Incidental Mutation 'R5467:Cwc22'
ID 433270
Institutional Source Beutler Lab
Gene Symbol Cwc22
Ensembl Gene ENSMUSG00000027014
Gene Name CWC22 spliceosome-associated protein
Synonyms
MMRRC Submission 043028-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5467 (G1)
Quality Score 136
Status Not validated
Chromosome 2
Chromosomal Location 77711503-77776719 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) ATCTCTCTCTCTCTCTCT to ATCTCTCTCTCTCTCT at 77759803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065889] [ENSMUST00000111818] [ENSMUST00000111819] [ENSMUST00000111821] [ENSMUST00000111824] [ENSMUST00000127289] [ENSMUST00000128963]
AlphaFold Q8C5N3
Predicted Effect probably null
Transcript: ENSMUST00000065889
SMART Domains Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014

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 null
Transcript: ENSMUST00000111818
SMART Domains Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014

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 null
Transcript: ENSMUST00000111819
SMART Domains Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014

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 null
Transcript: ENSMUST00000111821
SMART Domains Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014

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 null
Transcript: ENSMUST00000111824
SMART Domains Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014

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 null
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: ENSMUST00000149012
Predicted Effect probably null
Transcript: ENSMUST00000128963
SMART Domains Protein: ENSMUSP00000115067
Gene: ENSMUSG00000027014

DomainStartEndE-ValueType
low complexity region 37 98 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127351
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,222,991 (GRCm39) M525T possibly damaging Het
Arpc5l T C 2: 38,903,751 (GRCm39) V80A possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bltp3b G T 10: 89,640,961 (GRCm39) G711W probably damaging Het
Celsr3 A T 9: 108,705,836 (GRCm39) D773V probably damaging Het
Clcn6 A T 4: 148,102,093 (GRCm39) H330Q possibly damaging Het
Dmbt1 C A 7: 130,642,723 (GRCm39) S180R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elovl7 T C 13: 108,416,156 (GRCm39) V182A probably benign Het
Eml3 G A 19: 8,914,946 (GRCm39) W601* probably null Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fras1 A T 5: 96,927,912 (GRCm39) Y3775F probably benign Het
Gns T C 10: 121,227,351 (GRCm39) W454R probably benign Het
Katnip T C 7: 125,442,527 (GRCm39) F812S possibly damaging Het
Kcnh2 A T 5: 24,531,765 (GRCm39) L40* probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrrc37 G T 11: 103,494,091 (GRCm39) C655* probably null Het
Mgl2 T A 11: 70,025,878 (GRCm39) I31N possibly damaging Het
Muc6 T C 7: 141,216,448 (GRCm39) T2677A possibly damaging Het
Ndst1 A G 18: 60,825,093 (GRCm39) S742P probably benign Het
Or10g6 G T 9: 39,933,733 (GRCm39) V15L probably benign Het
Or1o11 G T 17: 37,756,973 (GRCm39) C187F probably damaging Het
Or4d6 A C 19: 12,086,023 (GRCm39) S70A probably benign Het
Or5b112 A T 19: 13,319,521 (GRCm39) Y133F probably damaging Het
Or8g21 T C 9: 38,906,200 (GRCm39) Y177C probably benign Het
Pcdhb22 A G 18: 37,653,188 (GRCm39) D552G probably benign Het
Pikfyve T A 1: 65,291,654 (GRCm39) V1291E probably damaging Het
Ppp4r3a T C 12: 101,009,729 (GRCm39) E636G probably damaging Het
Prl5a1 A T 13: 28,333,994 (GRCm39) I166L possibly damaging Het
Rb1 T C 14: 73,449,060 (GRCm39) D690G possibly damaging Het
Sh3tc2 A G 18: 62,123,759 (GRCm39) H840R possibly damaging Het
Skida1 T C 2: 18,050,923 (GRCm39) probably benign Het
Slc31a2 A G 4: 62,210,924 (GRCm39) H19R probably damaging Het
Styxl2 C A 1: 165,939,599 (GRCm39) probably null Het
Tnks2 A T 19: 36,859,176 (GRCm39) R314W probably damaging Het
Trak1 A G 9: 121,275,864 (GRCm39) D189G probably damaging Het
Trav13n-4 T A 14: 53,601,303 (GRCm39) V24E probably damaging Het
Ylpm1 T C 12: 85,043,633 (GRCm39) Y124H unknown Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Cwc22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Cwc22 APN 2 77,747,408 (GRCm39) missense probably benign 0.00
IGL01739:Cwc22 APN 2 77,757,640 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGCTTCGCAGGAGGGATATAC -3'
(R):5'- GTAAAGAGTGTCACCCTCACGG -3'

Sequencing Primer
(F):5'- GGATATACGCTCCCCCAGTG -3'
(R):5'- TAAGCCTTAGCCCTGAGTCAG -3'
Posted On 2016-10-06