Incidental Mutation 'R7239:Ccdc33'
ID 563085
Institutional Source Beutler Lab
Gene Symbol Ccdc33
Ensembl Gene ENSMUSG00000037716
Gene Name coiled-coil domain containing 33
Synonyms LOC382077, 4930535E21Rik
MMRRC Submission 045346-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7239 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 58028677-58118823 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 58032909 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 713 (Q713*)
Ref Sequence ENSEMBL: ENSMUSP00000096279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000215944]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000042205
AA Change: Q528*
SMART Domains Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: Q528*

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 null
Transcript: ENSMUST00000098682
AA Change: Q713*
SMART Domains Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: Q713*

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 null
Transcript: ENSMUST00000119665
AA Change: Q527*
SMART Domains Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: Q527*

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 null
Transcript: ENSMUST00000215944
AA Change: Q713*
Meta Mutation Damage Score 0.9752 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (76/77)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik A G 16: 21,653,518 (GRCm38) V144A probably damaging Het
4930402H24Rik C A 2: 130,806,788 (GRCm38) R258L unknown Het
Abca5 A T 11: 110,326,704 (GRCm38) Y109N possibly damaging Het
Abcb5 T C 12: 118,928,725 (GRCm38) Q433R probably benign Het
Adamts7 G A 9: 90,186,557 (GRCm38) probably null Het
Adgrv1 T C 13: 81,476,612 (GRCm38) D3746G possibly damaging Het
Arhgap29 C T 3: 121,988,950 (GRCm38) S159L probably benign Het
Arhgap5 T A 12: 52,517,376 (GRCm38) C377S probably benign Het
Atp1a3 G A 7: 25,000,704 (GRCm38) P77L probably damaging Het
B4galt1 T C 4: 40,812,754 (GRCm38) D257G probably damaging Het
Bin1 T A 18: 32,406,171 (GRCm38) N52K probably damaging Het
Catsperg2 A G 7: 29,710,082 (GRCm38) M562T probably benign Het
Cd96 A T 16: 46,109,114 (GRCm38) L156Q probably damaging Het
Clpb A G 7: 101,711,455 (GRCm38) T231A probably damaging Het
Dnmt3a A T 12: 3,872,850 (GRCm38) Q151L probably benign Het
Dock2 C T 11: 34,231,677 (GRCm38) V1629M probably benign Het
Edem1 G A 6: 108,854,380 (GRCm38) D601N probably benign Het
Eno2 C T 6: 124,768,265 (GRCm38) V20M probably damaging Het
Eny2 A C 15: 44,433,854 (GRCm38) D52A probably benign Het
Esp36 T C 17: 38,417,241 (GRCm38) R93G possibly damaging Het
Fam227a A G 15: 79,634,062 (GRCm38) probably null Het
Fat4 C A 3: 38,983,840 (GRCm38) H3880Q possibly damaging Het
Fbxw24 A T 9: 109,605,530 (GRCm38) V334E possibly damaging Het
Flrt1 T C 19: 7,095,964 (GRCm38) Q406R probably benign Het
Frmpd2 A G 14: 33,552,077 (GRCm38) N1092S probably benign Het
Gm904 C A 13: 50,645,251 (GRCm38) T82K probably benign Het
Gnas G C 2: 174,298,615 (GRCm38) G252R unknown Het
Gpatch2l A G 12: 86,260,575 (GRCm38) probably null Het
Hist1h2ac A T 13: 23,683,610 (GRCm38) I103N probably damaging Het
Ift74 T C 4: 94,652,950 (GRCm38) V204A probably benign Het
Ikzf4 A G 10: 128,641,244 (GRCm38) L119P probably damaging Het
Ing3 G A 6: 21,952,194 (GRCm38) E56K probably damaging Het
Klhl25 T C 7: 75,866,768 (GRCm38) I474T probably benign Het
Klhl5 T C 5: 65,161,186 (GRCm38) V556A probably damaging Het
Krt14 A T 11: 100,204,255 (GRCm38) M382K probably benign Het
Lmcd1 T C 6: 112,315,784 (GRCm38) V199A possibly damaging Het
Lpcat4 T A 2: 112,242,707 (GRCm38) F200I possibly damaging Het
Lrp1b T C 2: 41,004,713 (GRCm38) T2282A Het
Lrrk1 T C 7: 66,262,155 (GRCm38) T1886A probably benign Het
Meis2 T C 2: 116,059,003 (GRCm38) probably null Het
Mki67 C T 7: 135,700,176 (GRCm38) R1043K possibly damaging Het
Myct1 G T 10: 5,604,601 (GRCm38) R156L possibly damaging Het
Nckap5l G T 15: 99,426,209 (GRCm38) H804Q probably damaging Het
Ndst3 T G 3: 123,606,906 (GRCm38) E450D probably damaging Het
Nipbl A T 15: 8,292,135 (GRCm38) probably null Het
Npy A G 6: 49,823,607 (GRCm38) N4D probably benign Het
Olfr855 A T 9: 19,585,191 (GRCm38) Y218F probably damaging Het
Osgin2 T C 4: 16,008,748 (GRCm38) S18G probably benign Het
Pcdha9 T G 18: 36,998,498 (GRCm38) F207V probably benign Het
Pcdhb13 A T 18: 37,444,644 (GRCm38) I692F probably damaging Het
Pde3b T A 7: 114,416,149 (GRCm38) V200E probably damaging Het
Ppp6r3 A T 19: 3,493,981 (GRCm38) L345I probably benign Het
Psd2 G A 18: 35,980,419 (GRCm38) A315T probably damaging Het
Rnf111 G A 9: 70,469,373 (GRCm38) T328I probably damaging Het
Rnf213 T C 11: 119,458,788 (GRCm38) L3825P Het
Rtl1 C T 12: 109,592,475 (GRCm38) V977I probably benign Het
Scn1a G A 2: 66,277,656 (GRCm38) probably null Het
Slc25a2 G T 18: 37,637,695 (GRCm38) N260K probably benign Het
Sprtn T C 8: 124,900,244 (GRCm38) V121A probably damaging Het
Ssx2ip T G 3: 146,428,016 (GRCm38) L260W probably damaging Het
Syde1 G A 10: 78,588,781 (GRCm38) R406C probably damaging Het
Tab1 A G 15: 80,133,171 (GRCm38) R6G probably benign Het
Tenm4 G A 7: 96,735,813 (GRCm38) V526I possibly damaging Het
Tenm4 G A 7: 96,553,496 (GRCm38) R106H probably benign Het
Tfap2b T C 1: 19,234,180 (GRCm38) F405L probably damaging Het
Trbv13-1 C A 6: 41,116,391 (GRCm38) T87K probably benign Het
Trmt44 G T 5: 35,574,786 (GRCm38) A87E probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,399,157 (GRCm38) probably null Het
Ttn G A 2: 76,881,328 (GRCm38) R8290C unknown Het
Ttn T C 2: 76,787,290 (GRCm38) D16279G probably damaging Het
Ugt2b37 T A 5: 87,254,731 (GRCm38) I14L probably benign Het
Vmn1r13 A T 6: 57,210,626 (GRCm38) M257L probably benign Het
Vmn1r184 C T 7: 26,267,177 (GRCm38) P116L possibly damaging Het
Zfp426 T C 9: 20,470,591 (GRCm38) T367A probably benign Het
Zfp647 A T 15: 76,911,756 (GRCm38) C235S probably 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
IGL02028:Ccdc33 APN 9 58,076,578 (GRCm38) missense probably benign 0.13
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
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
Predicted Primers PCR Primer
(F):5'- ACCCACCCATGATAGGCTTC -3'
(R):5'- GCTGGAGTAACTCTCATGGATC -3'

Sequencing Primer
(F):5'- CATGATAGGCTTCCCCTGTGG -3'
(R):5'- ATGGATCCCATGTGTGCCC -3'
Posted On 2019-06-26