Incidental Mutation 'IGL01955:Cwc27'
ID181428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cwc27
Ensembl Gene ENSMUSG00000021715
Gene NameCWC27 spliceosome-associated protein
Synonyms3110009E13Rik, NY-CO-10, Sdccag10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01955
Quality Score
Status
Chromosome13
Chromosomal Location104631140-104817142 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104807737 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 79 (Y79H)
Ref Sequence ENSEMBL: ENSMUSP00000022228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022228] [ENSMUST00000154165]
Predicted Effect probably damaging
Transcript: ENSMUST00000022228
AA Change: Y79H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715
AA Change: Y79H

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: ENSMUST00000145661
Predicted Effect probably damaging
Transcript: ENSMUST00000154165
AA Change: Y79H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119076
Gene: ENSMUSG00000021715
AA Change: Y79H

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 82 1.3e-24 PFAM
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,573,995 noncoding transcript Het
Abcc1 T A 16: 14,410,795 I302N probably damaging Het
Abhd16a A G 17: 35,101,340 S394G probably damaging Het
Adgrv1 T C 13: 81,182,783 Y71C probably damaging Het
Apol8 A G 15: 77,749,699 C226R probably benign Het
Armc4 C T 18: 7,127,291 R974Q possibly damaging Het
Bbs7 A G 3: 36,610,322 S45P probably benign Het
Cacna1b T C 2: 24,639,137 Y1575C probably damaging Het
Cckbr T A 7: 105,434,962 V301E probably damaging Het
Dchs1 T C 7: 105,757,591 T2236A probably benign Het
Ddx50 T C 10: 62,647,183 R36G probably benign Het
Extl3 T A 14: 65,075,966 Y589F probably benign Het
Gab2 T C 7: 97,304,223 V601A probably damaging Het
Hsd3b1 T A 3: 98,853,147 N176I probably benign Het
L3mbtl3 A T 10: 26,318,438 S420R unknown Het
Olfr1000 A G 2: 85,608,707 F68L probably benign Het
Olfr319 T C 11: 58,702,129 S143P probably damaging Het
Olfr589 T A 7: 103,154,854 K298* probably null Het
Polr2a T C 11: 69,741,848 D974G probably damaging Het
Ptges3l T C 11: 101,423,818 K13E possibly damaging Het
Ptprk A G 10: 28,595,865 probably benign Het
Rassf3 T C 10: 121,417,122 Y60C probably damaging Het
Rnf157 T C 11: 116,359,896 T160A probably damaging Het
Secisbp2l A G 2: 125,743,812 probably null Het
Setd2 A G 9: 110,549,318 T734A probably benign Het
Skint5 A G 4: 113,623,736 probably null Het
Slc38a9 A G 13: 112,695,418 probably benign Het
Snx17 T G 5: 31,197,082 probably benign Het
Tas2r113 A T 6: 132,893,854 M282L probably benign Het
Tbc1d31 A G 15: 57,942,370 N404D probably benign Het
Tmem63c A T 12: 87,077,208 I487F probably benign Het
Tpm3 A G 3: 90,088,435 M164V probably benign Het
Trafd1 G T 5: 121,375,154 N340K probably benign Het
Trpv4 T A 5: 114,622,682 K863* probably null Het
Ttn A T 2: 76,797,352 M13003K possibly damaging Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Unc5b T C 10: 60,778,255 T272A probably benign Het
Vmn1r82 A C 7: 12,305,723 probably null Het
Zc3h7b A G 15: 81,792,004 N704D probably benign Het
Other mutations in Cwc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6763:Cwc27 UTSW 13 104811301 missense probably damaging 1.00
R7187:Cwc27 UTSW 13 104661392 missense probably benign 0.01
Posted On2014-05-07