Mutagenetix > Incidental Mutation

Incidental Mutation 'R2513:Tasor2'

253679

Institutional Source

Beutler Lab

Gene Symbol

Tasor2

Ensembl Gene

ENSMUSG00000033799

Gene Name

transcription activation suppressor family member 2

Synonyms

BC016423, Fam208b

MMRRC Submission

040419-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R2513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3616035-3661108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3632150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 784 (L784I)

Ref Sequence

ENSEMBL: ENSMUSP00000093774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096069]

AlphaFold

Q5DTT3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096069
AA Change: L784I

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093774
Gene: ENSMUSG00000033799
AA Change: L784I

Domain	Start	End	E-Value	Type
Pfam:DUF3699	91	167	1.4e-24	PFAM
low complexity region	272	282	N/A	INTRINSIC
low complexity region	447	459	N/A	INTRINSIC
Pfam:DUF3715	533	695	2.3e-25	PFAM
low complexity region	1156	1168	N/A	INTRINSIC
low complexity region	1196	1207	N/A	INTRINSIC
low complexity region	1312	1330	N/A	INTRINSIC
low complexity region	2012	2021	N/A	INTRINSIC
low complexity region	2250	2263	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000222909
AA Change: L212I

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,383,809 (GRCm39)	T719A	possibly damaging	Het
Abcc1	A	G	16: 14,290,873 (GRCm39)		probably null	Het
Aftph	C	T	11: 20,658,676 (GRCm39)		probably null	Het
Als2	C	A	1: 59,254,276 (GRCm39)	K360N	probably benign	Het
Atg2a	T	A	19: 6,308,076 (GRCm39)		probably null	Het
Axl	T	C	7: 25,486,941 (GRCm39)	D22G	probably benign	Het
Baiap2	G	A	11: 119,890,052 (GRCm39)	A438T	probably benign	Het
Bean1	G	C	8: 104,908,643 (GRCm39)	A7P	probably benign	Het
Birc6	C	G	17: 74,954,724 (GRCm39)	P3431R	probably damaging	Het
Camk1d	A	G	2: 5,719,047 (GRCm39)	M1T	probably null	Het
Carmil3	T	C	14: 55,741,295 (GRCm39)	Y1027H	probably damaging	Het
Ccdc6	G	A	10: 70,023,658 (GRCm39)		probably benign	Het
Cemip	C	A	7: 83,591,233 (GRCm39)	V1280L	probably benign	Het
Cfap58	C	A	19: 47,950,981 (GRCm39)	N447K	probably benign	Het
Chd3	A	G	11: 69,251,471 (GRCm39)	L520P	probably damaging	Het
Col1a2	T	A	6: 4,531,223 (GRCm39)		probably null	Het
Cpne7	A	C	8: 123,844,406 (GRCm39)		probably null	Het
Ctla4	T	C	1: 60,951,723 (GRCm39)	V84A	probably damaging	Het
Dap3	A	G	3: 88,835,565 (GRCm39)	V263A	probably benign	Het
Dhx57	T	A	17: 80,549,378 (GRCm39)		probably null	Het
Dlg5	C	A	14: 24,214,593 (GRCm39)	K663N	probably damaging	Het
Dsg3	C	A	18: 20,656,719 (GRCm39)	F196L	possibly damaging	Het
Eif2ak4	C	A	2: 118,257,064 (GRCm39)	D402E	probably damaging	Het
Fance	T	C	17: 28,537,068 (GRCm39)	V24A	probably benign	Het
Fasn	A	T	11: 120,705,574 (GRCm39)	L1149Q	probably damaging	Het
Fcgbpl1	C	G	7: 27,831,060 (GRCm39)	S91C	probably damaging	Het
Flg	T	A	3: 93,187,093 (GRCm39)	S182T	possibly damaging	Het
Gm128	T	A	3: 95,147,293 (GRCm39)	S334C	possibly damaging	Het
Gm3727	A	C	14: 7,264,561 (GRCm38)	H31Q	probably damaging	Het
Gm4841	T	G	18: 60,403,977 (GRCm39)	T39P	probably damaging	Het
Golgb1	G	T	16: 36,735,513 (GRCm39)	V1587L	possibly damaging	Het
Golm1	G	A	13: 59,790,072 (GRCm39)	P243S	probably benign	Het
Gstcd	C	A	3: 132,788,081 (GRCm39)	A206S	possibly damaging	Het
Gstcd	C	A	3: 132,788,082 (GRCm39)	K205N	possibly damaging	Het
Gtf3c1	A	G	7: 125,280,345 (GRCm39)	V355A	probably benign	Het
Hhatl	T	C	9: 121,618,236 (GRCm39)	D173G	probably benign	Het
Kcnu1	T	A	8: 26,395,994 (GRCm39)	C660S	probably benign	Het
Kctd8	T	C	5: 69,267,988 (GRCm39)	D374G	probably benign	Het
Kif21a	T	C	15: 90,878,594 (GRCm39)	I229V	possibly damaging	Het
L3mbtl1	A	T	2: 162,809,505 (GRCm39)	I702F	probably benign	Het
Lce1d	T	C	3: 92,593,066 (GRCm39)		probably benign	Het
Lrig1	C	T	6: 94,594,347 (GRCm39)		probably null	Het
Lrp12	A	T	15: 39,739,507 (GRCm39)	D563E	probably damaging	Het
Lrp2	C	T	2: 69,336,718 (GRCm39)		probably null	Het
Map3k5	G	A	10: 19,970,201 (GRCm39)	V703I	possibly damaging	Het
Mecr	A	G	4: 131,581,076 (GRCm39)	R110G	probably benign	Het
Mtrr	T	A	13: 68,715,092 (GRCm39)	K445*	probably null	Het
Nanos1	T	A	19: 60,744,990 (GRCm39)	L96Q	probably benign	Het
Or13a24	T	G	7: 140,154,069 (GRCm39)	M1R	probably null	Het
Or51t4	T	A	7: 102,598,700 (GRCm39)	F333I	probably benign	Het
Or6c214	T	A	10: 129,591,021 (GRCm39)	L99F	probably damaging	Het
Otog	T	C	7: 45,955,014 (GRCm39)		probably null	Het
Pcdhb3	G	T	18: 37,434,294 (GRCm39)	V87F	probably benign	Het
Pcdhb3	T	A	18: 37,434,292 (GRCm39)	L86*	probably null	Het
Pcdhb3	A	T	18: 37,434,293 (GRCm39)	L86F	probably damaging	Het
Pdgfd	A	G	9: 6,359,894 (GRCm39)	K322E	probably damaging	Het
Picalm	T	C	7: 89,846,217 (GRCm39)	S648P	probably damaging	Het
Pigr	T	C	1: 130,774,357 (GRCm39)	S446P	possibly damaging	Het
Pik3cb	A	C	9: 98,943,895 (GRCm39)	L636W	probably damaging	Het
Pla2g2f	A	T	4: 138,481,473 (GRCm39)	L92Q	probably damaging	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prkar2b	C	T	12: 32,025,928 (GRCm39)	V191I	possibly damaging	Het
Prune1	C	A	3: 95,165,430 (GRCm39)	A281S	probably benign	Het
Ptges3l	A	T	11: 101,314,868 (GRCm39)	C42S	possibly damaging	Het
Reg3b	A	T	6: 78,348,802 (GRCm39)	I33L	probably benign	Het
Rel	A	G	11: 23,695,823 (GRCm39)	I188T	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripor1	G	T	8: 106,344,254 (GRCm39)	V463L	probably benign	Het
Rrm1	T	A	7: 102,109,896 (GRCm39)	D510E	probably damaging	Het
Setd7	A	G	3: 51,440,436 (GRCm39)	S202P	probably damaging	Het
Shank3	T	A	15: 89,432,889 (GRCm39)	D1211E	probably benign	Het
Slc30a1	A	T	1: 191,639,674 (GRCm39)	T186S	possibly damaging	Het
Slc4a4	G	A	5: 89,304,257 (GRCm39)	V523I	probably benign	Het
Slc9a2	T	A	1: 40,781,768 (GRCm39)		probably null	Het
Smg6	A	G	11: 74,820,502 (GRCm39)	T258A	probably damaging	Het
Sptlc1	C	T	13: 53,491,676 (GRCm39)	D408N	possibly damaging	Het
Tbl3	T	C	17: 24,923,524 (GRCm39)		probably null	Het
Tdo2	T	C	3: 81,876,812 (GRCm39)	D139G	possibly damaging	Het
Ticam1	T	A	17: 56,578,612 (GRCm39)	H161L	possibly damaging	Het
Tnfaip3	T	A	10: 18,881,407 (GRCm39)	D293V	probably benign	Het
Trim72	G	A	7: 127,603,878 (GRCm39)	V75M	possibly damaging	Het
Trip11	T	A	12: 101,803,986 (GRCm39)	N1632I	possibly damaging	Het
Tspan18	A	T	2: 93,050,440 (GRCm39)	M61K	possibly damaging	Het
Tuba8	A	T	6: 121,202,932 (GRCm39)	E415V	probably damaging	Het
Ung	A	G	5: 114,275,253 (GRCm39)	H214R	probably benign	Het
Uqcrc1	T	C	9: 108,765,836 (GRCm39)	L17P	probably damaging	Het
Usp24	A	G	4: 106,236,602 (GRCm39)		probably null	Het
Vps39	A	C	2: 120,169,268 (GRCm39)	Y245D	probably damaging	Het
Whrn	T	A	4: 63,353,649 (GRCm39)	T373S	probably benign	Het
Zc2hc1a	C	T	3: 7,581,596 (GRCm39)		probably null	Het

Other mutations in Tasor2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Tasor2	APN	13	3,624,832 (GRCm39)	missense	probably benign
IGL00670:Tasor2	APN	13	3,635,241 (GRCm39)	missense	probably benign	0.14
IGL00957:Tasor2	APN	13	3,627,101 (GRCm39)	missense	possibly damaging	0.86
IGL01311:Tasor2	APN	13	3,625,885 (GRCm39)	missense	possibly damaging	0.85
IGL01318:Tasor2	APN	13	3,625,067 (GRCm39)	missense	possibly damaging	0.66
IGL01767:Tasor2	APN	13	3,626,633 (GRCm39)	missense	probably benign	0.00
IGL02073:Tasor2	APN	13	3,624,721 (GRCm39)	missense	probably benign	0.01
IGL02152:Tasor2	APN	13	3,635,371 (GRCm39)	missense	probably benign
IGL02431:Tasor2	APN	13	3,624,736 (GRCm39)	missense	possibly damaging	0.85
IGL02478:Tasor2	APN	13	3,624,661 (GRCm39)	missense	probably benign	0.12
IGL02732:Tasor2	APN	13	3,623,626 (GRCm39)	missense	probably benign	0.09
IGL02745:Tasor2	APN	13	3,635,140 (GRCm39)	missense	probably benign	0.23
IGL02800:Tasor2	APN	13	3,635,154 (GRCm39)	missense	probably benign
IGL02989:Tasor2	APN	13	3,634,820 (GRCm39)	missense	probably benign	0.01
IGL03124:Tasor2	APN	13	3,624,704 (GRCm39)	missense	probably benign	0.41
IGL03154:Tasor2	APN	13	3,625,255 (GRCm39)	missense	possibly damaging	0.56
IGL03216:Tasor2	APN	13	3,624,553 (GRCm39)	missense	probably damaging	0.98
BB001:Tasor2	UTSW	13	3,644,331 (GRCm39)	missense	possibly damaging	0.92
BB011:Tasor2	UTSW	13	3,644,331 (GRCm39)	missense	possibly damaging	0.92
H8562:Tasor2	UTSW	13	3,627,000 (GRCm39)	missense	probably damaging	0.98
PIT4585001:Tasor2	UTSW	13	3,624,979 (GRCm39)	missense	possibly damaging	0.55
R0016:Tasor2	UTSW	13	3,635,170 (GRCm39)	splice site	probably null
R0016:Tasor2	UTSW	13	3,635,170 (GRCm39)	splice site	probably null
R0157:Tasor2	UTSW	13	3,625,550 (GRCm39)	missense	probably benign	0.06
R0375:Tasor2	UTSW	13	3,646,842 (GRCm39)	missense	possibly damaging	0.85
R0403:Tasor2	UTSW	13	3,632,052 (GRCm39)	nonsense	probably null
R0472:Tasor2	UTSW	13	3,638,364 (GRCm39)	missense	possibly damaging	0.93
R0517:Tasor2	UTSW	13	3,616,964 (GRCm39)	missense	possibly damaging	0.94
R0586:Tasor2	UTSW	13	3,640,321 (GRCm39)	missense	probably damaging	0.99
R0600:Tasor2	UTSW	13	3,626,054 (GRCm39)	missense	probably benign
R0659:Tasor2	UTSW	13	3,624,448 (GRCm39)	missense	probably damaging	0.99
R1257:Tasor2	UTSW	13	3,625,049 (GRCm39)	missense	probably benign	0.25
R1375:Tasor2	UTSW	13	3,626,029 (GRCm39)	missense	probably benign	0.06
R1443:Tasor2	UTSW	13	3,625,543 (GRCm39)	missense	probably benign	0.00
R1497:Tasor2	UTSW	13	3,620,409 (GRCm39)	missense	probably damaging	0.96
R1544:Tasor2	UTSW	13	3,640,413 (GRCm39)	missense	possibly damaging	0.68
R1554:Tasor2	UTSW	13	3,626,374 (GRCm39)	missense	possibly damaging	0.85
R1629:Tasor2	UTSW	13	3,624,121 (GRCm39)	missense	possibly damaging	0.84
R1633:Tasor2	UTSW	13	3,631,771 (GRCm39)	missense	possibly damaging	0.53
R1661:Tasor2	UTSW	13	3,623,860 (GRCm39)	missense	possibly damaging	0.63
R1673:Tasor2	UTSW	13	3,634,498 (GRCm39)	critical splice donor site	probably null
R1675:Tasor2	UTSW	13	3,619,507 (GRCm39)	missense	possibly damaging	0.65
R1781:Tasor2	UTSW	13	3,634,759 (GRCm39)	missense	possibly damaging	0.95
R1792:Tasor2	UTSW	13	3,640,559 (GRCm39)	missense	possibly damaging	0.91
R1826:Tasor2	UTSW	13	3,631,759 (GRCm39)	missense	probably damaging	0.98
R1920:Tasor2	UTSW	13	3,626,612 (GRCm39)	missense	possibly damaging	0.63
R1983:Tasor2	UTSW	13	3,624,853 (GRCm39)	missense	possibly damaging	0.92
R2016:Tasor2	UTSW	13	3,626,770 (GRCm39)	missense	probably benign	0.41
R2017:Tasor2	UTSW	13	3,626,770 (GRCm39)	missense	probably benign	0.41
R2220:Tasor2	UTSW	13	3,631,872 (GRCm39)	missense	probably benign	0.00
R2898:Tasor2	UTSW	13	3,635,122 (GRCm39)	missense	possibly damaging	0.82
R2904:Tasor2	UTSW	13	3,632,185 (GRCm39)	missense	possibly damaging	0.53
R3149:Tasor2	UTSW	13	3,624,359 (GRCm39)	missense	probably damaging	0.98
R3623:Tasor2	UTSW	13	3,645,556 (GRCm39)	missense	probably benign
R3624:Tasor2	UTSW	13	3,645,556 (GRCm39)	missense	probably benign
R3725:Tasor2	UTSW	13	3,640,538 (GRCm39)	missense	probably benign	0.33
R3835:Tasor2	UTSW	13	3,625,292 (GRCm39)	missense	probably benign	0.01
R3890:Tasor2	UTSW	13	3,646,785 (GRCm39)	missense	probably damaging	0.96
R4023:Tasor2	UTSW	13	3,634,554 (GRCm39)	missense	probably damaging	0.99
R4024:Tasor2	UTSW	13	3,634,554 (GRCm39)	missense	probably damaging	0.99
R4025:Tasor2	UTSW	13	3,634,554 (GRCm39)	missense	probably damaging	0.99
R4050:Tasor2	UTSW	13	3,623,507 (GRCm39)	missense	probably benign	0.09
R4308:Tasor2	UTSW	13	3,619,498 (GRCm39)	missense	probably damaging	0.97
R4484:Tasor2	UTSW	13	3,631,831 (GRCm39)	missense	probably benign	0.12
R4674:Tasor2	UTSW	13	3,623,686 (GRCm39)	missense	possibly damaging	0.69
R4718:Tasor2	UTSW	13	3,624,495 (GRCm39)	missense	probably benign	0.00
R4745:Tasor2	UTSW	13	3,640,069 (GRCm39)	missense	probably benign	0.26
R4776:Tasor2	UTSW	13	3,620,391 (GRCm39)	missense	probably damaging	1.00
R4839:Tasor2	UTSW	13	3,634,807 (GRCm39)	missense	probably damaging	0.96
R4855:Tasor2	UTSW	13	3,616,680 (GRCm39)	splice site	probably null
R5049:Tasor2	UTSW	13	3,624,000 (GRCm39)	missense	probably benign	0.00
R5076:Tasor2	UTSW	13	3,626,357 (GRCm39)	missense	probably benign	0.41
R5287:Tasor2	UTSW	13	3,625,744 (GRCm39)	missense	probably benign	0.41
R5298:Tasor2	UTSW	13	3,645,613 (GRCm39)	splice site	probably null
R5379:Tasor2	UTSW	13	3,638,496 (GRCm39)	missense	probably benign	0.41
R5512:Tasor2	UTSW	13	3,645,517 (GRCm39)	missense	probably damaging	0.99
R5624:Tasor2	UTSW	13	3,634,996 (GRCm39)	missense	possibly damaging	0.66
R5750:Tasor2	UTSW	13	3,623,642 (GRCm39)	nonsense	probably null
R6114:Tasor2	UTSW	13	3,640,081 (GRCm39)	missense	probably damaging	1.00
R6118:Tasor2	UTSW	13	3,631,891 (GRCm39)	missense	possibly damaging	0.76
R6119:Tasor2	UTSW	13	3,631,891 (GRCm39)	missense	possibly damaging	0.76
R6269:Tasor2	UTSW	13	3,631,891 (GRCm39)	missense	possibly damaging	0.76
R6270:Tasor2	UTSW	13	3,631,891 (GRCm39)	missense	possibly damaging	0.76
R6271:Tasor2	UTSW	13	3,631,891 (GRCm39)	missense	possibly damaging	0.76
R6272:Tasor2	UTSW	13	3,631,891 (GRCm39)	missense	possibly damaging	0.76
R6525:Tasor2	UTSW	13	3,626,540 (GRCm39)	nonsense	probably null
R6550:Tasor2	UTSW	13	3,640,519 (GRCm39)	missense	possibly damaging	0.85
R6714:Tasor2	UTSW	13	3,644,189 (GRCm39)	missense	probably benign	0.00
R6797:Tasor2	UTSW	13	3,626,769 (GRCm39)	missense	probably benign	0.26
R6967:Tasor2	UTSW	13	3,624,819 (GRCm39)	missense	probably benign	0.22
R7016:Tasor2	UTSW	13	3,626,857 (GRCm39)	missense	possibly damaging	0.92
R7219:Tasor2	UTSW	13	3,640,521 (GRCm39)	missense	probably damaging	0.99
R7454:Tasor2	UTSW	13	3,635,332 (GRCm39)	missense	probably benign	0.21
R7570:Tasor2	UTSW	13	3,623,621 (GRCm39)	missense	probably damaging	0.99
R7571:Tasor2	UTSW	13	3,625,292 (GRCm39)	missense	probably benign	0.01
R7580:Tasor2	UTSW	13	3,624,752 (GRCm39)	missense	probably damaging	0.99
R7587:Tasor2	UTSW	13	3,618,849 (GRCm39)	missense	possibly damaging	0.83
R7657:Tasor2	UTSW	13	3,623,777 (GRCm39)	missense	probably damaging	0.98
R7810:Tasor2	UTSW	13	3,625,714 (GRCm39)	missense	possibly damaging	0.61
R7909:Tasor2	UTSW	13	3,623,765 (GRCm39)	missense	possibly damaging	0.93
R7924:Tasor2	UTSW	13	3,644,331 (GRCm39)	missense	possibly damaging	0.92
R7945:Tasor2	UTSW	13	3,626,085 (GRCm39)	missense	probably benign
R8005:Tasor2	UTSW	13	3,625,681 (GRCm39)	missense	probably benign
R8067:Tasor2	UTSW	13	3,619,602 (GRCm39)	missense	probably benign
R8112:Tasor2	UTSW	13	3,619,516 (GRCm39)	missense	probably damaging	1.00
R8162:Tasor2	UTSW	13	3,649,691 (GRCm39)	missense	probably damaging	0.96
R8170:Tasor2	UTSW	13	3,624,881 (GRCm39)	nonsense	probably null
R8240:Tasor2	UTSW	13	3,624,388 (GRCm39)	missense	probably benign
R8263:Tasor2	UTSW	13	3,640,016 (GRCm39)	missense	probably benign	0.03
R8263:Tasor2	UTSW	13	3,625,286 (GRCm39)	missense	possibly damaging	0.70
R8477:Tasor2	UTSW	13	3,625,079 (GRCm39)	missense	probably benign	0.18
R9022:Tasor2	UTSW	13	3,626,659 (GRCm39)	missense	probably benign
R9140:Tasor2	UTSW	13	3,638,441 (GRCm39)	missense	probably benign	0.04
R9167:Tasor2	UTSW	13	3,624,724 (GRCm39)	missense	probably benign
R9527:Tasor2	UTSW	13	3,635,191 (GRCm39)	missense	possibly damaging	0.61
R9535:Tasor2	UTSW	13	3,623,559 (GRCm39)	missense	possibly damaging	0.69
R9711:Tasor2	UTSW	13	3,649,667 (GRCm39)	missense	probably benign
X0024:Tasor2	UTSW	13	3,649,837 (GRCm39)	missense	probably null	0.99
X0025:Tasor2	UTSW	13	3,626,827 (GRCm39)	missense	probably benign	0.15
X0066:Tasor2	UTSW	13	3,638,441 (GRCm39)	missense	probably benign	0.04
Z1176:Tasor2	UTSW	13	3,638,429 (GRCm39)	missense	probably damaging	0.98
Z1176:Tasor2	UTSW	13	3,626,636 (GRCm39)	missense	probably benign	0.01
Z1177:Tasor2	UTSW	13	3,624,234 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAGAGGGTCTTTCCACATTGG -3'
(R):5'- AAGACTGTTTCCAGACTGTGTTTG -3'

Sequencing Primer
(F):5'- GGAAAAGGCCTCAATTTCACTGTG -3'
(R):5'- GTCAAGAGACTCAGCTGTTCTTC -3'

Posted On

2014-12-04