Mutagenetix > Incidental Mutation

Incidental Mutation 'R6804:Ifit3b'

533507

Institutional Source

Beutler Lab

Gene Symbol

Ifit3b

Ensembl Gene

ENSMUSG00000062488

Gene Name

interferon-induced protein with tetratricopeptide repeats 3B

Synonyms

I830012O16Rik

MMRRC Submission

044917-MU

Accession Numbers

Essential gene?

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

Stock #

R6804 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34585370-34590801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34588947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 41 (Q41L)

Ref Sequence

ENSEMBL: ENSMUSP00000075599 (fasta)

Gene Model

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

AlphaFold

E9PV48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076249
AA Change: Q41L

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075599
Gene: ENSMUSG00000062488
AA Change: Q41L

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	T	1: 58,343,757 (GRCm39)	Q480L	probably benign	Het
Arid4b	T	A	13: 14,303,792 (GRCm39)	D72E	probably benign	Het
Avil	C	T	10: 126,844,175 (GRCm39)	Q245*	probably null	Het
BC048679	T	C	7: 81,146,612 (GRCm39)	S2G	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1d	T	C	14: 29,773,622 (GRCm39)	T1723A	probably benign	Het
Cfap91	T	C	16: 38,152,604 (GRCm39)	D202G	probably damaging	Het
Chil3	A	T	3: 106,071,495 (GRCm39)	Y56*	probably null	Het
Clec2i	A	G	6: 128,872,384 (GRCm39)	E172G	probably damaging	Het
Crybg1	C	T	10: 43,842,337 (GRCm39)	D1785N	probably damaging	Het
Csmd1	G	A	8: 16,087,260 (GRCm39)	R1930W	probably damaging	Het
D430041D05Rik	A	C	2: 103,979,371 (GRCm39)	S2019A	possibly damaging	Het
Ep300	T	A	15: 81,525,512 (GRCm39)	Y1445*	probably null	Het
Gne	A	G	4: 44,060,210 (GRCm39)	I61T	probably damaging	Het
Kplce	T	C	3: 92,776,354 (GRCm39)	T110A	possibly damaging	Het
Llgl2	A	G	11: 115,734,141 (GRCm39)		probably null	Het
Mast3	T	C	8: 71,239,376 (GRCm39)	I417V	probably benign	Het
Mettl21e	T	A	1: 44,257,295 (GRCm39)	I8F	probably benign	Het
Ms4a2	A	G	19: 11,594,899 (GRCm39)	Y183H	probably damaging	Het
Naip6	C	G	13: 100,435,675 (GRCm39)	E949D	probably benign	Het
Nbea	T	C	3: 55,994,874 (GRCm39)	T181A	probably benign	Het
Nrg1	T	C	8: 32,311,292 (GRCm39)	R476G	probably damaging	Het
Olfm3	A	T	3: 114,916,328 (GRCm39)	Y400F	probably benign	Het
Or12d2	A	G	17: 37,625,021 (GRCm39)	S85P	probably damaging	Het
Or1e33	A	G	11: 73,738,240 (GRCm39)	V237A	probably benign	Het
Or2a25	A	T	6: 42,888,852 (GRCm39)	T132S	probably benign	Het
Or2y1e	A	G	11: 49,218,808 (GRCm39)	D190G	probably benign	Het
Pappa2	T	C	1: 158,764,438 (GRCm39)	S358G	probably benign	Het
Pde4dip	C	A	3: 97,700,564 (GRCm39)	E259*	probably null	Het
Phlpp2	T	A	8: 110,655,197 (GRCm39)	L664Q	probably damaging	Het
Prpf8	A	G	11: 75,390,635 (GRCm39)	K1262R	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Saal1	GGCTTGCACGCCGT	G	7: 46,349,064 (GRCm39)		probably null	Het
Sec31a	C	T	5: 100,530,671 (GRCm39)	V701I	probably benign	Het
Smarca2	A	T	19: 26,729,286 (GRCm39)	R12S	possibly damaging	Het
Spocd1	T	A	4: 129,847,423 (GRCm39)	C537*	probably null	Het
Syt14	T	C	1: 192,584,161 (GRCm39)	E701G	probably damaging	Het
Taf3	T	C	2: 9,923,028 (GRCm39)	Y32C	possibly damaging	Het
Tfeb	T	C	17: 48,100,735 (GRCm39)		probably null	Het
Ttc13	C	A	8: 125,426,426 (GRCm39)	R168L	probably damaging	Het
Vmn2r11	T	A	5: 109,201,350 (GRCm39)	N385Y	probably damaging	Het
Vmn2r54	T	C	7: 12,363,792 (GRCm39)	K367R	probably benign	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
R2680:Ifit3b	UTSW	19	34,589,705 (GRCm39)	missense	probably benign	0.01
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
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'- GCTCCATCCAGTTACCATGC -3'
(R):5'- AGTAGATCCAGGCGTAGTTTCC -3'

Sequencing Primer
(F):5'- CCAGTTACCATGCAAAATTAAACATC -3'
(R):5'- GTAGTTTCCCCACGTGACCAG -3'

Posted On

2018-09-12