Incidental Mutation 'R6979:Ctdspl'
ID 542620
Institutional Source Beutler Lab
Gene Symbol Ctdspl
Ensembl Gene ENSMUSG00000047409
Gene Name CTD small phosphatase like
Synonyms SCP3, HYA22, 2810418J22Rik
MMRRC Submission 045087-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6979 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 118755521-118873066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118869598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 227 (V227M)
Ref Sequence ENSEMBL: ENSMUSP00000133755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073109] [ENSMUST00000172464]
AlphaFold P58465
Predicted Effect probably damaging
Transcript: ENSMUST00000073109
AA Change: V238M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072852
Gene: ENSMUSG00000047409
AA Change: V238M

CPDc 105 248 1.67e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172464
AA Change: V227M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133755
Gene: ENSMUSG00000047409
AA Change: V227M

CPDc 94 237 1.67e-79 SMART
Meta Mutation Damage Score 0.1213 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (50/50)
Allele List at MGI

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

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,947,424 (GRCm39) T374M probably benign Het
Aspg A G 12: 112,087,378 (GRCm39) D278G possibly damaging Het
Aspm C A 1: 139,408,223 (GRCm39) A2370E probably damaging Het
Ccnt2 T C 1: 127,702,873 (GRCm39) M65T probably damaging Het
Cd163 A G 6: 124,294,945 (GRCm39) T670A probably benign Het
Cpne3 G A 4: 19,533,098 (GRCm39) T279I probably benign Het
Ctnnd2 A G 15: 30,619,376 (GRCm39) E99G probably damaging Het
Dapk1 T C 13: 60,896,095 (GRCm39) S728P probably damaging Het
Dmxl2 A G 9: 54,358,163 (GRCm39) I512T possibly damaging Het
Dop1a A T 9: 86,403,695 (GRCm39) T1630S possibly damaging Het
Dqx1 A G 6: 83,037,992 (GRCm39) D460G probably damaging Het
Foxg1 T C 12: 49,431,567 (GRCm39) probably benign Het
H2-Q2 T A 17: 35,564,623 (GRCm39) probably null Het
Hes6 T C 1: 91,340,810 (GRCm39) E17G possibly damaging Het
Ighv1-42 T C 12: 114,900,848 (GRCm39) Y79C possibly damaging Het
Itfg2 T C 6: 128,388,554 (GRCm39) D311G probably damaging Het
Itgb5 T A 16: 33,740,356 (GRCm39) C489S probably damaging Het
Map4k5 A T 12: 69,869,622 (GRCm39) C488S probably damaging Het
Mark1 C T 1: 184,644,825 (GRCm39) G377D possibly damaging Het
Mat2a A G 6: 72,412,096 (GRCm39) V318A probably damaging Het
Mpp7 T G 18: 7,355,049 (GRCm39) N459T possibly damaging Het
Mrc2 C A 11: 105,239,461 (GRCm39) N1348K probably damaging Het
Mroh5 T C 15: 73,664,978 (GRCm39) K264R probably benign Het
Mtor A G 4: 148,608,930 (GRCm39) M1529V possibly damaging Het
Mtrr C T 13: 68,718,122 (GRCm39) probably null Het
Nwd1 C T 8: 73,394,288 (GRCm39) P517L probably damaging Het
Or4a27 T A 2: 88,559,528 (GRCm39) R138S probably benign Het
Or8h10 A G 2: 86,808,577 (GRCm39) S188P probably damaging Het
Polr1c A G 17: 46,557,095 (GRCm39) F63L probably damaging Het
Polrmt C T 10: 79,582,400 (GRCm39) probably null Het
Pomt2 T C 12: 87,177,125 (GRCm39) I287M probably damaging Het
Prkar2a T A 9: 108,610,342 (GRCm39) N190K possibly damaging Het
Prl3d3 T A 13: 27,341,545 (GRCm39) Y59N possibly damaging Het
Prl5a1 T A 13: 28,335,189 (GRCm39) F199L probably benign Het
Prpf38b A G 3: 108,818,640 (GRCm39) V40A probably benign Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Ptgs1 A G 2: 36,141,311 (GRCm39) D586G probably benign Het
Slx4 T C 16: 3,802,879 (GRCm39) K1312E probably damaging Het
Smok3c A G 5: 138,062,987 (GRCm39) D158G probably benign Het
Spen A T 4: 141,205,374 (GRCm39) D1084E unknown Het
Tcp11l1 C T 2: 104,536,784 (GRCm39) G27D probably benign Het
Tep1 A G 14: 51,076,094 (GRCm39) S1679P possibly damaging Het
Tmem259 C T 10: 79,814,391 (GRCm39) V322I possibly damaging Het
Tmpo A T 10: 90,988,359 (GRCm39) probably null Het
Ttn C A 2: 76,555,137 (GRCm39) A30623S probably damaging Het
Ube2l3 G A 16: 16,977,841 (GRCm39) probably benign Het
Unkl A G 17: 25,418,890 (GRCm39) D146G probably damaging Het
Vmn1r51 A T 6: 90,106,186 (GRCm39) H34L possibly damaging Het
Vmn2r17 A G 5: 109,576,265 (GRCm39) T379A possibly damaging Het
Zfp35 G T 18: 24,136,927 (GRCm39) G424C probably benign Het
Zfp420 T A 7: 29,575,446 (GRCm39) H555Q probably damaging Het
Other mutations in Ctdspl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02494:Ctdspl APN 9 118,866,484 (GRCm39) missense probably damaging 1.00
R0009:Ctdspl UTSW 9 118,849,114 (GRCm39) critical splice donor site probably null
R0009:Ctdspl UTSW 9 118,849,114 (GRCm39) critical splice donor site probably null
R1531:Ctdspl UTSW 9 118,869,650 (GRCm39) missense probably damaging 1.00
R7062:Ctdspl UTSW 9 118,866,538 (GRCm39) missense probably damaging 0.99
R7233:Ctdspl UTSW 9 118,849,114 (GRCm39) critical splice donor site probably null
R9474:Ctdspl UTSW 9 118,866,445 (GRCm39) missense probably damaging 1.00
X0024:Ctdspl UTSW 9 118,866,588 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-11-28