Incidental Mutation 'IGL02158:Ccdc33'
ID 282338
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 # IGL02158
Quality Score
Status
Chromosome 9
Chromosomal Location 58028677-58118823 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58030419 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 623 (D623G)
Ref Sequence ENSEMBL: ENSMUSP00000112613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034874] [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000215944]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034874
SMART Domains Protein: ENSMUSP00000034874
Gene: ENSMUSG00000032323

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
Pfam:p450 49 507 1.8e-120 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000042205
AA Change: D624G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: D624G

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 possibly damaging
Transcript: ENSMUST00000098682
AA Change: D878G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: D878G

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 damaging
Transcript: ENSMUST00000119665
AA Change: D623G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: D623G

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 noncoding transcript
Transcript: ENSMUST00000143797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153106
Predicted Effect possibly damaging
Transcript: ENSMUST00000215944
AA Change: D843G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,256,619 (GRCm38) probably null Het
Abca2 A G 2: 25,447,879 (GRCm38) probably benign Het
Abcb11 A T 2: 69,299,925 (GRCm38) S262R probably damaging Het
Abhd12 T A 2: 150,848,421 (GRCm38) Q118L probably benign Het
Adam1a A T 5: 121,518,971 (GRCm38) L753* probably null Het
Ahctf1 A T 1: 179,779,652 (GRCm38) I699N possibly damaging Het
Arl11 C A 14: 61,311,038 (GRCm38) A99E probably damaging Het
Atp5o G A 16: 91,930,401 (GRCm38) R16W probably damaging Het
AW551984 T C 9: 39,599,325 (GRCm38) H238R probably null Het
Bpifb9a C A 2: 154,266,813 (GRCm38) probably benign Het
Carhsp1 A G 16: 8,663,713 (GRCm38) probably benign Het
Chd6 C A 2: 161,026,292 (GRCm38) R378L possibly damaging Het
Chn2 T C 6: 54,300,245 (GRCm38) probably benign Het
Clgn T G 8: 83,423,136 (GRCm38) I422S probably damaging Het
Col15a1 T A 4: 47,300,606 (GRCm38) probably null Het
Csgalnact1 C A 8: 68,401,492 (GRCm38) G219V probably damaging Het
Cyp2c39 T C 19: 39,568,130 (GRCm38) I470T probably benign Het
Dcaf11 T A 14: 55,564,523 (GRCm38) probably null Het
Dnah1 G T 14: 31,300,967 (GRCm38) T1071K probably benign Het
Dnah2 T A 11: 69,458,123 (GRCm38) M2513L probably benign Het
Dqx1 A G 6: 83,058,910 (GRCm38) probably benign Het
Gm1587 T C 14: 77,798,842 (GRCm38) E8G unknown Het
Hydin T C 8: 110,609,966 (GRCm38) I5125T possibly damaging Het
Ighv5-9 G T 12: 113,661,943 (GRCm38) P60Q probably damaging Het
Itga7 T G 10: 128,953,782 (GRCm38) L993R possibly damaging Het
Itpr3 A G 17: 27,098,442 (GRCm38) N857S probably damaging Het
Krt23 C T 11: 99,492,664 (GRCm38) probably benign Het
Lrp1 T C 10: 127,554,271 (GRCm38) N3093S probably benign Het
Mms22l T C 4: 24,505,349 (GRCm38) F203S probably damaging Het
Morn5 A G 2: 36,057,076 (GRCm38) D122G probably damaging Het
Mpp2 G T 11: 102,063,262 (GRCm38) L220I probably benign Het
Mrgpra6 A T 7: 47,185,952 (GRCm38) Y240* probably null Het
Mtmr12 T C 15: 12,237,930 (GRCm38) I165T probably damaging Het
Mylk2 C A 2: 152,919,157 (GRCm38) N428K probably damaging Het
Nfil3 A G 13: 52,968,152 (GRCm38) Y239H probably damaging Het
Notch1 A G 2: 26,460,339 (GRCm38) L2263P probably damaging Het
Olfr130 T A 17: 38,067,267 (GRCm38) I32N probably damaging Het
Olfr888 A G 9: 38,109,129 (GRCm38) M148V probably benign Het
P3h3 A T 6: 124,853,092 (GRCm38) Y387N probably damaging Het
Pdcd6ip A T 9: 113,680,053 (GRCm38) Y324* probably null Het
Plcb2 C A 2: 118,711,363 (GRCm38) R922L probably benign Het
Pml T C 9: 58,247,003 (GRCm38) T196A probably benign Het
Ppp2r1b C A 9: 50,861,609 (GRCm38) Q65K probably benign Het
Ric8a A G 7: 140,862,357 (GRCm38) T507A probably benign Het
Sec16a A G 2: 26,416,632 (GRCm38) probably null Het
Slc46a3 G T 5: 147,886,234 (GRCm38) T266N probably damaging Het
Smg1 A G 7: 118,212,946 (GRCm38) S41P possibly damaging Het
Snrnp200 T A 2: 127,237,483 (GRCm38) N1837K probably benign Het
Sptan1 A G 2: 30,030,324 (GRCm38) T2318A probably damaging Het
St7l C T 3: 104,874,832 (GRCm38) T175I possibly damaging Het
Tmc7 G A 7: 118,538,211 (GRCm38) R703C probably damaging Het
Urah A G 7: 140,836,886 (GRCm38) probably benign Het
Vmn1r42 A T 6: 89,845,314 (GRCm38) I91N probably damaging Het
Yy1 T A 12: 108,814,599 (GRCm38) probably benign 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
IGL02028:Ccdc33 APN 9 58,076,578 (GRCm38) missense probably benign 0.13
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 2015-04-16