Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02118:Tcea2'

280463

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcea2

Ensembl Gene

ENSMUSG00000059540

Gene Name

transcription elongation factor A (SII), 2

Synonyms

SII-T1, Tceat, S-II-T1

Accession Numbers

Essential gene?

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

Stock #

IGL02118

Quality Score

Status

Chromosome

Chromosomal Location

181322103-181329864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181327628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 125 (I125V)

Ref Sequence

ENSEMBL: ENSMUSP00000099331 (fasta)

Gene Model

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

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: I125V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099331
Gene: ENSMUSG00000059540
AA Change: I125V

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

unknown
Transcript: ENSMUST00000129006
AA Change: I122V

SMART Domains

Protein: ENSMUSP00000120083
Gene: ENSMUSG00000059540
AA Change: I122V

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

probably benign
Transcript: ENSMUST00000129745
AA Change: I118V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000119646
Gene: ENSMUSG00000059540
AA Change: I118V

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: ENSMUST00000124776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125892

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

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

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,758,865 (GRCm39)	Y359H	possibly damaging	Het
Actn2	A	G	13: 12,291,433 (GRCm39)		probably benign	Het
Actr8	T	C	14: 29,704,728 (GRCm39)		probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Aldob	T	A	4: 49,538,790 (GRCm39)	K243*	probably null	Het
Arfgap1	T	C	2: 180,622,237 (GRCm39)	F274S	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cask	T	C	X: 13,425,634 (GRCm39)	I471V	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,942 (GRCm39)	G150S	probably benign	Het
Cpne1	T	G	2: 155,919,563 (GRCm39)	D278A	possibly damaging	Het
Gcn1	A	G	5: 115,748,938 (GRCm39)	E1856G	probably damaging	Het
Gm8362	A	T	14: 18,149,595 (GRCm39)	V159E	probably damaging	Het
Golga5	A	G	12: 102,462,011 (GRCm39)	I700V	possibly damaging	Het
Ifi206	T	C	1: 173,309,334 (GRCm39)	T221A	probably benign	Het
Ighv2-6-8	T	C	12: 113,760,037 (GRCm39)	K24R	possibly damaging	Het
Morc1	T	C	16: 48,407,467 (GRCm39)	L661P	probably benign	Het
Per2	G	A	1: 91,352,031 (GRCm39)	T825I	probably damaging	Het
Plscr1l1	A	T	9: 92,233,011 (GRCm39)	K45*	probably null	Het
Pramel20	A	T	4: 143,297,726 (GRCm39)	T49S	probably benign	Het
Prkar2b	A	G	12: 32,025,963 (GRCm39)	V19A	probably damaging	Het
Psmb8	T	A	17: 34,420,198 (GRCm39)	D263E	probably damaging	Het
Pum2	T	C	12: 8,779,117 (GRCm39)	I563T	probably benign	Het
Retreg1	T	G	15: 25,966,709 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,524,486 (GRCm39)	T559A	probably benign	Het
Rnf31	T	G	14: 55,836,569 (GRCm39)	I801S	probably damaging	Het
Rom1	G	T	19: 8,906,386 (GRCm39)	T51N	possibly damaging	Het
Sema6b	G	T	17: 56,439,821 (GRCm39)	P7T	probably benign	Het
Stpg1	A	G	4: 135,235,375 (GRCm39)		probably benign	Het
Sugct	A	T	13: 17,627,105 (GRCm39)	Y249*	probably null	Het
Tbc1d21	C	T	9: 58,267,746 (GRCm39)	V317M	probably benign	Het
Ttc39b	T	A	4: 83,216,186 (GRCm39)	D19V	probably damaging	Het
Tti2	T	A	8: 31,645,537 (GRCm39)		probably null	Het
Usp32	A	T	11: 84,923,003 (GRCm39)	Y142*	probably null	Het
Vill	A	G	9: 118,889,466 (GRCm39)	Y134C	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Zfp398	A	G	6: 47,835,879 (GRCm39)	D14G	probably damaging	Het
Zfp598	T	C	17: 24,896,591 (GRCm39)	Y223H	probably damaging	Het
Znhit6	G	T	3: 145,283,859 (GRCm39)	C43F	probably damaging	Het

Other mutations in Tcea2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1228:Tcea2	UTSW	2	181,326,238 (GRCm39)	missense	probably benign	0.11
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

Posted On

2015-04-16