Mutagenetix > Incidental Mutation

Incidental Mutation 'R7016:Tasor2'

545333

Institutional Source

Beutler Lab

Gene Symbol

Tasor2

Ensembl Gene

ENSMUSG00000033799

Gene Name

transcription activation suppressor family member 2

Synonyms

BC016423, Fam208b

MMRRC Submission

045117-MU

Accession Numbers

Essential gene?

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

Stock #

R7016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3616035-3661108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3626857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1031 (V1031E)

Ref Sequence

ENSEMBL: ENSMUSP00000093774 (fasta)

Gene Model

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

AlphaFold

Q5DTT3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096069
AA Change: V1031E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093774
Gene: ENSMUSG00000033799
AA Change: V1031E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,986,843 (GRCm39)	V754D	probably benign	Het
Actn1	T	A	12: 80,219,742 (GRCm39)	M710L	possibly damaging	Het
Adam1a	A	G	5: 121,659,101 (GRCm39)	F64S	probably benign	Het
Aip	G	T	19: 4,171,402 (GRCm39)	D11E	probably benign	Het
Ak7	T	A	12: 105,747,938 (GRCm39)	Y714*	probably null	Het
Amhr2	A	G	15: 102,362,799 (GRCm39)	E522G	possibly damaging	Het
Amotl1	A	G	9: 14,504,995 (GRCm39)	L108P	probably damaging	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Asph	T	C	4: 9,630,604 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,895,185 (GRCm39)	S908P	probably benign	Het
Atp13a3	C	A	16: 30,157,308 (GRCm39)	V903L	possibly damaging	Het
Bcam	G	A	7: 19,492,368 (GRCm39)	R576*	probably null	Het
Btbd2	A	G	10: 80,484,449 (GRCm39)	S141P	probably damaging	Het
Cacna1b	T	C	2: 24,652,860 (GRCm39)	N67S	possibly damaging	Het
Cc2d2b	A	G	19: 40,784,248 (GRCm39)	T872A	possibly damaging	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Cep44	A	T	8: 56,997,234 (GRCm39)	F101L	possibly damaging	Het
Cfap410	T	A	10: 77,818,790 (GRCm39)	C154S	probably benign	Het
Cimap1d	T	C	10: 79,475,790 (GRCm39)	Y258C	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc21	G	T	15: 10,461,493 (GRCm39)	Y152*	probably null	Het
Edem2	A	G	2: 155,557,992 (GRCm39)	F214L	possibly damaging	Het
Fam118b	G	A	9: 35,135,014 (GRCm39)	R198W	probably damaging	Het
Fgb	A	G	3: 82,953,371 (GRCm39)	V133A	probably benign	Het
Fsip2	A	G	2: 82,820,979 (GRCm39)	T5571A	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hnf4a	T	A	2: 163,406,193 (GRCm39)	Y277N	probably damaging	Het
Htatip2	A	G	7: 49,420,583 (GRCm39)	D143G	possibly damaging	Het
Itgae	A	G	11: 73,010,342 (GRCm39)	N611D	probably damaging	Het
Ksr1	A	T	11: 78,918,362 (GRCm39)	N515K	probably damaging	Het
Lrp1	C	A	10: 127,395,836 (GRCm39)		probably null	Het
Map3k20	T	A	2: 72,208,979 (GRCm39)	V195D	probably damaging	Het
Meox2	A	G	12: 37,159,223 (GRCm39)	S132G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nell2	T	A	15: 95,127,032 (GRCm39)	N781I	possibly damaging	Het
Or12d16-ps1	G	A	17: 37,706,094 (GRCm39)	G221D	possibly damaging	Het
Or13a22	A	G	7: 140,073,153 (GRCm39)	T201A	probably benign	Het
Or51m1	A	G	7: 103,578,737 (GRCm39)	I236V	probably benign	Het
Or5e1	A	G	7: 108,354,918 (GRCm39)	N285S	probably damaging	Het
Otoa	A	T	7: 120,746,989 (GRCm39)	Q918L	probably damaging	Het
Palld	T	G	8: 61,969,032 (GRCm39)	K1022T	probably damaging	Het
Parp8	A	T	13: 117,031,627 (GRCm39)	S362T	probably damaging	Het
Phrf1	A	G	7: 140,817,476 (GRCm39)	E95G	probably damaging	Het
Pls1	A	T	9: 95,668,994 (GRCm39)	F76I	probably damaging	Het
Pnp	T	A	14: 51,187,706 (GRCm39)		probably null	Het
Ptdss1	A	C	13: 67,120,685 (GRCm39)	M294L	probably benign	Het
Rictor	T	A	15: 6,804,361 (GRCm39)		probably null	Het
Rilp	A	G	11: 75,401,745 (GRCm39)	E175G	probably damaging	Het
Serpina16	T	A	12: 103,641,630 (GRCm39)	T32S	probably benign	Het
Sim1	C	T	10: 50,860,346 (GRCm39)	S736L	probably benign	Het
Smarcc2	T	G	10: 128,321,198 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,480,368 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,426,098 (GRCm39)	W98R	probably damaging	Het
St8sia3	A	T	18: 64,402,654 (GRCm39)	I98F	probably benign	Het
Taf10	A	T	7: 105,393,205 (GRCm39)		probably null	Het
Tbc1d4	T	A	14: 101,724,877 (GRCm39)	N580I	probably damaging	Het
Trim12c	A	T	7: 103,997,413 (GRCm39)	C48S		Het
Tsc22d1	C	A	14: 76,654,982 (GRCm39)	T405K	probably damaging	Het
Tubgcp5	A	G	7: 55,443,977 (GRCm39)	D2G	possibly damaging	Het
Wwc2	T	C	8: 48,300,583 (GRCm39)	E960G	unknown	Het
Yme1l1	T	A	2: 23,076,367 (GRCm39)		probably null	Het
Zbtb2	G	C	10: 4,318,646 (GRCm39)	P460R	probably damaging	Het
Zfp62	T	G	11: 49,106,764 (GRCm39)	I285S	probably 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
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
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
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'- GTTTGTACCTCTTCCAGTGCGG -3'
(R):5'- ATGATTCTGTCACACAAGCCAC -3'

Sequencing Primer
(F):5'- TCTTCCAGTGCGGACATAGGATAC -3'
(R):5'- CCTTGACCACAGCTTATGATGAGG -3'

Posted On

2019-05-13