Mutagenetix > Incidental Mutation

Incidental Mutation 'R0586:Tasor2'

55778

Institutional Source

Beutler Lab

Gene Symbol

Tasor2

Ensembl Gene

ENSMUSG00000033799

Gene Name

transcription activation suppressor family member 2

Synonyms

BC016423, Fam208b

MMRRC Submission

038776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3616035-3661108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3640321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 272 (L272P)

Ref Sequence

ENSEMBL: ENSMUSP00000093774 (fasta)

Gene Model

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

AlphaFold

Q5DTT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000096069
AA Change: L272P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093774
Gene: ENSMUSG00000033799
AA Change: L272P

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

noncoding transcript
Transcript: ENSMUST00000222041

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.5%
20x: 94.4%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,092,860 (GRCm39)	V308E	probably benign	Het
Amy1	A	G	3: 113,356,418 (GRCm39)		probably benign	Het
Astn2	C	T	4: 66,103,379 (GRCm39)	V345M	unknown	Het
Brwd1	T	C	16: 95,844,286 (GRCm39)	E756G	probably damaging	Het
Ccpg1	C	T	9: 72,909,103 (GRCm39)	L135F	probably benign	Het
Cecr2	C	T	6: 120,734,845 (GRCm39)	H694Y	probably damaging	Het
Cfh	G	A	1: 140,110,920 (GRCm39)	T14I	probably damaging	Het
Cfhr2	G	A	1: 139,741,172 (GRCm39)	R268*	probably null	Het
Clca3a1	T	A	3: 144,738,350 (GRCm39)	I53L	probably benign	Het
Clcn6	A	G	4: 148,123,206 (GRCm39)		probably benign	Het
Cnfn	C	T	7: 25,067,256 (GRCm39)	V98I	probably benign	Het
Cntnap1	C	T	11: 101,077,840 (GRCm39)	R1122W	probably damaging	Het
Cpne9	A	T	6: 113,272,024 (GRCm39)	E384V	probably damaging	Het
Ctr9	T	C	7: 110,648,705 (GRCm39)		probably benign	Het
Ctsj	T	A	13: 61,151,515 (GRCm39)		probably benign	Het
Cyp2c39	A	C	19: 39,501,934 (GRCm39)		probably benign	Het
Dock5	A	C	14: 68,046,481 (GRCm39)	I767S	probably damaging	Het
Eftud2	T	C	11: 102,737,446 (GRCm39)	T552A	probably damaging	Het
Epdr1	A	G	13: 19,778,715 (GRCm39)	I25T	probably damaging	Het
Fcgbp	A	T	7: 27,789,138 (GRCm39)	D568V	probably damaging	Het
Fcgbpl1	T	A	7: 27,836,516 (GRCm39)	V145D	probably damaging	Het
Fhip1b	T	C	7: 105,038,654 (GRCm39)	E195G	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fuz	T	C	7: 44,547,982 (GRCm39)	V183A	possibly damaging	Het
Grb7	T	C	11: 98,344,046 (GRCm39)	S284P	probably damaging	Het
Hoxb4	G	T	11: 96,209,713 (GRCm39)	G40C	probably damaging	Het
Kcnn1	T	C	8: 71,316,513 (GRCm39)		probably benign	Het
Kmt2d	C	A	15: 98,733,088 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,203,732 (GRCm39)	V366A	unknown	Het
Ldlr	G	A	9: 21,651,040 (GRCm39)	R486H	probably benign	Het
Lnpep	A	T	17: 17,795,658 (GRCm39)		probably benign	Het
Mical3	A	T	6: 121,006,602 (GRCm39)		probably benign	Het
Myh15	T	C	16: 48,992,250 (GRCm39)		probably benign	Het
Nup155	T	A	15: 8,159,716 (GRCm39)	H542Q	probably benign	Het
Opn4	A	G	14: 34,320,930 (GRCm39)		probably benign	Het
Or13a20	T	C	7: 140,231,976 (GRCm39)	F28S	probably benign	Het
Or4a68	T	A	2: 89,269,698 (GRCm39)	R308S	possibly damaging	Het
Or6c68	A	G	10: 129,157,916 (GRCm39)	I141M	probably benign	Het
Or8g4	A	T	9: 39,662,414 (GRCm39)	H244L	probably damaging	Het
Or8h10	T	C	2: 86,809,126 (GRCm39)	N5D	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Parp14	T	C	16: 35,661,382 (GRCm39)	K1522R	probably benign	Het
Pkhd1	A	T	1: 20,594,335 (GRCm39)	D1259E	probably benign	Het
Pogz	C	T	3: 94,786,664 (GRCm39)	A1084V	probably damaging	Het
Popdc3	G	A	10: 45,191,359 (GRCm39)	V157M	probably benign	Het
Prrt4	T	C	6: 29,171,183 (GRCm39)	Y423C	probably damaging	Het
Qrich1	C	T	9: 108,411,719 (GRCm39)	H415Y	probably damaging	Het
Rabgap1	A	G	2: 37,433,235 (GRCm39)	N801D	probably benign	Het
Rb1	A	G	14: 73,525,124 (GRCm39)		probably benign	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Ryr2	T	C	13: 11,650,445 (GRCm39)	D356G	probably null	Het
Skint8	C	G	4: 111,794,126 (GRCm39)	P172R	probably damaging	Het
Slc12a8	T	G	16: 33,478,600 (GRCm39)	M643R	possibly damaging	Het
Sult1c2	A	T	17: 54,271,113 (GRCm39)		probably benign	Het
Tcaf1	T	A	6: 42,650,473 (GRCm39)	M869L	probably damaging	Het
Tecpr1	T	C	5: 144,154,219 (GRCm39)	N78S	probably damaging	Het
Tectb	A	T	19: 55,170,356 (GRCm39)	Y69F	probably damaging	Het
Them4	A	T	3: 94,237,101 (GRCm39)	N187I	possibly damaging	Het
Tm9sf3	A	G	19: 41,244,582 (GRCm39)		probably null	Het
Tnik	G	T	3: 28,631,510 (GRCm39)		probably benign	Het
Tns2	G	T	15: 102,018,020 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,891,118 (GRCm39)	D487G	probably damaging	Het
Trim33	T	A	3: 103,217,660 (GRCm39)	C202S	probably damaging	Het
Trpm2	T	A	10: 77,759,350 (GRCm39)	I1145F	probably damaging	Het
Trpv2	A	G	11: 62,483,596 (GRCm39)	T478A	probably benign	Het
Ube2e3	T	C	2: 78,750,334 (GRCm39)	Y187H	probably benign	Het
Ubxn11	A	G	4: 133,836,963 (GRCm39)	R64G	possibly damaging	Het
Wwtr1	T	C	3: 57,366,487 (GRCm39)	T407A	probably damaging	Het
Zfyve26	A	T	12: 79,315,502 (GRCm39)	S1325T	possibly damaging	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
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
R2513:Tasor2	UTSW	13	3,632,150 (GRCm39)	missense	possibly damaging	0.53
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'- ACCCGCTTACTTGGCAGTGTAAC -3'
(R):5'- CTTTGATGGCCCCTCCTCAAGATG -3'

Sequencing Primer
(F):5'- GGAGTCACAGCTTTCTTCTTCAC -3'
(R):5'- CCTCCTCAAGATGGAGTGGAAG -3'

Posted On

2013-07-11