Mutagenetix > Incidental Mutation

Incidental Mutation 'R1621:Irgm2'

174669

Institutional Source

Beutler Lab

Gene Symbol

Irgm2

Ensembl Gene

ENSMUSG00000069874

Gene Name

immunity-related GTPase family M member 2

Synonyms

Iigp2, Gtpi

MMRRC Submission

039658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1621 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58105803-58113609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58111364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 364 (F364L)

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: F352L

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

SMART Domains

Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: F352L

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: F352L

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

SMART Domains

Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: F352L

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: F364L

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

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.0%
20x: 84.5%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,564,041 (GRCm39)	N253S	probably benign	Het
Adamts3	G	A	5: 89,869,560 (GRCm39)	H272Y	probably damaging	Het
Arpc5l	T	C	2: 38,903,913 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,977,245 (GRCm39)	V4333I	probably benign	Het
Cd38	A	G	5: 44,058,866 (GRCm39)	D160G	probably benign	Het
Cdc7	A	G	5: 107,112,920 (GRCm39)	S13G	probably benign	Het
Chrm5	G	T	2: 112,310,182 (GRCm39)	D311E	probably benign	Het
Ctns	A	G	11: 73,079,298 (GRCm39)	V140A	possibly damaging	Het
Ets2	A	G	16: 95,510,913 (GRCm39)	D57G	probably damaging	Het
Fbxo36	T	A	1: 84,817,595 (GRCm39)	M1K	probably null	Het
Fhod3	T	A	18: 25,155,924 (GRCm39)	I514K	probably benign	Het
G3bp2	A	T	5: 92,204,137 (GRCm39)	F350I	probably damaging	Het
Hs3st3a1	G	T	11: 64,327,049 (GRCm39)	V53F	probably benign	Het
Ippk	T	C	13: 49,615,044 (GRCm39)	S427P	probably benign	Het
Lipn	A	G	19: 34,046,113 (GRCm39)	K29E	probably benign	Het
Map3k11	A	G	19: 5,740,834 (GRCm39)	E187G	probably damaging	Het
Nrxn3	A	G	12: 88,762,480 (GRCm39)	M176V	probably benign	Het
Or2z9	A	G	8: 72,853,973 (GRCm39)	Y123C	probably damaging	Het
Palm3	G	A	8: 84,756,651 (GRCm39)	S721N	possibly damaging	Het
Plxnb1	A	G	9: 108,935,873 (GRCm39)	I1088V	probably benign	Het
Pmfbp1	A	G	8: 110,226,170 (GRCm39)	H69R	probably benign	Het
Pou2af1	C	T	9: 51,144,160 (GRCm39)	H54Y	probably damaging	Het
Prl6a1	C	T	13: 27,501,993 (GRCm39)	T120I	probably benign	Het
Psen2	A	T	1: 180,057,030 (GRCm39)	F331L	probably benign	Het
Pygl	T	C	12: 70,237,866 (GRCm39)	D724G	probably damaging	Het
Slc25a48	T	A	13: 56,618,283 (GRCm39)	*307R	probably null	Het
Slc39a6	T	C	18: 24,733,946 (GRCm39)	K248E	probably benign	Het
Slco4a1	A	T	2: 180,112,925 (GRCm39)	T386S	probably benign	Het
Snx7	T	C	3: 117,630,805 (GRCm39)	I185V	possibly damaging	Het
Tmem94	A	G	11: 115,676,671 (GRCm39)	S59G	probably benign	Het
Top3a	A	T	11: 60,641,433 (GRCm39)	I392N	probably damaging	Het
Utp20	A	G	10: 88,598,733 (GRCm39)	I81T	probably benign	Het
Utrn	A	G	10: 12,589,027 (GRCm39)	L893S	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
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

Predicted Primers

PCR Primer
(F):5'- CCTCGTCGAAACCCTTTACCAAGTC -3'
(R):5'- AGTCGGCCTAGTAACCTCAAGGAAC -3'

Sequencing Primer
(F):5'- GATAACCTACACACAGAGTTTGG -3'
(R):5'- GTTATCTCAACTGGGGGTACAC -3'

Posted On

2014-04-24