Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02451:Ifi47'

293659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ifi47

Ensembl Gene

ENSMUSG00000078920

Gene Name

interferon gamma inducible protein 47

Synonyms

IRG-47, Igrd, Iigp4, 47kDa

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

49076587-49096974 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49095777 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 124 (Y124H)

Ref Sequence

ENSEMBL: ENSMUSP00000149108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046704] [ENSMUST00000056759] [ENSMUST00000102785] [ENSMUST00000109202] [ENSMUST00000152914] [ENSMUST00000179282] [ENSMUST00000203149] [ENSMUST00000203810] [ENSMUST00000213728] [ENSMUST00000214804]

Predicted Effect

probably damaging
Transcript: ENSMUST00000046704
AA Change: Y124H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041975
Gene: ENSMUSG00000078920
AA Change: Y124H

Domain	Start	End	E-Value	Type
Pfam:IIGP	40	414	1.7e-177	PFAM
Pfam:MMR_HSR1	76	219	9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056759

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102785

SMART Domains

Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109202
AA Change: Y124H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104825
Gene: ENSMUSG00000078920
AA Change: Y124H

Domain	Start	End	E-Value	Type
Pfam:IIGP	40	414	3.1e-175	PFAM
Pfam:Miro	76	191	2.4e-6	PFAM
Pfam:MMR_HSR1	76	211	3.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152914

Predicted Effect

probably benign
Transcript: ENSMUST00000179282

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	276	3.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	3.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203149

SMART Domains

Protein: ENSMUSP00000145429
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	36	253	3.8e-7	PFAM
Pfam:7tm_1	42	291	2.5e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203412

Predicted Effect

probably benign
Transcript: ENSMUST00000203810

SMART Domains

Protein: ENSMUSP00000144951
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	36	253	3.8e-7	PFAM
Pfam:7tm_1	42	291	2.5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213728
AA Change: Y124H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214804
AA Change: Y124H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,563,547	T126P	probably damaging	Het
Asic2	T	C	11: 80,891,737		probably benign	Het
B430305J03Rik	A	G	3: 61,364,141		probably benign	Het
Bbs7	A	G	3: 36,610,592	F47L	possibly damaging	Het
BC017158	A	G	7: 128,276,410	L257P	probably damaging	Het
Bcl2l14	G	T	6: 134,423,841	G75V	probably benign	Het
Btnl4	T	C	17: 34,475,927	H4R	probably benign	Het
Champ1	C	A	8: 13,878,739	P299Q	probably damaging	Het
Cldnd2	A	G	7: 43,441,658	K5E	probably benign	Het
Ctr9	T	A	7: 111,043,424	L401*	probably null	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,101,424	L298H	probably damaging	Het
Git1	T	C	11: 77,500,687	C222R	possibly damaging	Het
Gpam	T	C	19: 55,088,203	T189A	probably damaging	Het
Hgfac	T	G	5: 35,043,814		probably null	Het
Hivep3	T	A	4: 120,133,965	S2221T	probably damaging	Het
Il1a	T	C	2: 129,306,655	E45G	probably damaging	Het
Itga11	T	A	9: 62,735,353	I186N	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Mapk13	A	G	17: 28,776,413	T203A	probably damaging	Het
Mrpl37	T	A	4: 107,066,642	I52F	probably damaging	Het
Nr1i2	A	G	16: 38,249,292	F417L	probably benign	Het
Olfr1129	T	A	2: 87,575,232	S49R	probably benign	Het
Olfr811	G	A	10: 129,801,833	Q231*	probably null	Het
Osbpl1a	T	C	18: 12,914,493		probably benign	Het
Parg	C	T	14: 32,242,229	T112M	probably damaging	Het
Pifo	T	A	3: 106,014,504	E34D	probably benign	Het
Pou6f1	T	C	15: 100,579,940	T166A	possibly damaging	Het
Prtg	A	G	9: 72,856,999	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,776,775		probably benign	Het
Rab6a	T	C	7: 100,636,763		probably null	Het
Rnf207	C	T	4: 152,312,412	R425H	probably benign	Het
Skiv2l2	C	T	13: 112,891,347	V660M	probably damaging	Het
Slc27a2	A	G	2: 126,578,992	M468V	probably benign	Het
Slc30a1	A	G	1: 191,907,329	H108R	possibly damaging	Het
Sned1	A	G	1: 93,236,208		probably benign	Het
Sptbn4	A	T	7: 27,365,589	F2095Y	probably null	Het
Sspo	A	T	6: 48,460,303		probably benign	Het
Tbx19	A	G	1: 165,140,171	S336P	probably benign	Het
Tmem101	T	A	11: 102,153,293	D256V	probably damaging	Het
Trbv20	T	G	6: 41,188,276	L2V	unknown	Het
Trpc7	A	G	13: 56,822,461	S382P	probably damaging	Het
Uhmk1	T	C	1: 170,212,526	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 108,995,922	R721*	probably null	Het
Vmn2r94	T	A	17: 18,258,191	Y98F	possibly damaging	Het
Zcchc11	C	A	4: 108,529,276	Y1114*	probably null	Het
Zfp532	A	G	18: 65,623,601	R202G	probably damaging	Het
Zfp827	T	C	8: 79,060,972	S256P	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in Ifi47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Ifi47	APN	11	49095414	nonsense	probably null
IGL00811:Ifi47	APN	11	49095417	missense	probably benign	0.00
IGL02468:Ifi47	APN	11	49095983	missense	probably damaging	0.98
IGL02902:Ifi47	APN	11	49095790	missense	probably benign	0.00
IGL03260:Ifi47	APN	11	49096105	missense	probably damaging	0.99
R0111:Ifi47	UTSW	11	49096070	missense	probably damaging	1.00
R0636:Ifi47	UTSW	11	49096651	missense	possibly damaging	0.85
R1548:Ifi47	UTSW	11	49095871	missense	probably damaging	1.00
R2255:Ifi47	UTSW	11	49096647	missense	probably benign	0.02
R3703:Ifi47	UTSW	11	49095525	missense	probably benign	0.01
R5071:Ifi47	UTSW	11	49095534	missense	probably benign	0.01
R5073:Ifi47	UTSW	11	49095534	missense	probably benign	0.01
R5074:Ifi47	UTSW	11	49095534	missense	probably benign	0.01
R5262:Ifi47	UTSW	11	49095732	missense	probably benign	0.00
R5902:Ifi47	UTSW	11	49095386	splice site	probably null
R6745:Ifi47	UTSW	11	49095502	missense	probably benign	0.38
R7155:Ifi47	UTSW	11	49096542	missense	probably benign	0.39
R7535:Ifi47	UTSW	11	49096625	missense	probably damaging	1.00
R8330:Ifi47	UTSW	11	49095810	missense	possibly damaging	0.55
R8412:Ifi47	UTSW	11	49095598	missense	probably damaging	0.98
Z1177:Ifi47	UTSW	11	49096275	nonsense	probably null

Posted On

2015-04-16