Incidental Mutation 'IGL02953:Tcerg1'
ID364992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcerg1
Ensembl Gene ENSMUSG00000024498
Gene Nametranscription elongation regulator 1 (CA150)
SynonymsTaf2s, 2410022J09Rik, 2900090C16Rik, Fbp28, p144, ca150
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02953
Quality Score
Status
Chromosome18
Chromosomal Location42511510-42575551 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 42548470 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 561 (P561S)
Ref Sequence ENSEMBL: ENSMUSP00000134458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025375] [ENSMUST00000173642]
Predicted Effect probably damaging
Transcript: ENSMUST00000025375
AA Change: P561S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: P561S

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 damaging
Transcript: ENSMUST00000173642
AA Change: P561S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: P561S

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,773,646 S169P possibly damaging Het
Adap2 G A 11: 80,154,300 G29R probably damaging Het
Adcy2 A T 13: 68,729,328 I431N probably damaging Het
Amer3 T C 1: 34,587,796 V372A probably damaging Het
Aspm T A 1: 139,457,419 V267D probably benign Het
Atp6v0b A T 4: 117,885,222 V111E probably damaging Het
Clmp T A 9: 40,774,387 L193Q probably damaging Het
Dcaf7 T G 11: 106,051,876 Y216* probably null Het
Dcbld2 T A 16: 58,451,737 D385E probably benign Het
Des T A 1: 75,363,644 D398E possibly damaging Het
Fancm C T 12: 65,121,966 T1701I probably benign Het
Fat1 C A 8: 45,024,314 D2132E probably damaging Het
Fkbp14 T C 6: 54,579,682 K161R probably damaging Het
Fopnl T C 16: 14,304,475 K142E probably benign Het
Fuca2 C T 10: 13,507,429 probably benign Het
Gm4763 C T 7: 24,723,566 C109Y probably damaging Het
Habp2 T A 19: 56,314,232 probably null Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Herc3 C T 6: 58,857,733 Q242* probably null Het
Igkv4-81 T C 6: 68,990,997 K40R probably benign Het
Irf5 C A 6: 29,536,672 H461N possibly damaging Het
Nav2 G A 7: 49,548,423 V1267M probably damaging Het
Nlk A G 11: 78,626,701 V155A probably benign Het
Nup214 C T 2: 31,988,229 H303Y possibly damaging Het
Pld1 A C 3: 28,112,247 M812L probably benign Het
Rab11fip3 C A 17: 26,067,679 R500L possibly damaging Het
Secisbp2l C T 2: 125,760,274 E389K probably benign Het
Serpina3a C T 12: 104,116,489 R174C probably benign Het
Spef2 T C 15: 9,713,243 R405G possibly damaging Het
Srpx A T X: 10,117,467 probably benign Het
St18 T A 1: 6,844,113 probably benign Het
Topbp1 T A 9: 103,328,435 N757K probably benign Het
Trrap G T 5: 144,815,964 L1782F probably damaging Het
Tut1 G T 19: 8,962,692 V347L probably damaging Het
Txnip T A 3: 96,558,366 V44D probably damaging Het
Usp8 C T 2: 126,737,937 T369I probably benign Het
Zzef1 A G 11: 72,855,398 N842S probably benign Het
Other mutations in Tcerg1
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL01314:Tcerg1 APN 18 42573309 missense probably damaging 1.00
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
IGL03082:Tcerg1 APN 18 42573357 missense probably damaging 1.00
tarantula UTSW 18 42536348 missense probably damaging 0.98
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 unclassified 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
Posted On2015-12-18