Incidental Mutation 'R7868:Ccdc33'
ID 607921
Institutional Source Beutler Lab
Gene Symbol Ccdc33
Ensembl Gene ENSMUSG00000037716
Gene Name coiled-coil domain containing 33
Synonyms LOC382077, 4930535E21Rik
MMRRC Submission 045920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7868 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 58028677-58118823 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58069091 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 547 (I547F)
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 benign
Transcript: ENSMUST00000042205
AA Change: I338F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: I338F

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: I547F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: I547F

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: I338F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: I338F

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: ENSMUST00000215944
AA Change: I547F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,587,430 (GRCm38) probably null Het
Acacb A G 5: 114,248,227 (GRCm38) E2274G probably benign Het
Adam7 A G 14: 68,532,641 (GRCm38) I21T possibly damaging Het
Aldh3b3 C T 19: 3,968,492 (GRCm38) R57* probably null Het
Arhgap22 T C 14: 33,364,516 (GRCm38) probably benign Het
B4galt5 G T 2: 167,301,420 (GRCm38) Y361* probably null Het
BC005537 C T 13: 24,803,399 (GRCm38) R7W possibly damaging Het
Bsn G T 9: 108,114,899 (GRCm38) A1218D possibly damaging Het
Ccdc141 T C 2: 77,108,412 (GRCm38) D283G probably damaging Het
Chdh A G 14: 30,031,331 (GRCm38) N66D probably benign Het
Ckap2l T A 2: 129,285,289 (GRCm38) Q323L probably damaging Het
Cpvl T A 6: 53,974,760 (GRCm38) I13F possibly damaging Het
Creb3l2 G A 6: 37,335,869 (GRCm38) P410L probably damaging Het
Dna2 T C 10: 62,969,864 (GRCm38) V960A probably benign Het
Dopey1 G A 9: 86,501,984 (GRCm38) probably null Het
Dpysl5 A T 5: 30,745,416 (GRCm38) D64V probably damaging Het
Dysf A G 6: 84,114,099 (GRCm38) Q1041R probably benign Het
Efcab7 T C 4: 99,888,957 (GRCm38) V242A probably benign Het
Ehbp1 G A 11: 22,146,542 (GRCm38) R341* probably null Het
Fbxo32 A T 15: 58,214,590 (GRCm38) W8R probably damaging Het
Fpgs T C 2: 32,683,460 (GRCm38) N455D probably damaging Het
Fsip1 G A 2: 118,136,486 (GRCm38) Q453* probably null Het
Gm13103 A G 4: 143,851,584 (GRCm38) H138R possibly damaging Het
Gm8257 T A 14: 44,657,297 (GRCm38) E12V probably damaging Het
Gm8300 G T 12: 87,516,618 (GRCm38) probably benign Het
Kdm3a A T 6: 71,595,489 (GRCm38) D1029E probably benign Het
Lipo4 T G 19: 33,511,568 (GRCm38) Q205P possibly damaging Het
Lpar6 A T 14: 73,238,995 (GRCm38) N132I probably damaging Het
Lrp1b C T 2: 41,449,234 (GRCm38) G866S Het
Man2c1 T C 9: 57,137,986 (GRCm38) F460L probably damaging Het
Map3k7cl T C 16: 87,581,212 (GRCm38) V72A probably damaging Het
Map4k1 A T 7: 28,999,962 (GRCm38) probably null Het
Matn1 A G 4: 130,955,000 (GRCm38) E496G probably damaging Het
Mfsd2a A T 4: 122,956,855 (GRCm38) V76E possibly damaging Het
Mtpap A G 18: 4,380,673 (GRCm38) E117G probably damaging Het
Muc3 T A 5: 137,146,777 (GRCm38) N15I Het
Mut C T 17: 40,947,043 (GRCm38) R367C probably damaging Het
Ndufa10 A G 1: 92,460,447 (GRCm38) Y275H probably damaging Het
Nlrc4 A T 17: 74,448,052 (GRCm38) H56Q possibly damaging Het
Nrde2 G A 12: 100,131,187 (GRCm38) R785C possibly damaging Het
Nsun4 C A 4: 116,034,132 (GRCm38) C350F probably benign Het
Olfr1410 G A 1: 92,608,515 (GRCm38) G226D possibly damaging Het
Olfr229 T A 9: 39,909,986 (GRCm38) F61Y probably benign Het
Olfr417 A G 1: 174,368,985 (GRCm38) T23A probably benign Het
Olfr560 A G 7: 102,753,605 (GRCm38) L108P possibly damaging Het
Pdcd7 T A 9: 65,346,979 (GRCm38) C280S probably damaging Het
Peak1 G T 9: 56,260,470 (GRCm38) T58K probably damaging Het
Phactr2 T C 10: 13,232,609 (GRCm38) E573G probably damaging Het
Ptprz1 G A 6: 23,000,964 (GRCm38) A1018T not run Het
Ralgapa1 G T 12: 55,612,638 (GRCm38) D2032E probably benign Het
Rapgef4 T A 2: 72,201,137 (GRCm38) N488K probably benign Het
Slc1a2 A G 2: 102,761,185 (GRCm38) D420G probably benign Het
Smyd5 T A 6: 85,444,315 (GRCm38) L337Q probably damaging Het
Tenm4 G A 7: 96,906,380 (GRCm38) R2764H possibly damaging Het
Tex35 A T 1: 157,099,338 (GRCm38) Y195* probably null Het
Tln2 T C 9: 67,348,226 (GRCm38) K690E probably damaging Het
Trpc4 A G 3: 54,302,286 (GRCm38) T691A probably benign Het
Tsr1 T A 11: 74,900,332 (GRCm38) F246I possibly damaging Het
Ttn ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG 2: 76,915,806 (GRCm38) probably benign Het
Ubr4 A T 4: 139,460,033 (GRCm38) Y669F unknown Het
Uox A C 3: 146,610,274 (GRCm38) D12A probably benign Het
Wdr17 A G 8: 54,696,267 (GRCm38) probably null 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
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
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'- CCTGATAGAGGCTGCTAAGAAG -3'
(R):5'- TCACTGACAGGACCTGATTTGG -3'

Sequencing Primer
(F):5'- AGCTACATTTACCCGGATGG -3'
(R):5'- GACAGGACCTGATTTGGCCTTTC -3'
Posted On 2019-12-20