Incidental Mutation 'R1541:Ccdc33'
ID 171741
Institutional Source Beutler Lab
Gene Symbol Ccdc33
Ensembl Gene ENSMUSG00000037716
Gene Name coiled-coil domain containing 33
Synonyms LOC382077, 4930535E21Rik
MMRRC Submission 039580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1541 (G1)
Quality Score 216
Status Not validated
Chromosome 9
Chromosomal Location 57935960-58026106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58024749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 159 (D159V)
Ref Sequence ENSEMBL: ENSMUSP00000149337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098681] [ENSMUST00000098682] [ENSMUST00000128021] [ENSMUST00000136154] [ENSMUST00000215944]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098681
AA Change: D159V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000098682
AA Change: D159V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: D159V

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: ENSMUST00000128021
SMART Domains Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 87 8.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131007
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 probably damaging
Transcript: ENSMUST00000215944
AA Change: D159V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A G 14: 103,286,769 (GRCm39) D24G probably damaging Het
Angptl2 G A 2: 33,136,177 (GRCm39) R454H probably benign Het
Atat1 T A 17: 36,215,223 (GRCm39) N181I probably damaging Het
Atp6v0d2 A C 4: 19,910,645 (GRCm39) F82V probably damaging Het
Calhm4 T C 10: 33,917,659 (GRCm39) H264R probably benign Het
Casp3 A G 8: 47,087,369 (GRCm39) I105M probably benign Het
Cd163 A C 6: 124,304,920 (GRCm39) D1099A probably benign Het
Cep128 A T 12: 91,315,555 (GRCm39) S110R probably damaging Het
Cfap43 A T 19: 47,752,291 (GRCm39) probably null Het
Cfap58 T C 19: 47,971,969 (GRCm39) I633T probably damaging Het
Clvs1 A G 4: 9,281,814 (GRCm39) H86R probably benign Het
Comt T C 16: 18,230,565 (GRCm39) K48R probably benign Het
Crip2 T C 12: 113,108,586 (GRCm39) V64A possibly damaging Het
Cstdc5 T A 16: 36,187,863 (GRCm39) M1L probably damaging Het
Cwf19l2 T A 9: 3,456,760 (GRCm39) S698T probably damaging Het
Dis3l T C 9: 64,214,771 (GRCm39) I933V probably benign Het
Dnah8 C A 17: 30,966,221 (GRCm39) N2470K probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Dtx1 T A 5: 120,848,411 (GRCm39) probably benign Het
Dzip1 G A 14: 119,116,890 (GRCm39) S782L probably damaging Het
Ece1 T A 4: 137,675,971 (GRCm39) probably null Het
Erich1 A G 8: 14,080,688 (GRCm39) I277T probably damaging Het
Gbp4 T A 5: 105,266,275 (GRCm39) M589L probably benign Het
Grip1 T C 10: 119,836,448 (GRCm39) I440T probably damaging Het
Helz C T 11: 107,560,874 (GRCm39) S1311L probably benign Het
Herc2 A T 7: 55,785,405 (GRCm39) I1552F probably damaging Het
Kif13a T C 13: 46,962,689 (GRCm39) T459A probably benign Het
Knop1 G A 7: 118,455,009 (GRCm39) probably benign Het
Llgl2 C A 11: 115,743,947 (GRCm39) T758K probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc71 T C 3: 87,649,148 (GRCm39) D340G possibly damaging Het
Luzp1 A G 4: 136,270,636 (GRCm39) D953G probably damaging Het
Mst1r T C 9: 107,794,562 (GRCm39) V1247A probably damaging Het
Ncoa4 A T 14: 31,898,845 (GRCm39) K555M probably damaging Het
Ncoa6 A T 2: 155,257,224 (GRCm39) L773Q probably benign Het
Ndc1 C T 4: 107,228,485 (GRCm39) Q70* probably null Het
Nfe2l3 C T 6: 51,434,585 (GRCm39) L382F probably damaging Het
Nlrp4b C A 7: 10,458,979 (GRCm39) T399N possibly damaging Het
Nsmce2 T A 15: 59,473,234 (GRCm39) D250E probably damaging Het
Nudt14 A T 12: 112,898,548 (GRCm39) L184Q probably damaging Het
Ogdhl G A 14: 32,062,624 (GRCm39) R570H possibly damaging Het
Or5p56 T C 7: 107,590,048 (GRCm39) F159L probably benign Het
Pira13 T C 7: 3,819,988 (GRCm39) D525G probably damaging Het
Plag1 A G 4: 3,904,085 (GRCm39) S369P probably benign Het
Ranbp2 A T 10: 58,318,916 (GRCm39) T2476S possibly damaging Het
Rnmt T C 18: 68,440,853 (GRCm39) L172P probably damaging Het
Sec24a T A 11: 51,634,623 (GRCm39) H101L probably benign Het
Sirpd T A 3: 15,385,744 (GRCm39) T53S possibly damaging Het
Srm A G 4: 148,677,881 (GRCm39) D173G probably damaging Het
Srp54b A G 12: 55,302,844 (GRCm39) D380G probably benign Het
Svs5 C T 2: 164,078,929 (GRCm39) R326Q possibly damaging Het
Tent4b T C 8: 88,972,227 (GRCm39) V222A probably damaging Het
Tfap2b C T 1: 19,304,294 (GRCm39) T350M probably damaging Het
Tie1 A T 4: 118,341,070 (GRCm39) C304S probably damaging Het
Tsc2 G T 17: 24,850,950 (GRCm39) T36N probably damaging Het
Wdhd1 A T 14: 47,505,649 (GRCm39) Y274* probably null Het
Wdr37 T C 13: 8,870,574 (GRCm39) T373A probably benign Het
Xirp2 A T 2: 67,342,634 (GRCm39) N1625I possibly damaging Het
Ythdf1 A C 2: 180,560,936 (GRCm39) S35A probably damaging Het
Zfp462 A G 4: 55,008,928 (GRCm39) N298S possibly damaging Het
Zfp541 T A 7: 15,812,437 (GRCm39) D363E probably benign Het
Zgpat A G 2: 181,020,658 (GRCm39) D277G probably benign Het
Znfx1 A T 2: 166,898,110 (GRCm39) N271K probably damaging Het
Other mutations in Ccdc33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Ccdc33 APN 9 57,977,257 (GRCm39) splice site probably benign
IGL01403:Ccdc33 APN 9 58,024,668 (GRCm39) missense probably damaging 1.00
IGL01411:Ccdc33 APN 9 58,024,919 (GRCm39) splice site probably benign
IGL01714:Ccdc33 APN 9 57,937,153 (GRCm39) missense possibly damaging 0.91
IGL02028:Ccdc33 APN 9 57,983,861 (GRCm39) missense probably benign 0.13
IGL02158:Ccdc33 APN 9 57,937,702 (GRCm39) missense probably damaging 0.99
IGL02174:Ccdc33 APN 9 57,940,938 (GRCm39) missense probably benign 0.45
IGL02805:Ccdc33 APN 9 58,005,874 (GRCm39) missense probably benign 0.43
R0276:Ccdc33 UTSW 9 57,965,675 (GRCm39) missense probably damaging 0.99
R0537:Ccdc33 UTSW 9 58,024,737 (GRCm39) missense probably damaging 1.00
R0737:Ccdc33 UTSW 9 57,989,331 (GRCm39) missense probably damaging 0.99
R0789:Ccdc33 UTSW 9 58,024,497 (GRCm39) splice site probably benign
R0791:Ccdc33 UTSW 9 57,936,046 (GRCm39) missense possibly damaging 0.66
R0920:Ccdc33 UTSW 9 57,940,955 (GRCm39) missense probably damaging 0.99
R1759:Ccdc33 UTSW 9 58,024,729 (GRCm39) missense possibly damaging 0.84
R1857:Ccdc33 UTSW 9 57,939,991 (GRCm39) missense possibly damaging 0.66
R1976:Ccdc33 UTSW 9 58,024,445 (GRCm39) nonsense probably null
R1982:Ccdc33 UTSW 9 58,024,451 (GRCm39) missense probably benign 0.07
R2044:Ccdc33 UTSW 9 57,938,395 (GRCm39) missense possibly damaging 0.93
R2224:Ccdc33 UTSW 9 57,989,305 (GRCm39) missense probably damaging 1.00
R2225:Ccdc33 UTSW 9 57,989,305 (GRCm39) missense probably damaging 1.00
R2227:Ccdc33 UTSW 9 57,989,305 (GRCm39) missense probably damaging 1.00
R2369:Ccdc33 UTSW 9 57,983,913 (GRCm39) missense probably benign 0.44
R3899:Ccdc33 UTSW 9 57,940,200 (GRCm39) missense probably damaging 0.99
R4468:Ccdc33 UTSW 9 57,977,155 (GRCm39) missense possibly damaging 0.67
R4468:Ccdc33 UTSW 9 57,937,235 (GRCm39) missense possibly damaging 0.93
R4703:Ccdc33 UTSW 9 57,940,953 (GRCm39) missense possibly damaging 0.86
R4705:Ccdc33 UTSW 9 58,024,840 (GRCm39) missense probably benign 0.01
R4790:Ccdc33 UTSW 9 57,937,240 (GRCm39) missense probably damaging 0.96
R4817:Ccdc33 UTSW 9 57,974,818 (GRCm39) missense probably damaging 0.98
R4879:Ccdc33 UTSW 9 57,974,839 (GRCm39) missense possibly damaging 0.86
R4931:Ccdc33 UTSW 9 57,977,134 (GRCm39) missense probably damaging 1.00
R5015:Ccdc33 UTSW 9 58,025,918 (GRCm39) missense probably damaging 1.00
R5223:Ccdc33 UTSW 9 57,940,267 (GRCm39) missense possibly damaging 0.91
R5327:Ccdc33 UTSW 9 57,993,860 (GRCm39) missense probably benign 0.00
R5528:Ccdc33 UTSW 9 57,936,078 (GRCm39) missense probably benign 0.06
R5534:Ccdc33 UTSW 9 58,024,450 (GRCm39) missense possibly damaging 0.83
R5786:Ccdc33 UTSW 9 57,937,235 (GRCm39) missense possibly damaging 0.93
R5844:Ccdc33 UTSW 9 57,940,489 (GRCm39) splice site probably benign
R5975:Ccdc33 UTSW 9 58,024,761 (GRCm39) missense possibly damaging 0.49
R6120:Ccdc33 UTSW 9 57,993,883 (GRCm39) missense probably damaging 1.00
R6256:Ccdc33 UTSW 9 58,009,201 (GRCm39) splice site probably null
R6363:Ccdc33 UTSW 9 58,021,618 (GRCm39) missense probably benign 0.00
R6610:Ccdc33 UTSW 9 57,976,419 (GRCm39) missense possibly damaging 0.66
R6767:Ccdc33 UTSW 9 57,940,527 (GRCm39) missense possibly damaging 0.96
R7072:Ccdc33 UTSW 9 58,019,267 (GRCm39) makesense probably null
R7121:Ccdc33 UTSW 9 57,988,167 (GRCm39) missense probably benign 0.00
R7182:Ccdc33 UTSW 9 57,941,456 (GRCm39) splice site probably null
R7239:Ccdc33 UTSW 9 57,940,192 (GRCm39) nonsense probably null
R7655:Ccdc33 UTSW 9 58,025,748 (GRCm39) missense probably damaging 0.97
R7656:Ccdc33 UTSW 9 58,025,748 (GRCm39) missense probably damaging 0.97
R7868:Ccdc33 UTSW 9 57,976,374 (GRCm39) missense probably benign
R8215:Ccdc33 UTSW 9 57,939,995 (GRCm39) missense probably benign 0.18
R9139:Ccdc33 UTSW 9 57,983,842 (GRCm39) missense probably benign 0.04
R9204:Ccdc33 UTSW 9 57,938,388 (GRCm39) missense probably benign 0.33
R9280:Ccdc33 UTSW 9 57,965,549 (GRCm39) missense probably benign
R9297:Ccdc33 UTSW 9 57,993,876 (GRCm39) missense possibly damaging 0.85
R9318:Ccdc33 UTSW 9 57,993,876 (GRCm39) missense possibly damaging 0.85
R9361:Ccdc33 UTSW 9 58,024,908 (GRCm39) missense possibly damaging 0.96
R9664:Ccdc33 UTSW 9 57,993,855 (GRCm39) missense possibly damaging 0.85
RF003:Ccdc33 UTSW 9 57,965,574 (GRCm39) missense probably benign 0.18
Z1176:Ccdc33 UTSW 9 58,024,699 (GRCm39) missense probably benign 0.01
Z1177:Ccdc33 UTSW 9 58,025,868 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- TGCAGACAGCCAGTTTCATCAAAGG -3'
(R):5'- TTTAAAGCCATGTTCTCCACCCAGG -3'

Sequencing Primer
(F):5'- TCAAAGGCTGTGTCCTGAAC -3'
(R):5'- AGGGTTCTGTAAGAATGATGGGC -3'
Posted On 2014-04-13