Incidental Mutation 'IGL02011:Cwc22'
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ID183353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cwc22
Ensembl Gene ENSMUSG00000027014
Gene NameCWC22 spliceosome-associated protein
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02011
Quality Score
Status
Chromosome2
Chromosomal Location77881159-77946375 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77921022 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 363 (D363E)
Ref Sequence ENSEMBL: ENSMUSP00000107450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065889] [ENSMUST00000111818] [ENSMUST00000111819] [ENSMUST00000111821] [ENSMUST00000111824]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065889
AA Change: D362E

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014
AA Change: D362E

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 possibly damaging
Transcript: ENSMUST00000111818
AA Change: D362E

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014
AA Change: D362E

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 possibly damaging
Transcript: ENSMUST00000111819
AA Change: D363E

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014
AA Change: D363E

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 possibly damaging
Transcript: ENSMUST00000111821
AA Change: D362E

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014
AA Change: D362E

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
AA Change: D362E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014
AA Change: D362E

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: ENSMUST00000144727
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T A 14: 49,081,135 probably benign Het
Arg1 T C 10: 24,916,377 T215A probably benign Het
Arhgap15 A T 2: 43,780,755 K50N probably damaging Het
Ctdsp1 C T 1: 74,394,016 probably benign Het
Drd2 G T 9: 49,406,958 C400F probably damaging Het
Eef1akmt1 A T 14: 57,558,098 Y65N probably damaging Het
Gbp10 C A 5: 105,221,101 G291W probably damaging Het
Lrit1 T A 14: 37,062,323 V536E probably damaging Het
Olfr1411 T A 1: 92,596,899 Y127N probably damaging Het
Olfr464 C A 11: 87,914,882 W8L probably benign Het
Olfr599 G T 7: 103,338,849 R265L probably damaging Het
Pcdh12 C T 18: 38,281,420 G884D probably damaging Het
Pih1d1 G T 7: 45,156,732 A31S probably damaging Het
Plcxd2 T C 16: 45,965,091 D317G probably damaging Het
Prkaca T C 8: 83,990,936 F231S probably damaging Het
Raet1d T A 10: 22,371,574 I183K probably damaging Het
Scaper A G 9: 55,580,322 F752S probably damaging Het
Shisa9 C T 16: 12,244,638 T241I possibly damaging Het
Taar9 C T 10: 24,108,579 R319H possibly damaging Het
Unkl T A 17: 25,218,591 V365E probably damaging Het
Usp34 C T 11: 23,471,554 S3077F probably damaging Het
Vps16 A G 2: 130,441,479 I566V probably benign Het
Vrk2 T A 11: 26,471,717 T414S probably benign Het
Xpnpep1 A T 19: 53,002,465 probably benign Het
Zfp804a A G 2: 82,256,691 Q288R probably damaging 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
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
R1165:Cwc22 UTSW 2 77903898 missense probably damaging 0.98
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
R8168:Cwc22 UTSW 2 77927271 missense probably damaging 1.00
Posted On2014-05-07