Incidental Mutation 'IGL02937:Tcerg1'
ID 364346
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 # IGL02937
Quality Score
Status
Chromosome 18
Chromosomal Location 42644552-42708858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42657414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 299 (S299P)
Ref Sequence ENSEMBL: ENSMUSP00000134458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025375] [ENSMUST00000173642]
AlphaFold Q8CGF7
Predicted Effect unknown
Transcript: ENSMUST00000025375
AA Change: S299P
SMART Domains Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: S299P

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 unknown
Transcript: ENSMUST00000173642
AA Change: S299P
SMART Domains Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: S299P

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,206,049 (GRCm39) C21Y probably damaging Het
4933427D06Rik T C 6: 89,085,127 (GRCm39) noncoding transcript Het
5730480H06Rik A G 5: 48,536,783 (GRCm39) I160V probably benign Het
Arhgap29 G A 3: 121,767,698 (GRCm39) E47K probably damaging Het
Arhgef12 T A 9: 42,927,216 (GRCm39) S303C probably damaging Het
Bap1 A G 14: 30,980,284 (GRCm39) N644S probably benign Het
Cc2d1b A G 4: 108,489,091 (GRCm39) E796G probably damaging Het
Cfh C A 1: 140,033,180 (GRCm39) R788L probably benign Het
Cldn1 A G 16: 26,179,623 (GRCm39) F148S probably damaging Het
Cryzl1 A G 16: 91,487,619 (GRCm39) M292T possibly damaging Het
Cyp11b1 T C 15: 74,708,408 (GRCm39) R385G possibly damaging Het
Cyp4f37 T C 17: 32,844,163 (GRCm39) L89P probably benign Het
Dach1 A G 14: 98,153,231 (GRCm39) probably null Het
Dhtkd1 A G 2: 5,922,716 (GRCm39) I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 (GRCm39) D44E probably damaging Het
Dsg1a T A 18: 20,464,591 (GRCm39) I362N possibly damaging Het
Ecm2 T A 13: 49,671,952 (GRCm39) I151N probably damaging Het
Far1 T A 7: 113,139,855 (GRCm39) I101N probably damaging Het
Gm21985 T C 2: 112,172,207 (GRCm39) S384P probably benign Het
Gnb5 T C 9: 75,247,471 (GRCm39) Y247H probably damaging Het
Golgb1 A G 16: 36,736,572 (GRCm39) K1940E probably damaging Het
Gprc5b A G 7: 118,583,017 (GRCm39) V284A probably benign Het
Idh2 T C 7: 79,748,661 (GRCm39) Y179C probably damaging Het
Kalrn G A 16: 34,040,500 (GRCm39) Q737* probably null Het
Kcnj13 T C 1: 87,314,175 (GRCm39) D349G probably damaging Het
Lgsn A T 1: 31,243,318 (GRCm39) T467S possibly damaging Het
Map9 T A 3: 82,270,819 (GRCm39) S128T possibly damaging Het
Mroh5 A G 15: 73,661,827 (GRCm39) C455R probably damaging Het
Nes A G 3: 87,887,186 (GRCm39) H1771R probably benign Het
Nkain2 T C 10: 32,205,840 (GRCm39) Y65C probably damaging Het
Or51a43 T A 7: 103,718,056 (GRCm39) M61L probably damaging Het
Or51b6b A T 7: 103,310,112 (GRCm39) V115D probably damaging Het
Or6aa1 T C 7: 86,043,798 (GRCm39) K303E possibly damaging Het
Pabpc4l A C 3: 46,400,725 (GRCm39) D306E probably benign Het
Parp12 A T 6: 39,079,515 (GRCm39) Y332N probably damaging Het
Parvb A T 15: 84,193,154 (GRCm39) K316M probably damaging Het
Pde8a T A 7: 80,945,519 (GRCm39) probably benign Het
Polq A G 16: 36,833,471 (GRCm39) T55A probably benign Het
Ppp2r5b T A 19: 6,281,016 (GRCm39) K271M probably damaging Het
Ralgapb A G 2: 158,334,936 (GRCm39) probably null Het
Rigi C T 4: 40,229,661 (GRCm39) C86Y probably benign Het
Skap2 T C 6: 51,886,351 (GRCm39) N175D probably benign Het
Slc44a3 A G 3: 121,303,970 (GRCm39) probably benign Het
Smurf2 G A 11: 106,736,873 (GRCm39) H318Y probably damaging Het
Tbc1d23 T C 16: 57,004,778 (GRCm39) T460A possibly damaging Het
Tll1 A C 8: 64,658,319 (GRCm39) Y33* probably null Het
Tmem59 A T 4: 107,054,782 (GRCm39) T196S probably damaging Het
Ttll4 C A 1: 74,718,662 (GRCm39) A171D possibly damaging Het
Ttn T C 2: 76,641,513 (GRCm39) T13528A possibly damaging Het
Ttn A G 2: 76,717,621 (GRCm39) probably benign Het
Xpc C A 6: 91,477,119 (GRCm39) G327W probably damaging Het
Zbtb7a A G 10: 80,980,132 (GRCm39) S109G probably benign Het
Zfyve26 T C 12: 79,285,794 (GRCm39) M2328V probably benign 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
IGL01832:Tcerg1 APN 18 42,707,620 (GRCm39) missense probably damaging 0.99
IGL01985:Tcerg1 APN 18 42,663,721 (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 2015-12-18