Incidental Mutation 'IGL02490:Cwc15'
ID 295595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cwc15
Ensembl Gene ENSMUSG00000004096
Gene Name CWC15 spliceosome-associated protein
Synonyms 0610040D20Rik, 2900052N06Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # IGL02490
Quality Score
Status
Chromosome 9
Chromosomal Location 14411913-14421873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14413320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 34 (D34V)
Ref Sequence ENSEMBL: ENSMUSP00000151148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004200] [ENSMUST00000058796] [ENSMUST00000115647] [ENSMUST00000213913] [ENSMUST00000215143]
AlphaFold Q9JHS9
Predicted Effect probably damaging
Transcript: ENSMUST00000004200
AA Change: D34V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000004200
Gene: ENSMUSG00000004096
AA Change: D34V

DomainStartEndE-ValueType
Pfam:Cwf_Cwc_15 1 229 1.5e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058796
SMART Domains Protein: ENSMUSP00000061632
Gene: ENSMUSG00000053914

DomainStartEndE-ValueType
Pfam:JmjN 16 50 3.3e-15 PFAM
JmjC 143 309 2.3e-57 SMART
low complexity region 370 383 N/A INTRINSIC
low complexity region 417 434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115647
SMART Domains Protein: ENSMUSP00000111311
Gene: ENSMUSG00000053914

DomainStartEndE-ValueType
Pfam:JmjN 16 50 1.1e-16 PFAM
JmjC 143 309 2.3e-57 SMART
low complexity region 370 383 N/A INTRINSIC
low complexity region 417 434 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213913
AA Change: D34V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215143
AA Change: D34V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,078,559 (GRCm39) noncoding transcript Het
Adam5 A T 8: 25,271,720 (GRCm39) Y562* probably null Het
Akr1d1 T C 6: 37,535,423 (GRCm39) V269A probably damaging Het
Anks4b A G 7: 119,773,241 (GRCm39) T34A probably damaging Het
Arhgef40 A G 14: 52,226,652 (GRCm39) N232S probably damaging Het
Cdc40 C T 10: 40,717,767 (GRCm39) V379I probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh13 A G 8: 119,822,062 (GRCm39) D307G probably damaging Het
Ces1h A G 8: 94,083,627 (GRCm39) probably null Het
Chchd6 T A 6: 89,361,656 (GRCm39) H249L possibly damaging Het
Clxn T A 16: 14,734,810 (GRCm39) V60E probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Cyp2c39 T C 19: 39,527,446 (GRCm39) I264T probably damaging Het
Dapk1 A G 13: 60,897,148 (GRCm39) D789G probably damaging Het
Dcdc2a T A 13: 25,291,635 (GRCm39) Y207N probably damaging Het
Flt3 T A 5: 147,268,106 (GRCm39) N960Y probably damaging Het
Fmn1 C T 2: 113,359,817 (GRCm39) probably benign Het
Foxm1 T A 6: 128,350,314 (GRCm39) C400* probably null Het
Ftmt A C 18: 52,464,760 (GRCm39) R25S probably benign Het
Guca1b T C 17: 47,700,190 (GRCm39) probably benign Het
Hectd4 A T 5: 121,456,676 (GRCm39) K680N possibly damaging Het
Hephl1 C A 9: 14,964,981 (GRCm39) R1138L probably benign Het
Il1rl2 T A 1: 40,395,972 (GRCm39) probably benign Het
Ints2 A T 11: 86,124,009 (GRCm39) I593K possibly damaging Het
Iqcg T A 16: 32,855,937 (GRCm39) K213* probably null Het
Kif1b T A 4: 149,288,665 (GRCm39) S1259C probably benign Het
Klc1 C T 12: 111,748,210 (GRCm39) T371M possibly damaging Het
Loxl4 T C 19: 42,593,269 (GRCm39) T301A probably benign Het
Lrrc40 T C 3: 157,768,336 (GRCm39) L497P probably damaging Het
Masp2 C T 4: 148,692,400 (GRCm39) R298W possibly damaging Het
Myo5a A T 9: 75,043,737 (GRCm39) Y242F probably damaging Het
Nup98 A G 7: 101,801,573 (GRCm39) V784A probably damaging Het
Or5w15 T C 2: 87,568,299 (GRCm39) Y123C probably damaging Het
Osbpl1a G T 18: 13,015,341 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,334,922 (GRCm39) Y412C probably damaging Het
Pfkfb2 T A 1: 130,628,589 (GRCm39) Y339F probably damaging Het
Plcb2 T C 2: 118,550,241 (GRCm39) N172D probably damaging Het
Plec T C 15: 76,073,463 (GRCm39) Y517C probably damaging Het
Plod2 G T 9: 92,468,895 (GRCm39) A207S probably benign Het
Plxdc1 A T 11: 97,845,604 (GRCm39) D229E probably benign Het
Ppp3cb A G 14: 20,581,726 (GRCm39) probably null Het
Procr T C 2: 155,595,352 (GRCm39) L52P probably damaging Het
Psme2b G T 11: 48,836,946 (GRCm39) probably benign Het
Rgs22 G A 15: 36,054,993 (GRCm39) A727V probably damaging Het
Rock2 T A 12: 16,998,564 (GRCm39) W277R probably damaging Het
Rpl26 A G 11: 68,795,216 (GRCm39) D112G probably damaging Het
Rxfp1 C A 3: 79,559,474 (GRCm39) probably null Het
Sdr39u1 G A 14: 56,135,798 (GRCm39) P98L probably damaging Het
Sgms1 T C 19: 32,137,543 (GRCm39) K8E probably damaging Het
Stk31 T C 6: 49,394,469 (GRCm39) V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,797,588 (GRCm39) E79A probably benign Het
Ttll6 A T 11: 96,047,546 (GRCm39) D715V possibly damaging Het
Ush2a T C 1: 188,542,561 (GRCm39) S3376P probably damaging Het
Vmn2r109 T A 17: 20,761,246 (GRCm39) T704S possibly damaging Het
Zfp27 T A 7: 29,594,360 (GRCm39) H535L possibly damaging Het
Zfp609 A T 9: 65,611,250 (GRCm39) V571D possibly damaging Het
Zfp874a A T 13: 67,590,819 (GRCm39) Y288* probably null Het
Zfp993 T C 4: 146,742,074 (GRCm39) S133P probably damaging Het
Other mutations in Cwc15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02249:Cwc15 APN 9 14,414,977 (GRCm39) missense probably benign 0.00
R1061:Cwc15 UTSW 9 14,419,211 (GRCm39) missense probably damaging 1.00
R1732:Cwc15 UTSW 9 14,421,543 (GRCm39) missense probably benign 0.00
R5115:Cwc15 UTSW 9 14,419,192 (GRCm39) missense probably benign 0.01
R5373:Cwc15 UTSW 9 14,416,234 (GRCm39) missense possibly damaging 0.93
R5374:Cwc15 UTSW 9 14,416,234 (GRCm39) missense possibly damaging 0.93
R6273:Cwc15 UTSW 9 14,421,537 (GRCm39) missense probably benign
R6537:Cwc15 UTSW 9 14,413,284 (GRCm39) missense probably damaging 1.00
R7297:Cwc15 UTSW 9 14,421,525 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16