Mutagenetix > Incidental Mutation

Incidental Mutation 'R8249:Ifit1'

640349

Institutional Source

Beutler Lab

Gene Symbol

Ifit1

Ensembl Gene

ENSMUSG00000034459

Gene Name

interferon-induced protein with tetratricopeptide repeats 1

Synonyms

Ifi56, ISG56

MMRRC Submission

067649-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34618289-34627409 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 34618389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087357] [ENSMUST00000102824]

AlphaFold

Q64282

Predicted Effect

probably benign
Transcript: ENSMUST00000087357

SMART Domains

Protein: ENSMUSP00000093816
Gene: ENSMUSG00000067297

Domain	Start	End	E-Value	Type
TPR	60	93	2.92e1	SMART
TPR	100	133	6.24e1	SMART
TPR	144	179	4.32e1	SMART
low complexity region	217	230	N/A	INTRINSIC
TPR	249	282	2.24e1	SMART
TPR	334	367	4.55e1	SMART
low complexity region	411	421	N/A	INTRINSIC
TPR	429	462	1.45e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000102824

SMART Domains

Protein: ENSMUSP00000099888
Gene: ENSMUSG00000034459

Domain	Start	End	E-Value	Type
TPR	52	85	4.8e1	SMART
TPR	92	125	6.92e1	SMART
TPR	138	171	1.2e1	SMART
low complexity region	210	221	N/A	INTRINSIC
low complexity region	223	234	N/A	INTRINSIC
TPR	242	275	4.93e1	SMART
TPR	329	362	3.89e1	SMART
TPR	426	459	1.45e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered response to vesicular stomatitis virus (VSV) infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,360,971 (GRCm39)	S441P	probably benign	Het
Adck2	C	T	6: 39,562,667 (GRCm39)	R513*	probably null	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Arhgap12	A	T	18: 6,027,635 (GRCm39)	I736N	probably damaging	Het
AW554918	C	T	18: 25,472,775 (GRCm39)	T193I	probably benign	Het
Bscl2	T	C	19: 8,823,884 (GRCm39)	Y270H	probably damaging	Het
Btd	T	C	14: 31,387,905 (GRCm39)	Y112H	probably damaging	Het
Camk2d	C	T	3: 126,591,378 (GRCm39)	H283Y	probably damaging	Het
Cnga1	T	C	5: 72,762,737 (GRCm39)	Y259C	probably benign	Het
Dnm3	A	T	1: 162,305,312 (GRCm39)	C27*	probably null	Het
Fbxo48	T	A	11: 16,903,433 (GRCm39)	S20T	possibly damaging	Het
Fkbp6	A	G	5: 135,378,806 (GRCm39)	S14P	possibly damaging	Het
Gcfc2	T	C	6: 81,933,932 (GRCm39)	F730L	probably benign	Het
Gm136	C	A	4: 34,750,955 (GRCm39)	R106L	probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Grin2c	C	T	11: 115,144,663 (GRCm39)	R621Q	probably damaging	Het
H2-M11	T	A	17: 36,859,900 (GRCm39)	W298R	probably damaging	Het
Hars2	A	T	18: 36,921,054 (GRCm39)	I209F	probably damaging	Het
Hmcn1	A	T	1: 150,695,117 (GRCm39)	N262K	probably benign	Het
Hycc2	G	A	1: 58,573,796 (GRCm39)	S336L	probably benign	Het
Ighv1-85	T	C	12: 115,963,844 (GRCm39)	D52G	probably benign	Het
Kit	T	C	5: 75,802,068 (GRCm39)	V657A	probably damaging	Het
Krt32	T	C	11: 99,977,548 (GRCm39)	I173V	probably benign	Het
Lrfn3	GC	GCCAGGGGAGGTGAGCGGTGGGTCACCTCCC	7: 30,059,298 (GRCm39)		probably null	Het
Lrp1	C	A	10: 127,441,412 (GRCm39)	S237I	probably benign	Het
Map3k9	T	C	12: 81,827,551 (GRCm39)	D33G	unknown	Het
Mroh7	T	C	4: 106,578,409 (GRCm39)	T90A	probably benign	Het
Mterf1a	A	C	5: 3,941,550 (GRCm39)	I106S	probably damaging	Het
Mtrf1	C	A	14: 79,638,919 (GRCm39)	A17E	probably benign	Het
Musk	T	G	4: 58,368,926 (GRCm39)	L635R	probably damaging	Het
Naxe	A	T	3: 87,965,695 (GRCm39)	W35R	possibly damaging	Het
Nlrp9c	T	A	7: 26,074,778 (GRCm39)	K806*	probably null	Het
Pi4k2a	A	G	19: 42,103,501 (GRCm39)	E337G	probably benign	Het
Pwwp2b	G	T	7: 138,834,759 (GRCm39)	G67C	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Scn10a	T	A	9: 119,446,840 (GRCm39)	Y1396F	probably damaging	Het
Sdk1	A	T	5: 142,173,770 (GRCm39)		probably null	Het
Serpina1f	C	T	12: 103,660,027 (GRCm39)	G85E	probably damaging	Het
Tceanc2	G	A	4: 107,036,190 (GRCm39)		probably benign	Het
Tmem156	T	A	5: 65,232,969 (GRCm39)	R186*	probably null	Het
Trbv16	A	G	6: 41,128,932 (GRCm39)	T39A	possibly damaging	Het
Tti1	C	G	2: 157,842,635 (GRCm39)	S798T	probably benign	Het
Unc80	A	T	1: 66,658,650 (GRCm39)	M1656L	probably benign	Het
Wnt2	C	A	6: 18,030,284 (GRCm39)	M1I	probably null	Het

Other mutations in Ifit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Ifit1	APN	19	34,625,533 (GRCm39)	missense	possibly damaging	0.73
IGL01484:Ifit1	APN	19	34,626,243 (GRCm39)	missense	probably damaging	0.99
IGL01505:Ifit1	APN	19	34,625,854 (GRCm39)	missense	probably benign	0.38
IGL02663:Ifit1	APN	19	34,618,380 (GRCm39)	utr 5 prime	probably benign
IGL03063:Ifit1	APN	19	34,625,404 (GRCm39)	missense	possibly damaging	0.71
R0655:Ifit1	UTSW	19	34,625,047 (GRCm39)	missense	probably damaging	1.00
R1524:Ifit1	UTSW	19	34,625,032 (GRCm39)	missense	probably damaging	0.97
R1859:Ifit1	UTSW	19	34,624,944 (GRCm39)	missense	probably benign	0.00
R3805:Ifit1	UTSW	19	34,625,556 (GRCm39)	missense	probably damaging	0.99
R4514:Ifit1	UTSW	19	34,625,913 (GRCm39)	nonsense	probably null
R4714:Ifit1	UTSW	19	34,625,563 (GRCm39)	missense	probably damaging	0.99
R5310:Ifit1	UTSW	19	34,626,204 (GRCm39)	missense	probably benign
R5620:Ifit1	UTSW	19	34,625,238 (GRCm39)	missense	probably damaging	1.00
R5787:Ifit1	UTSW	19	34,624,975 (GRCm39)	missense	probably benign	0.29
R5964:Ifit1	UTSW	19	34,625,869 (GRCm39)	missense	possibly damaging	0.76
R8230:Ifit1	UTSW	19	34,625,068 (GRCm39)	missense	probably benign	0.00
R8713:Ifit1	UTSW	19	34,625,038 (GRCm39)	missense	probably benign	0.01
R9054:Ifit1	UTSW	19	34,625,887 (GRCm39)	missense	possibly damaging	0.91
R9227:Ifit1	UTSW	19	34,625,236 (GRCm39)	missense	possibly damaging	0.86
R9230:Ifit1	UTSW	19	34,625,236 (GRCm39)	missense	possibly damaging	0.86
R9723:Ifit1	UTSW	19	34,626,257 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GCGTCTCCCTGGATAAACTG -3'
(R):5'- ACCAGGCACACAGCTTAGTG -3'

Sequencing Primer
(F):5'- GGATAAACTGCAGGCTTCAGTTTCAC -3'
(R):5'- CAGCTTAGTGGGGGCATTAAGC -3'

Posted On

2020-07-28