Incidental Mutation 'R0009:Ctdspl'
ID8060
Institutional Source Beutler Lab
Gene Symbol Ctdspl
Ensembl Gene ENSMUSG00000047409
Gene NameCTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like
SynonymsSCP3, 2810418J22Rik, HYA22
MMRRC Submission 038304-MU
Accession Numbers

Ncbi RefSeq: NM_133710.3; MGI:1916524

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0009 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location118926453-119043998 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 119020046 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000072852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073109] [ENSMUST00000172464]
Predicted Effect probably null
Transcript: ENSMUST00000073109
SMART Domains Protein: ENSMUSP00000072852
Gene: ENSMUSG00000047409

DomainStartEndE-ValueType
CPDc 105 248 1.67e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172464
SMART Domains Protein: ENSMUSP00000133755
Gene: ENSMUSG00000047409

DomainStartEndE-ValueType
CPDc 94 237 1.67e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174841
Meta Mutation Damage Score 0.9488 question?
Coding Region Coverage
  • 1x: 79.7%
  • 3x: 70.1%
  • 10x: 44.5%
  • 20x: 24.1%
Validation Efficiency 93% (78/84)
Allele List at MGI

All alleles(10) : Targeted(1) Gene trapped(9)

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,919,633 probably benign Het
Afm C A 5: 90,545,384 probably benign Het
Aplnr T A 2: 85,137,276 probably null Het
Arih2 T A 9: 108,611,727 H264L probably damaging Het
Ccdc116 T C 16: 17,144,039 E15G probably damaging Het
Cfap53 A G 18: 74,299,176 H45R probably benign Het
Chd3 A G 11: 69,349,906 L1569P probably damaging Het
Cntn2 G A 1: 132,516,180 Q457* probably null Het
Coro1a A T 7: 126,701,413 probably benign Het
Cracr2b T A 7: 141,463,759 L91Q probably damaging Het
Dnase1 T C 16: 4,038,946 V147A probably damaging Het
Glud1 G A 14: 34,334,268 G300S probably benign Het
Gm4847 C T 1: 166,630,486 V433I probably benign Het
Herc2 T C 7: 56,207,812 S4048P probably benign Het
Hp1bp3 T A 4: 138,221,683 I19K probably benign Het
Il1a C T 2: 129,309,074 D10N probably damaging Het
Il22ra2 A T 10: 19,624,458 N39I probably damaging Het
Magi2 A T 5: 20,611,055 Y747F probably benign Het
Mcc C T 18: 44,445,933 E803K probably damaging Het
Rims2 T A 15: 39,534,966 M1087K probably damaging Het
Riox2 C A 16: 59,489,367 D361E probably benign Het
Slc35e1 A T 8: 72,484,709 N318K probably damaging Het
Slc9a2 A T 1: 40,763,602 E604V probably benign Het
Tbx19 A T 1: 165,160,520 S15T possibly damaging Het
Tm4sf5 C T 11: 70,510,712 A179V probably damaging Het
Trappc11 A T 8: 47,503,320 C874S possibly damaging Het
Trpm3 T A 19: 22,914,446 Y885N probably damaging Het
Unc5a T A 13: 55,002,879 C505S probably damaging Het
Xpo5 T C 17: 46,204,786 probably benign Het
Other mutations in Ctdspl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02494:Ctdspl APN 9 119037416 missense probably damaging 1.00
R0009:Ctdspl UTSW 9 119020046 critical splice donor site probably null
R1531:Ctdspl UTSW 9 119040582 missense probably damaging 1.00
R6979:Ctdspl UTSW 9 119040530 missense probably damaging 1.00
R7062:Ctdspl UTSW 9 119037470 missense probably damaging 0.99
R7233:Ctdspl UTSW 9 119020046 critical splice donor site probably null
X0024:Ctdspl UTSW 9 119037520 missense probably damaging 1.00
Protein Function and Prediction

Ctdspl encodes the ubiquitously expressed small C-terminal domain (CTD) phosphatase 3 (SCP3) (1), a member of the SCP family of phosphatases that functions in dephosphorylates serine five of the CTD consensus sequence on RNA polymerase II (2).  SCP3 has been identified as a tumor suppressor of epithelial malignancies, possibly through the dephosphorylation of ppRB that blocks the cell cycle at G1/S (3).  Alterations in CTDSPL are also linked to early and late-onset breast carcinoma (4), non-small cell lung cancer (5;6), cervical carcinoma  (7;8), and dysplastic lesions of the head and neck (9). Along with SCP1 and SCP2, SCP3 can dephosphorylate Smad1 to inhibit BMP signaling and subsequent osteoblast differentiation (10;11).  Also they can serve as a Smad2/3 linker to enhance TGFβ signaling (12;13).

References
Posted On2012-11-20
Science WriterAnne Murray