Incidental Mutation 'R0481:Cwc22'
ID 43335
Institutional Source Beutler Lab
Gene Symbol Cwc22
Ensembl Gene ENSMUSG00000027014
Gene Name CWC22 spliceosome-associated protein
Synonyms
MMRRC Submission 038681-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0481 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 77711503-77776719 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77738455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 497 (A497V)
Ref Sequence ENSEMBL: ENSMUSP00000107455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065889] [ENSMUST00000111818] [ENSMUST00000111819] [ENSMUST00000111821] [ENSMUST00000111824]
AlphaFold Q8C5N3
Predicted Effect probably damaging
Transcript: ENSMUST00000065889
AA Change: A497V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014
AA Change: A497V

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: A497V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014
AA Change: A497V

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: A498V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014
AA Change: A498V

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: A497V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014
AA Change: A497V

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: A497V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014
AA Change: A497V

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
Meta Mutation Damage Score 0.4314 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 95% (89/94)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,190,666 (GRCm39) N39Y probably benign Het
Adamts10 C T 17: 33,768,347 (GRCm39) Q840* probably null Het
Aff2 C T X: 68,878,248 (GRCm39) T678I probably damaging Het
Ahctf1 A G 1: 179,587,836 (GRCm39) V1418A probably benign Het
Ankrd11 G A 8: 123,626,775 (GRCm39) R136C probably damaging Het
Arf5 A G 6: 28,426,075 (GRCm39) Y154C probably damaging Het
AW551984 A G 9: 39,511,912 (GRCm39) V33A probably null Het
B4galt5 A G 2: 167,151,154 (GRCm39) L118P probably damaging Het
Bcl9l A G 9: 44,417,979 (GRCm39) I606V probably benign Het
Bdp1 A G 13: 100,177,962 (GRCm39) I1969T probably benign Het
Bicd1 A T 6: 149,413,389 (GRCm39) D260V possibly damaging Het
Cap1 A T 4: 122,756,868 (GRCm39) H272Q possibly damaging Het
Ccnk A G 12: 108,165,568 (GRCm39) probably benign Het
Cd209f A T 8: 4,155,558 (GRCm39) probably null Het
Cdk13 C A 13: 17,894,079 (GRCm39) A1123S probably damaging Het
Cdx1 C T 18: 61,153,564 (GRCm39) R158H probably damaging Het
Chd8 A G 14: 52,474,663 (GRCm39) S123P probably benign Het
Cwh43 T C 5: 73,575,370 (GRCm39) S296P probably damaging Het
Dhx38 A T 8: 110,282,848 (GRCm39) probably benign Het
Dnah5 T A 15: 28,383,745 (GRCm39) M2989K probably benign Het
Dpy19l4 A C 4: 11,272,993 (GRCm39) probably benign Het
F11r A T 1: 171,288,847 (GRCm39) H155L probably benign Het
Fcgbpl1 A T 7: 27,853,174 (GRCm39) D1487V probably damaging Het
Fitm2 A G 2: 163,311,634 (GRCm39) V193A probably benign Het
Foxk1 T A 5: 142,434,578 (GRCm39) S281T probably benign Het
Furin A G 7: 80,043,297 (GRCm39) C305R probably damaging Het
Fut8 T A 12: 77,495,334 (GRCm39) V308D probably damaging Het
Gjb3 T A 4: 127,220,125 (GRCm39) I136F probably benign Het
Glmn A T 5: 107,708,800 (GRCm39) S385T probably benign Het
Glp1r T A 17: 31,150,191 (GRCm39) M371K probably benign Het
Gpr179 T C 11: 97,240,544 (GRCm39) H293R probably damaging Het
H2-M11 A T 17: 36,859,846 (GRCm39) R280* probably null Het
Hadhb T A 5: 30,373,543 (GRCm39) H78Q probably damaging Het
Hectd4 A G 5: 121,433,569 (GRCm39) probably benign Het
Hexa A G 9: 59,462,693 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Hyal6 G A 6: 24,743,417 (GRCm39) C371Y probably damaging Het
Il1rap T C 16: 26,511,585 (GRCm39) Y210H probably damaging Het
Ino80 A T 2: 119,261,497 (GRCm39) H722Q probably damaging Het
Kcnt1 A G 2: 25,782,508 (GRCm39) N200S probably damaging Het
Kif27 T A 13: 58,459,078 (GRCm39) probably benign Het
Lyst T C 13: 13,852,537 (GRCm39) V2179A probably benign Het
Macf1 C A 4: 123,377,815 (GRCm39) probably null Het
Mamdc4 A G 2: 25,461,228 (GRCm39) M1T probably null Het
Mansc4 A G 6: 146,976,725 (GRCm39) I297T possibly damaging Het
Mdn1 G A 4: 32,767,182 (GRCm39) probably benign Het
Mib2 A G 4: 155,740,519 (GRCm39) probably benign Het
Mon2 A G 10: 122,849,301 (GRCm39) V1333A possibly damaging Het
Ndst2 T C 14: 20,774,536 (GRCm39) D840G possibly damaging Het
Nell2 A T 15: 95,330,563 (GRCm39) probably null Het
Or4c102 A T 2: 88,422,999 (GRCm39) I284F probably damaging Het
Or4k51 T A 2: 111,584,930 (GRCm39) M112K probably damaging Het
Or5g29 C A 2: 85,421,448 (GRCm39) A188E possibly damaging Het
Pde5a C T 3: 122,611,726 (GRCm39) probably benign Het
Phip A G 9: 82,758,769 (GRCm39) probably benign Het
Polr2b A G 5: 77,479,929 (GRCm39) I561V possibly damaging Het
Ppp4r3c2 T C X: 88,796,299 (GRCm39) S44P probably damaging Het
Prkg2 A T 5: 99,142,514 (GRCm39) probably null Het
Prl8a6 T C 13: 27,617,084 (GRCm39) D201G probably benign Het
Ptk6 G A 2: 180,844,320 (GRCm39) probably benign Het
Ptprn2 T C 12: 117,175,466 (GRCm39) probably benign Het
Rdh1 G T 10: 127,598,993 (GRCm39) R158L probably damaging Het
Rhbdl3 T C 11: 80,214,175 (GRCm39) probably benign Het
Rims4 A T 2: 163,706,040 (GRCm39) V198E probably damaging Het
Ripk1 T C 13: 34,193,733 (GRCm39) S32P probably damaging Het
Rnf13 T A 3: 57,686,872 (GRCm39) N88K probably damaging Het
Rnf13 C A 3: 57,714,474 (GRCm39) L178I probably damaging Het
Slc17a5 G T 9: 78,445,584 (GRCm39) probably null Het
Sorcs1 A G 19: 50,624,891 (GRCm39) probably benign Het
Spata31e3 T A 13: 50,401,000 (GRCm39) Q442L probably benign Het
Srpk1 G A 17: 28,809,218 (GRCm39) probably benign Het
Stk10 A G 11: 32,564,708 (GRCm39) K840E probably damaging Het
Suco A G 1: 161,689,882 (GRCm39) probably benign Het
T2 G A 17: 8,636,007 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,226,079 (GRCm39) S255P probably damaging Het
Tenm1 T C X: 41,625,058 (GRCm39) Y2254C probably damaging Het
Tex9 T A 9: 72,385,678 (GRCm39) K11* probably null Het
Tlr4 A G 4: 66,746,153 (GRCm39) I29V probably benign Het
Tmem255a A T X: 37,288,523 (GRCm39) V278D probably damaging Het
Trpc3 T C 3: 36,678,566 (GRCm39) I840V probably benign Het
Trpm3 G A 19: 22,878,435 (GRCm39) R622Q possibly damaging Het
Vmn1r214 T A 13: 23,219,464 (GRCm39) Y319* probably null Het
Vmn1r53 A T 6: 90,200,700 (GRCm39) V208E probably damaging Het
Vmn2r89 T C 14: 51,693,577 (GRCm39) F309S probably damaging Het
Xirp2 T A 2: 67,340,253 (GRCm39) F831L possibly damaging Het
Yes1 G T 5: 32,797,749 (GRCm39) E23* probably null Het
Zfp292 A T 4: 34,810,059 (GRCm39) M995K probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACTGAAAGAGAGAACAATGTGCTCCC -3'
(R):5'- TGATTTGACCTGGTTCGTGCCC -3'

Sequencing Primer
(F):5'- TGTGCTCCCAGGGTAAAAAC -3'
(R):5'- CTGGTTCGTGCCCTAAATTG -3'
Posted On 2013-05-23