Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02043:Irgm1'

184826

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irgm1

Ensembl Gene

ENSMUSG00000046879

Gene Name

immunity-related GTPase family M member 1

Synonyms

Iigp3, Irgm, Ifi1, LRG-47

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02043

Quality Score

Status

Chromosome

Chromosomal Location

48756072-48762247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48757642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 56 (L56F)

Ref Sequence

ENSEMBL: ENSMUSP00000094870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049519] [ENSMUST00000097271]

AlphaFold

Q60766

Predicted Effect

probably damaging
Transcript: ENSMUST00000049519
AA Change: L72F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050446
Gene: ENSMUSG00000046879
AA Change: L72F

Domain	Start	End	E-Value	Type
Pfam:IIGP	42	399	5.5e-169	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097271
AA Change: L56F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094870
Gene: ENSMUSG00000046879
AA Change: L56F

Domain	Start	End	E-Value	Type
Pfam:IIGP	26	288	2.5e-131	PFAM
Pfam:MMR_HSR1	62	175	2.8e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147151

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: In the absence of infection, mice show no overt phenotype. Resistance to protozoan parasitic infection and bacterial infection is impaired in homozygous mutant mice, whereas resistance to viral infection is normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1b2	T	C	11: 69,496,102 (GRCm39)	T33A	probably benign	Het
Brd2	A	T	17: 34,331,590 (GRCm39)		probably benign	Het
Carmil1	T	C	13: 24,208,299 (GRCm39)		probably benign	Het
Cdh9	A	T	15: 16,856,318 (GRCm39)	D786V	probably damaging	Het
Cep128	A	C	12: 91,233,504 (GRCm39)		probably benign	Het
Cep85	T	C	4: 133,883,038 (GRCm39)	T284A	probably benign	Het
Chrna1	C	T	2: 73,398,450 (GRCm39)	E330K	probably benign	Het
Clec2l	T	C	6: 38,653,785 (GRCm39)	Y104H	probably damaging	Het
Clybl	G	T	14: 122,616,664 (GRCm39)	K226N	probably damaging	Het
Cmip	T	A	8: 118,172,067 (GRCm39)	D467E	probably benign	Het
Cpne3	A	T	4: 19,543,340 (GRCm39)		probably null	Het
Crisp4	A	G	1: 18,204,324 (GRCm39)	V46A	probably damaging	Het
Csnk2a1	T	C	2: 152,116,070 (GRCm39)	Y261H	probably damaging	Het
Cul5	C	A	9: 53,569,973 (GRCm39)	G86V	probably benign	Het
Czib	T	G	4: 107,752,065 (GRCm39)		probably benign	Het
Depdc7	T	C	2: 104,560,626 (GRCm39)	T123A	probably benign	Het
Edem2	T	C	2: 155,547,661 (GRCm39)	T384A	probably damaging	Het
F8	C	T	X: 74,376,247 (GRCm39)	M377I	probably benign	Het
Fan1	T	A	7: 64,021,367 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Gm4841	A	C	18: 60,404,037 (GRCm39)	S19A	probably benign	Het
Gm4862	T	A	3: 138,834,396 (GRCm39)		noncoding transcript	Het
Hk3	T	A	13: 55,162,908 (GRCm39)	Q44L	probably damaging	Het
Ldlr	A	G	9: 21,644,795 (GRCm39)	T108A	probably benign	Het
Lgr4	T	A	2: 109,841,635 (GRCm39)	M516K	probably damaging	Het
Lrp1b	T	C	2: 40,587,537 (GRCm39)	N3906S	probably null	Het
Lrrtm4	A	G	6: 79,998,845 (GRCm39)	N86D	possibly damaging	Het
Map3k2	A	G	18: 32,340,587 (GRCm39)	D198G	probably damaging	Het
Mapkapk3	C	T	9: 107,139,621 (GRCm39)		probably null	Het
Mvp	A	T	7: 126,592,790 (GRCm39)	Y374N	probably damaging	Het
Myo3a	T	C	2: 22,404,776 (GRCm39)	S711P	probably benign	Het
Myom3	A	G	4: 135,497,986 (GRCm39)	K189E	probably damaging	Het
Naip1	T	A	13: 100,563,304 (GRCm39)	K620N	probably benign	Het
Nlrp10	T	C	7: 108,524,709 (GRCm39)	E257G	probably damaging	Het
Nptn	T	G	9: 58,548,012 (GRCm39)	M139R	possibly damaging	Het
Nrk	T	G	X: 137,889,544 (GRCm39)	M1105R	possibly damaging	Het
Or10a3n	A	T	7: 108,493,046 (GRCm39)	C189*	probably null	Het
Or10d4	T	G	9: 39,580,374 (GRCm39)	V7G	probably damaging	Het
Or1q1	T	A	2: 36,887,477 (GRCm39)	Y218*	probably null	Het
Pcdhb16	A	G	18: 37,612,248 (GRCm39)	T403A	probably benign	Het
Pcyt1b	A	G	X: 92,745,722 (GRCm39)	E50G	possibly damaging	Het
Pigg	C	T	5: 108,492,190 (GRCm39)	T892I	probably damaging	Het
Ppig	T	G	2: 69,566,327 (GRCm39)		probably null	Het
Prr12	A	G	7: 44,699,429 (GRCm39)		probably benign	Het
Slc5a5	G	T	8: 71,345,073 (GRCm39)	A78E	possibly damaging	Het
Slc7a2	T	G	8: 41,364,095 (GRCm39)	M436R	probably benign	Het
Sp7	T	A	15: 102,267,690 (GRCm39)	M39L	probably benign	Het
Spag8	T	A	4: 43,653,134 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,068,556 (GRCm39)	S3077P	probably benign	Het
Tmem30a	A	T	9: 79,681,371 (GRCm39)		probably benign	Het
Tmem63a	C	T	1: 180,800,353 (GRCm39)	T714I	probably benign	Het
Trank1	T	C	9: 111,193,028 (GRCm39)	L535P	probably damaging	Het
Tuba8	A	C	6: 121,197,470 (GRCm39)	N44T	probably benign	Het
Wnk1	A	G	6: 119,926,039 (GRCm39)		probably benign	Het
Zfp654	A	T	16: 64,605,391 (GRCm39)	I396K	probably benign	Het

Other mutations in Irgm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Irgm1	APN	11	48,756,832 (GRCm39)	nonsense	probably null
IGL01821:Irgm1	APN	11	48,757,353 (GRCm39)	missense	probably damaging	1.00
IGL02252:Irgm1	APN	11	48,756,981 (GRCm39)	missense	possibly damaging	0.92
IGL03153:Irgm1	APN	11	48,757,094 (GRCm39)	missense	probably damaging	1.00
igraine	UTSW	11	48,757,440 (GRCm39)	missense	probably benign	0.33
R0487:Irgm1	UTSW	11	48,757,154 (GRCm39)	missense	probably damaging	0.98
R1808:Irgm1	UTSW	11	48,757,259 (GRCm39)	missense	probably damaging	0.99
R1809:Irgm1	UTSW	11	48,757,440 (GRCm39)	missense	probably benign	0.33
R1878:Irgm1	UTSW	11	48,756,897 (GRCm39)	missense	probably benign	0.07
R2971:Irgm1	UTSW	11	48,757,417 (GRCm39)	nonsense	probably null
R4492:Irgm1	UTSW	11	48,756,955 (GRCm39)	synonymous	silent
R4962:Irgm1	UTSW	11	48,757,159 (GRCm39)	missense	possibly damaging	0.93
R5186:Irgm1	UTSW	11	48,757,044 (GRCm39)	missense	probably benign	0.00
R5794:Irgm1	UTSW	11	48,757,064 (GRCm39)	missense	probably damaging	0.99
R6224:Irgm1	UTSW	11	48,757,713 (GRCm39)	missense	probably benign	0.02
R6487:Irgm1	UTSW	11	48,756,777 (GRCm39)	missense	probably benign	0.21
R6752:Irgm1	UTSW	11	48,757,290 (GRCm39)	missense	probably damaging	1.00
R6766:Irgm1	UTSW	11	48,756,928 (GRCm39)	missense	possibly damaging	0.80
R8005:Irgm1	UTSW	11	48,757,217 (GRCm39)	missense	probably damaging	1.00
R8418:Irgm1	UTSW	11	48,757,166 (GRCm39)	missense	probably damaging	0.97
R8924:Irgm1	UTSW	11	48,756,698 (GRCm39)	missense	probably benign	0.35
R8947:Irgm1	UTSW	11	48,759,575 (GRCm39)	intron	probably benign

Posted On

2014-05-07