Incidental Mutation 'R6825:Tcerg1'
ID 534134
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 044937-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6825 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 42644552-42708858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42681542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 563 (D563G)
Ref Sequence ENSEMBL: ENSMUSP00000134458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025375] [ENSMUST00000173642]
AlphaFold Q8CGF7
Predicted Effect probably damaging
Transcript: ENSMUST00000025375
AA Change: D563G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: D563G

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: D563G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: D563G

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
Meta Mutation Damage Score 0.4882 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,954,654 (GRCm39) S206T probably benign Het
Aasdh A T 5: 77,036,696 (GRCm39) probably null Het
Adam10 G T 9: 70,668,884 (GRCm39) C400F probably damaging Het
Ankle2 A T 5: 110,398,635 (GRCm39) R561S probably null Het
Arhgef5 C T 6: 43,251,895 (GRCm39) T882I probably damaging Het
Arpc1a A T 5: 145,032,936 (GRCm39) K82* probably null Het
Card11 C A 5: 140,863,837 (GRCm39) R967L probably benign Het
Ccdc82 G T 9: 13,251,601 (GRCm39) probably benign Het
Cebpz T C 17: 79,227,392 (GRCm39) D1026G probably damaging Het
Cit A T 5: 116,119,833 (GRCm39) Q1321L probably damaging Het
Clcn2 C A 16: 20,528,408 (GRCm39) probably benign Het
Csf3 G C 11: 98,593,273 (GRCm39) G130A probably damaging Het
Cul2 T A 18: 3,434,946 (GRCm39) S737T probably damaging Het
Cyp1a2 G A 9: 57,584,543 (GRCm39) H504Y probably benign Het
Cyp3a44 G A 5: 145,716,396 (GRCm39) P398L probably damaging Het
Dnah8 T C 17: 30,960,147 (GRCm39) I2206T probably damaging Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Epb41l5 A T 1: 119,547,931 (GRCm39) D157E possibly damaging Het
Ercc8 T C 13: 108,295,343 (GRCm39) S6P probably damaging Het
Faxc T C 4: 21,931,672 (GRCm39) S37P probably benign Het
Fbxl19 T A 7: 127,349,187 (GRCm39) I119K probably damaging Het
Frmd4b A G 6: 97,302,437 (GRCm39) V195A possibly damaging Het
Fut9 A T 4: 25,619,925 (GRCm39) S296R probably benign Het
Gas6 T C 8: 13,533,674 (GRCm39) N112D probably benign Het
H2-Q1 T C 17: 35,540,028 (GRCm39) L99P probably damaging Het
Helq A T 5: 100,940,561 (GRCm39) I346N probably damaging Het
Hepacam A G 9: 37,278,976 (GRCm39) K2E possibly damaging Het
Itgae T C 11: 73,009,322 (GRCm39) M502T possibly damaging Het
Kmt2a G A 9: 44,729,704 (GRCm39) probably benign Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Macf1 A T 4: 123,277,015 (GRCm39) probably null Het
Mgat4a T A 1: 37,503,515 (GRCm39) K220* probably null Het
Or2t43 T C 11: 58,457,476 (GRCm39) R232G possibly damaging Het
Or4c104 T C 2: 88,586,255 (GRCm39) I255V possibly damaging Het
Or5b3 G A 19: 13,388,514 (GRCm39) V194I probably benign Het
Pex5 A T 6: 124,391,340 (GRCm39) M18K probably damaging Het
Phlda3 T C 1: 135,694,562 (GRCm39) *126Q probably null Het
Plxna1 G T 6: 89,297,597 (GRCm39) D1862E probably benign Het
Pold4 A T 19: 4,282,164 (GRCm39) I7F possibly damaging Het
Prkaa1 A T 15: 5,173,432 (GRCm39) I19F possibly damaging Het
Prl7d1 T G 13: 27,894,125 (GRCm39) E148A probably benign Het
Prr14l A T 5: 32,985,892 (GRCm39) V1201E possibly damaging Het
Rab3gap1 T C 1: 127,858,158 (GRCm39) C510R probably damaging Het
Rhbdf1 C T 11: 32,159,970 (GRCm39) R802H probably damaging Het
Rpl18a A C 8: 71,348,836 (GRCm39) F47V probably damaging Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Sspo G A 6: 48,442,459 (GRCm39) G1985R probably benign Het
Tcaf2 C T 6: 42,606,452 (GRCm39) A501T probably benign Het
Tdh G A 14: 63,733,281 (GRCm39) T155M probably damaging Het
Tenm2 T C 11: 35,937,711 (GRCm39) N1654S probably benign Het
Tlr5 A T 1: 182,800,609 (GRCm39) probably benign Het
Tns1 G T 1: 74,041,482 (GRCm39) C136* probably null Het
Tomm5 A T 4: 45,106,443 (GRCm39) probably null Het
Trio A T 15: 27,889,394 (GRCm39) F512I probably damaging Het
Ttll5 A T 12: 85,930,102 (GRCm39) probably null Het
Upp1 T A 11: 9,081,707 (GRCm39) H81Q probably benign Het
Usp42 A G 5: 143,713,562 (GRCm39) S71P probably damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Zap70 A G 1: 36,817,471 (GRCm39) Y238C probably damaging Het
Zfp398 A G 6: 47,843,265 (GRCm39) D307G 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
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'- GGCATTTTAAACTCCATCCACAG -3'
(R):5'- TGTATCCAAACCAGAATAGCAGTC -3'

Sequencing Primer
(F):5'- TCCACAGATGAATTTGCATTTCTG -3'
(R):5'- GGGGTTAAATTCAGAGGATG -3'
Posted On 2018-09-12