Mutagenetix > Incidental Mutation

Incidental Mutation 'R6662:Ifit3b'

528041

Institutional Source

Beutler Lab

Gene Symbol

Ifit3b

Ensembl Gene

ENSMUSG00000062488

Gene Name

interferon-induced protein with tetratricopeptide repeats 3B

Synonyms

I830012O16Rik

MMRRC Submission

044782-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34585370-34590801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34589337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 171 (E171G)

Ref Sequence

ENSEMBL: ENSMUSP00000075599 (fasta)

Gene Model

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

AlphaFold

E9PV48

Predicted Effect

probably damaging
Transcript: ENSMUST00000076249
AA Change: E171G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075599
Gene: ENSMUSG00000062488
AA Change: E171G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,062,285 (GRCm39)		probably null	Het
Acox1	A	G	11: 116,066,149 (GRCm39)	Y418H	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Aldh3a1	G	A	11: 61,105,481 (GRCm39)	V196I	probably benign	Het
Aox3	A	G	1: 58,157,774 (GRCm39)	K44E	probably damaging	Het
Bad	T	A	19: 6,928,438 (GRCm39)		probably benign	Het
BC034090	G	T	1: 155,102,085 (GRCm39)	Q60K	possibly damaging	Het
Casp6	A	G	3: 129,705,875 (GRCm39)	T181A	probably benign	Het
Catsperg2	G	A	7: 29,418,938 (GRCm39)		probably benign	Het
Ccdc14	T	C	16: 34,511,164 (GRCm39)	L46P	probably damaging	Het
Ces1b	A	G	8: 93,790,697 (GRCm39)	L364S	probably benign	Het
Cfap45	T	C	1: 172,357,417 (GRCm39)	I15T	probably benign	Het
Dph5	G	A	3: 115,722,205 (GRCm39)	E228K	probably benign	Het
Fat4	G	T	3: 39,010,970 (GRCm39)	L2023F	possibly damaging	Het
Garem1	T	C	18: 21,281,304 (GRCm39)	N351D	probably benign	Het
Grm2	C	T	9: 106,525,252 (GRCm39)	A488T	probably benign	Het
Il1rn	A	T	2: 24,226,887 (GRCm39)		probably null	Het
Itih5	A	T	2: 10,253,992 (GRCm39)	I748F	probably benign	Het
Kcnh5	C	A	12: 75,054,385 (GRCm39)	D520Y	probably damaging	Het
Mgat5	C	A	1: 127,396,974 (GRCm39)	H574N	probably damaging	Het
Moxd1	A	C	10: 24,160,658 (GRCm39)	D437A	probably damaging	Het
Mybpc2	A	G	7: 44,155,590 (GRCm39)	F888L	probably benign	Het
Ncs1	T	A	2: 31,177,372 (GRCm39)	L183Q	probably damaging	Het
Neto2	A	T	8: 86,389,844 (GRCm39)	D206E	probably damaging	Het
Omp	A	G	7: 97,794,546 (GRCm39)	L27P	probably damaging	Het
Oxsm	A	G	14: 16,242,287 (GRCm38)	S161P	probably benign	Het
Pate6	C	A	9: 35,701,296 (GRCm39)	R6M	possibly damaging	Het
Pde4b	A	G	4: 102,459,095 (GRCm39)	I381M	possibly damaging	Het
Pramel5	A	T	4: 143,999,675 (GRCm39)	N137K	probably benign	Het
Prss33	T	C	17: 24,052,934 (GRCm39)	S247G	probably damaging	Het
Rassf9	T	A	10: 102,381,899 (GRCm39)	L425Q	possibly damaging	Het
Setx	A	T	2: 29,048,126 (GRCm39)	D1909V	probably damaging	Het
Slc26a3	A	T	12: 31,507,345 (GRCm39)	K402*	probably null	Het
Slco1a6	G	A	6: 142,078,941 (GRCm39)	T118I	probably damaging	Het
Syne1	A	G	10: 5,078,416 (GRCm39)	L6769P	probably damaging	Het
Tas2r107	A	T	6: 131,636,452 (GRCm39)	V199D	possibly damaging	Het
Tchp	A	G	5: 114,858,076 (GRCm39)		probably null	Het
Trdn	A	T	10: 33,350,483 (GRCm39)	N684I	probably damaging	Het
Trio	G	T	15: 27,855,082 (GRCm39)	T700K	probably benign	Het
Ttn	C	T	2: 76,586,242 (GRCm39)	V20084I	probably benign	Het
Ubl3	A	T	5: 148,446,116 (GRCm39)	Y62*	probably null	Het
Uckl1	A	G	2: 181,215,053 (GRCm39)	Y267H	possibly damaging	Het
Zfp1005	G	A	2: 150,108,172 (GRCm39)		probably null	Het
Zfp786	T	C	6: 47,803,920 (GRCm39)	N41D	probably damaging	Het
Zfp983	T	C	17: 21,881,001 (GRCm39)	S310P	probably 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
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
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'- TATCACATGGGCCGTCTCTC -3'
(R):5'- TGATTAGGAGCTTTCCCCAAAG -3'

Sequencing Primer
(F):5'- ACATGGGCCGTCTCTCAGAAG -3'
(R):5'- AAGCATCTTTAATCAATCGCTCC -3'

Posted On

2018-07-24