Incidental Mutation 'IGL01739:Cwc22'
ID 105790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cwc22
Ensembl Gene ENSMUSG00000027014
Gene Name CWC22 spliceosome-associated protein
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01739
Quality Score
Status
Chromosome 2
Chromosomal Location 77711503-77776719 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77757640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 163 (S163P)
Ref Sequence ENSEMBL: ENSMUSP00000107455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065889] [ENSMUST00000111818] [ENSMUST00000111819] [ENSMUST00000111821] [ENSMUST00000111824] [ENSMUST00000127289] [ENSMUST00000128963]
AlphaFold Q8C5N3
Predicted Effect probably damaging
Transcript: ENSMUST00000065889
AA Change: S163P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014
AA Change: S163P

DomainStartEndE-ValueType
low complexity region 37 98 N/A INTRINSIC
MIF4G 161 344 1e-33 SMART
low complexity region 421 438 N/A INTRINSIC
MA3 454 560 4.45e-26 SMART
low complexity region 669 712 N/A INTRINSIC
low complexity region 746 777 N/A INTRINSIC
low complexity region 847 862 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111818
AA Change: S163P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014
AA Change: S163P

DomainStartEndE-ValueType
low complexity region 37 98 N/A INTRINSIC
MIF4G 161 344 1e-33 SMART
low complexity region 421 438 N/A INTRINSIC
MA3 454 560 4.45e-26 SMART
low complexity region 668 713 N/A INTRINSIC
low complexity region 740 771 N/A INTRINSIC
low complexity region 841 856 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111819
AA Change: S164P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014
AA Change: S164P

DomainStartEndE-ValueType
low complexity region 38 99 N/A INTRINSIC
MIF4G 162 345 1e-33 SMART
low complexity region 422 439 N/A INTRINSIC
MA3 455 561 4.45e-26 SMART
low complexity region 669 714 N/A INTRINSIC
low complexity region 741 772 N/A INTRINSIC
low complexity region 842 857 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111821
AA Change: S163P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014
AA Change: S163P

DomainStartEndE-ValueType
low complexity region 37 98 N/A INTRINSIC
MIF4G 161 344 1e-33 SMART
low complexity region 421 438 N/A INTRINSIC
MA3 454 560 4.45e-26 SMART
low complexity region 669 712 N/A INTRINSIC
low complexity region 746 777 N/A INTRINSIC
low complexity region 847 862 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111824
AA Change: S163P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014
AA Change: S163P

DomainStartEndE-ValueType
low complexity region 37 98 N/A INTRINSIC
MIF4G 161 344 1e-33 SMART
low complexity region 421 438 N/A INTRINSIC
MA3 454 560 4.45e-26 SMART
low complexity region 669 715 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127289
SMART Domains Protein: ENSMUSP00000122338
Gene: ENSMUSG00000027014

DomainStartEndE-ValueType
low complexity region 38 99 N/A INTRINSIC
PDB:4C9B|B 115 139 2e-9 PDB
Blast:MIF4G 118 139 1e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137494
Predicted Effect probably benign
Transcript: ENSMUST00000128963
SMART Domains Protein: ENSMUSP00000115067
Gene: ENSMUSG00000027014

DomainStartEndE-ValueType
low complexity region 37 98 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 43,906,210 (GRCm39) Y88* probably null Het
Aftph T C 11: 20,676,994 (GRCm39) D205G probably damaging Het
Arhgap31 T C 16: 38,423,793 (GRCm39) I758V probably benign Het
Atg9b A G 5: 24,591,513 (GRCm39) probably null Het
Auts2 T C 5: 131,469,056 (GRCm39) T754A probably benign Het
Birc6 A G 17: 74,966,216 (GRCm39) M4048V probably benign Het
Cacna1s T C 1: 136,024,870 (GRCm39) probably null Het
Cmpk1 C T 4: 114,822,121 (GRCm39) A143T probably benign Het
Cstf2t C A 19: 31,060,536 (GRCm39) P24Q probably damaging Het
Dnaaf11 T A 15: 66,321,326 (GRCm39) M272L probably benign Het
Faf1 T A 4: 109,534,278 (GRCm39) probably benign Het
Focad T A 4: 88,289,043 (GRCm39) I1279N unknown Het
Gp5 T C 16: 30,127,459 (GRCm39) D405G possibly damaging Het
Guf1 C A 5: 69,718,501 (GRCm39) N213K probably damaging Het
Hacd4 T C 4: 88,341,285 (GRCm39) T145A probably damaging Het
Itga11 T C 9: 62,681,399 (GRCm39) M1005T probably benign Het
Mast4 T A 13: 102,910,781 (GRCm39) T621S probably damaging Het
Mme T C 3: 63,247,534 (GRCm39) M273T possibly damaging Het
Mos A G 4: 3,871,816 (GRCm39) probably benign Het
Msln C T 17: 25,969,004 (GRCm39) probably null Het
Mtg1 A T 7: 139,730,149 (GRCm39) Q315L probably benign Het
Myh1 A G 11: 67,105,354 (GRCm39) E1048G probably damaging Het
Ndufa9 C T 6: 126,821,777 (GRCm39) G66D probably damaging Het
Nr1i2 T C 16: 38,086,333 (GRCm39) K44R probably benign Het
Nup155 T A 15: 8,165,272 (GRCm39) M636K probably benign Het
Or12d12 A T 17: 37,610,673 (GRCm39) F213L probably benign Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Plekha6 T C 1: 133,187,869 (GRCm39) V130A probably benign Het
Prag1 A G 8: 36,569,834 (GRCm39) N139S probably benign Het
Rbpj-ps3 T C 6: 46,507,694 (GRCm39) T19A probably benign Het
Scai A G 2: 38,984,803 (GRCm39) probably benign Het
Slc12a7 A G 13: 73,947,733 (GRCm39) T617A probably benign Het
Slc15a2 T C 16: 36,576,592 (GRCm39) M481V probably benign Het
Snx5 A G 2: 144,112,325 (GRCm39) L8P probably benign Het
Spg11 C T 2: 121,945,152 (GRCm39) A123T probably damaging Het
Supt6 T A 11: 78,113,013 (GRCm39) I977F probably damaging Het
Tjp3 T C 10: 81,114,490 (GRCm39) D442G probably benign Het
Ttc21b A T 2: 66,068,200 (GRCm39) N275K probably benign Het
Vmn2r50 A G 7: 9,771,364 (GRCm39) F779S probably damaging Het
Xirp2 A T 2: 67,345,482 (GRCm39) R2574S probably benign Het
Zbp1 T C 2: 173,054,038 (GRCm39) E161G possibly damaging Het
Other mutations in Cwc22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Cwc22 APN 2 77,747,408 (GRCm39) missense probably benign 0.00
IGL01754:Cwc22 APN 2 77,754,883 (GRCm39) missense probably damaging 0.99
IGL02011:Cwc22 APN 2 77,751,366 (GRCm39) missense possibly damaging 0.88
R0115:Cwc22 UTSW 2 77,738,455 (GRCm39) missense probably damaging 1.00
R0271:Cwc22 UTSW 2 77,751,202 (GRCm39) missense probably benign 0.19
R0481:Cwc22 UTSW 2 77,738,455 (GRCm39) missense probably damaging 1.00
R1086:Cwc22 UTSW 2 77,754,824 (GRCm39) unclassified probably benign
R1165:Cwc22 UTSW 2 77,734,242 (GRCm39) missense probably damaging 0.98
R1394:Cwc22 UTSW 2 77,759,823 (GRCm39) missense possibly damaging 0.91
R1445:Cwc22 UTSW 2 77,747,521 (GRCm39) splice site probably benign
R1448:Cwc22 UTSW 2 77,741,899 (GRCm39) missense probably damaging 1.00
R1640:Cwc22 UTSW 2 77,745,874 (GRCm39) missense possibly damaging 0.82
R1800:Cwc22 UTSW 2 77,759,797 (GRCm39) missense possibly damaging 0.70
R1822:Cwc22 UTSW 2 77,755,003 (GRCm39) unclassified probably benign
R1916:Cwc22 UTSW 2 77,735,819 (GRCm39) missense probably benign 0.28
R2225:Cwc22 UTSW 2 77,738,495 (GRCm39) splice site probably benign
R2360:Cwc22 UTSW 2 77,757,591 (GRCm39) missense probably damaging 1.00
R3113:Cwc22 UTSW 2 77,754,823 (GRCm39) unclassified probably benign
R4962:Cwc22 UTSW 2 77,726,653 (GRCm39) missense probably benign 0.00
R5363:Cwc22 UTSW 2 77,759,803 (GRCm39) frame shift probably null
R5394:Cwc22 UTSW 2 77,759,683 (GRCm39) missense possibly damaging 0.67
R5467:Cwc22 UTSW 2 77,759,803 (GRCm39) frame shift probably null
R5531:Cwc22 UTSW 2 77,754,913 (GRCm39) missense probably damaging 0.99
R5677:Cwc22 UTSW 2 77,759,787 (GRCm39) missense probably damaging 0.97
R6148:Cwc22 UTSW 2 77,759,803 (GRCm39) frame shift probably null
R6263:Cwc22 UTSW 2 77,726,515 (GRCm39) missense possibly damaging 0.93
R6860:Cwc22 UTSW 2 77,759,792 (GRCm39) missense possibly damaging 0.53
R7133:Cwc22 UTSW 2 77,759,822 (GRCm39) missense possibly damaging 0.91
R7571:Cwc22 UTSW 2 77,747,411 (GRCm39) missense probably benign
R8168:Cwc22 UTSW 2 77,757,615 (GRCm39) missense probably damaging 1.00
R8709:Cwc22 UTSW 2 77,726,694 (GRCm39) missense probably benign 0.22
R8758:Cwc22 UTSW 2 77,747,441 (GRCm39) missense possibly damaging 0.81
R8954:Cwc22 UTSW 2 77,754,937 (GRCm39) missense probably damaging 0.97
R9129:Cwc22 UTSW 2 77,726,659 (GRCm39) nonsense probably null
R9266:Cwc22 UTSW 2 77,754,952 (GRCm39) missense probably benign 0.03
R9273:Cwc22 UTSW 2 77,759,803 (GRCm39) missense possibly damaging 0.70
Posted On 2014-01-21