Mutagenetix > Incidental Mutation

Incidental Mutation 'D4043:Tasor'

249

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 #

D4043 (G3) of strain 483

Quality Score

Status

Validated

Chromosome

Chromosomal Location

27150791-27205512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27193949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1050 (I1050V)

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: I1050V

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: I1050V

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

Meta Mutation Damage Score

0.0878

Coding Region Coverage

1x: 88.8%
3x: 72.5%

Validation Efficiency

88% (220/249)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,325,496 (GRCm39)	C319*	probably null	Het
Adgrg1	T	C	8: 95,731,857 (GRCm39)		probably null	Homo
Ago3	A	T	4: 126,244,796 (GRCm39)	V630E	probably damaging	Het
Armc8	G	T	9: 99,366,029 (GRCm39)	N628K	probably benign	Het
Cfap96	A	G	8: 46,409,440 (GRCm39)	V293A	probably damaging	Het
Chd7	A	G	4: 8,862,650 (GRCm39)	D2579G	probably damaging	Het
Duox1	G	A	2: 122,175,276 (GRCm39)	C1358Y	probably benign	Het
Ftsj3	C	A	11: 106,145,634 (GRCm39)	M66I	possibly damaging	Homo
Iqub	C	T	6: 24,505,750 (GRCm39)	E53K	possibly damaging	Het
Kirrel1	T	A	3: 86,990,510 (GRCm39)	T771S	probably benign	Het
Lrrc66	A	T	5: 73,764,869 (GRCm39)	S725T	probably benign	Het
Mael	T	C	1: 166,064,455 (GRCm39)	I104M	probably benign	Homo
Mkks	C	T	2: 136,716,530 (GRCm39)	V457I	probably benign	Het
Nadk2	T	A	15: 9,103,473 (GRCm39)		probably benign	Homo
Npas1	T	C	7: 16,197,169 (GRCm39)		probably null	Het
Ocrl	T	C	X: 47,025,200 (GRCm39)	V359A	probably benign	Homo
Or8k27	G	A	2: 86,275,564 (GRCm39)	T254M	probably damaging	Het
Pde6b	C	T	5: 108,573,222 (GRCm39)	R531*	probably null	Het
Polr1a	G	A	6: 71,918,401 (GRCm39)	C653Y	possibly damaging	Het
Rbm26	A	G	14: 105,389,976 (GRCm39)	V216A	possibly damaging	Het
Rin2	C	A	2: 145,664,283 (GRCm39)	H52Q	possibly damaging	Het
Ssc5d	C	T	7: 4,946,982 (GRCm39)	T1112I	possibly damaging	Het
Sv2c	C	T	13: 96,224,989 (GRCm39)	V107M	probably benign	Het
Tulp3	G	A	6: 128,301,113 (GRCm39)	S366L	probably benign	Het
Zfp831	T	A	2: 174,487,059 (GRCm39)	V578E	probably benign	Homo

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
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
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

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at position 3277 of the D14Abb1e transcript using Ensembl record ENSMUST00000059031 in exon 19 of 25 total exons. Two transcripts of the D14Abb1e gene are displayed on Ensembl. The mutated nucleotide causes an isoleucine to valine substitution at amino acid 1020 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The D14Abb1e gene encodes an uncharacterized protein with evidence at the transcript level. The actual size of the encoded protein is unclear as it is reported to be 1610 amino acids on Uniprot (Uniprot Q69ZR9), while the Ensembl records predict 1216 amino acids and 545 amino acids. This gene may encode multiple isoforms.

The I1020V change is predicted to be benign by the PolyPhen program.

Posted On

2010-08-10