Incidental Mutation 'IGL01069:Ccdc57'
ID 52218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc57
Ensembl Gene ENSMUSG00000048445
Gene Name coiled-coil domain containing 57
Synonyms 4933434G05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01069
Quality Score
Status
Chromosome 11
Chromosomal Location 120717355-120823698 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120752085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 832 (H832L)
Ref Sequence ENSEMBL: ENSMUSP00000050996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056781]
AlphaFold Q6PHN1
Predicted Effect probably benign
Transcript: ENSMUST00000056781
AA Change: H832L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445
AA Change: H832L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150640
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Ccdc57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ccdc57 APN 11 120,751,295 (GRCm39) missense possibly damaging 0.94
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
R1852:Ccdc57 UTSW 11 120,812,499 (GRCm39) missense probably damaging 0.98
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
Posted On 2013-06-21