Mutagenetix > Incidental Mutations

Incidental Mutation 'R8049:Ifit3'

618964

Institutional Source

Beutler Lab

Gene Symbol

Ifit3

Ensembl Gene

ENSMUSG00000074896

Gene Name

interferon-induced protein with tetratricopeptide repeats 3

Synonyms

Ifi49

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8049 (G1)

Quality Score

106.008

Status

Not validated

Chromosome

Chromosomal Location

34583531-34588731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34588080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 342 (E342V)

Ref Sequence

ENSEMBL: ENSMUSP00000099889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102825] [ENSMUST00000112467] [ENSMUST00000168254]

AlphaFold

Q64345

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102825
AA Change: E342V

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099889
Gene: ENSMUSG00000074896
AA Change: E342V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112467

SMART Domains

Protein: ENSMUSP00000108086
Gene: ENSMUSG00000079339

Domain	Start	End	E-Value	Type
TPR	60	93	3.41e1	SMART
TPR	100	133	6.24e1	SMART
TPR	146	179	3.69e1	SMART
low complexity region	217	231	N/A	INTRINSIC
TPR	249	282	6.75e1	SMART
TPR	338	371	1.64e1	SMART
low complexity region	417	429	N/A	INTRINSIC
TPR	433	466	1.08e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168254

SMART Domains

Protein: ENSMUSP00000132781
Gene: ENSMUSG00000079339

Domain	Start	End	E-Value	Type
TPR	60	93	3.41e1	SMART
TPR	100	133	6.24e1	SMART
TPR	146	179	3.69e1	SMART
low complexity region	217	231	N/A	INTRINSIC
TPR	249	282	6.75e1	SMART
TPR	338	371	1.64e1	SMART
low complexity region	417	429	N/A	INTRINSIC
TPR	433	466	1.08e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,759,104	T69S	probably benign	Het
2310050C09Rik	A	T	3: 92,868,895	Y160*	probably null	Het
2610044O15Rik8	A	T	8: 129,220,074	L90H	probably damaging	Het
3110001I22Rik	C	T	16: 13,677,759	R241C	probably damaging	Het
3632451O06Rik	G	T	14: 49,773,536	A238E	probably damaging	Het
5730455P16Rik	A	G	11: 80,377,972	S4P	possibly damaging	Het
Abca13	T	A	11: 9,291,867	N1243K	probably damaging	Het
Adgrg6	A	T	10: 14,428,199	S824T	probably benign	Het
C3ar1	T	A	6: 122,850,100	Y386F	probably damaging	Het
Cdc14a	T	C	3: 116,293,928	N527S	probably benign	Het
Cfap69	A	T	5: 5,619,085		probably benign	Het
Col7a1	C	T	9: 108,975,563	P2279S	unknown	Het
Crb2	G	A	2: 37,793,240	G918D	probably benign	Het
Dcn	C	A	10: 97,513,617	N250K	probably damaging	Het
Dctn5	G	A	7: 122,133,243		probably benign	Het
Ddx55	T	C	5: 124,556,758	V83A	probably damaging	Het
Dnaja2	T	A	8: 85,539,247	H403L	possibly damaging	Het
Dpy19l4	T	C	4: 11,303,982	I143V	probably benign	Het
Efna5	G	T	17: 62,650,982	T93K	probably benign	Het
Eml6	A	G	11: 29,893,201	V171A	possibly damaging	Het
Esyt1	C	G	10: 128,512,086	V942L	probably benign	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam78a	C	A	2: 32,083,023		probably benign	Het
Fat2	A	G	11: 55,312,066	Y61H	probably benign	Het
Fbxw14	A	T	9: 109,276,143	M318K	probably damaging	Het
Gm14295	A	G	2: 176,809,078	I120M	probably benign	Het
Gm14403	T	A	2: 177,508,518	Y86N	probably benign	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gpr55	T	C	1: 85,941,697	D54G	probably benign	Het
Gtf2b	T	G	3: 142,778,214	S50A	probably damaging	Het
Iqgap3	T	A	3: 88,104,302	I798N	probably damaging	Het
Lpin1	T	C	12: 16,563,684	D494G		Het
Lsm12	T	C	11: 102,165,409	E149G	possibly damaging	Het
Mtfr2	T	C	10: 20,352,857	S50P	possibly damaging	Het
Ndnf	T	C	6: 65,703,430	M231T	probably benign	Het
Noc3l	A	T	19: 38,812,429	V203E	probably benign	Het
Olfr368	A	T	2: 37,332,334	T196S	probably damaging	Het
Olfr387-ps1	G	T	11: 73,665,162	K184N	possibly damaging	Het
Olfr649	C	A	7: 104,189,810	L132F	probably damaging	Het
Olfr824	A	T	10: 130,126,600	Y152*	probably null	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde6b	C	T	5: 108,425,252	P496L	probably benign	Het
Plppr1	A	T	4: 49,300,942	M92L	probably benign	Het
Ptprk	C	G	10: 28,383,569	S335C	possibly damaging	Het
Rars2	T	A	4: 34,650,217	M334K	probably benign	Het
Rasl10a	A	T	11: 5,059,823	I124F	probably damaging	Het
Rgs12	T	A	5: 35,026,030	V1007E	possibly damaging	Het
Rnf122	T	A	8: 31,128,580	C119S	probably damaging	Het
Scn11a	T	A	9: 119,755,083	I1489F	probably damaging	Het
Setd6	C	A	8: 95,716,688	S186R	probably benign	Het
Tex19.1	A	G	11: 121,147,322	T169A	probably benign	Het
Th	G	A	7: 142,894,123	P408S	probably damaging	Het
Trappc13	T	C	13: 104,144,544	M337V	probably benign	Het
Treml2	A	T	17: 48,302,734	K65*	probably null	Het
Ubxn4	T	C	1: 128,256,196	S98P	probably damaging	Het
Wrnip1	A	G	13: 32,821,977	S601G	probably benign	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
R6194:Ifit3	UTSW	19	34587627	missense	probably benign	0.06
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
R7947:Ifit3	UTSW	19	34587959	nonsense	probably null
R8142:Ifit3	UTSW	19	34587501	missense	probably damaging	1.00
R8850:Ifit3	UTSW	19	34587588	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTCATGTGCCGTTACAGG -3'
(R):5'- TGCTACTGGAGGTTAAGATCTGC -3'

Sequencing Primer
(F):5'- TCATGTGCCGTTACAGGGAAATAC -3'
(R):5'- AAGATCTGCTTGCTATGTTTGCTC -3'

Posted On

2020-01-23