Incidental Mutation 'R0920:Ccdc33'
ID 82821
Institutional Source Beutler Lab
Gene Symbol Ccdc33
Ensembl Gene ENSMUSG00000037716
Gene Name coiled-coil domain containing 33
Synonyms LOC382077, 4930535E21Rik
MMRRC Submission 039070-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0920 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 58028677-58118823 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58033672 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 429 (D429G)
Ref Sequence ENSEMBL: ENSMUSP00000112613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000215944]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000042205
AA Change: D429G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: D429G

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: D614G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: D614G

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: D429G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: D429G

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: D614G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.3549 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik C T 16: 90,927,379 (GRCm38) E125K probably damaging Het
Adamts16 A G 13: 70,763,561 (GRCm38) probably benign Het
Adgra3 A G 5: 49,961,161 (GRCm38) V1015A probably benign Het
Armc5 G T 7: 128,240,319 (GRCm38) A270S probably damaging Het
Cacng1 A C 11: 107,705,856 (GRCm38) probably benign Het
Ccdc88b G T 19: 6,846,649 (GRCm38) A1412E probably benign Het
Clock A T 5: 76,230,320 (GRCm38) S578T possibly damaging Het
Crp T C 1: 172,698,522 (GRCm38) F58S probably damaging Het
Dlg5 T A 14: 24,176,397 (GRCm38) Q125L probably damaging Het
Eif3i T C 4: 129,595,257 (GRCm38) probably benign Het
Gm13124 T C 4: 144,561,126 (GRCm38) probably benign Het
Gucy1a2 A C 9: 3,759,472 (GRCm38) D426A probably damaging Het
Hpcal1 C T 12: 17,791,097 (GRCm38) probably benign Het
Inf2 T A 12: 112,610,287 (GRCm38) probably benign Het
Kdm7a A G 6: 39,151,322 (GRCm38) L525P probably damaging Het
Kirrel3 A T 9: 35,028,352 (GRCm38) I152F probably damaging Het
Knl1 T A 2: 119,069,828 (GRCm38) I670K probably benign Het
Krt76 T C 15: 101,892,439 (GRCm38) T141A possibly damaging Het
Ldb3 T C 14: 34,567,503 (GRCm38) T249A probably benign Het
Magi3 A T 3: 104,034,191 (GRCm38) probably null Het
Mfn1 A G 3: 32,534,236 (GRCm38) probably null Het
Myb G T 10: 21,126,234 (GRCm38) T736K possibly damaging Het
Myo5b A C 18: 74,625,641 (GRCm38) K231T probably benign Het
Myt1l T A 12: 29,886,139 (GRCm38) C909S unknown Het
Npas4 C A 19: 4,986,316 (GRCm38) E607* probably null Het
Nphp3 A G 9: 104,031,907 (GRCm38) N772S probably benign Het
Nup88 G T 11: 70,956,320 (GRCm38) P288Q possibly damaging Het
Olfr166 A T 16: 19,486,930 (GRCm38) I31F probably benign Het
Pknox1 C A 17: 31,596,891 (GRCm38) Q240K probably damaging Het
Plce1 A C 19: 38,736,521 (GRCm38) T1439P probably damaging Het
Ppp1r42 T A 1: 9,999,525 (GRCm38) N104I probably damaging Het
Prkar2a T A 9: 108,719,297 (GRCm38) probably benign Het
Stox2 C T 8: 47,193,018 (GRCm38) R469Q probably damaging Het
Syna A G 5: 134,559,102 (GRCm38) V331A probably benign Het
Vmn1r58 A T 7: 5,410,789 (GRCm38) N147K probably benign Het
Zdhhc6 A T 19: 55,311,701 (GRCm38) L148H 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
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
Predicted Primers PCR Primer
(F):5'- TGCTCCCTAGCTCCTGACAGTAAG -3'
(R):5'- AGACACATTTGTGTGGCCCTCC -3'

Sequencing Primer
(F):5'- CTCCTGACAGTAAGCCTGG -3'
(R):5'- TCCTAATACTCCCAGGAGAGATGAG -3'
Posted On 2013-11-08