Mutagenetix > Incidental Mutation

Incidental Mutation 'R2680:Ifit3b'

250987

Institutional Source

Beutler Lab

Gene Symbol

Ifit3b

Ensembl Gene

ENSMUSG00000062488

Gene Name

interferon-induced protein with tetratricopeptide repeats 3B

Synonyms

I830012O16Rik

MMRRC Submission

040433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2680 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

34585370-34590801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34589705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 294 (N294D)

Ref Sequence

ENSEMBL: ENSMUSP00000075599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076249] [ENSMUST00000087357] [ENSMUST00000112463]

AlphaFold

E9PV48

Predicted Effect

probably benign
Transcript: ENSMUST00000076249
AA Change: N294D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000075599
Gene: ENSMUSG00000062488
AA Change: N294D

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	5e-6	BLAST
TPR	241	274	1.02e1	SMART

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 benign
Transcript: ENSMUST00000112463

SMART Domains

Protein: ENSMUSP00000108082
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC024139	A	G	15: 76,005,939 (GRCm39)	W421R	probably damaging	Het
Car11	T	C	7: 45,351,909 (GRCm39)	S113P	probably benign	Het
Ccdc146	C	T	5: 21,510,267 (GRCm39)	A582T	possibly damaging	Het
Cct8l1	A	G	5: 25,722,133 (GRCm39)	T283A	probably benign	Het
Ckap5	A	G	2: 91,419,043 (GRCm39)	I1118V	probably benign	Het
Copa	C	T	1: 171,948,971 (GRCm39)	Q1199*	probably null	Het
Cpd	A	T	11: 76,681,825 (GRCm39)	N1140K	probably benign	Het
Cspp1	A	G	1: 10,174,530 (GRCm39)	D661G	probably damaging	Het
Dab2	A	G	15: 6,466,474 (GRCm39)	Q729R	possibly damaging	Het
Dnah9	T	C	11: 65,924,751 (GRCm39)	I2168V	probably benign	Het
Dync1h1	G	A	12: 110,609,681 (GRCm39)	R2821H	probably damaging	Het
Ercc5	T	C	1: 44,196,133 (GRCm39)	V42A	probably benign	Het
Evc	A	G	5: 37,467,581 (GRCm39)	V566A	probably benign	Het
Fcrl2	T	C	3: 87,164,656 (GRCm39)	Y290C	probably damaging	Het
Frmd4a	A	G	2: 4,539,364 (GRCm39)	R171G	probably damaging	Het
Galnt17	G	A	5: 131,140,661 (GRCm39)	P152L	probably damaging	Het
Gfi1	A	G	5: 107,869,297 (GRCm39)	L245P	probably damaging	Het
Heatr4	T	C	12: 84,027,237 (GRCm39)	K7E	possibly damaging	Het
Ift74	A	G	4: 94,541,265 (GRCm39)	Y230C	probably damaging	Het
Igsf10	C	T	3: 59,232,875 (GRCm39)	V1953I	probably benign	Het
Ikzf5	T	C	7: 130,998,490 (GRCm39)	D14G	probably damaging	Het
Il12rb2	T	A	6: 67,331,789 (GRCm39)	T259S	possibly damaging	Het
Itgae	T	A	11: 73,005,752 (GRCm39)	D305E	probably damaging	Het
Kif23	A	C	9: 61,844,758 (GRCm39)	D90E	probably benign	Het
Kprp	A	G	3: 92,731,770 (GRCm39)	F427L	unknown	Het
Lmnb1	T	A	18: 56,864,177 (GRCm39)	Y261N	probably damaging	Het
Megf8	T	C	7: 25,016,981 (GRCm39)	V17A	probably benign	Het
Mfap4	T	C	11: 61,378,057 (GRCm39)	Y190H	probably benign	Het
Mlh1	T	C	9: 111,065,085 (GRCm39)		probably null	Het
Mocos	C	A	18: 24,809,686 (GRCm39)	Q430K	probably damaging	Het
Ndst2	A	G	14: 20,774,822 (GRCm39)	F794L	probably damaging	Het
Nedd4l	A	T	18: 65,296,201 (GRCm39)	I197F	possibly damaging	Het
Nefm	A	G	14: 68,361,235 (GRCm39)	L343P	probably damaging	Het
Nfatc4	A	G	14: 56,070,291 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,148,655 (GRCm39)		probably null	Het
Nlrp4f	A	T	13: 65,342,157 (GRCm39)	L496*	probably null	Het
Nom1	T	C	5: 29,648,415 (GRCm39)	F654S	probably damaging	Het
Or4k2	A	T	14: 50,424,304 (GRCm39)	Y123*	probably null	Het
Pcdhac2	A	G	18: 37,278,639 (GRCm39)	K540E	possibly damaging	Het
Pde4dip	T	C	3: 97,608,933 (GRCm39)	N1974S	possibly damaging	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pik3ca	C	T	3: 32,490,697 (GRCm39)	R115*	probably null	Het
Pik3ca	T	C	3: 32,498,034 (GRCm39)	I492T	probably benign	Het
Ppp1ca	G	A	19: 4,244,594 (GRCm39)	E218K	possibly damaging	Het
Prex1	G	T	2: 166,443,692 (GRCm39)	D492E	possibly damaging	Het
Scaf8	T	C	17: 3,247,866 (GRCm39)	V1063A	possibly damaging	Het
Scn3a	G	T	2: 65,366,880 (GRCm39)	N47K	probably benign	Het
Sec61a2	G	T	2: 5,878,556 (GRCm39)	N348K	probably benign	Het
Sh3rf2	A	G	18: 42,234,715 (GRCm39)	E166G	probably damaging	Het
Slc19a2	C	A	1: 164,076,982 (GRCm39)	T54K	probably damaging	Het
Slc8a3	T	A	12: 81,249,113 (GRCm39)	I765F	probably damaging	Het
Snap91	A	T	9: 86,761,603 (GRCm39)	M1K	probably null	Het
Spef1l	T	C	7: 139,558,474 (GRCm39)	D41G	probably damaging	Het
Strc	T	C	2: 121,195,592 (GRCm39)	H1619R	probably damaging	Het
Tbl1xr1	C	T	3: 22,245,615 (GRCm39)	T207M	possibly damaging	Het
Tchp	T	C	5: 114,847,580 (GRCm39)		probably null	Het
Tln1	A	T	4: 43,539,668 (GRCm39)	F1581Y	probably damaging	Het
Tnxb	T	C	17: 34,922,594 (GRCm39)	V2469A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r225	T	A	17: 20,723,055 (GRCm39)	F165L	probably benign	Het
Vmn2r13	T	C	5: 109,322,178 (GRCm39)	D173G	possibly damaging	Het
Vmn2r6	A	C	3: 64,445,707 (GRCm39)	S673A	possibly damaging	Het
Vta1	G	A	10: 14,581,171 (GRCm39)		probably benign	Het
Wwc1	T	C	11: 35,766,756 (GRCm39)	T500A	probably benign	Het
Zfp784	T	A	7: 5,039,116 (GRCm39)	Q147H	possibly damaging	Het

Other mutations in Ifit3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Galilee	UTSW	19	34,588,925 (GRCm39)	missense	probably benign
negev	UTSW	19	34,588,860 (GRCm39)	missense	probably benign	0.14
R1528:Ifit3b	UTSW	19	34,589,072 (GRCm39)	missense	probably benign	0.05
R1996:Ifit3b	UTSW	19	34,588,877 (GRCm39)	missense	probably damaging	1.00
R2971:Ifit3b	UTSW	19	34,589,417 (GRCm39)	nonsense	probably null
R4395:Ifit3b	UTSW	19	34,589,951 (GRCm39)	nonsense	probably null
R4719:Ifit3b	UTSW	19	34,590,030 (GRCm39)	missense	probably damaging	0.96
R4726:Ifit3b	UTSW	19	34,588,860 (GRCm39)	missense	probably benign	0.14
R5094:Ifit3b	UTSW	19	34,589,948 (GRCm39)	missense	possibly damaging	0.93
R5958:Ifit3b	UTSW	19	34,589,142 (GRCm39)	missense	probably benign	0.02
R5987:Ifit3b	UTSW	19	34,589,598 (GRCm39)	missense	probably damaging	1.00
R6381:Ifit3b	UTSW	19	34,589,871 (GRCm39)	missense	probably benign	0.00
R6614:Ifit3b	UTSW	19	34,588,919 (GRCm39)	missense	probably benign	0.01
R6662:Ifit3b	UTSW	19	34,589,337 (GRCm39)	missense	probably damaging	1.00
R6804:Ifit3b	UTSW	19	34,588,947 (GRCm39)	missense	possibly damaging	0.92
R6847:Ifit3b	UTSW	19	34,588,925 (GRCm39)	missense	probably benign
R7685:Ifit3b	UTSW	19	34,589,955 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCCTAATCAAACGGATGTCCTCC -3'
(R):5'- CTCCTGGAGGTTGCAATAGC -3'

Sequencing Primer
(F):5'- TCCAAAAGGCAGCTCAGTTTTAC -3'
(R):5'- GCAATAGCGCTCATAGAGGTCTTC -3'

Posted On

2014-12-04