Incidental Mutation 'R2225:Cwc22'
ID 239653
Institutional Source Beutler Lab
Gene Symbol Cwc22
Ensembl Gene ENSMUSG00000027014
Gene Name CWC22 spliceosome-associated protein
Synonyms
MMRRC Submission 040226-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2225 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 77711503-77776719 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 77738495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065889] [ENSMUST00000111818] [ENSMUST00000111819] [ENSMUST00000111821] [ENSMUST00000111824]
AlphaFold Q8C5N3
Predicted Effect probably benign
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 benign
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 benign
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 benign
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 benign
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 noncoding transcript
Transcript: ENSMUST00000137494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139842
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A C 6: 88,813,349 (GRCm39) L439R probably damaging Het
Adcy10 A G 1: 165,345,829 (GRCm39) T293A probably damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Aggf1 A G 13: 95,507,354 (GRCm39) S144P probably damaging Het
Akap9 A T 5: 4,127,271 (GRCm39) R3706S probably damaging Het
Btd A G 14: 31,389,017 (GRCm39) D246G probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Cep152 T C 2: 125,423,704 (GRCm39) E899G probably damaging Het
Cpsf6 A T 10: 117,198,941 (GRCm39) probably benign Het
Crybg3 A G 16: 59,375,041 (GRCm39) I2071T probably damaging Het
Ddah2 T A 17: 35,279,187 (GRCm39) I16N probably damaging Het
Dld T G 12: 31,391,448 (GRCm39) M123L probably benign Het
Eif5b A T 1: 38,058,304 (GRCm39) K202I unknown Het
Gm6430 T C 1: 96,953,441 (GRCm39) noncoding transcript Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hoxa10 T C 6: 52,209,616 (GRCm39) E52G probably damaging Het
Hspa4 C T 11: 53,177,760 (GRCm39) V117M probably benign Het
Htra4 T C 8: 25,515,736 (GRCm39) D434G probably benign Het
Itgb3 A G 11: 104,556,336 (GRCm39) M726V probably benign Het
Itih1 A G 14: 30,651,534 (GRCm39) V886A possibly damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Limk1 G T 5: 134,690,410 (GRCm39) probably null Het
Lonrf1 T C 8: 36,703,252 (GRCm39) D308G probably damaging Het
Muc4 A T 16: 32,576,265 (GRCm39) probably benign Het
Muc4 G A 16: 32,587,316 (GRCm39) C2719Y possibly damaging Het
Mvb12b G A 2: 33,730,211 (GRCm39) T60I possibly damaging Het
Myh2 C T 11: 67,084,555 (GRCm39) T1698M probably benign Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Or10d5 T C 9: 39,861,833 (GRCm39) K78R possibly damaging Het
Or2l5 T C 16: 19,333,996 (GRCm39) H130R probably benign Het
Or8g33 T C 9: 39,337,915 (GRCm39) I151V probably benign Het
Plekhg2 G A 7: 28,059,760 (GRCm39) P1190S probably benign Het
Reck A G 4: 43,922,837 (GRCm39) T371A probably benign Het
Rnf185 T C 11: 3,382,445 (GRCm39) D44G probably damaging Het
Rpgrip1l T C 8: 91,948,095 (GRCm39) E1196G probably benign Het
Rundc1 A G 11: 101,322,170 (GRCm39) probably benign Het
Sf3b3 T C 8: 111,541,205 (GRCm39) Y970C probably damaging Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Shprh T C 10: 11,037,979 (GRCm39) probably benign Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Srsf6 G A 2: 162,773,619 (GRCm39) S10N probably damaging Het
Tbxa2r A G 10: 81,168,983 (GRCm39) Y224C probably benign Het
Tlr5 A G 1: 182,799,941 (GRCm39) probably benign Het
Tmem270 A G 5: 134,935,492 (GRCm39) L21P probably damaging Het
Tmtc2 T C 10: 105,206,218 (GRCm39) E359G probably benign Het
Tnn A T 1: 159,975,035 (GRCm39) C131S probably damaging Het
Tnnt2 A G 1: 135,771,529 (GRCm39) probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tph1 A G 7: 46,314,598 (GRCm39) probably null Het
Wiz C T 17: 32,575,899 (GRCm39) V836M probably damaging Het
Zfp451 T A 1: 33,809,988 (GRCm39) probably benign Het
Zfp738 A G 13: 67,818,431 (GRCm39) F520S 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
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
Predicted Primers PCR Primer
(F):5'- AGAGAACAATGTGCTCCCAGG -3'
(R):5'- AGGTGATATCAGCCAGTCTAAAGG -3'

Sequencing Primer
(F):5'- TGTGCTCCCAGGGTAAAAAC -3'
(R):5'- CCAGTCTAAAGGCTTTTTAAAAGTG -3'
Posted On 2014-10-15