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

47kDa, IRG-47, Igrd, Iigp4

MMRRC Submission

068897-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R9076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48967414-48987801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 48986842 bp (GRCm39)

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: 89,054,336 (GRCm39)	G1064R	probably damaging	Het
Adcy9	A	G	16: 4,106,687 (GRCm39)	V1046A	probably damaging	Het
Adgrv1	C	T	13: 81,570,247 (GRCm39)		probably null	Het
Apbb2	A	C	5: 66,469,507 (GRCm39)	L554W	probably damaging	Het
Arhgef10	C	T	8: 15,024,993 (GRCm39)	P722S	probably damaging	Het
B3galt9	A	T	2: 34,729,209 (GRCm39)	Y336F	probably damaging	Het
Capns1	A	C	7: 29,893,510 (GRCm39)	M1R	probably null	Het
Chst1	C	T	2: 92,443,761 (GRCm39)	Q78*	probably null	Het
Clec12b	A	G	6: 129,356,580 (GRCm39)	S195P	possibly damaging	Het
Cog8	C	T	8: 107,779,208 (GRCm39)	M356I	probably damaging	Het
Cyp4b1	T	C	4: 115,482,424 (GRCm39)	N452D	probably damaging	Het
Defb40	A	T	8: 19,024,994 (GRCm39)	Y71N	probably benign	Het
Dhx8	G	T	11: 101,629,021 (GRCm39)	R190L		Het
Disp1	G	A	1: 182,868,799 (GRCm39)	T1207M	possibly damaging	Het
Dnah9	T	A	11: 66,008,464 (GRCm39)	Y787F	probably benign	Het
Egflam	T	C	15: 7,237,155 (GRCm39)	N1010D	probably damaging	Het
Fam151a	T	A	4: 106,603,254 (GRCm39)	Y272N	probably damaging	Het
Fat1	T	C	8: 45,492,938 (GRCm39)	Y3887H	probably damaging	Het
Fpr3	T	A	17: 18,191,725 (GRCm39)	I332N	probably benign	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Fv1	T	C	4: 147,953,628 (GRCm39)	Y65H	possibly damaging	Het
Gabra6	G	A	11: 42,198,289 (GRCm39)	A387V	probably benign	Het
Gna11	T	C	10: 81,366,715 (GRCm39)	T332A		Het
Gpr161	T	A	1: 165,133,757 (GRCm39)	H6Q	possibly damaging	Het
Grin2b	CA	C	6: 135,709,509 (GRCm39)		probably null	Het
Heatr3	A	T	8: 88,876,827 (GRCm39)	M290L	probably benign	Het
Ighv5-8	TATACAT	TAT	12: 113,618,583 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,337,962 (GRCm39)	M234V	possibly damaging	Het
Klra4	A	G	6: 130,039,107 (GRCm39)	I95T	possibly damaging	Het
Krt84	A	G	15: 101,438,098 (GRCm39)	F286L	probably damaging	Het
Lrp2	A	G	2: 69,350,260 (GRCm39)	V704A	probably benign	Het
Lypd6b	A	T	2: 49,837,534 (GRCm39)	S169C	possibly damaging	Het
Mapk12	T	C	15: 89,024,611 (GRCm39)	E22G	probably benign	Het
Ncapg	T	C	5: 45,833,983 (GRCm39)	C340R	probably benign	Het
Ncor2	A	G	5: 125,111,086 (GRCm39)	L394P		Het
Nek1	T	G	8: 61,481,768 (GRCm39)	S228A	probably damaging	Het
Or2ak7	T	C	11: 58,574,722 (GRCm39)	C8R	probably benign	Het
Or2t29	A	T	11: 58,433,782 (GRCm39)	C186*	probably null	Het
Or2t44	T	A	11: 58,677,559 (GRCm39)	F166L	possibly damaging	Het
Or4c119	C	T	2: 88,986,719 (GRCm39)	E267K	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pcdha8	C	A	18: 37,126,285 (GRCm39)	P256T	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Ptprn	A	T	1: 75,229,018 (GRCm39)	M799K	probably damaging	Het
Rhpn2	A	T	7: 35,083,473 (GRCm39)		probably benign	Het
Sae1	A	G	7: 16,070,668 (GRCm39)	F281L	probably benign	Het
Slc25a23	A	G	17: 57,354,309 (GRCm39)	Y366H	probably benign	Het
Slc25a25	G	T	2: 32,309,175 (GRCm39)	T222K	probably damaging	Het
Smarca2	T	A	19: 26,659,452 (GRCm39)	F914Y	possibly damaging	Het
Spef2	C	A	15: 9,653,091 (GRCm39)	V897L	probably benign	Het
Spon2	C	A	5: 33,374,054 (GRCm39)	E110*	probably null	Het
Sstr2	A	G	11: 113,515,177 (GRCm39)	N32S	probably benign	Het
Stk4	T	C	2: 163,959,985 (GRCm39)	V415A	probably benign	Het
Tcaf1	T	G	6: 42,654,372 (GRCm39)	T607P	probably benign	Het
Ush1c	C	A	7: 45,850,480 (GRCm39)	L766F	probably damaging	Het
Usp9y	T	C	Y: 1,383,354 (GRCm39)	I795V	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r53	A	G	7: 12,340,231 (GRCm39)	S81P	probably damaging	Het
Vps45	A	G	3: 95,960,345 (GRCm39)		probably benign	Het
Wdr6	A	G	9: 108,451,627 (GRCm39)	V752A	probably benign	Het
Xkr4	G	A	1: 3,286,358 (GRCm39)	R611*	probably null	Het
Zc3h6	T	G	2: 128,859,096 (GRCm39)	Y1042*	probably null	Het
Zfp236	A	G	18: 82,638,469 (GRCm39)	S1384P	possibly damaging	Het
Zfp800	A	T	6: 28,243,215 (GRCm39)	N583K	probably benign	Het
Zpld1	T	C	16: 55,061,764 (GRCm39)	S206G	probably benign	Het
Zxdc	T	A	6: 90,349,821 (GRCm39)	S372R	probably damaging	Het

Other mutations in Ifi47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Ifi47	APN	11	48,986,241 (GRCm39)	nonsense	probably null
IGL00811:Ifi47	APN	11	48,986,244 (GRCm39)	missense	probably benign	0.00
IGL02451:Ifi47	APN	11	48,986,604 (GRCm39)	missense	probably damaging	1.00
IGL02468:Ifi47	APN	11	48,986,810 (GRCm39)	missense	probably damaging	0.98
IGL02902:Ifi47	APN	11	48,986,617 (GRCm39)	missense	probably benign	0.00
IGL03260:Ifi47	APN	11	48,986,932 (GRCm39)	missense	probably damaging	0.99
R0111:Ifi47	UTSW	11	48,986,897 (GRCm39)	missense	probably damaging	1.00
R0636:Ifi47	UTSW	11	48,987,478 (GRCm39)	missense	possibly damaging	0.85
R1548:Ifi47	UTSW	11	48,986,698 (GRCm39)	missense	probably damaging	1.00
R2255:Ifi47	UTSW	11	48,987,474 (GRCm39)	missense	probably benign	0.02
R3703:Ifi47	UTSW	11	48,986,352 (GRCm39)	missense	probably benign	0.01
R5071:Ifi47	UTSW	11	48,986,361 (GRCm39)	missense	probably benign	0.01
R5073:Ifi47	UTSW	11	48,986,361 (GRCm39)	missense	probably benign	0.01
R5074:Ifi47	UTSW	11	48,986,361 (GRCm39)	missense	probably benign	0.01
R5262:Ifi47	UTSW	11	48,986,559 (GRCm39)	missense	probably benign	0.00
R5902:Ifi47	UTSW	11	48,986,213 (GRCm39)	splice site	probably null
R6745:Ifi47	UTSW	11	48,986,329 (GRCm39)	missense	probably benign	0.38
R7155:Ifi47	UTSW	11	48,987,369 (GRCm39)	missense	probably benign	0.39
R7535:Ifi47	UTSW	11	48,987,452 (GRCm39)	missense	probably damaging	1.00
R8330:Ifi47	UTSW	11	48,986,637 (GRCm39)	missense	possibly damaging	0.55
R8412:Ifi47	UTSW	11	48,986,425 (GRCm39)	missense	probably damaging	0.98
R9487:Ifi47	UTSW	11	48,986,620 (GRCm39)	missense	probably damaging	1.00
R9747:Ifi47	UTSW	11	48,987,367 (GRCm39)	missense	possibly damaging	0.93
Z1177:Ifi47	UTSW	11	48,987,102 (GRCm39)	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