Mutagenetix > Incidental Mutations

Incidental Mutation 'R6194:Ifit3'

502818

Institutional Source

Beutler Lab

Gene Symbol

Ifit3

Ensembl Gene

ENSMUSG00000074896

Gene Name

interferon-induced protein with tetratricopeptide repeats 3

Synonyms

Ifi49

MMRRC Submission

044334-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6194 (G1)

Quality Score

119.008

Status

Not validated

Chromosome

Chromosomal Location

34583531-34588731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34587627 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 191 (F191S)

Ref Sequence

ENSEMBL: ENSMUSP00000099889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102825]

Predicted Effect

probably benign
Transcript: ENSMUST00000102825
AA Change: F191S

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099889
Gene: ENSMUSG00000074896
AA Change: F191S

Domain	Start	End	E-Value	Type
TPR	51	84	7.69e1	SMART
TPR	94	127	2.84e1	SMART
TPR	136	169	5.69e0	SMART
Blast:TPR	170	206	6e-6	BLAST
low complexity region	209	218	N/A	INTRINSIC
TPR	241	274	1.02e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,104,035	I90V	probably benign	Het
5330417C22Rik	T	C	3: 108,465,779	I600V	probably benign	Het
Afap1l2	T	A	19: 56,922,951	R370S	probably damaging	Het
Alcam	A	G	16: 52,268,398	Y537H	probably damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Asap1	A	G	15: 64,129,209	S508P	probably damaging	Het
Atg5	T	C	10: 44,294,616	L86P	probably damaging	Het
Atp13a5	G	A	16: 29,308,239	P502S	probably damaging	Het
AW209491	T	A	13: 14,637,120	I186K	possibly damaging	Het
Baz1b	T	C	5: 135,243,890	Y1354H	probably damaging	Het
Card6	A	T	15: 5,098,444	S1157T	unknown	Het
Chil6	A	G	3: 106,404,876		probably null	Het
Chrna1	A	G	2: 73,570,472	V238A	probably benign	Het
Cluap1	A	G	16: 3,929,906	S308G	probably benign	Het
Cntnap4	A	G	8: 112,875,429	D1155G	probably damaging	Het
Cptp	A	G	4: 155,866,641	F123L	probably damaging	Het
Fbxw2	G	A	2: 34,807,404	T317I	probably damaging	Het
Gc	A	T	5: 89,441,579	V197E	probably benign	Het
Gusb	C	T	5: 129,990,065	V577M	possibly damaging	Het
Hectd1	A	T	12: 51,748,445	N2400K	probably damaging	Het
Hnrnph1	T	A	11: 50,383,277	D340E	possibly damaging	Het
Hs3st1	C	A	5: 39,614,405	K298N	probably damaging	Het
Hunk	A	T	16: 90,496,395	T522S	probably damaging	Het
Ifnab	T	A	4: 88,691,125	K35*	probably null	Het
Ifnab	G	T	4: 88,691,126	N34K	probably damaging	Het
Ighmbp2	C	A	19: 3,262,003	R917L	possibly damaging	Het
Igkv13-84	C	T	6: 68,939,932	A71V	possibly damaging	Het
Lim2	T	A	7: 43,435,662	C159S	probably damaging	Het
Lrrc56	T	C	7: 141,205,651	Y147H	probably damaging	Het
Ltn1	A	G	16: 87,415,810	L621P	probably damaging	Het
Mapk8ip1	C	A	2: 92,389,244	G81C	probably damaging	Het
Mboat2	T	A	12: 24,946,638	S213R	probably benign	Het
Mmel1	T	A	4: 154,883,216	C99*	probably null	Het
Mrvi1	T	C	7: 110,899,694	N377D	probably damaging	Het
Myo9a	A	G	9: 59,869,750	I1144V	probably benign	Het
Naa15	A	G	3: 51,463,300	T612A	probably benign	Het
Naalad2	C	T	9: 18,351,147	V362I	probably benign	Het
Nbeal1	A	T	1: 60,257,484	I1178F	possibly damaging	Het
Nras	C	A	3: 103,058,953	A11E	probably damaging	Het
Olfr275	T	A	4: 52,825,779	C127*	probably null	Het
Olfr681	G	T	7: 105,122,170	V238L	probably benign	Het
Pcdhb7	A	G	18: 37,342,146	T112A	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351		probably benign	Het
Pfkfb2	A	G	1: 130,697,887	*519Q	probably null	Het
Prodh	A	T	16: 18,072,517	H515Q	probably benign	Het
Rbfox2	T	C	15: 77,084,157	T435A	possibly damaging	Het
Rbks	T	C	5: 31,666,890	E87G	probably benign	Het
Scyl1	G	T	19: 5,770,306	Q167K	possibly damaging	Het
Serpina3i	T	A	12: 104,266,503	D222E	probably benign	Het
Slc36a4	T	A	9: 15,726,876	C199*	probably null	Het
Slx1b	C	T	7: 126,692,331	R187H	possibly damaging	Het
Stxbp5	A	G	10: 9,817,339	F348L	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tfpt	A	T	7: 3,629,027	L28Q	probably damaging	Het
Trap1	G	A	16: 4,054,800	T335M	possibly damaging	Het
Zcchc2	T	A	1: 105,991,117	F110I	probably damaging	Het
Zfp345	A	T	2: 150,472,631	C329S	probably damaging	Het

Other mutations in Ifit3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1501:Ifit3	UTSW	19	34588251	missense	probably benign	0.13
R1521:Ifit3	UTSW	19	34587173	missense	probably damaging	1.00
R3084:Ifit3	UTSW	19	34587240	missense	probably damaging	0.99
R5017:Ifit3	UTSW	19	34587192	missense	possibly damaging	0.78
R5306:Ifit3	UTSW	19	34587807	missense	probably damaging	1.00
R6523:Ifit3	UTSW	19	34588155	missense	probably benign	0.10
R6559:Ifit3	UTSW	19	34587114	missense	probably damaging	1.00
R7535:Ifit3	UTSW	19	34587880	missense	probably damaging	0.98
R8049:Ifit3	UTSW	19	34588080	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GACAAGGTGAGACAAGTTTGCC -3'
(R):5'- AAAACTGAGCTGCCTTTTGG -3'

Sequencing Primer
(F):5'- TGCGAATCCTTACAGCATGG -3'
(R):5'- GAGGACATCCGTTTGATTAGGAGC -3'

Posted On

2018-02-27