Incidental Mutation 'R7320:Ccdc83'
ID 568138
Institutional Source Beutler Lab
Gene Symbol Ccdc83
Ensembl Gene ENSMUSG00000030617
Gene Name coiled-coil domain containing 83
Synonyms 4932423M01Rik, 4930549K11Rik, 4930554C01Rik
MMRRC Submission 045370-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7320 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 89873081-89914985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89873242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 371 (G371D)
Ref Sequence ENSEMBL: ENSMUSP00000102839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107221]
AlphaFold Q9D4V3
Predicted Effect probably damaging
Transcript: ENSMUST00000107221
AA Change: G371D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102839
Gene: ENSMUSG00000030617
AA Change: G371D

DomainStartEndE-ValueType
coiled coil region 37 75 N/A INTRINSIC
low complexity region 93 106 N/A INTRINSIC
coiled coil region 107 182 N/A INTRINSIC
Blast:BROMO 202 232 1e-5 BLAST
low complexity region 241 249 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,258,471 (GRCm39) I458T probably benign Het
Adam29 A G 8: 56,325,749 (GRCm39) I235T possibly damaging Het
Afap1 G A 5: 36,105,567 (GRCm39) V174I probably damaging Het
Ak8 A T 2: 28,703,004 (GRCm39) D456V probably damaging Het
Alb T C 5: 90,612,846 (GRCm39) probably null Het
Alox12 C T 11: 70,145,298 (GRCm39) A92T probably benign Het
Arhgap23 T C 11: 97,342,371 (GRCm39) S218P probably benign Het
Blm G A 7: 80,105,102 (GRCm39) Q1389* probably null Het
C1ql4 A T 15: 98,985,605 (GRCm39) V2E unknown Het
Casp12 A G 9: 5,348,897 (GRCm39) probably null Het
Ccdc73 A T 2: 104,829,521 (GRCm39) I1065F possibly damaging Het
Cfap65 A G 1: 74,965,763 (GRCm39) S416P probably damaging Het
Cftr T A 6: 18,319,012 (GRCm39) C1351S probably damaging Het
Clcn4 A T 7: 7,294,827 (GRCm39) H311Q probably benign Het
Cldn13 T G 5: 134,943,874 (GRCm39) I104L probably benign Het
Cul9 A G 17: 46,821,835 (GRCm39) V1880A possibly damaging Het
Ddx17 A T 15: 79,416,105 (GRCm39) D407E probably damaging Het
Ddx28 G A 8: 106,737,957 (GRCm39) P34S probably damaging Het
Dnah5 A T 15: 28,270,616 (GRCm39) N973Y probably null Het
Dnai4 A T 4: 102,907,384 (GRCm39) I634N possibly damaging Het
Dock10 A G 1: 80,527,421 (GRCm39) probably null Het
Dock3 T C 9: 106,772,723 (GRCm39) D510G probably benign Het
Dst T A 1: 34,230,175 (GRCm39) D2589E probably benign Het
E2f7 T C 10: 110,599,991 (GRCm39) Y249H not run Het
Eef2kmt T C 16: 5,068,373 (GRCm39) Y69C possibly damaging Het
Elapor1 T A 3: 108,371,619 (GRCm39) K650* probably null Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Exog G T 9: 119,291,544 (GRCm39) V274L possibly damaging Het
Fam83e G A 7: 45,371,896 (GRCm39) V98M probably benign Het
Fras1 C T 5: 96,857,745 (GRCm39) T2013I probably benign Het
Gart G T 16: 91,418,569 (GRCm39) A970E probably benign Het
Gga2 T A 7: 121,601,326 (GRCm39) H259L probably benign Het
Glis3 C A 19: 28,508,998 (GRCm39) V329F probably damaging Het
Gm6356 T A 14: 6,972,923 (GRCm38) N53I probably damaging Het
Golgb1 C A 16: 36,736,313 (GRCm39) C1894* probably null Het
Ifi203 T C 1: 173,756,733 (GRCm39) N350S unknown Het
Isy1 T A 6: 87,810,688 (GRCm39) R55S unknown Het
Itsn1 A T 16: 91,636,587 (GRCm39) D678V unknown Het
Lhcgr T A 17: 89,049,506 (GRCm39) R673S probably benign Het
Lnx2 C A 5: 146,956,943 (GRCm39) R601L possibly damaging Het
Map4 A G 9: 109,910,585 (GRCm39) T1093A probably benign Het
Minar1 A G 9: 89,483,679 (GRCm39) S573P probably benign Het
Mink1 A G 11: 70,489,899 (GRCm39) K92E probably benign Het
Moxd1 A G 10: 24,177,363 (GRCm39) I560V probably benign Het
Mrc2 C A 11: 105,220,061 (GRCm39) D327E possibly damaging Het
Notch2 A G 3: 98,038,643 (GRCm39) E1262G possibly damaging Het
Or2g1 T A 17: 38,107,248 (GRCm39) N304K probably benign Het
Or4k48 A G 2: 111,476,297 (GRCm39) L15S probably benign Het
Or52d3 C A 7: 104,229,645 (GRCm39) S264* probably null Het
Or5an1 G A 19: 12,261,180 (GRCm39) G256D possibly damaging Het
Or5b120 T A 19: 13,480,544 (GRCm39) M279K possibly damaging Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Or5m13 A T 2: 85,748,718 (GRCm39) I150F probably benign Het
Or6c5b A T 10: 129,245,654 (GRCm39) T140S possibly damaging Het
Pcbp2 T A 15: 102,381,782 (GRCm39) V5E probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pgghg A T 7: 140,522,953 (GRCm39) Y104F probably benign Het
Plscr2 T C 9: 92,173,193 (GRCm39) probably null Het
Ppfibp1 C T 6: 146,879,551 (GRCm39) A25V probably damaging Het
Ptgfr C T 3: 151,541,034 (GRCm39) G158D probably benign Het
Ptgs2 T C 1: 149,978,446 (GRCm39) F186S probably damaging Het
Ptpn14 A G 1: 189,564,956 (GRCm39) E181G probably benign Het
Rpgrip1 A G 14: 52,368,673 (GRCm39) K291E possibly damaging Het
Rtn4rl1 T C 11: 75,085,122 (GRCm39) probably null Het
Sema3b T A 9: 107,478,141 (GRCm39) M415L probably benign Het
Sh3bp4 A G 1: 89,073,216 (GRCm39) E688G probably damaging Het
Slco6c1 G A 1: 97,055,887 (GRCm39) R5C possibly damaging Het
Slmap A G 14: 26,181,227 (GRCm39) F369L possibly damaging Het
Sphk2 T C 7: 45,361,894 (GRCm39) N181S possibly damaging Het
Sqor A G 2: 122,641,730 (GRCm39) T235A probably benign Het
St13 A G 15: 81,273,854 (GRCm39) L80P probably damaging Het
St3gal6 A G 16: 58,314,074 (GRCm39) Y20H probably benign Het
Sun1 T G 5: 139,234,239 (GRCm39) Y899D probably damaging Het
Synm C T 7: 67,385,128 (GRCm39) E845K possibly damaging Het
Tg A T 15: 66,566,633 (GRCm39) D1227V possibly damaging Het
Thbs1 A G 2: 117,945,438 (GRCm39) N306D possibly damaging Het
Tmcc3 A T 10: 94,414,357 (GRCm39) N51Y possibly damaging Het
Usp4 A G 9: 108,265,505 (GRCm39) D856G probably benign Het
Vil1 G A 1: 74,457,603 (GRCm39) A79T probably damaging Het
Vmn1r119 T A 7: 20,746,271 (GRCm39) H37L probably damaging Het
Vmn2r110 A T 17: 20,816,316 (GRCm39) M69K probably benign Het
Ywhaq A G 12: 21,444,982 (GRCm39) L221P probably damaging Het
Zfp142 G A 1: 74,609,167 (GRCm39) Q1543* probably null Het
Zfp384 T A 6: 125,001,793 (GRCm39) M146K possibly damaging Het
Other mutations in Ccdc83
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Ccdc83 APN 7 89,893,252 (GRCm39) missense probably damaging 1.00
IGL01092:Ccdc83 APN 7 89,896,313 (GRCm39) missense probably benign 0.11
IGL01394:Ccdc83 APN 7 89,873,209 (GRCm39) missense probably damaging 1.00
IGL02585:Ccdc83 APN 7 89,886,120 (GRCm39) missense probably damaging 1.00
IGL02631:Ccdc83 APN 7 89,893,277 (GRCm39) missense possibly damaging 0.76
G1patch:Ccdc83 UTSW 7 89,896,261 (GRCm39) missense probably damaging 1.00
PIT4354001:Ccdc83 UTSW 7 89,873,182 (GRCm39) missense probably benign 0.21
R0189:Ccdc83 UTSW 7 89,875,891 (GRCm39) missense possibly damaging 0.94
R0538:Ccdc83 UTSW 7 89,877,591 (GRCm39) missense probably damaging 0.99
R1441:Ccdc83 UTSW 7 89,893,351 (GRCm39) missense probably damaging 1.00
R1478:Ccdc83 UTSW 7 89,908,677 (GRCm39) missense probably damaging 0.99
R1781:Ccdc83 UTSW 7 89,899,749 (GRCm39) missense probably damaging 1.00
R1929:Ccdc83 UTSW 7 89,873,285 (GRCm39) missense probably damaging 1.00
R1969:Ccdc83 UTSW 7 89,893,362 (GRCm39) missense probably damaging 1.00
R1970:Ccdc83 UTSW 7 89,893,362 (GRCm39) missense probably damaging 1.00
R1971:Ccdc83 UTSW 7 89,893,362 (GRCm39) missense probably damaging 1.00
R2008:Ccdc83 UTSW 7 89,893,349 (GRCm39) missense probably damaging 1.00
R2220:Ccdc83 UTSW 7 89,908,722 (GRCm39) missense probably damaging 0.96
R2271:Ccdc83 UTSW 7 89,873,285 (GRCm39) missense probably damaging 1.00
R2426:Ccdc83 UTSW 7 89,877,639 (GRCm39) missense probably damaging 1.00
R2985:Ccdc83 UTSW 7 89,885,575 (GRCm39) intron probably benign
R3712:Ccdc83 UTSW 7 89,885,563 (GRCm39) intron probably benign
R4241:Ccdc83 UTSW 7 89,896,346 (GRCm39) missense probably damaging 1.00
R4260:Ccdc83 UTSW 7 89,877,599 (GRCm39) missense possibly damaging 0.86
R4374:Ccdc83 UTSW 7 89,875,986 (GRCm39) nonsense probably null
R5071:Ccdc83 UTSW 7 89,899,737 (GRCm39) missense probably damaging 0.99
R5072:Ccdc83 UTSW 7 89,899,737 (GRCm39) missense probably damaging 0.99
R5074:Ccdc83 UTSW 7 89,899,737 (GRCm39) missense probably damaging 0.99
R5749:Ccdc83 UTSW 7 89,873,156 (GRCm39) missense probably damaging 1.00
R5929:Ccdc83 UTSW 7 89,885,524 (GRCm39) intron probably benign
R6283:Ccdc83 UTSW 7 89,885,615 (GRCm39) nonsense probably null
R6574:Ccdc83 UTSW 7 89,875,885 (GRCm39) missense possibly damaging 0.69
R6725:Ccdc83 UTSW 7 89,896,261 (GRCm39) missense probably damaging 1.00
R7485:Ccdc83 UTSW 7 89,873,138 (GRCm39) missense probably benign 0.17
R7511:Ccdc83 UTSW 7 89,886,130 (GRCm39) missense possibly damaging 0.69
R7750:Ccdc83 UTSW 7 89,873,190 (GRCm39) nonsense probably null
R7773:Ccdc83 UTSW 7 89,879,120 (GRCm39) missense probably damaging 1.00
R7915:Ccdc83 UTSW 7 89,893,290 (GRCm39) nonsense probably null
R8184:Ccdc83 UTSW 7 89,873,286 (GRCm39) nonsense probably null
R8416:Ccdc83 UTSW 7 89,885,513 (GRCm39) missense unknown
R9182:Ccdc83 UTSW 7 89,886,102 (GRCm39) missense probably damaging 1.00
X0067:Ccdc83 UTSW 7 89,896,363 (GRCm39) missense possibly damaging 0.94
Z1088:Ccdc83 UTSW 7 89,893,254 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAACTTGGGCCGTTTAATTCTC -3'
(R):5'- GATCTGTCTACTATAGCCCTCAGG -3'

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