Incidental Mutation 'IGL02934:Ctdspl2'
ID364248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctdspl2
Ensembl Gene ENSMUSG00000033411
Gene NameCTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2
SynonymsD2Ertd485e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock #IGL02934
Quality Score
Status
Chromosome2
Chromosomal Location121956001-122013642 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121979009 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 147 (V147A)
Ref Sequence ENSEMBL: ENSMUSP00000106207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036647] [ENSMUST00000110572] [ENSMUST00000110574] [ENSMUST00000110578]
Predicted Effect probably damaging
Transcript: ENSMUST00000036647
AA Change: V148A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047543
Gene: ENSMUSG00000033411
AA Change: V148A

DomainStartEndE-ValueType
CPDc 285 429 4.19e-71 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110572
AA Change: V148A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106201
Gene: ENSMUSG00000033411
AA Change: V148A

DomainStartEndE-ValueType
CPDc 214 358 4.19e-71 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110574
AA Change: V148A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106203
Gene: ENSMUSG00000033411
AA Change: V148A

DomainStartEndE-ValueType
CPDc 285 429 4.19e-71 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110578
AA Change: V147A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106207
Gene: ENSMUSG00000033411
AA Change: V147A

DomainStartEndE-ValueType
CPDc 284 428 4.19e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140570
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,162,359 R716* probably null Het
Abca8a A T 11: 110,040,588 N1246K probably damaging Het
Acadl A G 1: 66,836,975 Y396H probably benign Het
Apol7c A T 15: 77,526,118 S209R possibly damaging Het
Atp1a1 A T 3: 101,576,992 C990* probably null Het
Cachd1 C T 4: 100,968,098 S583L probably damaging Het
Cbfa2t3 T C 8: 122,647,758 T48A probably benign Het
Ccdc138 G T 10: 58,573,580 probably benign Het
Cenpe A G 3: 135,264,351 E2231G probably damaging Het
Cog3 T C 14: 75,741,689 I206V probably damaging Het
Cr2 A G 1: 195,154,325 probably benign Het
Cyp4f13 A G 17: 32,929,871 V300A probably damaging Het
Dkk3 A T 7: 112,150,747 M72K probably damaging Het
Dock3 A T 9: 107,023,745 F340L probably benign Het
Fut1 A G 7: 45,618,703 H27R possibly damaging Het
Igkv4-80 A G 6: 69,016,856 V17A probably benign Het
Igkv9-123 G A 6: 67,954,396 P62L possibly damaging Het
Kmt2e T C 5: 23,497,884 S1021P probably damaging Het
Krt13 A C 11: 100,119,084 L320R probably damaging Het
Ldhal6b T C 17: 5,417,544 T372A probably benign Het
Manba T C 3: 135,544,749 V379A probably benign Het
Map1b C T 13: 99,435,131 V361I probably benign Het
Map4k1 A G 7: 28,994,106 S399G probably benign Het
Mff G A 1: 82,747,094 R229H probably damaging Het
Naga T C 15: 82,330,200 N370S possibly damaging Het
Ncor2 A T 5: 125,025,557 M2045K probably benign Het
Nipal1 T C 5: 72,647,907 L7P probably damaging Het
Olfr9 T A 10: 128,990,089 M59K probably damaging Het
Pcmt1 A T 10: 7,640,727 M187K probably benign Het
Perp A T 10: 18,855,772 T160S probably damaging Het
Rapgef6 G A 11: 54,625,864 D169N probably damaging Het
Sel1l G A 12: 91,809,936 Q711* probably null Het
Sept5 T C 16: 18,629,831 Y7C probably damaging Het
Spdya A T 17: 71,556,400 N48I probably benign Het
Stard6 T A 18: 70,496,104 probably benign Het
Sytl2 T C 7: 90,375,992 V396A probably benign Het
Tcaf3 T G 6: 42,593,898 M307L probably benign Het
Tdrd6 T C 17: 43,627,887 N757D probably benign Het
Tgm1 T A 14: 55,709,989 D305V probably damaging Het
Themis2 T A 4: 132,789,551 M213L probably damaging Het
Tmem184c A G 8: 77,597,820 V347A probably damaging Het
Tmem214 A G 5: 30,871,544 E159G probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Tshz1 A T 18: 84,013,090 S1064R probably damaging Het
Ubr2 C T 17: 46,957,340 E983K possibly damaging Het
Vmn1r23 A T 6: 57,925,929 I288N probably benign Het
Vmn2r97 T C 17: 18,929,685 V445A probably benign Het
Whrn G A 4: 63,416,105 T813M probably damaging Het
Xirp2 C T 2: 67,515,676 H2754Y probably benign Het
Other mutations in Ctdspl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Ctdspl2 APN 2 121969286 splice site probably benign
IGL02282:Ctdspl2 APN 2 121977478 splice site probably benign
IGL03100:Ctdspl2 APN 2 121978913 missense probably benign 0.27
IGL03285:Ctdspl2 APN 2 121986999 missense probably damaging 0.99
R0105:Ctdspl2 UTSW 2 121977320 splice site probably benign
R0521:Ctdspl2 UTSW 2 122006887 nonsense probably null
R1406:Ctdspl2 UTSW 2 122006868 missense probably damaging 1.00
R1406:Ctdspl2 UTSW 2 122006868 missense probably damaging 1.00
R1466:Ctdspl2 UTSW 2 122003929 missense probably benign 0.40
R1466:Ctdspl2 UTSW 2 122003929 missense probably benign 0.40
R1468:Ctdspl2 UTSW 2 121981281 missense probably benign
R1468:Ctdspl2 UTSW 2 121981281 missense probably benign
R1584:Ctdspl2 UTSW 2 122003929 missense probably benign 0.40
R2199:Ctdspl2 UTSW 2 121987029 critical splice donor site probably null
R2367:Ctdspl2 UTSW 2 121987018 missense probably benign 0.33
R4868:Ctdspl2 UTSW 2 121993398 missense possibly damaging 0.61
R5158:Ctdspl2 UTSW 2 121981293 missense probably benign 0.22
R5338:Ctdspl2 UTSW 2 121981312 missense probably benign 0.15
R5391:Ctdspl2 UTSW 2 122004148 critical splice donor site probably null
R5914:Ctdspl2 UTSW 2 121978933 missense probably damaging 1.00
R6009:Ctdspl2 UTSW 2 121988838 missense probably benign 0.01
R6196:Ctdspl2 UTSW 2 121978892 splice site probably null
R6676:Ctdspl2 UTSW 2 122006964 missense probably damaging 1.00
R7469:Ctdspl2 UTSW 2 122006881 missense possibly damaging 0.66
R8170:Ctdspl2 UTSW 2 122006942 missense probably benign 0.08
X0064:Ctdspl2 UTSW 2 122003947 missense probably damaging 1.00
Posted On2015-12-18