Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02378:Irgc'

291243

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irgc

Ensembl Gene

ENSMUSG00000062028

Gene Name

immunity related GTPase cinema

Synonyms

Iigp5, LOC381989, Irgc1, F630044M05Rik, LOC210145

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL02378

Quality Score

Status

Chromosome

Chromosomal Location

24131344-24145107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24131500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 439 (T439I)

Ref Sequence

ENSEMBL: ENSMUSP00000145975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080594] [ENSMUST00000205385] [ENSMUST00000205776]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080594
AA Change: T439I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104072
Gene: ENSMUSG00000062028
AA Change: T439I

Domain	Start	End	E-Value	Type
Pfam:IIGP	18	400	3.7e-99	PFAM
Pfam:MMR_HSR1	54	167	2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205385

Predicted Effect

probably benign
Transcript: ENSMUST00000205776
AA Change: T439I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,080,424 (GRCm39)	T414I	probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acer2	A	T	4: 86,804,491 (GRCm39)	T69S	probably benign	Het
Adcy2	A	G	13: 68,878,411 (GRCm39)	V409A	probably damaging	Het
Anks3	T	A	16: 4,768,626 (GRCm39)	Y239F	possibly damaging	Het
Arhgap42	G	A	9: 9,035,584 (GRCm39)	H253Y	possibly damaging	Het
Asb18	A	T	1: 89,920,710 (GRCm39)	L189Q	probably damaging	Het
C3	T	C	17: 57,519,698 (GRCm39)	R1185G	probably benign	Het
Cdca7l	T	A	12: 117,835,862 (GRCm39)	V66E	possibly damaging	Het
Cdrt4	G	T	11: 62,883,534 (GRCm39)	E79*	probably null	Het
Cep57	A	C	9: 13,732,842 (GRCm39)	Y34*	probably null	Het
Cep63	A	T	9: 102,473,314 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,144,721 (GRCm39)	I516K	possibly damaging	Het
Dnah10	A	G	5: 124,850,131 (GRCm39)	E1551G	probably damaging	Het
Dysf	T	C	6: 84,088,887 (GRCm39)	I843T	probably damaging	Het
Gabra1	C	A	11: 42,031,082 (GRCm39)	V283F	probably damaging	Het
Hcfc2	T	C	10: 82,544,905 (GRCm39)	I179T	possibly damaging	Het
Htr2c	G	A	X: 145,976,755 (GRCm39)		probably benign	Het
Itgae	T	A	11: 73,008,947 (GRCm39)	L476H	probably benign	Het
Jarid2	A	C	13: 45,067,801 (GRCm39)	K1070T	probably damaging	Het
Lama2	A	G	10: 26,919,652 (GRCm39)	I2193T	probably damaging	Het
Med19	A	G	2: 84,515,625 (GRCm39)	E103G	probably damaging	Het
Nav1	C	T	1: 135,397,716 (GRCm39)	D818N	probably benign	Het
Nom1	G	T	5: 29,656,124 (GRCm39)	E830*	probably null	Het
Or10g9b	T	G	9: 39,917,769 (GRCm39)	T159P	probably damaging	Het
Or5b98	A	C	19: 12,931,747 (GRCm39)	S265R	probably benign	Het
Orai3	G	T	7: 127,369,333 (GRCm39)	R58L	probably damaging	Het
Osbpl8	T	A	10: 111,118,006 (GRCm39)	M583K	possibly damaging	Het
Pik3cb	A	T	9: 98,944,893 (GRCm39)	M624K	probably benign	Het
Rars2	G	A	4: 34,656,199 (GRCm39)	R451H	possibly damaging	Het
Rgs22	A	G	15: 36,103,951 (GRCm39)	L170P	probably benign	Het
Rps6kl1	C	A	12: 85,185,448 (GRCm39)	D417Y	probably damaging	Het
Senp6	A	G	9: 80,033,674 (GRCm39)	D106G	probably damaging	Het
Setx	C	T	2: 29,063,738 (GRCm39)		probably benign	Het
Sfswap	T	A	5: 129,616,668 (GRCm39)	Y371N	probably damaging	Het
Slc24a3	C	T	2: 145,360,322 (GRCm39)	R141C	possibly damaging	Het
Sorcs1	C	T	19: 50,171,109 (GRCm39)	W926*	probably null	Het
Steap4	A	G	5: 8,026,741 (GRCm39)	T235A	probably benign	Het
Tead2	T	A	7: 44,867,571 (GRCm39)		probably null	Het
Tll1	A	T	8: 64,470,660 (GRCm39)	L921*	probably null	Het
Tnfrsf19	T	A	14: 61,208,451 (GRCm39)	T357S	probably benign	Het
Tnik	C	A	3: 28,692,608 (GRCm39)	S825*	probably null	Het
Vil1	T	A	1: 74,469,850 (GRCm39)		probably null	Het
Vmn2r106	T	C	17: 20,497,791 (GRCm39)	K483E	probably damaging	Het
Vwa5a	G	A	9: 38,645,266 (GRCm39)	M450I	probably benign	Het
Xirp2	C	T	2: 67,344,112 (GRCm39)	P2118S	probably benign	Het

Other mutations in Irgc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02571:Irgc	APN	7	24,132,016 (GRCm39)	missense	probably damaging	1.00
IGL03173:Irgc	APN	7	24,132,727 (GRCm39)	missense	probably damaging	1.00
R0200:Irgc	UTSW	7	24,131,431 (GRCm39)	missense	probably benign
R0234:Irgc	UTSW	7	24,132,753 (GRCm39)	missense	possibly damaging	0.71
R0234:Irgc	UTSW	7	24,132,753 (GRCm39)	missense	possibly damaging	0.71
R0318:Irgc	UTSW	7	24,131,896 (GRCm39)	missense	probably benign	0.27
R4651:Irgc	UTSW	7	24,132,238 (GRCm39)	missense	probably damaging	1.00
R4652:Irgc	UTSW	7	24,132,238 (GRCm39)	missense	probably damaging	1.00
R5072:Irgc	UTSW	7	24,132,196 (GRCm39)	missense	probably benign
R5366:Irgc	UTSW	7	24,132,851 (GRCm39)	start gained	probably benign
R7424:Irgc	UTSW	7	24,131,653 (GRCm39)	missense	probably damaging	0.98
R7801:Irgc	UTSW	7	24,131,959 (GRCm39)	missense	probably damaging	1.00
R8263:Irgc	UTSW	7	24,132,107 (GRCm39)	missense	probably damaging	1.00
R8967:Irgc	UTSW	7	24,132,737 (GRCm39)	missense	probably benign
R9365:Irgc	UTSW	7	24,131,872 (GRCm39)	missense	possibly damaging	0.93
R9491:Irgc	UTSW	7	24,132,349 (GRCm39)	missense	probably benign	0.21
Z1177:Irgc	UTSW	7	24,132,380 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16