Mutagenetix > Incidental Mutation

Incidental Mutation 'R5200:Tasor'

400722

Institutional Source

Beutler Lab

Gene Symbol

Tasor

Ensembl Gene

ENSMUSG00000040651

Gene Name

transcription activation suppressor

Synonyms

D14Abb1e, Fam208a, 4933409E02Rik, MommeD6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5200 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

27150791-27205512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27151183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 53 (E53G)

Ref Sequence

ENSEMBL: ENSMUSP00000022450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022450]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022450
AA Change: E53G

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: E53G

Domain	Start	End	E-Value	Type
low complexity region	20	27	N/A	INTRINSIC
low complexity region	42	61	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
Pfam:DUF3715	153	314	1.5e-55	PFAM
low complexity region	442	457	N/A	INTRINSIC
low complexity region	1087	1102	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for ENU mutations are not viable past gastrulation. [provided by MGI curators]

Allele List at MGI

All alleles(26) : Gene trapped(26)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,010,734 (GRCm39)	V497A	probably benign	Het
Alx3	T	C	3: 107,507,980 (GRCm39)	F163S	possibly damaging	Het
Ankmy1	T	C	1: 92,798,014 (GRCm39)	R997G	probably benign	Het
Arfgef2	T	C	2: 166,702,604 (GRCm39)	S848P	probably benign	Het
Atp11b	A	G	3: 35,891,156 (GRCm39)	I810V	probably benign	Het
C1ql4	T	G	15: 98,982,718 (GRCm39)	I212L	probably benign	Het
Cep63	T	C	9: 102,475,387 (GRCm39)	Y443C	probably benign	Het
Cfap45	C	T	1: 172,372,696 (GRCm39)	Q464*	probably null	Het
Clcn3	T	C	8: 61,376,039 (GRCm39)	K618R	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnaaf4	T	C	9: 72,879,713 (GRCm39)	S418P	probably damaging	Het
H2-M10.2	T	G	17: 36,595,641 (GRCm39)	R216S	probably benign	Het
Hook1	A	G	4: 95,881,367 (GRCm39)	D113G	probably damaging	Het
Ift122	A	G	6: 115,897,340 (GRCm39)	E914G	probably damaging	Het
Insr	A	G	8: 3,248,059 (GRCm39)		probably null	Het
Itpr2	A	T	6: 146,045,605 (GRCm39)		probably null	Het
Myo6	C	T	9: 80,183,656 (GRCm39)	Q684*	probably null	Het
Nrde2	T	A	12: 100,096,756 (GRCm39)	I1015F	possibly damaging	Het
Or12e9	T	A	2: 87,202,446 (GRCm39)	V190E	probably damaging	Het
Or2d4	G	A	7: 106,544,187 (GRCm39)	T7I	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pappa	A	T	4: 65,074,076 (GRCm39)	N210I	probably damaging	Het
Pax4	G	A	6: 28,445,138 (GRCm39)	P179L	probably damaging	Het
Pcx	G	A	19: 4,668,532 (GRCm39)	D656N	probably damaging	Het
Pms1	T	A	1: 53,245,916 (GRCm39)	H541L	probably benign	Het
Pten	C	T	19: 32,777,291 (GRCm39)	P95L	probably damaging	Het
Rsrc2	G	A	5: 123,877,562 (GRCm39)	R140*	probably null	Het
Shc3	T	C	13: 51,670,601 (GRCm39)	M49V	probably damaging	Het
Snap91	C	G	9: 86,697,497 (GRCm39)	K288N	probably damaging	Het
Spag17	C	T	3: 99,970,787 (GRCm39)	Q1324*	probably null	Het
Tfr2	A	G	5: 137,569,242 (GRCm39)		probably benign	Het
Tgfbrap1	A	T	1: 43,114,803 (GRCm39)	I99K	probably damaging	Het
Tmem38a	T	A	8: 73,333,878 (GRCm39)	V119E	probably damaging	Het
Tmtc4	T	G	14: 123,182,969 (GRCm39)	D243A	probably benign	Het
Tnc	A	T	4: 63,889,515 (GRCm39)	S1755T	probably damaging	Het
Trim67	T	C	8: 125,551,589 (GRCm39)	S590P	probably damaging	Het
Ttn	T	A	2: 76,590,287 (GRCm39)	T12814S	probably damaging	Het
Uspl1	T	A	5: 149,150,923 (GRCm39)	S708T	probably benign	Het
Vmn2r69	A	T	7: 85,055,717 (GRCm39)	F807Y	probably damaging	Het
Vmn2r97	C	T	17: 19,148,615 (GRCm39)	P170L	probably damaging	Het
Zfp612	C	T	8: 110,816,532 (GRCm39)	Q580*	probably null	Het

Other mutations in Tasor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Tasor	APN	14	27,170,163 (GRCm39)	missense	probably damaging	1.00
IGL00467:Tasor	APN	14	27,170,121 (GRCm39)	missense	probably benign	0.02
IGL01071:Tasor	APN	14	27,164,579 (GRCm39)	critical splice donor site	probably null
IGL01351:Tasor	APN	14	27,186,258 (GRCm39)	missense	probably benign	0.02
IGL01375:Tasor	APN	14	27,162,120 (GRCm39)	missense	probably damaging	1.00
IGL01509:Tasor	APN	14	27,181,731 (GRCm39)	splice site	probably benign
IGL02342:Tasor	APN	14	27,198,624 (GRCm39)	missense	possibly damaging	0.83
IGL03105:Tasor	APN	14	27,164,509 (GRCm39)	missense	probably damaging	0.98
IGL03131:Tasor	APN	14	27,183,136 (GRCm39)	nonsense	probably null
IGL03248:Tasor	APN	14	27,198,649 (GRCm39)	missense	probably damaging	1.00
IGL03383:Tasor	APN	14	27,163,918 (GRCm39)	missense	possibly damaging	0.93
balsam	UTSW	14	27,183,107 (GRCm39)	missense	probably benign	0.01
santa_rosa	UTSW	14	27,198,658 (GRCm39)	splice site	probably null
D4043:Tasor	UTSW	14	27,193,949 (GRCm39)	missense	probably benign	0.07
R0147:Tasor	UTSW	14	27,193,725 (GRCm39)	missense	probably benign	0.23
R0512:Tasor	UTSW	14	27,168,363 (GRCm39)	missense	probably damaging	1.00
R0589:Tasor	UTSW	14	27,183,107 (GRCm39)	missense	probably benign	0.01
R0609:Tasor	UTSW	14	27,183,707 (GRCm39)	missense	probably benign	0.09
R0798:Tasor	UTSW	14	27,198,593 (GRCm39)	missense	probably damaging	1.00
R1107:Tasor	UTSW	14	27,201,680 (GRCm39)	nonsense	probably null
R1205:Tasor	UTSW	14	27,183,275 (GRCm39)	missense	probably damaging	1.00
R1376:Tasor	UTSW	14	27,151,338 (GRCm39)	missense	probably benign	0.00
R1376:Tasor	UTSW	14	27,151,338 (GRCm39)	missense	probably benign	0.00
R1441:Tasor	UTSW	14	27,186,217 (GRCm39)	nonsense	probably null
R1493:Tasor	UTSW	14	27,171,926 (GRCm39)	missense	probably damaging	1.00
R1527:Tasor	UTSW	14	27,202,050 (GRCm39)	critical splice donor site	probably null
R1729:Tasor	UTSW	14	27,201,590 (GRCm39)	missense	probably damaging	1.00
R1752:Tasor	UTSW	14	27,193,885 (GRCm39)	nonsense	probably null
R1960:Tasor	UTSW	14	27,201,746 (GRCm39)	missense	possibly damaging	0.95
R1960:Tasor	UTSW	14	27,160,621 (GRCm39)	missense	probably damaging	1.00
R1965:Tasor	UTSW	14	27,164,511 (GRCm39)	missense	probably damaging	1.00
R2074:Tasor	UTSW	14	27,183,170 (GRCm39)	missense	probably benign	0.03
R2107:Tasor	UTSW	14	27,183,744 (GRCm39)	critical splice donor site	probably null
R2130:Tasor	UTSW	14	27,198,571 (GRCm39)	missense	possibly damaging	0.74
R2130:Tasor	UTSW	14	27,168,345 (GRCm39)	missense	probably damaging	1.00
R2131:Tasor	UTSW	14	27,198,571 (GRCm39)	missense	possibly damaging	0.74
R2133:Tasor	UTSW	14	27,198,571 (GRCm39)	missense	possibly damaging	0.74
R2140:Tasor	UTSW	14	27,201,992 (GRCm39)	missense	probably damaging	1.00
R2184:Tasor	UTSW	14	27,188,141 (GRCm39)	missense	possibly damaging	0.83
R2279:Tasor	UTSW	14	27,164,452 (GRCm39)	missense	probably damaging	1.00
R3979:Tasor	UTSW	14	27,199,087 (GRCm39)	missense	possibly damaging	0.95
R4113:Tasor	UTSW	14	27,181,918 (GRCm39)	nonsense	probably null
R4434:Tasor	UTSW	14	27,171,818 (GRCm39)	critical splice donor site	probably null
R4562:Tasor	UTSW	14	27,188,265 (GRCm39)	missense	possibly damaging	0.67
R4568:Tasor	UTSW	14	27,198,658 (GRCm39)	splice site	probably null
R4754:Tasor	UTSW	14	27,183,052 (GRCm39)	missense	probably benign
R4980:Tasor	UTSW	14	27,183,382 (GRCm39)	missense	probably benign	0.39
R4993:Tasor	UTSW	14	27,151,071 (GRCm39)	missense	possibly damaging	0.88
R5316:Tasor	UTSW	14	27,193,992 (GRCm39)	missense	possibly damaging	0.52
R5599:Tasor	UTSW	14	27,201,886 (GRCm39)	missense	probably benign	0.01
R5678:Tasor	UTSW	14	27,151,080 (GRCm39)	small insertion	probably benign
R5680:Tasor	UTSW	14	27,151,080 (GRCm39)	small insertion	probably benign
R5887:Tasor	UTSW	14	27,188,254 (GRCm39)	nonsense	probably null
R6181:Tasor	UTSW	14	27,194,235 (GRCm39)	missense	probably benign	0.01
R6556:Tasor	UTSW	14	27,151,215 (GRCm39)	missense	probably benign
R6603:Tasor	UTSW	14	27,168,343 (GRCm39)	missense	probably damaging	1.00
R6829:Tasor	UTSW	14	27,164,438 (GRCm39)	missense	possibly damaging	0.90
R6864:Tasor	UTSW	14	27,183,115 (GRCm39)	missense	probably damaging	0.96
R6919:Tasor	UTSW	14	27,171,758 (GRCm39)	nonsense	probably null
R7046:Tasor	UTSW	14	27,194,392 (GRCm39)	missense	probably damaging	1.00
R7057:Tasor	UTSW	14	27,183,608 (GRCm39)	missense	probably damaging	0.97
R7064:Tasor	UTSW	14	27,194,288 (GRCm39)	missense	probably benign	0.09
R7290:Tasor	UTSW	14	27,160,610 (GRCm39)	missense	probably damaging	1.00
R7303:Tasor	UTSW	14	27,193,809 (GRCm39)	missense	probably damaging	1.00
R7439:Tasor	UTSW	14	27,193,602 (GRCm39)	missense	probably damaging	1.00
R7524:Tasor	UTSW	14	27,188,160 (GRCm39)	missense	probably damaging	0.99
R7580:Tasor	UTSW	14	27,188,243 (GRCm39)	missense	probably benign	0.29
R7726:Tasor	UTSW	14	27,169,454 (GRCm39)	missense	probably damaging	0.99
R7771:Tasor	UTSW	14	27,189,516 (GRCm39)	missense	probably damaging	1.00
R7782:Tasor	UTSW	14	27,193,901 (GRCm39)	missense	probably benign	0.07
R7795:Tasor	UTSW	14	27,203,340 (GRCm39)	missense
R7835:Tasor	UTSW	14	27,198,600 (GRCm39)	missense	probably damaging	1.00
R7954:Tasor	UTSW	14	27,169,481 (GRCm39)	critical splice donor site	probably null
R7981:Tasor	UTSW	14	27,168,373 (GRCm39)	missense	possibly damaging	0.49
R8101:Tasor	UTSW	14	27,164,438 (GRCm39)	missense	possibly damaging	0.90
R8160:Tasor	UTSW	14	27,171,913 (GRCm39)	missense	probably damaging	1.00
R8307:Tasor	UTSW	14	27,193,622 (GRCm39)	missense	probably damaging	1.00
R8913:Tasor	UTSW	14	27,188,145 (GRCm39)	missense	probably damaging	1.00
R9070:Tasor	UTSW	14	27,194,484 (GRCm39)	missense	probably benign	0.14
R9219:Tasor	UTSW	14	27,186,344 (GRCm39)	missense	possibly damaging	0.50
R9420:Tasor	UTSW	14	27,163,927 (GRCm39)	missense	probably damaging	0.99
R9513:Tasor	UTSW	14	27,186,271 (GRCm39)	nonsense	probably null
R9562:Tasor	UTSW	14	27,201,766 (GRCm39)	critical splice donor site	probably null
R9565:Tasor	UTSW	14	27,201,766 (GRCm39)	critical splice donor site	probably null
R9627:Tasor	UTSW	14	27,194,123 (GRCm39)	missense	probably benign
X0002:Tasor	UTSW	14	27,194,063 (GRCm39)	missense	possibly damaging	0.90
Z1176:Tasor	UTSW	14	27,199,105 (GRCm39)	missense	probably damaging	1.00
Z1176:Tasor	UTSW	14	27,151,165 (GRCm39)	missense	probably damaging	0.97
Z1177:Tasor	UTSW	14	27,170,207 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAAAAGCCGCCCGAATCC -3'
(R):5'- TACTTCCAACTTCCACGGGG -3'

Sequencing Primer
(F):5'- GCGGTTAAGAGGCGTCTC -3'
(R):5'- TATCCTCTCGCACCAAGGG -3'

Posted On

2016-07-06