Incidental Mutation 'R2394:Cwc27'
ID 247924
Institutional Source Beutler Lab
Gene Symbol Cwc27
Ensembl Gene ENSMUSG00000021715
Gene Name CWC27 spliceosome-associated protein
Synonyms NY-CO-10, 3110009E13Rik, Sdccag10
MMRRC Submission 040362-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2394 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 104767648-104953649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 104932942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 253 (D253E)
Ref Sequence ENSEMBL: ENSMUSP00000022228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022228]
AlphaFold Q3TKY6
Predicted Effect probably benign
Transcript: ENSMUST00000022228
AA Change: D253E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715
AA Change: D253E

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 166 3.4e-47 PFAM
low complexity region 176 197 N/A INTRINSIC
low complexity region 209 217 N/A INTRINSIC
coiled coil region 309 341 N/A INTRINSIC
low complexity region 452 469 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147514
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (41/41)
MGI Phenotype PHENOTYPE: Homozygous mutant mice exhibit reduced viability. Surviors after birth show signs of growth retardation and retinal depigmentation, along with numerous neurological, immunological, and blood chemistry abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik A T 7: 29,980,053 (GRCm39) probably benign Het
Abca17 T C 17: 24,500,190 (GRCm39) probably null Het
Atxn7 T C 14: 14,100,237 (GRCm38) V641A probably damaging Het
C3 G A 17: 57,529,303 (GRCm39) Q30* probably null Het
Ccdc162 A G 10: 41,445,894 (GRCm39) I426T probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
Dmbt1 T A 7: 130,696,464 (GRCm39) Y892* probably null Het
Dnhd1 T A 7: 105,369,438 (GRCm39) Y4354N probably benign Het
Dync2li1 T A 17: 84,952,175 (GRCm39) I202K possibly damaging Het
Dyrk1a T A 16: 94,485,991 (GRCm39) V446E probably benign Het
Efcab3 C A 11: 104,629,121 (GRCm39) T933K probably benign Het
Fam186b T C 15: 99,178,058 (GRCm39) I423V probably benign Het
Gm5108 T C 5: 68,132,475 (GRCm39) probably benign Het
Htr3a A G 9: 48,817,643 (GRCm39) V110A probably benign Het
Itsn2 C A 12: 4,757,005 (GRCm39) S1365Y possibly damaging Het
Lrrc46 T C 11: 96,929,657 (GRCm39) I60V probably damaging Het
Mtrex A T 13: 113,019,702 (GRCm39) Y803N probably benign Het
Nlrp14 T C 7: 106,797,031 (GRCm39) V307A probably benign Het
Nt5c2 A G 19: 46,878,506 (GRCm39) probably null Het
Obox2 C T 7: 15,130,935 (GRCm39) P56S possibly damaging Het
Olfml2b A G 1: 170,477,319 (GRCm39) I151M possibly damaging Het
Oog3 T A 4: 143,885,884 (GRCm39) D238V probably benign Het
Pde11a T C 2: 75,889,405 (GRCm39) T690A probably benign Het
Ppa1 A G 10: 61,508,163 (GRCm39) probably benign Het
Ppfia2 A G 10: 106,655,351 (GRCm39) E306G probably damaging Het
Ppic G A 18: 53,544,119 (GRCm39) R89C probably damaging Het
Ptprk T G 10: 28,427,713 (GRCm39) I764S probably damaging Het
Ripk2 T C 4: 16,132,774 (GRCm39) probably benign Het
Rnf123 A G 9: 107,940,735 (GRCm39) M702T probably benign Het
Slco1b2 T C 6: 141,615,100 (GRCm39) I335T probably damaging Het
Ssbp1 T A 6: 40,453,743 (GRCm39) D96E probably benign Het
Tpp2 T A 1: 44,022,346 (GRCm39) S915T possibly damaging Het
Unc5c A T 3: 141,383,892 (GRCm39) Q90L probably damaging Het
Vmn2r57 A G 7: 41,049,619 (GRCm39) I710T possibly damaging Het
Wdr90 G A 17: 26,070,429 (GRCm39) P1104L probably damaging Het
Other mutations in Cwc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01955:Cwc27 APN 13 104,944,245 (GRCm39) missense probably damaging 1.00
IGL02240:Cwc27 APN 13 104,943,151 (GRCm39) missense probably damaging 0.97
IGL02398:Cwc27 APN 13 104,940,762 (GRCm39) missense possibly damaging 0.82
IGL02620:Cwc27 APN 13 104,938,714 (GRCm39) splice site probably benign
IGL03213:Cwc27 APN 13 104,932,911 (GRCm39) splice site probably benign
pam1 UTSW 13 104,797,865 (GRCm39) nonsense probably null
R0375:Cwc27 UTSW 13 104,944,331 (GRCm39) missense possibly damaging 0.94
R0483:Cwc27 UTSW 13 104,947,724 (GRCm39) critical splice donor site probably null
R0534:Cwc27 UTSW 13 104,768,124 (GRCm39) missense unknown
R0550:Cwc27 UTSW 13 104,941,457 (GRCm39) missense probably damaging 1.00
R0562:Cwc27 UTSW 13 104,797,865 (GRCm39) nonsense probably null
R0563:Cwc27 UTSW 13 104,797,865 (GRCm39) nonsense probably null
R0564:Cwc27 UTSW 13 104,797,865 (GRCm39) nonsense probably null
R0972:Cwc27 UTSW 13 104,797,865 (GRCm39) nonsense probably null
R1536:Cwc27 UTSW 13 104,933,814 (GRCm39) missense probably damaging 1.00
R1546:Cwc27 UTSW 13 104,938,693 (GRCm39) missense probably damaging 1.00
R1587:Cwc27 UTSW 13 104,929,145 (GRCm39) missense probably benign 0.00
R1934:Cwc27 UTSW 13 104,768,184 (GRCm39) missense probably benign 0.28
R2159:Cwc27 UTSW 13 104,940,837 (GRCm39) missense probably damaging 0.98
R2249:Cwc27 UTSW 13 104,768,130 (GRCm39) missense unknown
R2252:Cwc27 UTSW 13 104,768,237 (GRCm39) missense probably damaging 1.00
R2698:Cwc27 UTSW 13 104,943,259 (GRCm39) missense probably damaging 0.99
R3899:Cwc27 UTSW 13 104,929,023 (GRCm39) nonsense probably null
R5121:Cwc27 UTSW 13 104,940,861 (GRCm39) missense probably damaging 1.00
R6317:Cwc27 UTSW 13 104,940,769 (GRCm39) nonsense probably null
R6763:Cwc27 UTSW 13 104,947,809 (GRCm39) missense probably damaging 1.00
R7187:Cwc27 UTSW 13 104,797,900 (GRCm39) missense probably benign 0.01
R7958:Cwc27 UTSW 13 104,941,472 (GRCm39) missense probably benign 0.01
R8465:Cwc27 UTSW 13 104,940,776 (GRCm39) missense possibly damaging 0.49
R8465:Cwc27 UTSW 13 104,940,772 (GRCm39) missense probably benign
R8466:Cwc27 UTSW 13 104,940,776 (GRCm39) missense possibly damaging 0.49
R8466:Cwc27 UTSW 13 104,940,772 (GRCm39) missense probably benign
R8483:Cwc27 UTSW 13 104,940,776 (GRCm39) missense possibly damaging 0.49
R8483:Cwc27 UTSW 13 104,940,772 (GRCm39) missense probably benign
R8485:Cwc27 UTSW 13 104,940,776 (GRCm39) missense possibly damaging 0.49
R8485:Cwc27 UTSW 13 104,940,772 (GRCm39) missense probably benign
R9320:Cwc27 UTSW 13 104,933,799 (GRCm39) missense probably benign
R9710:Cwc27 UTSW 13 104,943,158 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATTTGAGCTTAAGGTAGTCAC -3'
(R):5'- GCTTCATTTGAGCATGTTCCTG -3'

Sequencing Primer
(F):5'- TTTGAGCTTAAGGTAGTCACATAAC -3'
(R):5'- GTCTGTTGTACAGTGCCATTC -3'
Posted On 2014-11-11