305406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irgm2

Ensembl Gene

ENSMUSG00000069874

Gene Name

immunity-related GTPase family M member 2

Synonyms

Iigp2, Gtpi

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02730

Quality Score

Status

Chromosome

Chromosomal Location

58105803-58113609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58110816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 169 (M169K)

Ref Sequence

ENSEMBL: ENSMUSP00000104464 (fasta)

Gene Model

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

AlphaFold

A0A140LIF8

Predicted Effect

probably benign
Transcript: ENSMUST00000058704
AA Change: M169K

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: M169K

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: M169K

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: M169K

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: M181K

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	A	5: 114,304,210 (GRCm39)		probably benign	Het
Ankib1	A	T	5: 3,752,995 (GRCm39)	V651E	probably damaging	Het
BC051665	G	A	13: 60,932,826 (GRCm39)		probably benign	Het
Ces1d	C	T	8: 93,912,644 (GRCm39)	G265S	probably benign	Het
Dsg1c	A	C	18: 20,407,887 (GRCm39)	D411A	probably damaging	Het
Exosc5	T	C	7: 25,362,622 (GRCm39)	I70T	possibly damaging	Het
Fgf20	T	A	8: 40,732,828 (GRCm39)	L203F	probably damaging	Het
Gpsm1	T	A	2: 26,215,390 (GRCm39)	V316E	probably benign	Het
Gtpbp1	T	A	15: 79,603,372 (GRCm39)	D620E	probably benign	Het
Hs6st1	A	G	1: 36,142,709 (GRCm39)	T215A	probably damaging	Het
Kcns3	A	G	12: 11,142,076 (GRCm39)	S208P	probably benign	Het
Klra6	T	C	6: 129,999,660 (GRCm39)	T103A	probably benign	Het
Lrba	T	A	3: 86,235,506 (GRCm39)	M870K	probably damaging	Het
Mapk1ip1l	C	T	14: 47,548,377 (GRCm39)	T175I	possibly damaging	Het
Meig1	A	G	2: 3,412,947 (GRCm39)	Y25H	probably damaging	Het
Msh2	T	C	17: 88,014,643 (GRCm39)	F474L	probably damaging	Het
Nlrp4b	T	C	7: 10,448,685 (GRCm39)	F296S	probably damaging	Het
Or10d1b	C	T	9: 39,613,534 (GRCm39)	C177Y	probably damaging	Het
Or12d17	T	A	17: 37,777,750 (GRCm39)	Y218N	probably damaging	Het
Or14c40	T	C	7: 86,313,275 (GRCm39)	L135P	probably damaging	Het
Or2m12	T	A	16: 19,105,432 (GRCm39)	L20F	probably benign	Het
Or5al6	C	T	2: 85,976,443 (GRCm39)	V212M	probably benign	Het
Or5w15	T	A	2: 87,567,985 (GRCm39)	I228F	probably damaging	Het
Or6z3	T	C	7: 6,464,123 (GRCm39)	I205T	possibly damaging	Het
Or8s8	A	G	15: 98,354,317 (GRCm39)	N42S	probably damaging	Het
Pds5b	A	G	5: 150,704,217 (GRCm39)		probably benign	Het
Plekhg1	A	G	10: 3,823,242 (GRCm39)	D70G	possibly damaging	Het
Rubcnl	C	T	14: 75,287,588 (GRCm39)	T624M	probably damaging	Het
Runx1t1	C	T	4: 13,860,019 (GRCm39)	H317Y	probably benign	Het
Sec22a	T	C	16: 35,134,470 (GRCm39)	D282G	probably damaging	Het
Serpina3a	T	C	12: 104,085,922 (GRCm39)	F126L	probably damaging	Het
Serpinc1	A	G	1: 160,827,598 (GRCm39)	D399G	probably damaging	Het
Sorcs2	A	G	5: 36,219,896 (GRCm39)	Y383H	probably benign	Het
Speer3	T	A	5: 13,843,285 (GRCm39)	M64K	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stx1b	C	A	7: 127,414,549 (GRCm39)	R25L	probably benign	Het
Syt5	A	G	7: 4,545,356 (GRCm39)	V181A	probably damaging	Het
Tspoap1	G	T	11: 87,672,535 (GRCm39)	V1788F	probably damaging	Het
Vinac1	T	C	2: 128,880,646 (GRCm39)	T427A	possibly damaging	Het
Vmn1r233	A	G	17: 21,214,057 (GRCm39)	S298P	possibly damaging	Het
Xntrpc	T	C	7: 101,731,319 (GRCm39)	S353P	probably damaging	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
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
R6508:Irgm2	UTSW	11	58,110,327 (GRCm39)	missense	probably benign
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

Posted On

2015-04-16