Incidental Mutation 'R1165:Cwc22'
ID100902
Institutional Source Beutler Lab
Gene Symbol Cwc22
Ensembl Gene ENSMUSG00000027014
Gene NameCWC22 spliceosome-associated protein
Synonyms
MMRRC Submission 039238-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1165 (G1)
Quality Score165
Status Validated
Chromosome2
Chromosomal Location77881159-77946375 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77903898 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 686 (S686T)
Ref Sequence ENSEMBL: ENSMUSP00000107450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065889] [ENSMUST00000111818] [ENSMUST00000111819] [ENSMUST00000111821] [ENSMUST00000111824]
Predicted Effect probably benign
Transcript: ENSMUST00000065889
AA Change: S685T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014
AA Change: S685T

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
AA Change: S685T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014
AA Change: S685T

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: S686T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014
AA Change: S686T

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
AA Change: S685T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014
AA Change: S685T

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 unknown
Transcript: ENSMUST00000111824
AA Change: S685T
SMART Domains Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014
AA Change: S685T

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 0.1121 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik A C 17: 23,710,515 probably benign Het
2210408I21Rik T G 13: 77,334,287 C1209G probably benign Het
Abcg2 C A 6: 58,678,300 L407I probably benign Het
Adtrp A G 13: 41,814,303 V56A probably damaging Het
Angptl6 T G 9: 20,878,308 N96T probably benign Het
Ank3 C A 10: 69,898,302 N780K possibly damaging Het
AU040320 A T 4: 126,823,640 probably benign Het
Best2 C T 8: 85,011,160 R202H probably benign Het
Bod1l A T 5: 41,821,053 S973T probably benign Het
Brca2 T A 5: 150,542,747 V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 P539L probably benign Het
Ccr1 A T 9: 123,963,494 V333E possibly damaging Het
Celf5 A T 10: 81,471,338 V83E probably damaging Het
Col15a1 T C 4: 47,257,275 probably benign Het
Coro1b C A 19: 4,149,902 H81N probably damaging Het
Cyp2d26 C A 15: 82,794,041 G45W probably damaging Het
Dysf T A 6: 84,067,069 N297K probably damaging Het
Edem1 T A 6: 108,851,253 L513Q probably damaging Het
Erich1 G A 8: 14,090,530 probably benign Het
Fam196b A G 11: 34,402,740 T261A probably benign Het
Fam91a1 T C 15: 58,430,669 V286A possibly damaging Het
Fdxr C A 11: 115,271,782 probably benign Het
Gas7 T C 11: 67,670,686 probably benign Het
Glb1l2 T C 9: 26,794,101 D151G probably damaging Het
Gm14410 A C 2: 177,193,489 Y327* probably null Het
H6pd A G 4: 149,995,956 I136T possibly damaging Het
Hectd1 A T 12: 51,764,164 probably benign Het
Hipk1 T C 3: 103,761,524 T519A possibly damaging Het
Hpd A G 5: 123,176,090 probably null Het
Olfr371 T A 8: 85,230,771 I92N probably damaging Het
Olfr809 A G 10: 129,776,433 D188G probably damaging Het
Pcdha11 A G 18: 37,007,704 probably benign Het
Pdgfrb T C 18: 61,064,002 I170T probably benign Het
Rasgrp1 A T 2: 117,284,939 F723I possibly damaging Het
Retnlg A G 16: 48,873,654 T58A possibly damaging Het
Rrs1 G A 1: 9,545,767 E82K probably damaging Het
Rtel1 A G 2: 181,334,939 K243E probably benign Het
Slc19a2 G A 1: 164,263,445 G274D probably damaging Het
Slc22a27 T C 19: 7,909,694 probably null Het
Slc6a1 T C 6: 114,311,829 F266L probably damaging Het
Snx25 T G 8: 46,035,715 I868L probably damaging Het
Spag16 A G 1: 69,996,877 I355V probably benign Het
Tmem198 A T 1: 75,479,932 probably benign Het
Traf3ip3 A C 1: 193,184,478 S349A probably damaging Het
Trim17 A G 11: 58,971,215 N358D possibly damaging Het
Trmu A G 15: 85,892,674 T196A probably damaging Het
Tsen2 A G 6: 115,561,435 Y291C probably damaging Het
Vps13d A G 4: 145,126,471 F2358L probably benign Het
Wnt2 T C 6: 17,989,947 H317R probably benign Het
Zfp120 A T 2: 150,119,929 V33E probably damaging Het
Zfp407 C T 18: 84,559,773 A1072T probably benign Het
Other mutations in Cwc22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Cwc22 APN 2 77917064 missense probably benign 0.00
IGL01739:Cwc22 APN 2 77927296 missense probably damaging 1.00
IGL01754:Cwc22 APN 2 77924539 missense probably damaging 0.99
IGL02011:Cwc22 APN 2 77921022 missense possibly damaging 0.88
R0115:Cwc22 UTSW 2 77908111 missense probably damaging 1.00
R0271:Cwc22 UTSW 2 77920858 missense probably benign 0.19
R0481:Cwc22 UTSW 2 77908111 missense probably damaging 1.00
R1086:Cwc22 UTSW 2 77924480 unclassified probably benign
R1394:Cwc22 UTSW 2 77929479 missense possibly damaging 0.91
R1445:Cwc22 UTSW 2 77917177 splice site probably benign
R1448:Cwc22 UTSW 2 77911555 missense probably damaging 1.00
R1640:Cwc22 UTSW 2 77915530 missense possibly damaging 0.82
R1800:Cwc22 UTSW 2 77929453 missense possibly damaging 0.70
R1822:Cwc22 UTSW 2 77924659 unclassified probably benign
R1916:Cwc22 UTSW 2 77905475 missense probably benign 0.28
R2225:Cwc22 UTSW 2 77908151 splice site probably benign
R2360:Cwc22 UTSW 2 77927247 missense probably damaging 1.00
R3113:Cwc22 UTSW 2 77924479 unclassified probably benign
R4962:Cwc22 UTSW 2 77896309 missense probably benign 0.00
R5363:Cwc22 UTSW 2 77929459 frame shift probably null
R5394:Cwc22 UTSW 2 77929339 missense possibly damaging 0.67
R5467:Cwc22 UTSW 2 77929459 frame shift probably null
R5531:Cwc22 UTSW 2 77924569 missense probably damaging 0.99
R5677:Cwc22 UTSW 2 77929443 missense probably damaging 0.97
R6148:Cwc22 UTSW 2 77929459 frame shift probably null
R6263:Cwc22 UTSW 2 77896171 missense possibly damaging 0.93
R6860:Cwc22 UTSW 2 77929448 missense possibly damaging 0.53
R7133:Cwc22 UTSW 2 77929478 missense possibly damaging 0.91
R7571:Cwc22 UTSW 2 77917067 missense probably benign
Predicted Primers
Posted On2014-01-15