Mutagenetix > Incidental Mutation

Incidental Mutation 'R6128:Tcerg1'

501824

Institutional Source

Beutler Lab

Gene Symbol

Tcerg1

Ensembl Gene

ENSMUSG00000024498

Gene Name

transcription elongation regulator 1 (CA150)

Synonyms

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

MMRRC Submission

044275-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6128 (G1)

Quality Score

171.009

Status

Not validated

Chromosome

Chromosomal Location

42644552-42708858 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 42644563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025375 (fasta)

Gene Model

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

AlphaFold

Q8CGF7

PDB Structure

FBP28WW DOMAIN FROM MUS MUSCULUS [SOLUTION NMR]
FBP28WW2 domain in complex with the PPLIPPPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with PTPPPLPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with a PPPLIPPPP peptide [SOLUTION NMR]
Solution structure of the first WW domain from the mouse transcription elongation regulator 1, transcription factor CA150 [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000025375

SMART Domains

Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498

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

SMART Domains

Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
A430033K04Rik	A	G	5: 138,646,038 (GRCm39)	H641R	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Asah1	C	T	8: 41,807,092 (GRCm39)	V111M	probably damaging	Het
Ascc3	T	C	10: 50,526,734 (GRCm39)	L611P	probably damaging	Het
Atl2	C	A	17: 80,172,470 (GRCm39)		probably null	Het
Bhlhe22	A	T	3: 18,109,987 (GRCm39)	S346C	probably damaging	Het
Bicc1	T	C	10: 70,776,313 (GRCm39)		probably null	Het
Bptf	G	T	11: 106,965,516 (GRCm39)	A1163D	possibly damaging	Het
Bub1b	T	A	2: 118,448,293 (GRCm39)	C382S	probably benign	Het
Carmil1	A	T	13: 24,197,177 (GRCm39)	Y158*	probably null	Het
Ccdc175	A	T	12: 72,175,933 (GRCm39)	I473K	probably benign	Het
Ccdc18	A	G	5: 108,311,625 (GRCm39)	I444V	possibly damaging	Het
Cep131	T	A	11: 119,956,801 (GRCm39)	I880F	probably damaging	Het
Ces2e	T	A	8: 105,655,428 (GRCm39)	I117N	probably benign	Het
Clk2	C	T	3: 89,081,531 (GRCm39)	T289M	probably damaging	Het
Crocc2	A	T	1: 93,122,123 (GRCm39)	D672V	probably benign	Het
Cul7	T	A	17: 46,962,588 (GRCm39)	I73N	probably damaging	Het
Cyp2d12	C	A	15: 82,443,166 (GRCm39)	D358E	probably benign	Het
Cyp7a1	A	G	4: 6,272,788 (GRCm39)	S142P	possibly damaging	Het
Daw1	T	A	1: 83,183,647 (GRCm39)	C232*	probably null	Het
Dhx9	T	C	1: 153,353,835 (GRCm39)	K195R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpp3	A	G	19: 4,972,420 (GRCm39)	V168A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ercc6l2	T	C	13: 64,001,563 (GRCm39)	V459A	probably damaging	Het
Erp44	A	T	4: 48,243,493 (GRCm39)	N38K	probably damaging	Het
Fam135a	A	G	1: 24,069,821 (GRCm39)		probably null	Het
Fblim1	G	A	4: 141,312,033 (GRCm39)	R231C	probably damaging	Het
Fdps	T	C	3: 89,006,740 (GRCm39)	E117G	possibly damaging	Het
Gbp4	A	C	5: 105,283,030 (GRCm39)	V80G	possibly damaging	Het
Glt1d1	A	T	5: 127,754,335 (GRCm39)	D179V	probably damaging	Het
Gtf2a1l	T	A	17: 89,002,086 (GRCm39)	V314E	probably null	Het
Gzmf	G	T	14: 56,443,443 (GRCm39)	Y178*	probably null	Het
Hira	C	T	16: 18,751,727 (GRCm39)	P509S	probably benign	Het
Ifi44	T	C	3: 151,454,823 (GRCm39)	N134S	probably benign	Het
Igfbp2	T	A	1: 72,863,958 (GRCm39)	C74S	probably damaging	Het
Il24	A	G	1: 130,813,435 (GRCm39)	L54P	probably damaging	Het
Ints10	T	C	8: 69,274,904 (GRCm39)		probably null	Het
Ipo9	A	G	1: 135,318,311 (GRCm39)	C700R	possibly damaging	Het
Kalrn	T	A	16: 34,033,255 (GRCm39)	Q469L	probably damaging	Het
Lrp1b	T	G	2: 40,750,667 (GRCm39)	I2966L	probably benign	Het
Lta	C	A	17: 35,422,817 (GRCm39)	V169L	possibly damaging	Het
Lyst	T	C	13: 13,933,964 (GRCm39)	V3554A	possibly damaging	Het
Mobp	A	G	9: 119,997,392 (GRCm39)		probably benign	Het
Myorg	T	A	4: 41,498,445 (GRCm39)	N395I	probably damaging	Het
Or10d1	C	G	9: 39,484,549 (GRCm39)	R2T	probably benign	Het
Or4b1d	A	T	2: 89,968,954 (GRCm39)	C176*	probably null	Het
Or8c14-ps1	T	C	9: 38,101,299 (GRCm39)	S93P	probably benign	Het
Pacs1	A	T	19: 5,202,400 (GRCm39)		probably null	Het
Phf21a	G	T	2: 92,181,953 (GRCm39)		probably null	Het
Pick1	T	A	15: 79,123,896 (GRCm39)	M89K	probably damaging	Het
Pik3cb	T	C	9: 98,946,152 (GRCm39)	D558G	possibly damaging	Het
Pnma8a	A	G	7: 16,694,661 (GRCm39)	D172G	probably benign	Het
Polr2a	A	C	11: 69,627,803 (GRCm39)	V1368G	probably damaging	Het
Pomt2	A	G	12: 87,158,109 (GRCm39)		probably null	Het
Pou2f1	T	C	1: 165,703,056 (GRCm39)		probably benign	Het
Rnf145	T	C	11: 44,446,018 (GRCm39)	V284A	probably damaging	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr3	C	T	2: 112,784,639 (GRCm39)		probably null	Het
Scamp1	A	C	13: 94,344,735 (GRCm39)	L202R	possibly damaging	Het
Snx25	C	T	8: 46,558,240 (GRCm39)	V110I	probably benign	Het
Spata31e2	G	A	1: 26,724,506 (GRCm39)	P225S	probably benign	Het
Susd6	T	A	12: 80,915,388 (GRCm39)	H124Q	possibly damaging	Het
Tarm1	T	C	7: 3,537,720 (GRCm39)	T248A	probably benign	Het
Tc2n	A	G	12: 101,675,748 (GRCm39)	M1T	probably null	Het
Ticrr	C	A	7: 79,343,716 (GRCm39)	P1194T	probably damaging	Het
Trim31	T	G	17: 37,220,491 (GRCm39)	V469G	probably benign	Het
Vcp	T	C	4: 42,980,941 (GRCm39)	E723G	probably benign	Het
Vmn1r177	C	A	7: 23,565,267 (GRCm39)	S203I	probably damaging	Het
Vmn1r177	T	A	7: 23,565,268 (GRCm39)	S203C	probably damaging	Het
Vmn1r210	A	T	13: 23,012,277 (GRCm39)	L3*	probably null	Het
Wdr27	T	A	17: 15,152,796 (GRCm39)	R104*	probably null	Het
Wnk1	A	C	6: 119,940,747 (GRCm39)		probably null	Het
Zfp157	A	G	5: 138,453,281 (GRCm39)	E88G	possibly damaging	Het
Zfp708	A	T	13: 67,222,965 (GRCm39)	L22Q	probably damaging	Het
Zfp788	T	C	7: 41,299,785 (GRCm39)	F787S	probably damaging	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
IGL00708:Tcerg1	APN	18	42,704,190 (GRCm39)	missense	probably benign	0.38
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
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

Predicted Primers

PCR Primer
(F):5'- GTCTCAATACCGCTTTCAAAGTC -3'
(R):5'- TCAGGGCTGCGAATCTTGAC -3'

Sequencing Primer
(F):5'- TTTCAAAGTCGGCGGGC -3'
(R):5'- AGCCCGGCTCTCATTCAAG -3'

Posted On

2017-12-04