Mutagenetix > Incidental Mutation

Incidental Mutation 'R8112:Tasor2'

630949

Institutional Source

Beutler Lab

Gene Symbol

Tasor2

Ensembl Gene

ENSMUSG00000033799

Gene Name

transcription activation suppressor family member 2

Synonyms

BC016423, Fam208b

MMRRC Submission

067541-MU

Accession Numbers

Essential gene?

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

Stock #

R8112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3616035-3661108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3619516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2238 (D2238E)

Ref Sequence

ENSEMBL: ENSMUSP00000093774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059515] [ENSMUST00000096069] [ENSMUST00000223396]

AlphaFold

Q5DTT3

Predicted Effect

probably benign
Transcript: ENSMUST00000059515

SMART Domains

Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218

Domain	Start	End	E-Value	Type
Pfam:GDI	1	436	4.6e-239	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000096069
AA Change: D2238E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093774
Gene: ENSMUSG00000033799
AA Change: D2238E

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

probably benign
Transcript: ENSMUST00000221581

Predicted Effect

probably benign
Transcript: ENSMUST00000223396

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,264,624 (GRCm39)	V3002A	probably benign	Het
Aifm3	T	C	16: 17,320,804 (GRCm39)	V422A	probably damaging	Het
Alx3	G	T	3: 107,512,300 (GRCm39)	E313*	probably null	Het
Arfgef3	A	G	10: 18,528,379 (GRCm39)	V336A	possibly damaging	Het
Art5	A	T	7: 101,747,218 (GRCm39)	V187E	probably benign	Het
Atxn1	A	G	13: 45,721,433 (GRCm39)	V154A	probably benign	Het
B3galt1	A	G	2: 67,948,702 (GRCm39)	D139G	probably damaging	Het
Cbx5	A	G	15: 103,108,171 (GRCm39)	V158A	probably benign	Het
Cdca7l	T	C	12: 117,840,779 (GRCm39)		probably null	Het
Cecr2	T	C	6: 120,739,175 (GRCm39)	S1301P	probably benign	Het
Chmp3	T	A	6: 71,538,012 (GRCm39)	S80T	probably benign	Het
Cyp2g1	T	A	7: 26,518,886 (GRCm39)	D427E	probably benign	Het
Depdc5	G	A	5: 33,126,050 (GRCm39)	V1199I	possibly damaging	Het
Efcab3	T	C	11: 104,841,026 (GRCm39)	V3643A	unknown	Het
Ehmt1	G	T	2: 24,753,396 (GRCm39)	L335M	probably damaging	Het
Elfn2	A	G	15: 78,557,635 (GRCm39)	V304A	probably damaging	Het
Emc1	C	T	4: 139,094,498 (GRCm39)	R684W	probably benign	Het
Eme2	A	T	17: 25,113,809 (GRCm39)	V72E	probably damaging	Het
Gen1	T	A	12: 11,304,374 (GRCm39)	K230*	probably null	Het
Gfap	T	A	11: 102,787,928 (GRCm39)	I6F	probably benign	Het
Grid2	T	C	6: 63,885,891 (GRCm39)	S96P	probably damaging	Het
H2-M2	A	G	17: 37,794,383 (GRCm39)	L13P	unknown	Het
Hps4	T	G	5: 112,517,977 (GRCm39)	C323W	probably benign	Het
Ing3	A	G	6: 21,952,181 (GRCm39)	K52E	probably damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Krt4	T	A	15: 101,828,724 (GRCm39)	N380I	probably damaging	Het
Lrp1	A	T	10: 127,441,715 (GRCm39)	C174S	probably damaging	Het
Lrrc8e	T	C	8: 4,285,575 (GRCm39)	I600T	probably benign	Het
Malt1	T	C	18: 65,582,680 (GRCm39)		probably null	Het
Mindy1	T	C	3: 95,202,122 (GRCm39)	L333P	probably damaging	Het
Mrgprb1	A	G	7: 48,097,682 (GRCm39)	S77P	probably damaging	Het
Mtus2	G	T	5: 148,013,713 (GRCm39)	E169*	probably null	Het
Muc5b	A	G	7: 141,415,765 (GRCm39)	T2904A	possibly damaging	Het
Noxa1	C	T	2: 24,982,553 (GRCm39)		probably null	Het
Ogfod3	G	A	11: 121,095,376 (GRCm39)	R5W	probably damaging	Het
Or4f59	T	A	2: 111,872,982 (GRCm39)	I132F	probably damaging	Het
Or7g35	T	A	9: 19,496,020 (GRCm39)	F62L	probably benign	Het
Or9i16	A	G	19: 13,864,753 (GRCm39)	S274P	probably damaging	Het
Pgm3	C	A	9: 86,446,828 (GRCm39)	R230L	probably benign	Het
Plpbp	A	G	8: 27,536,069 (GRCm39)	I121V	unknown	Het
Prl8a9	T	C	13: 27,743,355 (GRCm39)	D150G	probably benign	Het
Psapl1	A	G	5: 36,362,919 (GRCm39)	N504D	probably benign	Het
Ptchd4	A	C	17: 42,814,066 (GRCm39)	N656H	probably benign	Het
Ptprs	A	T	17: 56,741,532 (GRCm39)	Y577*	probably null	Het
Rasgef1c	A	G	11: 49,858,228 (GRCm39)	Y263C	probably damaging	Het
Rinl	A	G	7: 28,490,014 (GRCm39)		probably null	Het
Scd4	T	C	19: 44,325,945 (GRCm39)	F100L	probably benign	Het
Scgb2b20	T	G	7: 33,063,969 (GRCm39)	R100S	probably benign	Het
Scn8a	C	T	15: 100,927,718 (GRCm39)	A1399V	probably benign	Het
Slc22a7	A	G	17: 46,747,756 (GRCm39)	V267A	probably benign	Het
Slc7a11	T	C	3: 50,372,440 (GRCm39)	E263G	possibly damaging	Het
Slmap	A	G	14: 26,143,703 (GRCm39)	L728P	probably damaging	Het
Smarcb1	A	T	10: 75,745,986 (GRCm39)		probably null	Het
Sspn	T	C	6: 145,901,361 (GRCm39)	V80A	possibly damaging	Het
Terb1	T	C	8: 105,195,399 (GRCm39)	T581A	probably benign	Het
Themis	A	G	10: 28,673,502 (GRCm39)	*596W	probably null	Het
Thoc2l	T	C	5: 104,669,501 (GRCm39)	F1341S	probably benign	Het
Trac	T	C	14: 54,460,557 (GRCm39)		probably benign	Het
Trim37	T	C	11: 87,109,093 (GRCm39)	F940S	possibly damaging	Het
Trpa1	T	C	1: 14,974,490 (GRCm39)	T231A	probably benign	Het
Ttn	T	C	2: 76,580,529 (GRCm39)	I23455V	probably benign	Het
Wap	G	T	11: 6,586,724 (GRCm39)	T125K	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Zfp85	T	C	13: 67,896,893 (GRCm39)	D393G	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
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
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
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'- GGCAACATCAGTGACTCCAC -3'
(R):5'- GCATGTGCCTTTCCTTATGG -3'

Sequencing Primer
(F):5'- TGCAAAGCCTTGGTATCTAGC -3'
(R):5'- GGAAGTCCCTTTATGTCATAACAG -3'

Posted On

2020-06-30