Mutagenetix > Incidental Mutations

Incidental Mutation 'R0731:Tcerg1'

67596

Institutional Source

Beutler Lab

Gene Symbol

Tcerg1

Ensembl Gene

ENSMUSG00000024498

Gene Name

transcription elongation regulator 1 (CA150)

Synonyms

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

MMRRC Submission

038912-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42511510-42575551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42571840 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 978 (T978M)

Ref Sequence

ENSEMBL: ENSMUSP00000134458 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025375
AA Change: T978M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: T978M

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 damaging
Transcript: ENSMUST00000173642
AA Change: T978M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: T978M

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

Meta Mutation Damage Score

0.4582

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	Het

Other mutations in Tcerg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00701:Tcerg1	APN	18	42536342	missense	probably benign	0.34
IGL00708:Tcerg1	APN	18	42571125	missense	probably benign	0.38
IGL00741:Tcerg1	APN	18	42568453	missense	possibly damaging	0.94
IGL01314:Tcerg1	APN	18	42573309	missense	probably damaging	1.00
IGL01358:Tcerg1	APN	18	42524277	missense	unknown
IGL01832:Tcerg1	APN	18	42574555	missense	probably damaging	0.99
IGL01985:Tcerg1	APN	18	42530656	missense	unknown
IGL02937:Tcerg1	APN	18	42524349	missense	unknown
IGL02953:Tcerg1	APN	18	42548470	missense	probably damaging	1.00
IGL03082:Tcerg1	APN	18	42573357	missense	probably damaging	1.00
P0031:Tcerg1	UTSW	18	42573302	missense	probably benign	0.07
R0060:Tcerg1	UTSW	18	42524008	missense	unknown
R0138:Tcerg1	UTSW	18	42568614	splice site	probably benign
R0482:Tcerg1	UTSW	18	42564240	splice site	probably benign
R0502:Tcerg1	UTSW	18	42522956	missense	unknown
R1117:Tcerg1	UTSW	18	42574652	missense	probably damaging	0.99
R1542:Tcerg1	UTSW	18	42553430	missense	probably damaging	0.99
R1571:Tcerg1	UTSW	18	42524292	missense	unknown
R1673:Tcerg1	UTSW	18	42552581	missense	possibly damaging	0.91
R1678:Tcerg1	UTSW	18	42524349	missense	unknown
R1799:Tcerg1	UTSW	18	42560947	missense	possibly damaging	0.92
R2094:Tcerg1	UTSW	18	42564145	missense	possibly damaging	0.92
R2231:Tcerg1	UTSW	18	42524244	missense	unknown
R2989:Tcerg1	UTSW	18	42519475	missense	unknown
R3831:Tcerg1	UTSW	18	42568489	missense	probably damaging	1.00
R4009:Tcerg1	UTSW	18	42564136	frame shift	probably null
R4034:Tcerg1	UTSW	18	42519533	missense	unknown
R4826:Tcerg1	UTSW	18	42535115	missense	unknown
R4858:Tcerg1	UTSW	18	42523981	missense	unknown
R5371:Tcerg1	UTSW	18	42519535	missense	unknown
R5865:Tcerg1	UTSW	18	42536348	missense	probably damaging	0.98
R6128:Tcerg1	UTSW	18	42511498	splice site	probably null
R6258:Tcerg1	UTSW	18	42553465	missense	probably damaging	1.00
R6260:Tcerg1	UTSW	18	42553465	missense	probably damaging	1.00
R6516:Tcerg1	UTSW	18	42530892	critical splice donor site	probably null
R6825:Tcerg1	UTSW	18	42548477	missense	probably damaging	0.98
R7147:Tcerg1	UTSW	18	42550063	missense	probably benign	0.22
R7714:Tcerg1	UTSW	18	42560935	missense	possibly damaging	0.77
R7739:Tcerg1	UTSW	18	42523974	missense	unknown
R7838:Tcerg1	UTSW	18	42536937	missense	probably benign	0.01
R8204:Tcerg1	UTSW	18	42574553	missense	probably damaging	1.00
R8293:Tcerg1	UTSW	18	42560955	missense	probably benign	0.03
R8300:Tcerg1	UTSW	18	42550072	missense	probably benign	0.22
R8426:Tcerg1	UTSW	18	42548401	missense	possibly damaging	0.68
R8514:Tcerg1	UTSW	18	42564122	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGCATTAGAGCTGCTCCCTGC -3'
(R):5'- GCTGAAACCGACTGACTACAGTCTC -3'

Sequencing Primer
(F):5'- GCCCCTAACTAGTCCACTTACG -3'
(R):5'- gaaaggcagaggtaggtgg -3'

Posted On

2013-09-03