Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02708:Irgm2'

304438

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 #

IGL02708

Quality Score

Status

Chromosome

Chromosomal Location

58105803-58113609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58111350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 347 (V347A)

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: V347A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: V347A

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: V347A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: V347A

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: V359A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,738,213 (GRCm39)	V1104D	probably damaging	Het
Adgrl2	A	T	3: 148,532,161 (GRCm39)	V1024E	probably damaging	Het
Agbl2	A	G	2: 90,631,686 (GRCm39)	H348R	probably benign	Het
Aifm2	T	C	10: 61,574,354 (GRCm39)		probably benign	Het
Ankrd26	T	C	6: 118,495,379 (GRCm39)		probably benign	Het
Avpr1b	A	G	1: 131,528,389 (GRCm39)	D304G	probably damaging	Het
Duox1	A	G	2: 122,156,498 (GRCm39)	D475G	possibly damaging	Het
E2f8	T	C	7: 48,516,982 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,173,211 (GRCm39)	I2501F	probably damaging	Het
Gm4181	A	G	14: 51,870,689 (GRCm39)	C91R	probably benign	Het
Gm5424	T	A	10: 61,907,390 (GRCm39)		noncoding transcript	Het
Gnai3	A	G	3: 108,025,660 (GRCm39)	F140L	probably benign	Het
Htra1	A	T	7: 130,563,765 (GRCm39)	D212V	probably damaging	Het
Itch	A	G	2: 155,015,964 (GRCm39)	T150A	probably benign	Het
Itgb3	A	C	11: 104,528,655 (GRCm39)	I261L	possibly damaging	Het
Kalrn	C	T	16: 34,212,420 (GRCm39)	V31M	probably damaging	Het
Klra7	C	T	6: 130,203,463 (GRCm39)	C181Y	probably damaging	Het
Klrb1	A	G	6: 128,690,548 (GRCm39)	L58S	probably benign	Het
Kndc1	A	G	7: 139,481,097 (GRCm39)	E61G	probably damaging	Het
Krt78	T	A	15: 101,861,842 (GRCm39)	T135S	possibly damaging	Het
Mpdz	A	G	4: 81,202,808 (GRCm39)		probably null	Het
Mphosph6	A	G	8: 118,519,525 (GRCm39)		probably benign	Het
Myo19	T	C	11: 84,790,222 (GRCm39)	S393P	possibly damaging	Het
Or51a5	A	G	7: 102,771,027 (GRCm39)		probably benign	Het
Or8g53	T	C	9: 39,683,214 (GRCm39)	N294S	probably damaging	Het
Pkdrej	T	C	15: 85,704,988 (GRCm39)	Y316C	probably damaging	Het
Pkp3	A	T	7: 140,669,681 (GRCm39)		probably benign	Het
Pramel31	T	A	4: 144,089,983 (GRCm39)	L341H	probably damaging	Het
Psmb8	A	G	17: 34,420,217 (GRCm39)	K270E	probably benign	Het
Ptprq	T	C	10: 107,488,561 (GRCm39)	N959D	probably damaging	Het
Rab6b	T	G	9: 103,038,074 (GRCm39)		probably null	Het
Rhobtb3	T	C	13: 76,065,843 (GRCm39)	D180G	probably damaging	Het
Sccpdh	G	A	1: 179,508,074 (GRCm39)	C238Y	probably benign	Het
Srm	C	T	4: 148,677,803 (GRCm39)	S147L	probably benign	Het
Synj1	A	T	16: 90,788,350 (GRCm39)	S173T	probably damaging	Het
Tas1r1	T	C	4: 152,112,797 (GRCm39)	E752G	possibly damaging	Het
Tmem151a	G	T	19: 5,132,875 (GRCm39)	Y110*	probably null	Het
Ttn	A	G	2: 76,556,957 (GRCm39)	V30016A	probably damaging	Het
Txnrd2	A	G	16: 18,287,590 (GRCm39)	E331G	probably benign	Het
Vldlr	T	C	19: 27,215,485 (GRCm39)	C161R	possibly damaging	Het
Vmn1r91	T	A	7: 19,835,415 (GRCm39)	S111R	probably damaging	Het
Vmn2r66	T	A	7: 84,655,796 (GRCm39)	I407F	probably benign	Het
Vps13d	T	C	4: 144,854,850 (GRCm39)	M2258V	probably benign	Het
Ypel1	A	T	16: 16,923,872 (GRCm39)	V59D	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
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
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