Mutagenetix > Incidental Mutation

Incidental Mutation 'R1497:Tasor2'

168990

Institutional Source

Beutler Lab

Gene Symbol

Tasor2

Ensembl Gene

ENSMUSG00000033799

Gene Name

transcription activation suppressor family member 2

Synonyms

BC016423, Fam208b

MMRRC Submission

039548-MU

Accession Numbers

Essential gene?

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

Stock #

R1497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3616035-3661108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3620409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2164 (E2164G)

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: E2164G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093774
Gene: ENSMUSG00000033799
AA Change: E2164G

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: ENSMUST00000221059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222615

Predicted Effect

unknown
Transcript: ENSMUST00000222909
AA Change: E1482G

Predicted Effect

probably benign
Transcript: ENSMUST00000223396

Meta Mutation Damage Score

0.1755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.4%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,864,647 (GRCm39)		probably benign	Het
Abhd17a	A	G	10: 80,420,164 (GRCm39)		probably benign	Het
Acacb	G	A	5: 114,334,868 (GRCm39)	E646K	probably damaging	Het
Afap1l2	T	C	19: 56,916,743 (GRCm39)	M262V	probably benign	Het
Anapc7	T	A	5: 122,573,578 (GRCm39)		probably benign	Het
Car5b	T	A	X: 162,771,400 (GRCm39)	K188N	probably benign	Het
Caskin1	C	T	17: 24,723,515 (GRCm39)	R768*	probably null	Het
Casp8ap2	T	C	4: 32,639,938 (GRCm39)	S331P	probably benign	Het
Ccdc68	C	T	18: 70,093,585 (GRCm39)		probably benign	Het
Cd44	A	T	2: 102,673,300 (GRCm39)		probably null	Het
Celsr3	A	G	9: 108,726,064 (GRCm39)	S3090G	probably benign	Het
Clasp1	A	T	1: 118,479,788 (GRCm39)	M1023L	probably benign	Het
Clec16a	T	C	16: 10,453,123 (GRCm39)	F608S	probably damaging	Het
Col7a1	A	C	9: 108,807,893 (GRCm39)	E2531A	unknown	Het
Ctc1	T	A	11: 68,913,387 (GRCm39)	C128S	probably benign	Het
Cyp2d41-ps	T	C	15: 82,666,223 (GRCm39)		noncoding transcript	Het
Cyp2j6	T	A	4: 96,419,898 (GRCm39)	I278F	probably damaging	Het
Dhtkd1	A	T	2: 5,908,924 (GRCm39)	S723R	probably damaging	Het
Dhx8	A	G	11: 101,626,213 (GRCm39)		probably benign	Het
Dnah17	A	T	11: 118,005,059 (GRCm39)	L775Q	probably damaging	Het
Dnah8	C	A	17: 30,971,049 (GRCm39)	T2701K	probably damaging	Het
Eml3	T	A	19: 8,913,733 (GRCm39)	S424R	probably damaging	Het
Epm2aip1	A	G	9: 111,101,315 (GRCm39)	E96G	possibly damaging	Het
Ezr	T	C	17: 7,010,107 (GRCm39)	H314R	probably benign	Het
Fam193b	G	T	13: 55,702,247 (GRCm39)	H43Q	probably damaging	Het
Fam217a	T	A	13: 35,095,195 (GRCm39)	N340I	probably damaging	Het
Fcrl1	A	T	3: 87,292,109 (GRCm39)	Q89H	probably damaging	Het
Flg2	A	T	3: 93,127,076 (GRCm39)	H1996L	unknown	Het
Gabpb1	C	T	2: 126,481,169 (GRCm39)	V327M	possibly damaging	Het
Gtf3c3	A	G	1: 54,477,098 (GRCm39)	V36A	probably benign	Het
Hspg2	A	G	4: 137,275,407 (GRCm39)	N2739S	probably damaging	Het
Hyal1	A	G	9: 107,455,194 (GRCm39)		probably null	Het
Ipo13	T	C	4: 117,761,856 (GRCm39)	D448G	probably benign	Het
Kcnq5	T	C	1: 21,472,610 (GRCm39)	D860G	possibly damaging	Het
Kif13b	A	G	14: 64,973,715 (GRCm39)	N355S	probably damaging	Het
Kmt2c	T	A	5: 25,519,513 (GRCm39)	H2199L	possibly damaging	Het
Magi1	A	G	6: 93,724,310 (GRCm39)	F235S	probably damaging	Het
Maml1	A	C	11: 50,156,534 (GRCm39)	M547R	possibly damaging	Het
Mapk7	T	C	11: 61,384,689 (GRCm39)	K6E	possibly damaging	Het
Mbd5	T	A	2: 49,147,393 (GRCm39)	N534K	possibly damaging	Het
Mcat	G	A	15: 83,433,453 (GRCm39)	Q34*	probably null	Het
Mcu	T	A	10: 59,284,670 (GRCm39)	D180V	probably damaging	Het
Mettl21c	G	T	1: 44,048,951 (GRCm39)	P199T	probably benign	Het
Mndal	A	T	1: 173,700,441 (GRCm39)	S177T	probably benign	Het
Mpeg1	G	T	19: 12,438,611 (GRCm39)	C23F	probably benign	Het
Mup15	T	A	4: 61,356,471 (GRCm39)	Y98F	probably benign	Het
Myh8	T	C	11: 67,180,638 (GRCm39)	S625P	probably benign	Het
Nipsnap2	T	C	5: 129,830,282 (GRCm39)		probably benign	Het
Nlrp4e	T	C	7: 23,019,797 (GRCm39)	S95P	probably benign	Het
Or1e19	T	A	11: 73,316,653 (GRCm39)	D52V	possibly damaging	Het
Or4a66	T	C	2: 88,531,106 (GRCm39)	D189G	probably damaging	Het
Otop2	A	G	11: 115,220,675 (GRCm39)		probably null	Het
Pcnx4	G	C	12: 72,621,174 (GRCm39)	G998A	probably benign	Het
Pnkd	C	A	1: 74,390,681 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,573,204 (GRCm39)	V701E	probably benign	Het
Ryr2	A	G	13: 11,616,727 (GRCm39)	I3897T	probably damaging	Het
Scn1a	T	C	2: 66,162,631 (GRCm39)	E205G	probably damaging	Het
Sdk2	G	A	11: 113,784,401 (GRCm39)		probably benign	Het
Serpinb5	A	T	1: 106,803,782 (GRCm39)	Q156L	probably benign	Het
Setdb1	A	T	3: 95,234,778 (GRCm39)	V975D	probably benign	Het
Shc1	A	G	3: 89,335,752 (GRCm39)	*470W	probably null	Het
Sik3	T	A	9: 46,113,320 (GRCm39)	V587E	probably damaging	Het
Sik3	C	A	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Spata7	T	C	12: 98,635,120 (GRCm39)	I384T	probably damaging	Het
Tanc2	T	A	11: 105,812,963 (GRCm39)	V1469D	probably benign	Het
Tdrd5	A	T	1: 156,083,372 (GRCm39)	N888K	probably benign	Het
Tex22	T	C	12: 113,039,000 (GRCm39)	S34P	probably benign	Het
Tmed6	T	C	8: 107,790,754 (GRCm39)	T98A	probably benign	Het
Trim66	G	A	7: 109,083,826 (GRCm39)	P141L	probably benign	Het
Trpa1	T	C	1: 14,956,036 (GRCm39)	I778V	probably benign	Het
Urb2	T	A	8: 124,754,816 (GRCm39)	H174Q	probably damaging	Het
Usb1	T	C	8: 96,065,325 (GRCm39)	V59A	probably benign	Het
Vmn1r11	T	A	6: 57,114,394 (GRCm39)	N19K	probably damaging	Het
Vmn1r185	A	T	7: 26,311,219 (GRCm39)	F95L	probably benign	Het
Vmn1r206	C	T	13: 22,805,160 (GRCm39)	V16M	probably benign	Het
Vmn2r92	T	C	17: 18,387,625 (GRCm39)	V210A	probably benign	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Zfp768	T	A	7: 126,942,733 (GRCm39)	Q465L	probably damaging	Het
Zfp804b	T	A	5: 6,821,105 (GRCm39)	N617Y	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
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'- CTGCCCTACAGAACCTGCATGATTC -3'
(R):5'- GTACctgggcatagtggcacatac -3'

Sequencing Primer
(F):5'- CAATGGAAGTCTGTCGGCTATAC -3'
(R):5'- agcacttggaggcatagac -3'

Posted On

2014-04-13