Mutagenetix > Incidental Mutation

Incidental Mutation 'R9076:Ifi47'

689806

Institutional Source

Beutler Lab

Gene Symbol

Ifi47

Ensembl Gene

ENSMUSG00000078920

Gene Name

interferon gamma inducible protein 47

Synonyms

IRG-47, Igrd, Iigp4, 47kDa

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R9076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49076587-49096974 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 49096015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 203 (I203R)

Ref Sequence

ENSEMBL: ENSMUSP00000041975 (fasta)

Gene Model

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

AlphaFold

Q61635

Predicted Effect

probably benign
Transcript: ENSMUST00000046704
AA Change: I203R

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

SMART Domains

Protein: ENSMUSP00000041975
Gene: ENSMUSG00000078920
AA Change: I203R

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 benign
Transcript: ENSMUST00000109202
AA Change: I203R

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

SMART Domains

Protein: ENSMUSP00000104825
Gene: ENSMUSG00000078920
AA Change: I203R

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

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 benign
Transcript: ENSMUST00000213728
AA Change: I203R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214804

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	A	8: 88,327,708	G1064R	probably damaging	Het
Adcy9	A	G	16: 4,288,823	V1046A	probably damaging	Het
Adgrv1	C	T	13: 81,422,128		probably null	Het
Apbb2	A	C	5: 66,312,164	L554W	probably damaging	Het
Arhgef10	C	T	8: 14,974,993	P722S	probably damaging	Het
Capns1	A	C	7: 30,194,085	M1R	probably null	Het
Chst1	C	T	2: 92,613,416	Q78*	probably null	Het
Clec12b	A	G	6: 129,379,617	S195P	possibly damaging	Het
Cog8	C	T	8: 107,052,576	M356I	probably damaging	Het
Cyp4b1	T	C	4: 115,625,227	N452D	probably damaging	Het
Defb40	A	T	8: 18,974,978	Y71N	probably benign	Het
Dhx8	G	T	11: 101,738,195	R190L		Het
Disp1	G	A	1: 183,087,235	T1207M	possibly damaging	Het
Dnah9	T	A	11: 66,117,638	Y787F	probably benign	Het
Egflam	T	C	15: 7,207,674	N1010D	probably damaging	Het
Fam151a	T	A	4: 106,746,057	Y272N	probably damaging	Het
Fat1	T	C	8: 45,039,901	Y3887H	probably damaging	Het
Fpr3	T	A	17: 17,971,463	I332N	probably benign	Het
Frmd4a	G	T	2: 4,603,954	G878W	probably damaging	Het
Fv1	T	C	4: 147,869,171	Y65H	possibly damaging	Het
Gabra6	G	A	11: 42,307,462	A387V	probably benign	Het
Gm34653	A	T	2: 34,839,197	Y336F	probably damaging	Het
Gna11	T	C	10: 81,530,881	T332A		Het
Gpr161	T	A	1: 165,306,188	H6Q	possibly damaging	Het
Grin2b	CA	C	6: 135,732,511		probably null	Het
Heatr3	A	T	8: 88,150,199	M290L	probably benign	Het
Ighv5-8	TATACAT	TAT	12: 113,654,963		probably benign	Het
Klhl10	A	G	11: 100,447,136	M234V	possibly damaging	Het
Klra4	A	G	6: 130,062,144	I95T	possibly damaging	Het
Krt84	A	G	15: 101,529,663	F286L	probably damaging	Het
Lrp2	A	G	2: 69,519,916	V704A	probably benign	Het
Lypd6b	A	T	2: 49,947,522	S169C	possibly damaging	Het
Mapk12	T	C	15: 89,140,408	E22G	probably benign	Het
Ncapg	T	C	5: 45,676,641	C340R	probably benign	Het
Ncor2	A	G	5: 125,034,022	L394P		Het
Nek1	T	G	8: 61,028,734	S228A	probably damaging	Het
Olfr1224-ps1	C	T	2: 89,156,375	E267K	possibly damaging	Het
Olfr314	T	A	11: 58,786,733	F166L	possibly damaging	Het
Olfr320	T	C	11: 58,683,896	C8R	probably benign	Het
Olfr329-ps	A	T	11: 58,542,956	C186*	probably null	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Pcdha8	C	A	18: 36,993,232	P256T	possibly damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Ptprn	A	T	1: 75,252,374	M799K	probably damaging	Het
Rhpn2	A	T	7: 35,384,048		probably benign	Het
Sae1	A	G	7: 16,336,743	F281L	probably benign	Het
Slc25a23	A	G	17: 57,047,309	Y366H	probably benign	Het
Slc25a25	G	T	2: 32,419,163	T222K	probably damaging	Het
Smarca2	T	A	19: 26,682,052	F914Y	possibly damaging	Het
Spef2	C	A	15: 9,653,005	V897L	probably benign	Het
Spon2	C	A	5: 33,216,710	E110*	probably null	Het
Sstr2	A	G	11: 113,624,351	N32S	probably benign	Het
Stk4	T	C	2: 164,118,065	V415A	probably benign	Het
Tcaf1	T	G	6: 42,677,438	T607P	probably benign	Het
Ush1c	C	A	7: 46,201,056	L766F	probably damaging	Het
Usp9y	T	C	Y: 1,383,354	I795V	probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn2r53	A	G	7: 12,606,304	S81P	probably damaging	Het
Vps45	A	G	3: 96,053,033		probably benign	Het
Wdr6	A	G	9: 108,574,428	V752A	probably benign	Het
Xkr4	G	A	1: 3,216,135	R611*	probably null	Het
Zc3h6	T	G	2: 129,017,176	Y1042*	probably null	Het
Zfp236	A	G	18: 82,620,344	S1384P	possibly damaging	Het
Zfp800	A	T	6: 28,243,216	N583K	probably benign	Het
Zpld1	T	C	16: 55,241,401	S206G	probably benign	Het
Zxdc	T	A	6: 90,372,839	S372R	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
IGL02451:Ifi47	APN	11	49095777	missense	probably damaging	1.00
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
R9487:Ifi47	UTSW	11	49095793	missense	probably damaging	1.00
R9747:Ifi47	UTSW	11	49096540	missense	possibly damaging	0.93
Z1177:Ifi47	UTSW	11	49096275	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACGCAGACGCTTATCTAGACC -3'
(R):5'- GCATCCGAGATATTGGGCAAG -3'

Sequencing Primer
(F):5'- ATCTAGACCAAGTGGGATTTGCC -3'
(R):5'- GCAAACATATGACGCTTGTGC -3'

Posted On

2021-11-19