Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00708:Tcerg1'

14401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcerg1

Ensembl Gene

ENSMUSG00000024498

Gene Name

transcription elongation regulator 1 (CA150)

Synonyms

ca150, p144, Fbp28, 2900090C16Rik, Taf2s, 2410022J09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00708

Quality Score

Status

Chromosome

Chromosomal Location

42644552-42708858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42704190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 949 (N949K)

Ref Sequence

ENSEMBL: ENSMUSP00000134458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025375] [ENSMUST00000173642]

AlphaFold

Q8CGF7

Predicted Effect

probably benign
Transcript: ENSMUST00000025375
AA Change: N949K

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: N949K

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	40	92	N/A	INTRINSIC
WW	132	164	8.27e-10	SMART
low complexity region	178	257	N/A	INTRINSIC
low complexity region	260	347	N/A	INTRINSIC
low complexity region	350	373	N/A	INTRINSIC
WW	432	464	2.65e-8	SMART
WW	531	563	1.2e-6	SMART
low complexity region	611	623	N/A	INTRINSIC
coiled coil region	629	654	N/A	INTRINSIC
FF	661	714	2.67e-13	SMART
FF	727	781	1.51e-12	SMART
FF	794	848	4.29e-17	SMART
FF	898	954	8.33e-15	SMART
FF	956	1012	1.47e-15	SMART
FF	1014	1079	1.3e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173642
AA Change: N949K

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: N949K

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	40	92	N/A	INTRINSIC
WW	132	164	8.27e-10	SMART
low complexity region	178	257	N/A	INTRINSIC
low complexity region	260	347	N/A	INTRINSIC
low complexity region	350	373	N/A	INTRINSIC
WW	432	464	2.65e-8	SMART
WW	531	563	1.2e-6	SMART
low complexity region	611	623	N/A	INTRINSIC
coiled coil region	629	654	N/A	INTRINSIC
FF	661	714	2.67e-13	SMART
FF	727	781	1.51e-12	SMART
FF	794	848	4.29e-17	SMART
FF	898	954	8.33e-15	SMART
FF	956	1012	1.47e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184771

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	G	7: 66,618,650 (GRCm39)	E388G	probably damaging	Het
Arid4a	T	C	12: 71,119,502 (GRCm39)	S374P	probably benign	Het
Ccdc186	A	T	19: 56,801,879 (GRCm39)	S79R	probably benign	Het
Cela3b	C	A	4: 137,149,280 (GRCm39)	L241F	probably benign	Het
Dsg4	T	A	18: 20,594,383 (GRCm39)	V504D	probably benign	Het
Fhip1b	C	T	7: 105,037,467 (GRCm39)	R372Q	probably damaging	Het
Meis2	C	T	2: 115,694,725 (GRCm39)	D473N	probably benign	Het
Mri1	A	T	8: 84,978,277 (GRCm39)	I338N	probably damaging	Het
Mroh8	A	G	2: 157,062,090 (GRCm39)	S868P	probably damaging	Het
Mtus1	G	A	8: 41,537,386 (GRCm39)	T110I	probably damaging	Het
Mug2	A	G	6: 122,024,446 (GRCm39)	E506G	possibly damaging	Het
Napsa	A	G	7: 44,230,845 (GRCm39)	T71A	probably benign	Het
Prepl	T	C	17: 85,385,935 (GRCm39)	Y243C	probably damaging	Het
Prkdc	A	G	16: 15,597,290 (GRCm39)	I2817V	probably damaging	Het
Rbm26	C	T	14: 105,397,396 (GRCm39)	V69I	unknown	Het
Tgfbr1	C	T	4: 47,383,992 (GRCm39)	T45I	probably benign	Het
Trim37	T	A	11: 87,077,219 (GRCm39)	D516E	probably damaging	Het
Wdr7	C	T	18: 63,911,104 (GRCm39)	T832M	probably benign	Het
Zfp280d	T	C	9: 72,219,417 (GRCm39)	V198A	probably benign	Het

Other mutations in Tcerg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00701:Tcerg1	APN	18	42,669,407 (GRCm39)	missense	probably benign	0.34
IGL00741:Tcerg1	APN	18	42,701,518 (GRCm39)	missense	possibly damaging	0.94
IGL01314:Tcerg1	APN	18	42,706,374 (GRCm39)	missense	probably damaging	1.00
IGL01358:Tcerg1	APN	18	42,657,342 (GRCm39)	missense	unknown
IGL01832:Tcerg1	APN	18	42,707,620 (GRCm39)	missense	probably damaging	0.99
IGL01985:Tcerg1	APN	18	42,663,721 (GRCm39)	missense	unknown
IGL02937:Tcerg1	APN	18	42,657,414 (GRCm39)	missense	unknown
IGL02953:Tcerg1	APN	18	42,681,535 (GRCm39)	missense	probably damaging	1.00
IGL03082:Tcerg1	APN	18	42,706,422 (GRCm39)	missense	probably damaging	1.00
P0031:Tcerg1	UTSW	18	42,706,367 (GRCm39)	missense	probably benign	0.07
R0060:Tcerg1	UTSW	18	42,657,073 (GRCm39)	missense	unknown
R0138:Tcerg1	UTSW	18	42,701,679 (GRCm39)	splice site	probably benign
R0482:Tcerg1	UTSW	18	42,697,305 (GRCm39)	splice site	probably benign
R0502:Tcerg1	UTSW	18	42,656,021 (GRCm39)	missense	unknown
R0731:Tcerg1	UTSW	18	42,704,905 (GRCm39)	missense	probably damaging	0.99
R1117:Tcerg1	UTSW	18	42,707,717 (GRCm39)	missense	probably damaging	0.99
R1542:Tcerg1	UTSW	18	42,686,495 (GRCm39)	missense	probably damaging	0.99
R1571:Tcerg1	UTSW	18	42,657,357 (GRCm39)	missense	unknown
R1673:Tcerg1	UTSW	18	42,685,646 (GRCm39)	missense	possibly damaging	0.91
R1678:Tcerg1	UTSW	18	42,657,414 (GRCm39)	missense	unknown
R1799:Tcerg1	UTSW	18	42,694,012 (GRCm39)	missense	possibly damaging	0.92
R2094:Tcerg1	UTSW	18	42,697,210 (GRCm39)	missense	possibly damaging	0.92
R2231:Tcerg1	UTSW	18	42,657,309 (GRCm39)	missense	unknown
R2989:Tcerg1	UTSW	18	42,652,540 (GRCm39)	missense	unknown
R3831:Tcerg1	UTSW	18	42,701,554 (GRCm39)	missense	probably damaging	1.00
R4009:Tcerg1	UTSW	18	42,697,201 (GRCm39)	frame shift	probably null
R4034:Tcerg1	UTSW	18	42,652,598 (GRCm39)	missense	unknown
R4826:Tcerg1	UTSW	18	42,668,180 (GRCm39)	missense	unknown
R4858:Tcerg1	UTSW	18	42,657,046 (GRCm39)	missense	unknown
R5371:Tcerg1	UTSW	18	42,652,600 (GRCm39)	missense	unknown
R5865:Tcerg1	UTSW	18	42,669,413 (GRCm39)	missense	probably damaging	0.98
R6128:Tcerg1	UTSW	18	42,644,563 (GRCm39)	splice site	probably null
R6258:Tcerg1	UTSW	18	42,686,530 (GRCm39)	missense	probably damaging	1.00
R6260:Tcerg1	UTSW	18	42,686,530 (GRCm39)	missense	probably damaging	1.00
R6516:Tcerg1	UTSW	18	42,663,957 (GRCm39)	critical splice donor site	probably null
R6825:Tcerg1	UTSW	18	42,681,542 (GRCm39)	missense	probably damaging	0.98
R7147:Tcerg1	UTSW	18	42,683,128 (GRCm39)	missense	probably benign	0.22
R7714:Tcerg1	UTSW	18	42,694,000 (GRCm39)	missense	possibly damaging	0.77
R7739:Tcerg1	UTSW	18	42,657,039 (GRCm39)	missense	unknown
R7838:Tcerg1	UTSW	18	42,670,002 (GRCm39)	missense	probably benign	0.01
R8204:Tcerg1	UTSW	18	42,707,618 (GRCm39)	missense	probably damaging	1.00
R8293:Tcerg1	UTSW	18	42,694,020 (GRCm39)	missense	probably benign	0.03
R8300:Tcerg1	UTSW	18	42,683,137 (GRCm39)	missense	probably benign	0.22
R8426:Tcerg1	UTSW	18	42,681,466 (GRCm39)	missense	possibly damaging	0.68
R8514:Tcerg1	UTSW	18	42,697,187 (GRCm39)	missense	probably damaging	0.98
R8672:Tcerg1	UTSW	18	42,686,559 (GRCm39)	missense	probably damaging	1.00
R9367:Tcerg1	UTSW	18	42,685,573 (GRCm39)	missense	possibly damaging	0.93
R9715:Tcerg1	UTSW	18	42,706,413 (GRCm39)	missense	probably damaging	0.99
R9718:Tcerg1	UTSW	18	42,663,836 (GRCm39)	missense	unknown
R9781:Tcerg1	UTSW	18	42,701,030 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06