Incidental Mutation 'IGL02494:Ctdspl'
ID 295775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctdspl
Ensembl Gene ENSMUSG00000047409
Gene Name CTD small phosphatase like
Synonyms SCP3, HYA22, 2810418J22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02494
Quality Score
Chromosome 9
Chromosomal Location 118755521-118873066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118866484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 181 (L181P)
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: L192P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072852
Gene: ENSMUSG00000047409
AA Change: L192P

CPDc 105 248 1.67e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172464
AA Change: L181P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133755
Gene: ENSMUSG00000047409
AA Change: L181P

CPDc 94 237 1.67e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174841
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 (GRCm39) C178Y possibly damaging Het
Arg2 A G 12: 79,198,697 (GRCm39) R242G probably benign Het
Ash1l T A 3: 88,973,525 (GRCm39) L2528* probably null Het
Astn2 T A 4: 65,910,585 (GRCm39) M468L probably benign Het
Bglap2 A T 3: 88,285,243 (GRCm39) C74* probably null Het
Cand1 A G 10: 119,049,522 (GRCm39) V408A probably benign Het
Ccdc14 A G 16: 34,543,784 (GRCm39) Y714C probably damaging Het
Ccdc88c C T 12: 100,911,734 (GRCm39) G707D probably benign Het
Cdk13 G A 13: 17,913,710 (GRCm39) R890* probably null Het
Cep192 A G 18: 67,937,453 (GRCm39) E61G probably benign Het
Dock7 C T 4: 98,877,471 (GRCm39) V442M probably benign Het
Dop1a T C 9: 86,408,871 (GRCm39) V1860A probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fscn2 G A 11: 120,253,228 (GRCm39) V232M probably benign Het
Gemin5 A T 11: 58,012,583 (GRCm39) C1458S probably benign Het
Glrb A G 3: 80,752,539 (GRCm39) V408A probably benign Het
Gtse1 C T 15: 85,751,704 (GRCm39) P299L probably damaging Het
Hcfc1r1 T A 17: 23,893,559 (GRCm39) M46K probably damaging Het
Hdc A G 2: 126,436,041 (GRCm39) F610S probably benign Het
Hip1 A T 5: 135,473,645 (GRCm39) C224* probably null Het
Hsd17b10 G T X: 150,787,230 (GRCm39) A241S probably benign Het
Igsf10 G T 3: 59,235,427 (GRCm39) Q1585K probably damaging Het
Kat2b T C 17: 53,960,233 (GRCm39) Y514H probably damaging Het
Krt78 T C 15: 101,862,486 (GRCm39) I58M probably benign Het
Lcat C A 8: 106,668,571 (GRCm39) probably benign Het
Naca G A 10: 127,877,179 (GRCm39) probably benign Het
Nbea T C 3: 55,712,772 (GRCm39) K2102E probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or1e35 A C 11: 73,797,550 (GRCm39) I256S possibly damaging Het
Or4b1b G A 2: 90,112,295 (GRCm39) S208F probably benign Het
Or4n4 A T 14: 50,519,683 (GRCm39) V9D probably damaging Het
Or7c19 C A 8: 85,957,312 (GRCm39) L63I possibly damaging Het
Patj T A 4: 98,592,224 (GRCm39) probably benign Het
Pcdhb17 G A 18: 37,618,347 (GRCm39) A46T possibly damaging Het
Phf8 T C X: 150,408,227 (GRCm39) V859A probably benign Het
Plec T A 15: 76,060,979 (GRCm39) E3054V probably damaging Het
Prr12 C A 7: 44,678,270 (GRCm39) K1958N unknown Het
Psmf1 A G 2: 151,582,929 (GRCm39) probably null Het
Rsu1 T C 2: 13,222,002 (GRCm39) probably null Het
Samm50 T C 15: 84,080,015 (GRCm39) V31A probably benign Het
St14 A G 9: 31,019,941 (GRCm39) V56A possibly damaging Het
Trpc1 T C 9: 95,590,360 (GRCm39) N699S probably damaging Het
Ttn A T 2: 76,574,144 (GRCm39) M25583K probably damaging Het
Utrn A G 10: 12,585,798 (GRCm39) V993A probably benign Het
Other mutations in Ctdspl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6979:Ctdspl UTSW 9 118,869,598 (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
Posted On 2015-04-16