Incidental Mutation 'IGL01832:Tcerg1'
ID 154811
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 # IGL01832
Quality Score
Status
Chromosome 18
Chromosomal Location 42644552-42708858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42707620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1047 (K1047E)
Ref Sequence ENSEMBL: ENSMUSP00000025375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025375] [ENSMUST00000054738] [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 damaging
Transcript: ENSMUST00000025375
AA Change: K1047E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: K1047E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:7tm_1 57 310 1.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173642
SMART Domains Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498

DomainStartEndE-ValueType
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Tcerg1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2014-02-04