Incidental Mutation 'R5204:Ccdc57'
ID 478119
Institutional Source Beutler Lab
Gene Symbol Ccdc57
Ensembl Gene ENSMUSG00000048445
Gene Name coiled-coil domain containing 57
Synonyms 4933434G05Rik
MMRRC Submission 042779-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5204 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 120717355-120823698 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120776888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 504 (V504A)
Ref Sequence ENSEMBL: ENSMUSP00000050996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056781]
AlphaFold Q6PHN1
Predicted Effect possibly damaging
Transcript: ENSMUST00000056781
AA Change: V504A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445
AA Change: V504A

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: ENSMUST00000143895
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 A T 11: 101,297,752 (GRCm39) L532Q probably damaging Het
Abt1 G A 13: 23,606,838 (GRCm39) R88C probably damaging Het
Aopep G A 13: 63,180,904 (GRCm39) V289I probably benign Het
Arhgef7 T A 8: 11,850,775 (GRCm39) L129* probably null Het
Arid1b T C 17: 5,393,316 (GRCm39) V2282A probably damaging Het
Bivm G C 1: 44,177,738 (GRCm39) G346A probably damaging Het
Cav1 T C 6: 17,339,254 (GRCm39) L102P probably damaging Het
Cd7 A T 11: 120,928,860 (GRCm39) probably null Het
Cdh3 T C 8: 107,270,871 (GRCm39) V508A probably benign Het
Chrd A T 16: 20,554,822 (GRCm39) I413F probably benign Het
Clec4b1 T A 6: 123,048,494 (GRCm39) *210R probably null Het
Clock A T 5: 76,391,017 (GRCm39) probably null Het
Col4a2 T A 8: 11,448,651 (GRCm39) probably null Het
Gpx7 T C 4: 108,260,512 (GRCm39) T95A probably benign Het
Hivep3 T A 4: 119,961,053 (GRCm39) probably null Het
Hrc A G 7: 44,985,128 (GRCm39) Y93C possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Klhl5 G T 5: 65,288,781 (GRCm39) L14F possibly damaging Het
Mcm6 A G 1: 128,261,375 (GRCm39) L743P probably benign Het
Nrxn1 A T 17: 90,469,792 (GRCm39) F57Y probably damaging Het
Or51af1 C T 7: 103,141,747 (GRCm39) V113M probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh20 G T 14: 88,706,351 (GRCm39) D316E probably damaging Het
Pcdhb12 T A 18: 37,569,142 (GRCm39) V96E probably damaging Het
Pi4ka A T 16: 17,176,909 (GRCm39) L346M possibly damaging Het
Pkhd1l1 A C 15: 44,410,437 (GRCm39) N2648T possibly damaging Het
Rufy1 C T 11: 50,297,261 (GRCm39) R397Q probably damaging Het
Sema5a G T 15: 32,686,793 (GRCm39) M968I probably benign Het
Slc33a1 A G 3: 63,871,167 (GRCm39) Y149H probably damaging Het
Tln2 T A 9: 67,261,764 (GRCm39) R658S probably benign Het
Tmem30c T C 16: 57,090,385 (GRCm39) N274S possibly damaging Het
Tor3a A G 1: 156,483,270 (GRCm39) L384P probably damaging Het
Trpm3 T A 19: 22,425,705 (GRCm39) L20* probably null Het
Ttn T A 2: 76,560,556 (GRCm39) I20955F probably damaging Het
Usp15 A T 10: 122,949,545 (GRCm39) S908R probably benign Het
Zfp866 A G 8: 70,218,690 (GRCm39) L310P probably 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
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
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'- TTGAACACTCTTCTGGCTGGG -3'
(R):5'- CCCACCTTCGAGAAAGTGTC -3'

Sequencing Primer
(F):5'- CTCTTCTGGCTGGGCAGGG -3'
(R):5'- GGGGTCTCTTTCAAATAAGCAGC -3'
Posted On 2017-05-25