Incidental Mutation 'IGL02028:Ccdc33'
ID 184272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc33
Ensembl Gene ENSMUSG00000037716
Gene Name coiled-coil domain containing 33
Synonyms LOC382077, 4930535E21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02028
Quality Score
Status
Chromosome 9
Chromosomal Location 58028677-58118823 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58076578 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 446 (N446S)
Ref Sequence ENSEMBL: ENSMUSP00000149337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000128021] [ENSMUST00000136154] [ENSMUST00000215944]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042205
AA Change: N237S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: N237S

DomainStartEndE-ValueType
C2 36 140 5.79e-3 SMART
coiled coil region 413 451 N/A INTRINSIC
coiled coil region 472 560 N/A INTRINSIC
coiled coil region 630 668 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098682
AA Change: N446S

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: N446S

DomainStartEndE-ValueType
C2 281 385 5.79e-3 SMART
coiled coil region 598 636 N/A INTRINSIC
coiled coil region 657 745 N/A INTRINSIC
coiled coil region 884 922 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119665
AA Change: N237S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: N237S

DomainStartEndE-ValueType
C2 36 140 5.79e-3 SMART
coiled coil region 413 559 N/A INTRINSIC
coiled coil region 629 667 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128021
SMART Domains Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 87 8.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136154
SMART Domains Protein: ENSMUSP00000119062
Gene: ENSMUSG00000032327

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 199 1.7e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151404
Predicted Effect probably benign
Transcript: ENSMUST00000215944
AA Change: N446S

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,434,283 (GRCm38) Y53C probably damaging Het
Acacb T A 5: 114,166,015 (GRCm38) D166E probably damaging Het
Akap8l T C 17: 32,338,521 (GRCm38) probably null Het
Arl6ip5 A G 6: 97,229,650 (GRCm38) Y97C probably damaging Het
Atad5 T A 11: 80,134,110 (GRCm38) S1772R probably benign Het
Ccdc106 A G 7: 5,059,646 (GRCm38) Q155R probably damaging Het
Cdh2 T C 18: 16,650,420 (GRCm38) D84G probably benign Het
Cntn6 A G 6: 104,859,426 (GRCm38) K918E probably damaging Het
Dock6 T C 9: 21,838,826 (GRCm38) D521G probably damaging Het
Etv6 C T 6: 134,248,733 (GRCm38) A309V probably benign Het
Ezh1 G T 11: 101,199,340 (GRCm38) H529Q probably damaging Het
Figla T C 6: 86,017,363 (GRCm38) L40P probably damaging Het
Gabra4 T A 5: 71,633,596 (GRCm38) Q301L probably damaging Het
Glt1d1 G A 5: 127,706,920 (GRCm38) V313M possibly damaging Het
Gm28778 T A 1: 53,317,961 (GRCm38) I94K possibly damaging Het
Gm4847 T C 1: 166,642,196 (GRCm38) K103E probably benign Het
Gne A G 4: 44,066,852 (GRCm38) S23P probably damaging Het
Hipk2 A G 6: 38,818,756 (GRCm38) C186R possibly damaging Het
Lrp1b C T 2: 41,511,452 (GRCm38) V283I probably damaging Het
Mcm10 A T 2: 5,008,700 (GRCm38) D40E possibly damaging Het
Morc2b T A 17: 33,137,413 (GRCm38) I462F possibly damaging Het
Myh1 T A 11: 67,210,615 (GRCm38) I711N probably damaging Het
Oit3 A G 10: 59,438,655 (GRCm38) F108L probably damaging Het
Or4f4b T C 2: 111,483,471 (GRCm38) F14L probably benign Het
Or8b49 T A 9: 38,594,419 (GRCm38) L66* probably null Het
Polr1g T C 7: 19,357,078 (GRCm38) K368R probably damaging Het
Rbm19 A G 5: 120,120,236 (GRCm38) D172G probably damaging Het
Ribc2 A G 15: 85,143,335 (GRCm38) D339G possibly damaging Het
Rras2 C A 7: 114,060,362 (GRCm38) V56L probably benign Het
Scn2a A G 2: 65,763,658 (GRCm38) E1617G probably damaging Het
Slc13a1 T A 6: 24,118,031 (GRCm38) M236L probably benign Het
Snrnp27 C T 6: 86,682,973 (GRCm38) R13H unknown Het
Srgap2 T C 1: 131,296,435 (GRCm38) K92E probably damaging Het
Suco T C 1: 161,856,859 (GRCm38) K231E possibly damaging Het
Tll2 C A 19: 41,098,649 (GRCm38) E588* probably null Het
Tmem215 A T 4: 40,473,940 (GRCm38) I6L possibly damaging Het
Tnc A C 4: 63,966,672 (GRCm38) probably benign Het
Tob1 G A 11: 94,214,226 (GRCm38) G196D probably benign Het
Ubtfl1 T A 9: 18,409,553 (GRCm38) Y126N possibly damaging Het
Uck1 G T 2: 32,258,137 (GRCm38) Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,030,884 (GRCm38) noncoding transcript Het
Vmn1r88 C T 7: 13,177,792 (GRCm38) S25L probably benign Het
Vmn2r109 T G 17: 20,541,080 (GRCm38) I672L probably benign Het
Vmn2r23 T C 6: 123,741,860 (GRCm38) F724S probably damaging Het
Vmn2r54 A T 7: 12,632,161 (GRCm38) F282Y probably damaging Het
Vmn2r82 A T 10: 79,379,223 (GRCm38) I347F probably benign Het
Wasf2 G A 4: 133,195,801 (GRCm38) R474H probably damaging Het
Wdr60 C A 12: 116,256,061 (GRCm38) R87L probably benign Het
Zmym5 T C 14: 56,804,160 (GRCm38) H162R possibly damaging Het
Other mutations in Ccdc33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Ccdc33 APN 9 58,069,974 (GRCm38) splice site probably benign
IGL01403:Ccdc33 APN 9 58,117,385 (GRCm38) missense probably damaging 1.00
IGL01411:Ccdc33 APN 9 58,117,636 (GRCm38) splice site probably benign
IGL01714:Ccdc33 APN 9 58,029,870 (GRCm38) missense possibly damaging 0.91
IGL02158:Ccdc33 APN 9 58,030,419 (GRCm38) missense probably damaging 0.99
IGL02174:Ccdc33 APN 9 58,033,655 (GRCm38) missense probably benign 0.45
IGL02805:Ccdc33 APN 9 58,098,591 (GRCm38) missense probably benign 0.43
R0276:Ccdc33 UTSW 9 58,058,392 (GRCm38) missense probably damaging 0.99
R0537:Ccdc33 UTSW 9 58,117,454 (GRCm38) missense probably damaging 1.00
R0737:Ccdc33 UTSW 9 58,082,048 (GRCm38) missense probably damaging 0.99
R0789:Ccdc33 UTSW 9 58,117,214 (GRCm38) splice site probably benign
R0791:Ccdc33 UTSW 9 58,028,763 (GRCm38) missense possibly damaging 0.66
R0920:Ccdc33 UTSW 9 58,033,672 (GRCm38) missense probably damaging 0.99
R1541:Ccdc33 UTSW 9 58,117,466 (GRCm38) missense probably damaging 0.99
R1759:Ccdc33 UTSW 9 58,117,446 (GRCm38) missense possibly damaging 0.84
R1857:Ccdc33 UTSW 9 58,032,708 (GRCm38) missense possibly damaging 0.66
R1976:Ccdc33 UTSW 9 58,117,162 (GRCm38) nonsense probably null
R1982:Ccdc33 UTSW 9 58,117,168 (GRCm38) missense probably benign 0.07
R2044:Ccdc33 UTSW 9 58,031,112 (GRCm38) missense possibly damaging 0.93
R2224:Ccdc33 UTSW 9 58,082,022 (GRCm38) missense probably damaging 1.00
R2225:Ccdc33 UTSW 9 58,082,022 (GRCm38) missense probably damaging 1.00
R2227:Ccdc33 UTSW 9 58,082,022 (GRCm38) missense probably damaging 1.00
R2369:Ccdc33 UTSW 9 58,076,630 (GRCm38) missense probably benign 0.44
R3899:Ccdc33 UTSW 9 58,032,917 (GRCm38) missense probably damaging 0.99
R4468:Ccdc33 UTSW 9 58,069,872 (GRCm38) missense possibly damaging 0.67
R4468:Ccdc33 UTSW 9 58,029,952 (GRCm38) missense possibly damaging 0.93
R4703:Ccdc33 UTSW 9 58,033,670 (GRCm38) missense possibly damaging 0.86
R4705:Ccdc33 UTSW 9 58,117,557 (GRCm38) missense probably benign 0.01
R4790:Ccdc33 UTSW 9 58,029,957 (GRCm38) missense probably damaging 0.96
R4817:Ccdc33 UTSW 9 58,067,535 (GRCm38) missense probably damaging 0.98
R4879:Ccdc33 UTSW 9 58,067,556 (GRCm38) missense possibly damaging 0.86
R4931:Ccdc33 UTSW 9 58,069,851 (GRCm38) missense probably damaging 1.00
R5015:Ccdc33 UTSW 9 58,118,635 (GRCm38) missense probably damaging 1.00
R5223:Ccdc33 UTSW 9 58,032,984 (GRCm38) missense possibly damaging 0.91
R5327:Ccdc33 UTSW 9 58,086,577 (GRCm38) missense probably benign 0.00
R5528:Ccdc33 UTSW 9 58,028,795 (GRCm38) missense probably benign 0.06
R5534:Ccdc33 UTSW 9 58,117,167 (GRCm38) missense possibly damaging 0.83
R5786:Ccdc33 UTSW 9 58,029,952 (GRCm38) missense possibly damaging 0.93
R5844:Ccdc33 UTSW 9 58,033,206 (GRCm38) splice site probably benign
R5975:Ccdc33 UTSW 9 58,117,478 (GRCm38) missense possibly damaging 0.49
R6120:Ccdc33 UTSW 9 58,086,600 (GRCm38) missense probably damaging 1.00
R6256:Ccdc33 UTSW 9 58,101,918 (GRCm38) splice site probably null
R6363:Ccdc33 UTSW 9 58,114,335 (GRCm38) missense probably benign 0.00
R6610:Ccdc33 UTSW 9 58,069,136 (GRCm38) missense possibly damaging 0.66
R6767:Ccdc33 UTSW 9 58,033,244 (GRCm38) missense possibly damaging 0.96
R7072:Ccdc33 UTSW 9 58,111,984 (GRCm38) makesense probably null
R7121:Ccdc33 UTSW 9 58,080,884 (GRCm38) missense probably benign 0.00
R7182:Ccdc33 UTSW 9 58,034,173 (GRCm38) splice site probably null
R7239:Ccdc33 UTSW 9 58,032,909 (GRCm38) nonsense probably null
R7655:Ccdc33 UTSW 9 58,118,465 (GRCm38) missense probably damaging 0.97
R7656:Ccdc33 UTSW 9 58,118,465 (GRCm38) missense probably damaging 0.97
R7868:Ccdc33 UTSW 9 58,069,091 (GRCm38) missense probably benign
R8215:Ccdc33 UTSW 9 58,032,712 (GRCm38) missense probably benign 0.18
R9139:Ccdc33 UTSW 9 58,076,559 (GRCm38) missense probably benign 0.04
R9204:Ccdc33 UTSW 9 58,031,105 (GRCm38) missense probably benign 0.33
R9280:Ccdc33 UTSW 9 58,058,266 (GRCm38) missense probably benign
R9297:Ccdc33 UTSW 9 58,086,593 (GRCm38) missense possibly damaging 0.85
R9318:Ccdc33 UTSW 9 58,086,593 (GRCm38) missense possibly damaging 0.85
R9361:Ccdc33 UTSW 9 58,117,625 (GRCm38) missense possibly damaging 0.96
R9664:Ccdc33 UTSW 9 58,086,572 (GRCm38) missense possibly damaging 0.85
RF003:Ccdc33 UTSW 9 58,058,291 (GRCm38) missense probably benign 0.18
Z1176:Ccdc33 UTSW 9 58,117,416 (GRCm38) missense probably benign 0.01
Z1177:Ccdc33 UTSW 9 58,118,585 (GRCm38) missense possibly damaging 0.56
Posted On 2014-05-07