Mutagenetix > Incidental Mutation

Incidental Mutation 'R1548:Ifi47'

172343

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

039587-MU

Accession Numbers

Essential gene?

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

Stock #

R1548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48967414-48987801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48986698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 155 (D155G)

Ref Sequence

ENSEMBL: ENSMUSP00000150940 (fasta)

Gene Model

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

AlphaFold

Q61635

Predicted Effect

probably damaging
Transcript: ENSMUST00000046704
AA Change: D155G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041975
Gene: ENSMUSG00000078920
AA Change: D155G

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: D155G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104825
Gene: ENSMUSG00000078920
AA Change: D155G

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 damaging
Transcript: ENSMUST00000214804
AA Change: D155G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213728
AA Change: D155G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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

0.7230

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,588,818 (GRCm39)	R78S	probably damaging	Het
Acad10	G	C	5: 121,764,104 (GRCm39)		probably benign	Het
Acad10	G	T	5: 121,764,103 (GRCm39)		probably benign	Het
Ang2	C	A	14: 51,432,990 (GRCm39)	E131*	probably null	Het
Ankfn1	T	C	11: 89,417,367 (GRCm39)	N82D	probably damaging	Het
Anks1b	T	C	10: 89,885,847 (GRCm39)	I181T	possibly damaging	Het
Bcl2l12	C	G	7: 44,642,242 (GRCm39)	G215R	probably damaging	Het
Bnc2	A	G	4: 84,194,194 (GRCm39)	Y1044H	probably damaging	Het
Cacna1s	T	C	1: 136,038,675 (GRCm39)	F1172S	probably damaging	Het
Cct8	A	G	16: 87,282,472 (GRCm39)	I482T	probably damaging	Het
Cfap74	C	T	4: 155,518,502 (GRCm39)	T580I	probably benign	Het
Cib1	A	T	7: 79,878,162 (GRCm39)	Y105*	probably null	Het
Cpa1	G	A	6: 30,642,334 (GRCm39)	G245D	probably damaging	Het
Csmd3	A	G	15: 47,845,371 (GRCm39)	V801A	possibly damaging	Het
Ddx10	T	C	9: 53,060,861 (GRCm39)		probably null	Het
Ddx4	T	C	13: 112,736,531 (GRCm39)	N613S	probably damaging	Het
Drd3	A	G	16: 43,641,704 (GRCm39)	D340G	probably benign	Het
E2f4	A	G	8: 106,031,320 (GRCm39)	*411W	probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Foxp1	A	T	6: 98,922,381 (GRCm39)	I450N	probably damaging	Het
Ftdc1	A	T	16: 58,436,202 (GRCm39)	D40E	probably benign	Het
Gpr19	A	G	6: 134,847,047 (GRCm39)	F175S	possibly damaging	Het
Gpr21	C	T	2: 37,408,084 (GRCm39)	T210M	probably damaging	Het
Grhl2	C	T	15: 37,336,567 (GRCm39)	A488V	probably benign	Het
Hif3a	T	C	7: 16,778,328 (GRCm39)	T435A	probably benign	Het
Hoxb4	C	T	11: 96,209,725 (GRCm39)	R44*	probably null	Het
Igdcc4	T	C	9: 65,042,509 (GRCm39)	L142P	probably benign	Het
Ints6	G	A	14: 62,951,141 (GRCm39)	P296L	probably damaging	Het
Itga3	A	G	11: 94,937,745 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Krtap20-1	G	A	16: 88,812,277 (GRCm39)		probably benign	Het
Lgals12	A	T	19: 7,581,677 (GRCm39)	H50Q	probably benign	Het
Lrp12	A	G	15: 39,735,902 (GRCm39)	S696P	probably damaging	Het
Lrp6	G	A	6: 134,436,392 (GRCm39)	T1258I	possibly damaging	Het
Meis2	C	T	2: 115,889,183 (GRCm39)	D190N	probably damaging	Het
Mir100hg	T	C	9: 41,492,672 (GRCm39)	L116P	probably damaging	Het
Mon2	C	T	10: 122,871,912 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,238,368 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo15a	A	G	11: 60,379,064 (GRCm39)	H1394R	probably damaging	Het
Myo5a	A	T	9: 75,079,028 (GRCm39)	I929F	probably damaging	Het
Nek6	T	A	2: 38,458,907 (GRCm39)	Y141N	probably damaging	Het
Notch4	T	A	17: 34,787,396 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	T	5: 63,957,525 (GRCm39)	D285V	probably benign	Het
Olfml1	T	C	7: 107,189,582 (GRCm39)	S216P	possibly damaging	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Pfkfb2	G	T	1: 130,625,820 (GRCm39)	H453Q	probably benign	Het
Pigt	C	T	2: 164,343,439 (GRCm39)	T305I	probably benign	Het
Plxnb1	C	T	9: 108,929,968 (GRCm39)	L275F	possibly damaging	Het
Ppm1d	C	T	11: 85,230,431 (GRCm39)	R350C	probably damaging	Het
Prss1l	G	T	6: 41,372,945 (GRCm39)	L72F	probably damaging	Het
Rassf1	C	A	9: 107,429,045 (GRCm39)	P84T	probably benign	Het
Rgl3	G	T	9: 21,892,002 (GRCm39)	R361S	probably benign	Het
Rnf213	G	A	11: 119,333,533 (GRCm39)	R2914H	probably damaging	Het
Ryr2	A	T	13: 11,569,435 (GRCm39)	C4956*	probably null	Het
Scaper	C	T	9: 55,723,954 (GRCm39)	R668H	probably damaging	Het
Spata6	T	C	4: 111,636,203 (GRCm39)	F165L	probably benign	Het
Tcirg1	A	T	19: 3,946,845 (GRCm39)	W694R	probably benign	Het
Tmem245	A	T	4: 56,906,233 (GRCm39)	Y160*	probably null	Het
Tshr	T	C	12: 91,500,805 (GRCm39)	Y279H	probably damaging	Het
Ttf1	A	C	2: 28,955,150 (GRCm39)	K171N	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Xdh	A	G	17: 74,220,896 (GRCm39)	V611A	probably damaging	Het
Zfp142	G	T	1: 74,609,263 (GRCm39)	H1408N	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
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
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'- ACGAAGCAGATGAATCCGCTGATG -3'
(R):5'- AACGCACCCAGATCCAAGTTGGAG -3'

Sequencing Primer
(F):5'- ATGTTGGGACTGTGGAGACC -3'
(R):5'- TCTCGAATCTGCTGAAGGAC -3'

Posted On

2014-04-13