Incidental Mutation 'R6763:Cwc27'
ID 531788
Institutional Source Beutler Lab
Gene Symbol Cwc27
Ensembl Gene ENSMUSG00000021715
Gene Name CWC27 spliceosome-associated protein
Synonyms 3110009E13Rik, NY-CO-10, Sdccag10
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6763 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 104631140-104817142 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104811301 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 19 (T19A)
Ref Sequence ENSEMBL: ENSMUSP00000119076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022228] [ENSMUST00000154165]
AlphaFold Q3TKY6
Predicted Effect probably damaging
Transcript: ENSMUST00000022228
AA Change: T19A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715
AA Change: T19A

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 probably damaging
Transcript: ENSMUST00000154165
AA Change: T19A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119076
Gene: ENSMUSG00000021715
AA Change: T19A

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 82 1.3e-24 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.2%
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C A 15: 102,340,022 R286L probably null Het
Actrt2 A G 4: 154,667,379 V100A probably damaging Het
Adra1b A G 11: 43,776,006 L468P possibly damaging Het
Ankhd1 A G 18: 36,642,969 E1457G probably benign Het
Aspm A T 1: 139,470,517 M974L possibly damaging Het
Atp8a2 T A 14: 60,008,408 I612F probably benign Het
Cabin1 A G 10: 75,746,730 L284P probably damaging Het
Cand2 T A 6: 115,799,969 M1106K probably benign Het
Ccbe1 A T 18: 66,061,388 F376I possibly damaging Het
Ceacam14 A G 7: 17,815,343 T220A probably benign Het
Celsr3 A G 9: 108,827,350 D344G probably damaging Het
Chaf1b A G 16: 93,891,505 K163E probably damaging Het
Clec2d C A 6: 129,184,144 T68K probably benign Het
Dnah7c A T 1: 46,628,890 Y1519F possibly damaging Het
E130308A19Rik A T 4: 59,752,288 K467M probably damaging Het
Fam129b T C 2: 32,911,448 probably null Het
Garnl3 T C 2: 33,054,196 Y117C probably damaging Het
Gas2l3 T C 10: 89,413,369 Y629C probably benign Het
Lama1 A G 17: 67,746,873 N470D unknown Het
Lmtk2 T A 5: 144,173,797 I445N probably damaging Het
Lrba A G 3: 86,354,263 D1508G probably damaging Het
Muc5b A G 7: 141,862,284 H2989R probably benign Het
Nln A T 13: 104,035,655 W638R probably damaging Het
Nup133 T C 8: 123,944,278 I127V possibly damaging Het
Nup155 C T 15: 8,135,895 R672* probably null Het
Prkcb A G 7: 122,594,664 Y532C probably damaging Het
Ptpro A G 6: 137,418,281 probably null Het
Rab11fip5 A G 6: 85,342,170 L579S probably benign Het
Rtca A G 3: 116,507,749 probably null Het
Sdccag8 A G 1: 176,854,627 probably null Het
Svil G T 18: 5,056,437 D524Y probably damaging Het
Unc80 A G 1: 66,521,477 N788S probably benign Het
Wdfy4 G T 14: 33,042,512 R2140S probably damaging Het
Zfp518a A G 19: 40,913,748 K707R probably damaging Het
Other mutations in Cwc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01955:Cwc27 APN 13 104807737 missense probably damaging 1.00
IGL02240:Cwc27 APN 13 104806643 missense probably damaging 0.97
IGL02398:Cwc27 APN 13 104804254 missense possibly damaging 0.82
IGL02620:Cwc27 APN 13 104802206 splice site probably benign
IGL03213:Cwc27 APN 13 104796403 splice site probably benign
pam1 UTSW 13 104661357 nonsense probably null
R0375:Cwc27 UTSW 13 104807823 missense possibly damaging 0.94
R0483:Cwc27 UTSW 13 104811216 critical splice donor site probably null
R0534:Cwc27 UTSW 13 104631616 missense unknown
R0550:Cwc27 UTSW 13 104804949 missense probably damaging 1.00
R0562:Cwc27 UTSW 13 104661357 nonsense probably null
R0563:Cwc27 UTSW 13 104661357 nonsense probably null
R0564:Cwc27 UTSW 13 104661357 nonsense probably null
R0972:Cwc27 UTSW 13 104661357 nonsense probably null
R1536:Cwc27 UTSW 13 104797306 missense probably damaging 1.00
R1546:Cwc27 UTSW 13 104802185 missense probably damaging 1.00
R1587:Cwc27 UTSW 13 104792637 missense probably benign 0.00
R1934:Cwc27 UTSW 13 104631676 missense probably benign 0.28
R2159:Cwc27 UTSW 13 104804329 missense probably damaging 0.98
R2249:Cwc27 UTSW 13 104631622 missense unknown
R2252:Cwc27 UTSW 13 104631729 missense probably damaging 1.00
R2394:Cwc27 UTSW 13 104796434 missense probably benign 0.01
R2698:Cwc27 UTSW 13 104806751 missense probably damaging 0.99
R3899:Cwc27 UTSW 13 104792515 nonsense probably null
R5121:Cwc27 UTSW 13 104804353 missense probably damaging 1.00
R6317:Cwc27 UTSW 13 104804261 nonsense probably null
R7187:Cwc27 UTSW 13 104661392 missense probably benign 0.01
R7958:Cwc27 UTSW 13 104804964 missense probably benign 0.01
R8465:Cwc27 UTSW 13 104804264 missense probably benign
R8465:Cwc27 UTSW 13 104804268 missense possibly damaging 0.49
R8466:Cwc27 UTSW 13 104804264 missense probably benign
R8466:Cwc27 UTSW 13 104804268 missense possibly damaging 0.49
R8483:Cwc27 UTSW 13 104804264 missense probably benign
R8483:Cwc27 UTSW 13 104804268 missense possibly damaging 0.49
R8485:Cwc27 UTSW 13 104804264 missense probably benign
R8485:Cwc27 UTSW 13 104804268 missense possibly damaging 0.49
R9320:Cwc27 UTSW 13 104797291 missense probably benign
R9710:Cwc27 UTSW 13 104806650 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGAAAGCTCATCCCTGCAG -3'
(R):5'- AATCGCCTGATGATGACTGGG -3'

Sequencing Primer
(F):5'- TGCCTAGGATGCTCTGAAAC -3'
(R):5'- GCTACTTGTTAGTGTTGCA -3'
Posted On 2018-08-29