Incidental Mutation 'R9718:Tcerg1'
ID 730641
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9718 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 42644552-42708858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42663836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 341 (T341M)
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 unknown
Transcript: ENSMUST00000025375
AA Change: T341M
SMART Domains Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: T341M

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: T341M
SMART Domains Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: T341M

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik A C 2: 32,465,247 (GRCm39) probably benign Het
Acvr1c A T 2: 58,206,007 (GRCm39) D34E probably benign Het
Arhgef19 T C 4: 140,976,603 (GRCm39) V455A probably damaging Het
Cbfa2t3 T A 8: 123,364,936 (GRCm39) D282V probably benign Het
Ccl9 T A 11: 83,466,238 (GRCm39) N114I probably benign Het
Cdan1 G T 2: 120,554,650 (GRCm39) A875E probably damaging Het
Celf2 A T 2: 6,726,349 (GRCm39) F61L probably damaging Het
Chd9 T C 8: 91,712,801 (GRCm39) Y875H unknown Het
Ckap5 A T 2: 91,379,177 (GRCm39) K39M probably benign Het
Clcn3 T C 8: 61,390,434 (GRCm39) H169R possibly damaging Het
Csmd3 C A 15: 47,560,083 (GRCm39) V1416F Het
Cyp4v3 A T 8: 45,773,703 (GRCm39) H155Q probably damaging Het
Dhx36 A G 3: 62,379,466 (GRCm39) F874S possibly damaging Het
Dnah14 A T 1: 181,450,544 (GRCm39) Q719L probably benign Het
Evi2 C T 11: 79,406,583 (GRCm39) V331M probably damaging Het
Fcgrt T G 7: 44,744,853 (GRCm39) E205A possibly damaging Het
Fkrp G T 7: 16,545,112 (GRCm39) T250N probably benign Het
Ftdc1 A G 16: 58,434,974 (GRCm39) L117S probably benign Het
Galc G A 12: 98,225,573 (GRCm39) P6S Het
Gm5134 A T 10: 75,828,331 (GRCm39) M304L possibly damaging Het
Haao T C 17: 84,142,215 (GRCm39) E208G probably damaging Het
Hook1 T A 4: 95,904,678 (GRCm39) H553Q probably benign Het
Igdcc3 A G 9: 65,090,280 (GRCm39) probably null Het
Ighv10-3 C T 12: 114,487,254 (GRCm39) V56I probably benign Het
Ighv1-62-1 G T 12: 115,350,705 (GRCm39) A15E probably benign Het
Krtap24-1 T C 16: 88,408,378 (GRCm39) *249W probably null Het
Ktn1 T G 14: 47,910,508 (GRCm39) I318R probably damaging Het
L3mbtl2 A G 15: 81,572,123 (GRCm39) T710A unknown Het
Ldha A T 7: 46,504,456 (GRCm39) Q326L possibly damaging Het
Map4 G A 9: 109,901,774 (GRCm39) probably null Het
Mdfic T A 6: 15,770,514 (GRCm39) H173Q probably damaging Het
Noxred1 T A 12: 87,271,692 (GRCm39) Q159L possibly damaging Het
Omd T C 13: 49,743,336 (GRCm39) S129P probably damaging Het
Or14j3 C T 17: 37,900,914 (GRCm39) G110D probably benign Het
Or52r1c T C 7: 102,735,196 (GRCm39) V152A probably benign Het
Parp16 A G 9: 65,141,009 (GRCm39) Y193C probably damaging Het
Pdzk1 A G 3: 96,763,174 (GRCm39) T201A Het
Phldb2 T A 16: 45,601,756 (GRCm39) H728L possibly damaging Het
Prrt1b A T 2: 29,637,548 (GRCm39) L42Q probably damaging Het
Ptchd4 C T 17: 42,813,641 (GRCm39) T514I probably damaging Het
Pusl1 T C 4: 155,976,094 (GRCm39) D24G probably benign Het
Rai1 G A 11: 60,080,165 (GRCm39) A1410T probably benign Het
Rint1 T A 5: 24,005,721 (GRCm39) H134Q possibly damaging Het
Rnf170 A G 8: 26,619,243 (GRCm39) S156G unknown Het
Rtf1 A G 2: 119,535,986 (GRCm39) D180G possibly damaging Het
Sectm1a G T 11: 120,960,490 (GRCm39) D108E probably damaging Het
Senp7 T A 16: 55,944,277 (GRCm39) D200E probably damaging Het
Sfswap A G 5: 129,616,848 (GRCm39) S431G probably benign Het
Sh3bp4 T A 1: 89,073,472 (GRCm39) D773E probably damaging Het
Shprh T C 10: 11,089,248 (GRCm39) L1662P probably damaging Het
Slx4 G T 16: 3,804,328 (GRCm39) P829T possibly damaging Het
Snapc4 A T 2: 26,268,533 (GRCm39) S43T probably damaging Het
Ssh3 C T 19: 4,312,437 (GRCm39) R636Q probably benign Het
Strn4 G A 7: 16,572,496 (GRCm39) V679M probably damaging Het
Tas2r121 T G 6: 132,677,765 (GRCm39) Y69S probably benign Het
Tjp2 A C 19: 24,078,207 (GRCm39) S895R probably damaging Het
Tmem220 G T 11: 66,916,086 (GRCm39) A28S probably damaging Het
Trdv1 G A 14: 54,119,663 (GRCm39) C109Y probably damaging Het
Trpc6 A G 9: 8,634,190 (GRCm39) Y423C probably damaging Het
Ttn T C 2: 76,625,027 (GRCm39) M15184V possibly damaging Het
Ugt2b37 T A 5: 87,390,802 (GRCm39) Y355F probably benign Het
Vnn3 C T 10: 23,745,454 (GRCm39) R468* probably null Het
Washc5 T A 15: 59,217,192 (GRCm39) T792S probably benign Het
Wdfy4 T C 14: 32,847,893 (GRCm39) M820V Het
Zfp961 T A 8: 72,721,933 (GRCm39) C149S possibly damaging Het
Zmat4 G A 8: 24,238,507 (GRCm39) V30M 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
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
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
R9781:Tcerg1 UTSW 18 42,701,030 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTCATGAGATGATGGGCC -3'
(R):5'- GGCAATTTCAAATGCAACAGAC -3'

Sequencing Primer
(F):5'- TCATGAGATGATGGGCCCTTAAATAG -3'
(R):5'- TTTCAAATGCAACAGACACATGAG -3'
Posted On 2022-10-06