Mutagenetix > Incidental Mutation

Incidental Mutation 'R5902:Ifi47'

456397

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

044100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48967414-48987801 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 48986213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149108 (fasta)

Gene Model

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

AlphaFold

Q61635

Predicted Effect

probably null
Transcript: ENSMUST00000046704

SMART Domains

Protein: ENSMUSP00000041975
Gene: ENSMUSG00000078920

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 null
Transcript: ENSMUST00000109202

SMART Domains

Protein: ENSMUSP00000104825
Gene: ENSMUSG00000078920

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 null
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 null
Transcript: ENSMUST00000213728

Predicted Effect

probably null
Transcript: ENSMUST00000214804

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.1%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,539,281 (GRCm39)	M1V	probably null	Het
Abca13	T	A	11: 9,247,177 (GRCm39)	L2308H	probably damaging	Het
Abcc8	T	C	7: 45,764,463 (GRCm39)	T1161A	probably benign	Het
Acin1	T	A	14: 54,901,130 (GRCm39)	T659S	probably benign	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Alkbh8	A	G	9: 3,385,414 (GRCm39)	K569E	probably benign	Het
Anxa3	A	T	5: 96,960,712 (GRCm39)	K39*	probably null	Het
Aoc2	A	G	11: 101,220,072 (GRCm39)	E659G	probably damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU022252	T	C	4: 119,084,101 (GRCm39)	D104G	probably benign	Het
Car6	T	C	4: 150,271,956 (GRCm39)	Y231C	possibly damaging	Het
Cdh10	T	G	15: 18,985,341 (GRCm39)		probably null	Het
Cebpz	A	C	17: 79,233,366 (GRCm39)	M787R	probably benign	Het
Chst2	A	G	9: 95,287,662 (GRCm39)	L228P	probably damaging	Het
Clic4	T	C	4: 134,999,869 (GRCm39)	K11R	probably benign	Het
Col6a3	C	T	1: 90,729,921 (GRCm39)		probably null	Het
Commd7	T	A	2: 153,463,737 (GRCm39)	T144S	probably damaging	Het
Ctla2a	T	A	13: 61,082,834 (GRCm39)	*138Y	probably null	Het
Dhx33	A	T	11: 70,879,957 (GRCm39)	V351D	probably damaging	Het
Dnah9	G	A	11: 65,916,013 (GRCm39)	T2313I	probably benign	Het
Dspp	A	T	5: 104,325,977 (GRCm39)	D780V	unknown	Het
Dync1li1	A	G	9: 114,546,929 (GRCm39)		probably null	Het
E2f3	C	T	13: 30,169,250 (GRCm39)		probably benign	Het
Fan1	T	C	7: 64,023,070 (GRCm39)		probably null	Het
Gart	A	G	16: 91,425,415 (GRCm39)	S617P	probably damaging	Het
Ggcx	A	G	6: 72,406,979 (GRCm39)	N705S	possibly damaging	Het
Gm4841	A	T	18: 60,403,868 (GRCm39)	V75E	probably damaging	Het
Greb1l	A	G	18: 10,538,302 (GRCm39)	E1105G	probably benign	Het
Hr	C	A	14: 70,795,231 (GRCm39)	Q288K	probably benign	Het
Hus1	T	C	11: 8,960,669 (GRCm39)		probably benign	Het
Irf2bp1	T	C	7: 18,738,372 (GRCm39)	V4A	probably benign	Het
Kprp	C	T	3: 92,731,835 (GRCm39)	C405Y	unknown	Het
Lacc1	T	C	14: 77,272,239 (GRCm39)	I186V	possibly damaging	Het
Lifr	A	G	15: 7,220,231 (GRCm39)	T954A	probably benign	Het
Lonrf2	T	C	1: 38,846,174 (GRCm39)	M333V	probably benign	Het
Mthfd1	A	T	12: 76,337,826 (GRCm39)	H400L	probably benign	Het
Myh4	A	G	11: 67,141,733 (GRCm39)	K864R	possibly damaging	Het
Nup50	C	T	15: 84,819,641 (GRCm39)	A305V	probably benign	Het
Or4a74	T	A	2: 89,439,595 (GRCm39)	I284L	probably damaging	Het
Or4k44	C	T	2: 111,367,739 (GRCm39)	M298I	probably benign	Het
Pax4	G	T	6: 28,447,126 (GRCm39)	Q3K	probably benign	Het
Pced1b	T	G	15: 97,282,970 (GRCm39)	Y336*	probably null	Het
Postn	C	A	3: 54,279,510 (GRCm39)	N329K	probably benign	Het
Prickle1	T	C	15: 93,408,553 (GRCm39)	E82G	probably null	Het
Prtn3	T	C	10: 79,718,766 (GRCm39)	Y241H	probably damaging	Het
Rasgrf2	A	T	13: 92,068,011 (GRCm39)	I260K	probably damaging	Het
Sh3glb1	T	C	3: 144,418,431 (GRCm39)	N44S	possibly damaging	Het
Sis	A	T	3: 72,867,589 (GRCm39)		probably null	Het
Slc4a9	A	G	18: 36,662,386 (GRCm39)		probably null	Het
Slc4a9	A	T	18: 36,664,560 (GRCm39)	D406V	probably damaging	Het
Slc8a1	C	T	17: 81,715,511 (GRCm39)	G841R	probably damaging	Het
Smn1	C	T	13: 100,263,412 (GRCm39)	P60L	probably benign	Het
Snai1	G	A	2: 167,383,930 (GRCm39)	C241Y	probably damaging	Het
Spock3	A	G	8: 63,808,336 (GRCm39)	D411G	unknown	Het
Szt2	T	A	4: 118,248,700 (GRCm39)	T607S	probably benign	Het
Tcap	A	T	11: 98,274,673 (GRCm39)	M1L	probably benign	Het
Tex29	A	T	8: 11,905,723 (GRCm39)		probably benign	Het
Tex29	C	A	8: 11,904,276 (GRCm39)		probably benign	Het
Tex29	C	T	8: 11,904,277 (GRCm39)		probably benign	Het
Tln2	T	C	9: 67,269,999 (GRCm39)	T467A	probably benign	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Ube2q1	T	A	3: 89,683,487 (GRCm39)	L144*	probably null	Het
Vps13c	A	G	9: 67,841,729 (GRCm39)	E1917G	probably benign	Het
Wdr19	T	A	5: 65,384,482 (GRCm39)	N525K	probably benign	Het
Wdr3	A	T	3: 100,051,807 (GRCm39)		probably benign	Het
Wnt5b	T	A	6: 119,425,199 (GRCm39)	H6L	probably benign	Het
Yju2	A	G	17: 56,269,077 (GRCm39)	T62A	probably damaging	Het
Zdbf2	T	C	1: 63,345,685 (GRCm39)	S1355P	possibly damaging	Het
Zfp11	T	A	5: 129,734,976 (GRCm39)	I162F	probably damaging	Het
Zpbp	T	C	11: 11,365,332 (GRCm39)	T172A	probably benign	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
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
R9076:Ifi47	UTSW	11	48,986,842 (GRCm39)	missense	probably benign
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'- TGGTTACCCTCTCCTGAATCTGAG -3'
(R):5'- CATCAGAGAGATTTCCCTCCTG -3'

Sequencing Primer
(F):5'- CTCTCCTGAATCTGAGACACAG -3'
(R):5'- CCTCCTGGAGGGCTTTGTGAATAC -3'

Posted On

2017-02-15