Mutagenetix > Incidental Mutation

Incidental Mutation 'R3979:Tasor'

311206

Institutional Source

Beutler Lab

Gene Symbol

Tasor

Ensembl Gene

ENSMUSG00000040651

Gene Name

transcription activation suppressor

Synonyms

D14Abb1e, Fam208a, 4933409E02Rik, MommeD6

MMRRC Submission

040942-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3979 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27150791-27205512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27199087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 1335 (L1335S)

Ref Sequence

ENSEMBL: ENSMUSP00000022450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022450] [ENSMUST00000223689]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022450
AA Change: L1335S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: L1335S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223689

Predicted Effect

probably benign
Transcript: ENSMUST00000225139

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,154,320 (GRCm39)	V82A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ak3	T	A	19: 29,025,118 (GRCm39)	S38C	probably damaging	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arhgap10	T	C	8: 78,147,354 (GRCm39)	N170S	probably benign	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Bicral	T	A	17: 47,141,917 (GRCm39)	M1L	unknown	Het
Bop1	A	G	15: 76,338,076 (GRCm39)	L598P	probably damaging	Het
Cachd1	A	T	4: 100,828,085 (GRCm39)	D611V	probably damaging	Het
Cfap70	T	A	14: 20,489,787 (GRCm39)	E246D	probably benign	Het
Chl1	T	A	6: 103,692,245 (GRCm39)	Y294*	probably null	Het
Chrna2	T	A	14: 66,386,402 (GRCm39)	Y183N	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dnajb6	T	C	5: 29,956,006 (GRCm39)	F46L	possibly damaging	Het
Exoc7	T	C	11: 116,187,588 (GRCm39)	E275G	probably benign	Het
Frem2	A	G	3: 53,559,491 (GRCm39)	I1672T	probably benign	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
H2-M10.4	A	G	17: 36,772,877 (GRCm39)	V35A	probably benign	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Iffo1	A	G	6: 125,137,552 (GRCm39)		probably benign	Het
Iqgap1	G	A	7: 80,409,682 (GRCm39)	H218Y	probably damaging	Het
Itpr3	A	C	17: 27,304,105 (GRCm39)	K109Q	probably benign	Het
Itpr3	A	G	17: 27,310,546 (GRCm39)	D443G	probably damaging	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Klk1b4	G	A	7: 43,861,017 (GRCm39)	G220D	probably damaging	Het
Krt24	A	G	11: 99,173,596 (GRCm39)	C242R	probably benign	Het
Madd	G	A	2: 91,007,173 (GRCm39)	T313I	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mical2	A	G	7: 112,006,885 (GRCm39)		probably null	Het
Neil3	T	C	8: 54,076,699 (GRCm39)	T79A	probably damaging	Het
Nras	A	G	3: 102,967,541 (GRCm39)	I46V	probably benign	Het
Or2w1b	T	A	13: 21,300,031 (GRCm39)	H56Q	probably benign	Het
Or4a66	T	C	2: 88,530,792 (GRCm39)	S294G	probably benign	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Rarres1	A	G	3: 67,403,143 (GRCm39)	V86A	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rock2	A	G	12: 17,022,737 (GRCm39)	K1059E	probably damaging	Het
Sft2d1rt	T	A	11: 45,942,853 (GRCm39)	K90M	probably damaging	Het
Sparcl1	T	C	5: 104,240,647 (GRCm39)	H259R	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Stab2	T	C	10: 86,699,320 (GRCm39)	D515G	possibly damaging	Het
Sycp2l	A	G	13: 41,295,440 (GRCm39)	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tcaf2	A	G	6: 42,619,481 (GRCm39)	V182A	probably damaging	Het
Tcof1	C	T	18: 60,964,605 (GRCm39)	E674K	possibly damaging	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,575,738 (GRCm39)	W25052R	probably damaging	Het
Ubr1	T	A	2: 120,693,168 (GRCm39)	N1746I	probably benign	Het
Vax2	T	C	6: 83,714,529 (GRCm39)	V148A	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r96	T	A	17: 18,817,941 (GRCm39)	I698N	probably damaging	Het
Wdr90	A	G	17: 26,078,252 (GRCm39)	V372A	probably benign	Het
Zfp335	C	T	2: 164,752,558 (GRCm39)	G62D	probably benign	Het
Zfp563	G	A	17: 33,324,701 (GRCm39)	R432H	probably benign	Het
Zhx1	T	C	15: 57,916,636 (GRCm39)	T537A	probably benign	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
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
R5200:Tasor	UTSW	14	27,151,183 (GRCm39)	missense	probably benign	0.41
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'- CACTTGGCTTCCTCTGGTAG -3'
(R):5'- GAGGACTTCACCAAATTGTTTGTC -3'

Sequencing Primer
(F):5'- CTTCCTCTGGTAGTGGTATTGATAC -3'
(R):5'- TTGTCAACAAGAATACCACTTCTTCC -3'

Posted On

2015-04-29