Incidental Mutation 'IGL02398:Cwc27'
ID291745
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 #IGL02398
Quality Score
Status
Chromosome13
Chromosomal Location104631140-104817142 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 104804254 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 199 (T199I)
Ref Sequence ENSEMBL: ENSMUSP00000022228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022228] [ENSMUST00000154165]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022228
AA Change: T199I

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715
AA Change: T199I

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 benign
Transcript: ENSMUST00000154165
SMART Domains Protein: ENSMUSP00000119076
Gene: ENSMUSG00000021715

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,402,824 C160* probably null Het
Alkbh8 C T 9: 3,345,870 P197S possibly damaging Het
Ankef1 A C 2: 136,555,782 N761T probably damaging Het
Ankrd7 A G 6: 18,866,697 Y72C probably damaging Het
Cfap36 T G 11: 29,222,833 M231L probably benign Het
Cog7 A G 7: 121,964,209 C227R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspg4 A T 9: 56,886,686 E568D probably benign Het
Cyp26a1 A G 19: 37,700,019 I330V probably benign Het
Dcaf7 T C 11: 106,053,753 V254A probably benign Het
Dhrs7 G A 12: 72,664,692 R24C probably damaging Het
Ehmt2 T A 17: 34,908,479 C838S probably damaging Het
Fn1 A T 1: 71,618,670 probably null Het
Gjb3 T A 4: 127,326,062 S226C probably benign Het
Gm14496 A G 2: 181,996,170 I346V probably benign Het
Gm5926 A G X: 32,651,386 D224G probably damaging Het
Gm8050 T C 14: 6,717,330 E172G probably damaging Het
Higd1a G A 9: 121,852,524 R22W probably damaging Het
Hmcn1 A G 1: 150,802,897 L491S possibly damaging Het
Igsf9b T C 9: 27,333,130 S794P possibly damaging Het
Irgm2 A T 11: 58,219,929 I161F probably damaging Het
Lrp8 G T 4: 107,847,494 V304F probably damaging Het
Lrp8 C A 4: 107,869,048 S850R probably damaging Het
Lrrc9 A T 12: 72,466,903 M513L probably benign Het
Myo18b A T 5: 112,830,312 V1248E possibly damaging Het
Myo1b A T 1: 51,757,891 N945K probably damaging Het
Nipbl A G 15: 8,327,090 L1604P probably damaging Het
Oas1f A T 5: 120,851,505 Y169F probably benign Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr1054 A T 2: 86,332,524 Y277* probably null Het
Olfr444 A T 6: 42,956,112 I205F probably benign Het
Olfr584 G A 7: 103,086,106 C191Y probably damaging Het
Parp8 A G 13: 116,910,863 probably null Het
Pde4dip T C 3: 97,766,781 Y273C probably benign Het
Pgbd5 C T 8: 124,384,518 A54T probably damaging Het
Pglyrp4 G A 3: 90,739,117 probably benign Het
Piezo1 A T 8: 122,486,563 S1819R probably benign Het
Polr1a T C 6: 71,936,556 probably benign Het
Polr1b A G 2: 129,102,966 I61V probably benign Het
Prlhr G T 19: 60,467,315 A271E probably damaging Het
Rad23b C T 4: 55,350,360 probably benign Het
Rad51ap1 A T 6: 126,928,151 S132R probably damaging Het
Ros1 T A 10: 52,144,884 probably benign Het
Ryr3 T C 2: 112,847,422 D1327G probably benign Het
Slit1 A C 19: 41,602,237 V1332G probably damaging Het
Tmem178b A G 6: 40,207,527 M120V probably damaging Het
Trim25 T C 11: 88,999,804 C106R probably damaging Het
Trim35 A G 14: 66,309,248 Y488C probably damaging Het
Tsc2 A T 17: 24,621,729 H326Q probably damaging Het
Yap1 A T 9: 7,950,535 I315K probably benign Het
Zfp654 A G 16: 64,786,018 V607A probably benign 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
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 On2015-04-16