Mutagenetix > Incidental Mutation

Incidental Mutation 'R5599:Tasor'

438958

Institutional Source

Beutler Lab

Gene Symbol

Tasor

Ensembl Gene

ENSMUSG00000040651

Gene Name

transcription activation suppressor

Synonyms

D14Abb1e, Fam208a, 4933409E02Rik, MommeD6

MMRRC Submission

043151-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27150791-27205512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27201886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1427 (N1427D)

Ref Sequence

ENSEMBL: ENSMUSP00000022450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022450] [ENSMUST00000050480] [ENSMUST00000223689]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022450
AA Change: N1427D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: N1427D

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: ENSMUST00000050480

SMART Domains

Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753

Domain	Start	End	E-Value	Type
coiled coil region	252	284	N/A	INTRINSIC
Pfam:CCDC66	409	561	1e-49	PFAM
low complexity region	715	721	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224837

Predicted Effect

unknown
Transcript: ENSMUST00000225139
AA Change: N79D

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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
Abhd2	T	A	7: 78,946,746 (GRCm39)		probably null	Het
Agpat3	T	C	10: 78,110,103 (GRCm39)	D282G	probably benign	Het
Ankhd1	G	A	18: 36,693,860 (GRCm39)	A24T	probably damaging	Het
Cracdl	T	C	1: 37,652,424 (GRCm39)	N1128D	possibly damaging	Het
Cry1	A	T	10: 84,980,114 (GRCm39)	M398K	probably benign	Het
Dpp10	A	G	1: 123,832,803 (GRCm39)	I47T	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,375 (GRCm39)	D329N	probably benign	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gxylt1	CTCATCCGGGTCAT	CTCAT	15: 93,152,198 (GRCm39)		probably benign	Het
Hnrnpul1	G	A	7: 25,454,097 (GRCm39)		probably benign	Het
Lbx1	T	A	19: 45,223,519 (GRCm39)	S50C	probably damaging	Het
Lims2	A	G	18: 32,090,324 (GRCm39)	N183S	probably benign	Het
Lrp1	T	C	10: 127,429,738 (GRCm39)	N444S	probably damaging	Het
Mast4	A	T	13: 102,873,987 (GRCm39)	C1626S	probably damaging	Het
Mgat5	A	G	1: 127,325,303 (GRCm39)	Y390C	probably damaging	Het
Nf2	T	C	11: 4,732,269 (GRCm39)	E553G	probably damaging	Het
Nfatc4	A	T	14: 56,069,733 (GRCm39)	T704S	probably benign	Het
Or4c3d	A	G	2: 89,882,563 (GRCm39)	V35A	probably benign	Het
Or56a3	T	C	7: 104,735,757 (GRCm39)		probably null	Het
Or7g29	T	G	9: 19,286,925 (GRCm39)	N84T	possibly damaging	Het
Or9m1b	T	G	2: 87,836,349 (GRCm39)	I258L	probably benign	Het
Plekha7	T	A	7: 115,776,117 (GRCm39)		probably null	Het
Polr1a	T	C	6: 71,944,346 (GRCm39)	M1271T	possibly damaging	Het
Ppip5k2	A	G	1: 97,668,323 (GRCm39)	M595T	probably damaging	Het
Ppox	A	T	1: 171,105,033 (GRCm39)	V412D	probably damaging	Het
Ppp1r12b	A	G	1: 134,793,645 (GRCm39)	V573A	probably benign	Het
Prkcb	T	C	7: 122,181,701 (GRCm39)	Y430H	probably benign	Het
Psmd6	A	C	14: 14,120,144 (GRCm38)	M65R	probably benign	Het
Rbm12	G	A	2: 155,938,713 (GRCm39)	R520*	probably null	Het
Rin3	T	C	12: 102,356,188 (GRCm39)	F830L	probably damaging	Het
Sema4b	A	G	7: 79,863,039 (GRCm39)	K104R	probably benign	Het
Slitrk1	T	C	14: 109,149,244 (GRCm39)	D489G	probably benign	Het
Spef2	T	C	15: 9,729,789 (GRCm39)	T110A	possibly damaging	Het
Sult2a6	T	A	7: 13,988,629 (GRCm39)	K44*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tcstv2c	A	C	13: 120,616,458 (GRCm39)	Q99P	probably damaging	Het
Tnxb	G	T	17: 34,909,176 (GRCm39)	G1445V	probably damaging	Het
Tnxb	T	C	17: 34,909,179 (GRCm39)	V1569A	probably benign	Het
Zcchc2	A	G	1: 105,959,880 (GRCm39)	D1163G	probably damaging	Het
Zfp365	C	T	10: 67,745,197 (GRCm39)	E194K	probably damaging	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
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
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'- CGAAAGCTCTGAGTCTGCTG -3'
(R):5'- AAGTTACCTGACTGGGACTCAAG -3'

Sequencing Primer
(F):5'- TGCTCCAGAAATGGACTGC -3'
(R):5'- GGGACTCAAGGTTCTCATTAGCAC -3'

Posted On

2016-10-26