Mutagenetix > Incidental Mutation

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

067486-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8049 (G1)

Quality Score

106.008

Status

Not validated

Chromosome

Chromosomal Location

34560931-34566131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34565480 bp (GRCm39)

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: 88,555,992 (GRCm39)	T69S	probably benign	Het
5730455P16Rik	A	G	11: 80,268,798 (GRCm39)	S4P	possibly damaging	Het
Abca13	T	A	11: 9,241,867 (GRCm39)	N1243K	probably damaging	Het
Adgrg6	A	T	10: 14,303,943 (GRCm39)	S824T	probably benign	Het
Armh4	G	T	14: 50,010,993 (GRCm39)	A238E	probably damaging	Het
C3ar1	T	A	6: 122,827,059 (GRCm39)	Y386F	probably damaging	Het
Cdc14a	T	C	3: 116,087,577 (GRCm39)	N527S	probably benign	Het
Cfap69	A	T	5: 5,669,085 (GRCm39)		probably benign	Het
Col7a1	C	T	9: 108,804,631 (GRCm39)	P2279S	unknown	Het
Crb2	G	A	2: 37,683,252 (GRCm39)	G918D	probably benign	Het
Dcn	C	A	10: 97,349,479 (GRCm39)	N250K	probably damaging	Het
Dctn5	G	A	7: 121,732,466 (GRCm39)		probably benign	Het
Ddx55	T	C	5: 124,694,821 (GRCm39)	V83A	probably damaging	Het
Dnaja2	T	A	8: 86,265,876 (GRCm39)	H403L	possibly damaging	Het
Dpy19l4	T	C	4: 11,303,982 (GRCm39)	I143V	probably benign	Het
Efna5	G	T	17: 62,957,977 (GRCm39)	T93K	probably benign	Het
Eml6	A	G	11: 29,843,201 (GRCm39)	V171A	possibly damaging	Het
Esyt1	C	G	10: 128,347,955 (GRCm39)	V942L	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam78a	C	A	2: 31,973,035 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,892 (GRCm39)	Y61H	probably benign	Het
Fbxw14	A	T	9: 109,105,211 (GRCm39)	M318K	probably damaging	Het
Gm14295	A	G	2: 176,500,871 (GRCm39)	I120M	probably benign	Het
Gm14403	T	A	2: 177,200,311 (GRCm39)	Y86N	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr55	T	C	1: 85,869,419 (GRCm39)	D54G	probably benign	Het
Gtf2b	T	G	3: 142,483,975 (GRCm39)	S50A	probably damaging	Het
Iqgap3	T	A	3: 88,011,609 (GRCm39)	I798N	probably damaging	Het
Kplce	A	T	3: 92,776,202 (GRCm39)	Y160*	probably null	Het
Lpin1	T	C	12: 16,613,685 (GRCm39)	D494G		Het
Lsm12	T	C	11: 102,056,235 (GRCm39)	E149G	possibly damaging	Het
Mtfr2	T	C	10: 20,228,603 (GRCm39)	S50P	possibly damaging	Het
Ndnf	T	C	6: 65,680,414 (GRCm39)	M231T	probably benign	Het
Noc3l	A	T	19: 38,800,873 (GRCm39)	V203E	probably benign	Het
Or1e27-ps1	G	T	11: 73,555,988 (GRCm39)	K184N	possibly damaging	Het
Or52h2	C	A	7: 103,839,017 (GRCm39)	L132F	probably damaging	Het
Or5c1	A	T	2: 37,222,346 (GRCm39)	T196S	probably damaging	Het
Or9r7	A	T	10: 129,962,469 (GRCm39)	Y152*	probably null	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde6b	C	T	5: 108,573,118 (GRCm39)	P496L	probably benign	Het
Plppr1	A	T	4: 49,300,942 (GRCm39)	M92L	probably benign	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Ptprk	C	G	10: 28,259,565 (GRCm39)	S335C	possibly damaging	Het
Rars2	T	A	4: 34,650,217 (GRCm39)	M334K	probably benign	Het
Rasl10a	A	T	11: 5,009,823 (GRCm39)	I124F	probably damaging	Het
Rgs12	T	A	5: 35,183,374 (GRCm39)	V1007E	possibly damaging	Het
Rnf122	T	A	8: 31,618,608 (GRCm39)	C119S	probably damaging	Het
Scn11a	T	A	9: 119,584,149 (GRCm39)	I1489F	probably damaging	Het
Setd6	C	A	8: 96,443,316 (GRCm39)	S186R	probably benign	Het
Tex19.1	A	G	11: 121,038,148 (GRCm39)	T169A	probably benign	Het
Th	G	A	7: 142,447,860 (GRCm39)	P408S	probably damaging	Het
Trappc13	T	C	13: 104,281,052 (GRCm39)	M337V	probably benign	Het
Treml2	A	T	17: 48,609,762 (GRCm39)	K65*	probably null	Het
Ubxn4	T	C	1: 128,183,933 (GRCm39)	S98P	probably damaging	Het
Wrnip1	A	G	13: 33,005,960 (GRCm39)	S601G	probably benign	Het
Zfp1006	A	T	8: 129,946,555 (GRCm39)	L90H	probably damaging	Het

Other mutations in Ifit3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1501:Ifit3	UTSW	19	34,565,651 (GRCm39)	missense	probably benign	0.13
R1521:Ifit3	UTSW	19	34,564,573 (GRCm39)	missense	probably damaging	1.00
R3084:Ifit3	UTSW	19	34,564,640 (GRCm39)	missense	probably damaging	0.99
R5017:Ifit3	UTSW	19	34,564,592 (GRCm39)	missense	possibly damaging	0.78
R5306:Ifit3	UTSW	19	34,565,207 (GRCm39)	missense	probably damaging	1.00
R6194:Ifit3	UTSW	19	34,565,027 (GRCm39)	missense	probably benign	0.06
R6523:Ifit3	UTSW	19	34,565,555 (GRCm39)	missense	probably benign	0.10
R6559:Ifit3	UTSW	19	34,564,514 (GRCm39)	missense	probably damaging	1.00
R7535:Ifit3	UTSW	19	34,565,280 (GRCm39)	missense	probably damaging	0.98
R7947:Ifit3	UTSW	19	34,565,359 (GRCm39)	nonsense	probably null
R8142:Ifit3	UTSW	19	34,564,901 (GRCm39)	missense	probably damaging	1.00
R8850:Ifit3	UTSW	19	34,564,988 (GRCm39)	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