Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01314:Tcerg1'

73775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcerg1

Ensembl Gene

ENSMUSG00000024498

Gene Name

transcription elongation regulator 1 (CA150)

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

42511510-42575551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42573309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 1017 (A1017D)

Ref Sequence

ENSEMBL: ENSMUSP00000134458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025375] [ENSMUST00000054738] [ENSMUST00000173642]

AlphaFold

Q8CGF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000025375
AA Change: A1017D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: A1017D

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: ENSMUST00000054738

SMART Domains

Protein: ENSMUSP00000058887
Gene: ENSMUSG00000042816

Domain	Start	End	E-Value	Type
Pfam:7tm_1	57	310	1.6e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173642
AA Change: A1017D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: A1017D

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	A	C	10: 100,573,611	D313E	probably damaging	Het
Adamts12	C	T	15: 11,071,853	A161V	probably benign	Het
Bptf	A	T	11: 107,054,853	V2520E	probably damaging	Het
C87436	T	C	6: 86,457,855	F395S	probably damaging	Het
Capn1	T	C	19: 5,989,984		probably benign	Het
Ceacam5	T	A	7: 17,747,256	Y309*	probably null	Het
Clasp2	A	G	9: 113,906,127	D1011G	possibly damaging	Het
Csmd3	A	G	15: 47,849,755	Y1608H	probably damaging	Het
Dcaf1	T	C	9: 106,834,191	I77T	probably benign	Het
Dcdc2a	T	C	13: 25,102,604	L170P	probably damaging	Het
Ddx28	A	G	8: 106,010,580	F282S	probably damaging	Het
Egf	A	G	3: 129,686,260	I497T	probably benign	Het
Emsy	A	G	7: 98,593,455	V1159A	probably benign	Het
Fam46c	T	C	3: 100,473,174	K89E	probably benign	Het
Hk3	C	A	13: 55,007,063		probably benign	Het
Htt	A	G	5: 34,878,856	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,683,750	S45*	probably null	Het
Irf8	A	G	8: 120,753,380	Y119C	probably damaging	Het
Klk1b4	T	C	7: 44,211,176		probably null	Het
Macf1	A	G	4: 123,486,720	S1273P	probably damaging	Het
Man2c1	A	T	9: 57,141,819	H867L	probably benign	Het
Mgat4e	T	C	1: 134,541,449	T286A	probably damaging	Het
Mug2	T	C	6: 122,081,279	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079	E128D	probably damaging	Het
Olfr1331	G	A	4: 118,869,131	V117I	probably benign	Het
Pds5a	A	G	5: 65,615,294	V1322A	probably benign	Het
Poc1b	C	T	10: 99,129,641	T144I	probably damaging	Het
Prcc	T	A	3: 87,870,080	N196Y	probably damaging	Het
Psma5	G	A	3: 108,279,795	V237M	possibly damaging	Het
Rap1gds1	A	G	3: 139,050,561	L11P	probably damaging	Het
Rapgef3	A	G	15: 97,748,223	F132S	probably damaging	Het
Rgs13	T	G	1: 144,171,441	D14A	probably benign	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Tmem79	T	C	3: 88,332,576	I276V	possibly damaging	Het
Tmem94	C	A	11: 115,790,009	H113N	probably damaging	Het
Vil1	G	A	1: 74,428,238	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,582,964	T187A	probably benign	Het
Zfhx4	T	A	3: 5,413,094	S3590T	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
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
R0731:Tcerg1	UTSW	18	42571840	missense	probably damaging	0.99
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
R8672:Tcerg1	UTSW	18	42553494	missense	probably damaging	1.00
R9367:Tcerg1	UTSW	18	42552508	missense	possibly damaging	0.93
R9715:Tcerg1	UTSW	18	42573348	missense	probably damaging	0.99
R9718:Tcerg1	UTSW	18	42530771	missense	unknown
R9781:Tcerg1	UTSW	18	42567965	missense	probably damaging	1.00

Posted On

2013-10-07