Mutagenetix > Incidental Mutation

Incidental Mutation 'R6603:Tasor'

525488

Institutional Source

Beutler Lab

Gene Symbol

Tasor

Ensembl Gene

ENSMUSG00000040651

Gene Name

transcription activation suppressor

Synonyms

D14Abb1e, Fam208a, 4933409E02Rik, MommeD6

MMRRC Submission

044726-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6603 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27150791-27205512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27168343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 295 (Y295C)

Ref Sequence

ENSEMBL: ENSMUSP00000022450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022450
AA Change: Y295C

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

SMART Domains

Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: Y295C

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

noncoding transcript
Transcript: ENSMUST00000223970

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,155,518 (GRCm39)	F167Y	possibly damaging	Het
Ap3d1	A	G	10: 80,549,881 (GRCm39)	S755P	probably benign	Het
Aph1a	A	T	3: 95,802,808 (GRCm39)	N136I	probably damaging	Het
AU040320	T	A	4: 126,686,046 (GRCm39)	N207K	probably benign	Het
Caprin1	A	T	2: 103,605,856 (GRCm39)	D377E	probably benign	Het
Col18a1	A	G	10: 76,899,811 (GRCm39)		probably null	Het
Ddi2	T	C	4: 141,411,181 (GRCm39)	N577S	probably damaging	Het
Dip2c	T	A	13: 9,704,624 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,648,240 (GRCm39)		probably null	Het
Fam13a	T	C	6: 58,964,174 (GRCm39)	K86R	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxl8	A	T	8: 105,994,842 (GRCm39)	D118V	probably damaging	Het
Garin5b	G	A	7: 4,761,431 (GRCm39)	P427L	possibly damaging	Het
Git2	C	A	5: 114,869,052 (GRCm39)		probably null	Het
Gm17190	T	G	13: 96,218,770 (GRCm39)	D35E	possibly damaging	Het
Gnb4	C	T	3: 32,639,295 (GRCm39)	D333N	probably damaging	Het
Has2	T	A	15: 56,531,968 (GRCm39)	D249V	probably damaging	Het
Ighv1-23	A	G	12: 114,728,141 (GRCm39)	S94P	probably damaging	Het
Itpr2	A	G	6: 146,248,669 (GRCm39)	I1029T	probably damaging	Het
Kctd16	T	C	18: 40,391,544 (GRCm39)	I44T	probably benign	Het
Kpna1	A	G	16: 35,849,890 (GRCm39)		probably null	Het
Lonrf1	T	A	8: 36,690,095 (GRCm39)	R654S	probably damaging	Het
Lrrc49	A	C	9: 60,501,052 (GRCm39)		probably null	Het
Miip	T	G	4: 147,950,380 (GRCm39)	K72T	possibly damaging	Het
Mink1	C	T	11: 70,500,419 (GRCm39)	P782S	probably damaging	Het
Mpped2	A	G	2: 106,697,322 (GRCm39)	T266A	probably benign	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Naip1	C	T	13: 100,559,666 (GRCm39)	G1113S	probably benign	Het
Nbr1	A	G	11: 101,446,931 (GRCm39)		probably benign	Het
Necab3	A	T	2: 154,396,842 (GRCm39)	N46K	probably damaging	Het
Or51a8	A	T	7: 102,549,621 (GRCm39)	I16F	probably benign	Het
Phtf1	C	T	3: 103,901,189 (GRCm39)	R360C	probably damaging	Het
Plcl2	A	G	17: 50,914,145 (GRCm39)	I385V	probably benign	Het
Prmt8	A	T	6: 127,706,376 (GRCm39)	F138L	probably benign	Het
Prpf40a	T	G	2: 53,042,975 (GRCm39)	R436S	probably damaging	Het
Rab27b	T	A	18: 70,118,375 (GRCm39)	I181F	probably damaging	Het
Rasgrf1	A	G	9: 89,792,310 (GRCm39)	E87G	probably damaging	Het
Scrib	T	A	15: 75,934,572 (GRCm39)	T674S	probably benign	Het
Slc9a4	A	G	1: 40,662,664 (GRCm39)	S644G	probably benign	Het
Slc9a9	G	A	9: 94,821,599 (GRCm39)	A329T	probably damaging	Het
Smc4	T	C	3: 68,929,794 (GRCm39)		probably null	Het
Sox7	T	A	14: 64,185,637 (GRCm39)	H224Q	probably benign	Het
Spata31	T	C	13: 65,070,479 (GRCm39)	S876P	probably damaging	Het
Syndig1	G	A	2: 149,845,208 (GRCm39)	V244M	probably damaging	Het
Tas2r113	A	T	6: 132,870,421 (GRCm39)	I150L	probably benign	Het
Tmem59l	G	A	8: 70,939,006 (GRCm39)	P56L	probably benign	Het
Tnfrsf8	A	T	4: 145,019,168 (GRCm39)	D222E	possibly damaging	Het
Trim52	T	C	14: 106,344,483 (GRCm39)	L47P	probably damaging	Het
Ttc34	T	A	4: 154,923,762 (GRCm39)	I157K	probably benign	Het
Txndc16	A	G	14: 45,389,224 (GRCm39)	F492S	probably damaging	Het
Ubr4	A	G	4: 139,182,897 (GRCm39)	I428V	probably benign	Het
Vmn2r41	T	A	7: 8,141,359 (GRCm39)	I702F	probably damaging	Het
Wdr12	T	A	1: 60,121,783 (GRCm39)	H256L	probably damaging	Het
Xirp2	A	G	2: 67,346,888 (GRCm39)	H3043R	probably benign	Het
Xrcc1	C	T	7: 24,270,459 (GRCm39)	Q500*	probably null	Het
Zfp583	T	C	7: 6,328,475 (GRCm39)	N38S	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
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
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'- TCTGAACTAAACTTCTGGGATAGC -3'
(R):5'- GTTCTACAACTTAGCTAGGTGAATC -3'

Sequencing Primer
(F):5'- AAACTTCTGGGATAGCTTGGTATCAG -3'
(R):5'- TTGAAGAGGACAATGGTCGCTTC -3'

Posted On

2018-06-22