Incidental Mutation 'R1852:Ccdc57'
ID 208243
Institutional Source Beutler Lab
Gene Symbol Ccdc57
Ensembl Gene ENSMUSG00000048445
Gene Name coiled-coil domain containing 57
Synonyms 4933434G05Rik
MMRRC Submission 039876-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1852 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 120717355-120823698 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120812499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 85 (E85G)
Ref Sequence ENSEMBL: ENSMUSP00000050996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056781]
AlphaFold Q6PHN1
Predicted Effect probably damaging
Transcript: ENSMUST00000056781
AA Change: E85G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445
AA Change: E85G

DomainStartEndE-ValueType
coiled coil region 14 174 N/A INTRINSIC
coiled coil region 198 350 N/A INTRINSIC
low complexity region 356 365 N/A INTRINSIC
coiled coil region 380 489 N/A INTRINSIC
coiled coil region 519 548 N/A INTRINSIC
coiled coil region 575 607 N/A INTRINSIC
low complexity region 620 639 N/A INTRINSIC
internal_repeat_1 657 677 1.17e-5 PROSPERO
low complexity region 763 774 N/A INTRINSIC
low complexity region 787 798 N/A INTRINSIC
internal_repeat_1 863 883 1.17e-5 PROSPERO
low complexity region 915 923 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,246,629 (GRCm39) probably null Het
4930433I11Rik T A 7: 40,643,037 (GRCm39) D326E probably benign Het
Abca8a T C 11: 109,960,212 (GRCm39) D676G probably damaging Het
Abcb7 T C X: 103,349,005 (GRCm39) M153V probably benign Het
Ablim3 G A 18: 61,982,466 (GRCm39) H160Y probably benign Het
Acsl6 T C 11: 54,251,902 (GRCm39) I683T probably damaging Het
Adgrg5 A T 8: 95,664,428 (GRCm39) Y345F probably damaging Het
Alg6 T G 4: 99,634,599 (GRCm39) F114V probably benign Het
Ank2 A C 3: 126,791,500 (GRCm39) probably null Het
Ankrd24 A T 10: 81,478,775 (GRCm39) probably benign Het
Ano8 T C 8: 71,936,131 (GRCm39) K222E probably damaging Het
Arhgef5 T C 6: 43,252,119 (GRCm39) S957P probably benign Het
Bltp2 A G 11: 78,159,299 (GRCm39) D499G probably damaging Het
Bmpr1b A T 3: 141,563,163 (GRCm39) probably null Het
C3 A G 17: 57,529,823 (GRCm39) V2A probably damaging Het
Capn1 A G 19: 6,059,133 (GRCm39) V276A possibly damaging Het
Chil3 C T 3: 106,056,117 (GRCm39) probably null Het
Chl1 A T 6: 103,676,120 (GRCm39) probably null Het
Chodl C T 16: 78,738,146 (GRCm39) P38L probably benign Het
Clec4a2 G T 6: 123,116,084 (GRCm39) E124* probably null Het
Cmtr1 T C 17: 29,921,229 (GRCm39) V825A probably benign Het
Cnksr3 T C 10: 7,070,539 (GRCm39) I232V probably benign Het
Cntn1 C T 15: 92,203,021 (GRCm39) R768C probably damaging Het
Col15a1 G T 4: 47,299,278 (GRCm39) probably null Het
Col6a3 T A 1: 90,735,256 (GRCm39) I798F possibly damaging Het
Cpxcr1 T A X: 115,387,758 (GRCm39) L223* probably null Het
Cul1 A G 6: 47,497,764 (GRCm39) N615S probably damaging Het
Cxcr2 A G 1: 74,198,438 (GRCm39) I311V probably benign Het
Cyp2c67 C T 19: 39,605,811 (GRCm39) G362S probably benign Het
D930048N14Rik T A 11: 51,544,692 (GRCm39) probably benign Het
Ddx49 T C 8: 70,753,633 (GRCm39) T79A probably damaging Het
Defb46 T A 8: 19,289,991 (GRCm39) probably null Het
Dnah17 T A 11: 118,012,742 (GRCm39) I145F probably damaging Het
Dock8 A T 19: 25,104,492 (GRCm39) I725F probably benign Het
Dppa4 G A 16: 48,108,247 (GRCm39) A11T probably damaging Het
Enam T A 5: 88,652,324 (GRCm39) S1278T possibly damaging Het
Fndc3a A G 14: 72,794,283 (GRCm39) V829A probably damaging Het
Gatb T G 3: 85,526,184 (GRCm39) L354R probably damaging Het
Gm10787 A T 10: 76,857,711 (GRCm39) noncoding transcript Het
Gsap T A 5: 21,495,543 (GRCm39) probably null Het
Gtf2ird1 T C 5: 134,411,434 (GRCm39) probably null Het
Has3 A T 8: 107,600,711 (GRCm39) I58F probably damaging Het
Haus5 A T 7: 30,357,926 (GRCm39) probably null Het
Hip1r T C 5: 124,129,568 (GRCm39) V169A probably benign Het
Hnf1a T A 5: 115,108,770 (GRCm39) D45V probably damaging Het
Il20ra T A 10: 19,618,767 (GRCm39) Y72N probably damaging Het
Ipo11 A T 13: 106,948,765 (GRCm39) V914E possibly damaging Het
Itpr1 T C 6: 108,363,667 (GRCm39) L763P probably damaging Het
Katnal2 C A 18: 77,103,719 (GRCm39) R104L probably benign Het
Kcng4 G T 8: 120,352,947 (GRCm39) P321Q probably benign Het
Larp4b T C 13: 9,187,339 (GRCm39) probably null Het
Lars1 T C 18: 42,345,673 (GRCm39) N1001S probably benign Het
Lhcgr T A 17: 89,072,604 (GRCm39) I148F probably damaging Het
Lsm10 T A 4: 125,991,756 (GRCm39) S37R possibly damaging Het
Mfsd13a A G 19: 46,360,619 (GRCm39) probably null Het
Mipep T A 14: 61,080,689 (GRCm39) C560* probably null Het
Mme G A 3: 63,235,467 (GRCm39) D172N probably benign Het
Mme A G 3: 63,235,404 (GRCm39) S97G probably benign Het
Mtrex A T 13: 113,009,461 (GRCm39) H979Q probably benign Het
Mx1 A T 16: 97,249,403 (GRCm39) L608Q probably damaging Het
Myt1l T C 12: 29,901,660 (GRCm39) M208T probably benign Het
Neb T C 2: 52,118,554 (GRCm39) I3987V probably damaging Het
Nelfcd A G 2: 174,265,771 (GRCm39) probably null Het
Neto1 T C 18: 86,414,009 (GRCm39) M1T probably null Het
Nom1 T C 5: 29,651,876 (GRCm39) F738S possibly damaging Het
Or10v1 C A 19: 11,874,249 (GRCm39) P288H probably damaging Het
Or4f61 C A 2: 111,922,192 (GRCm39) V285L probably benign Het
Or51h5 C T 7: 102,577,648 (GRCm39) S271L probably damaging Het
Or5b123 C T 19: 13,596,967 (GRCm39) S147F probably damaging Het
Or5w14 T C 2: 87,541,317 (GRCm39) probably null Het
Or6c203 T C 10: 129,010,197 (GRCm39) K231R probably benign Het
Or6f2 T A 7: 139,756,474 (GRCm39) L147* probably null Het
Or9m1b T G 2: 87,836,865 (GRCm39) I86L probably damaging Het
Pak1ip1 A G 13: 41,164,708 (GRCm39) T264A possibly damaging Het
Palb2 G T 7: 121,713,537 (GRCm39) D915E possibly damaging Het
Pank4 T C 4: 155,060,816 (GRCm39) L491P probably damaging Het
Paqr7 T C 4: 134,234,980 (GRCm39) V279A probably benign Het
Pcif1 G A 2: 164,730,386 (GRCm39) R373Q probably damaging Het
Pdgfa T A 5: 138,964,927 (GRCm39) N185I probably benign Het
Plcd4 T C 1: 74,588,520 (GRCm39) V123A possibly damaging Het
Pramel26 T C 4: 143,539,396 (GRCm39) I32M probably benign Het
Prune2 A G 19: 17,176,503 (GRCm39) I154V probably damaging Het
Rac3 T G 11: 120,614,320 (GRCm39) L148R possibly damaging Het
Rapgef6 T A 11: 54,533,637 (GRCm39) D362E probably benign Het
Rbl1 A G 2: 157,016,823 (GRCm39) I592T probably benign Het
Rbl2 A C 8: 91,822,191 (GRCm39) D408A possibly damaging Het
Retreg2 A G 1: 75,123,319 (GRCm39) K416E probably benign Het
Rorb A T 19: 18,939,447 (GRCm39) L234H probably damaging Het
Rpp40 T G 13: 36,080,897 (GRCm39) D279A probably benign Het
Siglec1 C A 2: 130,923,420 (GRCm39) V442L probably damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc25a34 G A 4: 141,349,579 (GRCm39) T192I probably benign Het
Sp140l1 G A 1: 85,062,852 (GRCm39) probably benign Het
Sptbn5 T C 2: 119,902,125 (GRCm39) I126M possibly damaging Het
Strada A G 11: 106,062,047 (GRCm39) V94A possibly damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Tgm1 T C 14: 55,942,398 (GRCm39) Y651C probably damaging Het
Tmem200c T A 17: 69,147,612 (GRCm39) V65E probably damaging Het
Tmem74 A T 15: 43,730,559 (GRCm39) D161E probably benign Het
Trgc3 A T 13: 19,445,261 (GRCm39) M70L probably damaging Het
Vcan T G 13: 89,853,511 (GRCm39) E483A probably damaging Het
Vmn2r124 A G 17: 18,283,436 (GRCm39) T377A probably benign Het
Vmn2r3 A C 3: 64,166,815 (GRCm39) I772S probably damaging Het
Wdfy3 A G 5: 102,063,242 (GRCm39) V1342A probably benign Het
Zfp507 T C 7: 35,487,176 (GRCm39) H764R probably damaging Het
Znrf3 A G 11: 5,237,455 (GRCm39) I218T possibly damaging Het
Other mutations in Ccdc57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ccdc57 APN 11 120,751,295 (GRCm39) missense possibly damaging 0.94
IGL01069:Ccdc57 APN 11 120,752,085 (GRCm39) missense probably benign 0.06
IGL02065:Ccdc57 APN 11 120,764,586 (GRCm39) missense possibly damaging 0.85
IGL02143:Ccdc57 APN 11 120,752,069 (GRCm39) nonsense probably null
R0265:Ccdc57 UTSW 11 120,812,637 (GRCm39) missense probably benign 0.00
R1184:Ccdc57 UTSW 11 120,764,637 (GRCm39) splice site probably benign
R1792:Ccdc57 UTSW 11 120,788,707 (GRCm39) missense possibly damaging 0.82
R1834:Ccdc57 UTSW 11 120,752,045 (GRCm39) missense probably benign 0.07
R1914:Ccdc57 UTSW 11 120,794,134 (GRCm39) splice site probably benign
R2146:Ccdc57 UTSW 11 120,776,051 (GRCm39) splice site probably benign
R2341:Ccdc57 UTSW 11 120,751,349 (GRCm39) missense probably benign 0.00
R3013:Ccdc57 UTSW 11 120,752,025 (GRCm39) missense probably benign 0.01
R4798:Ccdc57 UTSW 11 120,772,683 (GRCm39) missense possibly damaging 0.73
R4821:Ccdc57 UTSW 11 120,751,225 (GRCm39) critical splice donor site probably null
R4869:Ccdc57 UTSW 11 120,794,344 (GRCm39) splice site probably null
R4964:Ccdc57 UTSW 11 120,751,978 (GRCm39) missense probably benign 0.17
R4966:Ccdc57 UTSW 11 120,751,978 (GRCm39) missense probably benign 0.17
R5204:Ccdc57 UTSW 11 120,776,888 (GRCm39) missense possibly damaging 0.73
R5993:Ccdc57 UTSW 11 120,785,550 (GRCm39) missense possibly damaging 0.85
R6072:Ccdc57 UTSW 11 120,792,901 (GRCm39) missense probably damaging 0.98
R6404:Ccdc57 UTSW 11 120,785,538 (GRCm39) missense probably benign 0.10
R6877:Ccdc57 UTSW 11 120,764,528 (GRCm39) missense probably benign 0.00
R7074:Ccdc57 UTSW 11 120,794,200 (GRCm39) missense possibly damaging 0.94
R7102:Ccdc57 UTSW 11 120,812,557 (GRCm39) nonsense probably null
R7311:Ccdc57 UTSW 11 120,764,567 (GRCm39) missense probably benign
R8087:Ccdc57 UTSW 11 120,788,705 (GRCm39) missense probably benign
R8111:Ccdc57 UTSW 11 120,769,713 (GRCm39) missense probably damaging 0.99
R8164:Ccdc57 UTSW 11 120,788,788 (GRCm39) missense probably benign 0.00
R8273:Ccdc57 UTSW 11 120,812,599 (GRCm39) missense probably damaging 1.00
R8316:Ccdc57 UTSW 11 120,776,742 (GRCm39) missense probably damaging 0.98
R8323:Ccdc57 UTSW 11 120,788,750 (GRCm39) missense possibly damaging 0.66
R8388:Ccdc57 UTSW 11 120,717,744 (GRCm39) missense probably benign
R8768:Ccdc57 UTSW 11 120,788,788 (GRCm39) missense probably benign 0.00
R8957:Ccdc57 UTSW 11 120,776,861 (GRCm39) missense probably benign
R9245:Ccdc57 UTSW 11 120,812,578 (GRCm39) missense probably damaging 0.99
R9281:Ccdc57 UTSW 11 120,751,413 (GRCm39) missense probably benign 0.19
R9422:Ccdc57 UTSW 11 120,764,444 (GRCm39) missense possibly damaging 0.94
R9704:Ccdc57 UTSW 11 120,764,531 (GRCm39) missense probably damaging 0.98
Z1176:Ccdc57 UTSW 11 120,751,964 (GRCm39) missense probably null
Z1176:Ccdc57 UTSW 11 120,751,314 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- ATGACCTGTAAGGGTAACGCAC -3'
(R):5'- GGGAACTGAATGAGCTTTTGGC -3'

Sequencing Primer
(F):5'- TAACGCACCTGTGGACGC -3'
(R):5'- AGGAATGGCGAGTCCTCCAG -3'
Posted On 2014-06-23