Mutagenetix > Incidental Mutation

Incidental Mutation 'R1228:Tcea2'

175023

Institutional Source

Beutler Lab

Gene Symbol

Tcea2

Ensembl Gene

ENSMUSG00000059540

Gene Name

transcription elongation factor A (SII), 2

Synonyms

SII-T1, Tceat, S-II-T1

MMRRC Submission

039297-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R1228 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

181322103-181329864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 181326238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 81 (V81F)

Ref Sequence

ENSEMBL: ENSMUSP00000099331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002532] [ENSMUST00000103042] [ENSMUST00000108769] [ENSMUST00000108771] [ENSMUST00000108772] [ENSMUST00000108776] [ENSMUST00000108778] [ENSMUST00000129745] [ENSMUST00000108779] [ENSMUST00000165416]

AlphaFold

Q9QVN7

Predicted Effect

probably benign
Transcript: ENSMUST00000002532

SMART Domains

Protein: ENSMUSP00000002532
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103042
AA Change: V81F

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099331
Gene: ENSMUSG00000059540
AA Change: V81F

Domain	Start	End	E-Value	Type
TFS2N	7	81	2.51e-25	SMART
low complexity region	114	129	N/A	INTRINSIC
TFS2M	136	237	4.14e-51	SMART
ZnF_C2C2	259	298	7.37e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108769

SMART Domains

Protein: ENSMUSP00000104400
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
Pfam:RGS	90	160	4.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108771

SMART Domains

Protein: ENSMUSP00000104402
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
RGS	68	184	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108772

SMART Domains

Protein: ENSMUSP00000104403
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
RGS	68	184	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108776

SMART Domains

Protein: ENSMUSP00000104406
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108778

SMART Domains

Protein: ENSMUSP00000104408
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	66	78	N/A	INTRINSIC
RGS	117	233	2.73e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136145

Predicted Effect

probably benign
Transcript: ENSMUST00000129745
AA Change: V74F

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119646
Gene: ENSMUSG00000059540
AA Change: V74F

Domain	Start	End	E-Value	Type
Pfam:Med26	21	73	2.1e-20	PFAM
low complexity region	107	122	N/A	INTRINSIC
TFS2M	129	230	4.14e-51	SMART
ZnF_C2C2	252	291	7.37e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125892

Predicted Effect

unknown
Transcript: ENSMUST00000129006
AA Change: V78F

SMART Domains

Protein: ENSMUSP00000120083
Gene: ENSMUSG00000059540
AA Change: V78F

Domain	Start	End	E-Value	Type
Pfam:Med26	27	77	5.1e-17	PFAM
low complexity region	112	127	N/A	INTRINSIC
TFS2M	134	235	4.14e-51	SMART
ZnF_C2C2	257	296	7.37e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126844

Predicted Effect

probably benign
Transcript: ENSMUST00000108779

SMART Domains

Protein: ENSMUSP00000104409
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165416

SMART Domains

Protein: ENSMUSP00000129026
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144476

SMART Domains

Protein: ENSMUSP00000120723
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
Pfam:RGS	1	49	3e-10	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag6	T	A	17: 35,364,309 (GRCm39)	S863R	probably damaging	Het
Ccdc181	C	T	1: 164,113,960 (GRCm39)	R455*	probably null	Het
Clvs2	T	C	10: 33,498,600 (GRCm39)	N110S	probably benign	Het
Enpp1	T	A	10: 24,521,310 (GRCm39)	I806F	probably benign	Het
Entrep1	A	G	19: 23,956,829 (GRCm39)	S355P	probably benign	Het
Fli1	T	C	9: 32,335,139 (GRCm39)	Y431C	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Klhl25	C	T	7: 75,515,868 (GRCm39)	A258V	probably benign	Het
Krt13	T	C	11: 100,012,303 (GRCm39)	S7G	probably benign	Het
Pakap	T	A	4: 57,856,909 (GRCm39)	I787N	probably damaging	Het
Pappa	T	C	4: 65,258,926 (GRCm39)	F1558S	probably damaging	Het
Phc3	A	T	3: 30,976,404 (GRCm39)	N721K	possibly damaging	Het
Plxna4	A	T	6: 32,201,087 (GRCm39)		probably null	Het
Rabac1	T	C	7: 24,671,523 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,511,837 (GRCm39)	D572G	probably null	Het
Rpia	T	C	6: 70,768,880 (GRCm39)	N85S	probably benign	Het
Sh3gl3	A	G	7: 81,824,723 (GRCm39)	M1V	probably null	Het
Skint6	T	C	4: 112,711,649 (GRCm39)	N956S	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sp110	G	A	1: 85,519,481 (GRCm39)	P116S	probably benign	Het
Spata7	T	C	12: 98,600,528 (GRCm39)	L47P	probably damaging	Het
Ttbk1	A	T	17: 46,787,638 (GRCm39)		probably null	Het
Vmn2r77	G	A	7: 86,450,242 (GRCm39)		probably null	Het

Other mutations in Tcea2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02118:Tcea2	APN	2	181,327,628 (GRCm39)	missense	probably benign	0.02
R0009:Tcea2	UTSW	2	181,327,610 (GRCm39)	missense	probably benign
R0513:Tcea2	UTSW	2	181,326,274 (GRCm39)	missense	probably benign	0.19
R0626:Tcea2	UTSW	2	181,329,431 (GRCm39)	missense	probably damaging	1.00
R1540:Tcea2	UTSW	2	181,328,751 (GRCm39)	missense	possibly damaging	0.55
R2095:Tcea2	UTSW	2	181,328,725 (GRCm39)	missense	probably damaging	1.00
R4735:Tcea2	UTSW	2	181,328,514 (GRCm39)	missense	probably damaging	1.00
R5499:Tcea2	UTSW	2	181,322,227 (GRCm39)	missense	probably damaging	0.99
R7039:Tcea2	UTSW	2	181,328,711 (GRCm39)	nonsense	probably null
R7411:Tcea2	UTSW	2	181,328,457 (GRCm39)	missense	probably damaging	1.00
R9398:Tcea2	UTSW	2	181,322,243 (GRCm39)	missense	probably damaging	1.00
R9432:Tcea2	UTSW	2	181,322,227 (GRCm39)	missense	probably damaging	0.99
R9647:Tcea2	UTSW	2	181,322,984 (GRCm39)	missense	probably benign	0.01
R9774:Tcea2	UTSW	2	181,328,664 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAAGGTTTCTGCCCATGTTTTC -3'
(R):5'- GGCAGTAACCAGGCAAATGCAC -3'

Sequencing Primer
(F):5'- TTGATGAGTCCTACAGCAGC -3'
(R):5'- TGCACACCAGCCTCCTC -3'

Posted On

2014-04-24