Mutagenetix > Incidental Mutation

Incidental Mutation 'R4719:Ifit3b'

354331

Institutional Source

Beutler Lab

Gene Symbol

Ifit3b

Ensembl Gene

ENSMUSG00000062488

Gene Name

interferon-induced protein with tetratricopeptide repeats 3B

Synonyms

I830012O16Rik

MMRRC Submission

041957-MU

Accession Numbers

Essential gene?

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

Stock #

R4719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34585370-34590801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34590030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 402 (Q402L)

Ref Sequence

ENSEMBL: ENSMUSP00000075599 (fasta)

Gene Model

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

AlphaFold

E9PV48

Predicted Effect

probably damaging
Transcript: ENSMUST00000076249
AA Change: Q402L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075599
Gene: ENSMUSG00000062488
AA Change: Q402L

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

Meta Mutation Damage Score

0.1027

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,089,971 (GRCm39)	Y971C	probably damaging	Het
Actr5	T	A	2: 158,468,433 (GRCm39)	S188T	probably damaging	Het
Adamtsl4	A	G	3: 95,586,896 (GRCm39)		probably null	Het
Agbl2	A	G	2: 90,645,733 (GRCm39)	N822S	probably benign	Het
Ankdd1b	T	A	13: 96,554,255 (GRCm39)		probably benign	Het
Arhgef40	C	T	14: 52,242,395 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,701 (GRCm39)		probably null	Het
Atpsckmt	T	G	15: 31,608,243 (GRCm39)	V98G	probably damaging	Het
Cacna1s	T	C	1: 136,046,390 (GRCm39)		probably benign	Het
Car9	G	A	4: 43,508,616 (GRCm39)	W42*	probably null	Het
Cdh20	T	C	1: 104,862,035 (GRCm39)	Y72H	probably damaging	Het
Ces1g	T	C	8: 94,043,718 (GRCm39)	D407G	possibly damaging	Het
Cngb3	T	A	4: 19,309,562 (GRCm39)	D73E	probably benign	Het
Col6a4	A	T	9: 105,945,451 (GRCm39)	F888I	probably damaging	Het
Dgat2	T	C	7: 98,807,504 (GRCm39)	D222G	probably benign	Het
Dscaml1	T	C	9: 45,583,993 (GRCm39)	M486T	probably benign	Het
Faim2	C	T	15: 99,425,460 (GRCm39)		probably null	Het
Fance	T	C	17: 28,537,293 (GRCm39)		probably benign	Het
Fancm	G	T	12: 65,168,480 (GRCm39)	M1614I	possibly damaging	Het
Fcrl5	A	T	3: 87,351,496 (GRCm39)	N248I	probably damaging	Het
Foxo3	G	A	10: 42,073,774 (GRCm39)	R29W	probably damaging	Het
Gabbr2	A	G	4: 46,718,797 (GRCm39)	Y74H	probably damaging	Het
Gatd1	A	C	7: 140,990,981 (GRCm39)	D55E	probably benign	Het
Gpr152	C	A	19: 4,193,223 (GRCm39)	Q255K	possibly damaging	Het
Havcr1	A	G	11: 46,643,268 (GRCm39)	T63A	probably benign	Het
Hltf	T	C	3: 20,118,865 (GRCm39)		probably null	Het
Ints3	A	G	3: 90,322,828 (GRCm39)	L134S	probably benign	Het
Kcna10	A	G	3: 107,102,217 (GRCm39)	T283A	probably benign	Het
Kmt2e	A	C	5: 23,697,313 (GRCm39)	R590S	probably damaging	Het
Lefty1	A	T	1: 180,765,277 (GRCm39)	N282Y	probably benign	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Lrrn2	T	C	1: 132,866,915 (GRCm39)	V660A	probably benign	Het
Lyst	T	C	13: 13,824,935 (GRCm39)	S1517P	probably benign	Het
Mcoln2	A	G	3: 145,881,468 (GRCm39)	H208R	probably benign	Het
Mdga2	C	T	12: 66,517,775 (GRCm39)		probably benign	Het
Mpp2	T	A	11: 101,955,259 (GRCm39)	E122V	possibly damaging	Het
Mrgprb5	T	C	7: 47,818,526 (GRCm39)	N70D	probably damaging	Het
Muc5ac	A	T	7: 141,343,500 (GRCm39)	E37D	possibly damaging	Het
Nbeal1	T	A	1: 60,274,722 (GRCm39)		probably null	Het
Ncoa6	T	C	2: 155,233,081 (GRCm39)		probably benign	Het
Nfib	C	A	4: 82,422,967 (GRCm39)		probably null	Het
Nostrin	G	T	2: 68,975,156 (GRCm39)	G24*	probably null	Het
Nudc	A	G	4: 133,260,576 (GRCm39)	Y293H	probably damaging	Het
Or51a42	T	A	7: 103,707,940 (GRCm39)	N290Y	probably damaging	Het
Pcmtd1	T	A	1: 7,225,325 (GRCm39)	Y41*	probably null	Het
Pigt	T	C	2: 164,343,544 (GRCm39)	L340P	probably damaging	Het
Pomgnt1	T	C	4: 116,012,972 (GRCm39)	Y420H	probably damaging	Het
Pramel6	C	T	2: 87,341,096 (GRCm39)	T476I	probably benign	Het
Ptprn2	T	A	12: 116,788,016 (GRCm39)	H118Q	possibly damaging	Het
Rasl10a	G	A	11: 5,008,517 (GRCm39)	S71N	probably benign	Het
Rnf213	A	G	11: 119,310,893 (GRCm39)	I804V	probably benign	Het
Rps4l-ps	T	C	7: 114,526,537 (GRCm39)		noncoding transcript	Het
Sash1	T	A	10: 8,605,477 (GRCm39)	H971L	probably benign	Het
Secisbp2	T	A	13: 51,806,768 (GRCm39)	F54L	possibly damaging	Het
Senp1	A	T	15: 97,954,731 (GRCm39)	H484Q	probably benign	Het
Slc12a1	T	C	2: 124,995,913 (GRCm39)	I22T	possibly damaging	Het
Slc25a36	A	G	9: 96,972,172 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,140,731 (GRCm39)	S1443T	probably benign	Het
Sv2c	T	C	13: 96,123,319 (GRCm39)	T385A	probably benign	Het
Tas2r131	T	A	6: 132,933,936 (GRCm39)	H291L	probably damaging	Het
Thbs3	A	G	3: 89,124,147 (GRCm39)	D80G	probably damaging	Het
Tnxb	C	T	17: 34,908,394 (GRCm39)	S1349L	probably damaging	Het
Toporsl	A	G	4: 52,611,996 (GRCm39)	R630G	probably benign	Het
Vmn1r43	C	A	6: 89,846,837 (GRCm39)	M216I	probably benign	Het
Wdr17	T	A	8: 55,092,911 (GRCm39)	E1068D	probably benign	Het
Wnt10a	G	A	1: 74,842,762 (GRCm39)	V413I	probably damaging	Het
Zfp141	T	C	7: 42,126,111 (GRCm39)		probably null	Het
Zfp169	T	C	13: 48,643,634 (GRCm39)	I498V	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
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'- GCGAAGTCCTTTGAACTCCTAC -3'
(R):5'- CTGACACACTTCCGGTTGTC -3'

Sequencing Primer
(F):5'- CTCATCGATTTCCCGGAAGTAGAG -3'
(R):5'- TCCTCAGGTTCATGGTGCCAG -3'

Posted On

2015-10-21