Incidental Mutation 'R3923:Ccdc50'
ID 307063
Institutional Source Beutler Lab
Gene Symbol Ccdc50
Ensembl Gene ENSMUSG00000038127
Gene Name coiled-coil domain containing 50
Synonyms 5730448P06Rik, 2610529H08Rik, D16Bwg1543e
MMRRC Submission 040820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3923 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 27207619-27270968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27263294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 264 (R264S)
Ref Sequence ENSEMBL: ENSMUSP00000097604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039443] [ENSMUST00000096127] [ENSMUST00000100026]
AlphaFold Q810U5
Predicted Effect probably benign
Transcript: ENSMUST00000039443
SMART Domains Protein: ENSMUSP00000038509
Gene: ENSMUSG00000038127

DomainStartEndE-ValueType
Pfam:CCDC50_N 1 131 2e-59 PFAM
low complexity region 211 225 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000096127
AA Change: R249S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093841
Gene: ENSMUSG00000038127
AA Change: R249S

DomainStartEndE-ValueType
Pfam:CCDC50_N 1 131 1.8e-59 PFAM
coiled coil region 183 212 N/A INTRINSIC
low complexity region 223 234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100026
AA Change: R264S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097604
Gene: ENSMUSG00000038127
AA Change: R264S

DomainStartEndE-ValueType
Pfam:CCDC50_N 4 128 1.5e-50 PFAM
low complexity region 211 225 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,180,514 (GRCm39) M528V possibly damaging Het
Ano3 T A 2: 110,601,304 (GRCm39) Y318F probably damaging Het
Asic4 T A 1: 75,427,871 (GRCm39) D132E probably damaging Het
Atp2b2 A G 6: 113,774,069 (GRCm39) probably null Het
Cast T C 13: 74,876,532 (GRCm39) E447G probably damaging Het
Ccdc110 T C 8: 46,395,426 (GRCm39) I439T probably damaging Het
Cdhr18 T A 14: 13,865,990 (GRCm38) K300* probably null Het
Chd9 T A 8: 91,660,147 (GRCm39) V369E probably benign Het
Cnnm1 A G 19: 43,428,884 (GRCm39) M1V probably null Het
Col4a1 T A 8: 11,251,665 (GRCm39) probably benign Het
Crtac1 A G 19: 42,322,386 (GRCm39) V118A probably damaging Het
Ddx59 T A 1: 136,344,482 (GRCm39) V51D probably benign Het
Dipk1c A T 18: 84,748,812 (GRCm39) T137S probably damaging Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Ehmt1 A T 2: 24,774,347 (GRCm39) probably null Het
Emc1 T A 4: 139,090,496 (GRCm39) L412* probably null Het
Ep400 T C 5: 110,904,389 (GRCm39) N70S possibly damaging Het
Ercc6l2 T C 13: 64,018,549 (GRCm39) probably benign Het
Fry T C 5: 150,336,814 (GRCm39) V1395A probably benign Het
Gps1 A G 11: 120,677,259 (GRCm39) N186S possibly damaging Het
Hdgf T A 3: 87,821,535 (GRCm39) D128E probably benign Het
Hipk3 A G 2: 104,301,107 (GRCm39) S362P probably damaging Het
Hypk C A 2: 121,288,683 (GRCm39) H116Q possibly damaging Het
Ifna9 T A 4: 88,510,508 (GRCm39) T39S possibly damaging Het
Itgae A C 11: 73,006,969 (GRCm39) D405A probably damaging Het
Itprid1 T C 6: 55,945,045 (GRCm39) S589P probably benign Het
Kdm5a T C 6: 120,358,625 (GRCm39) S223P probably benign Het
Kif21a C T 15: 90,821,497 (GRCm39) S1432N possibly damaging Het
Klhl1 A T 14: 96,584,316 (GRCm39) C305S possibly damaging Het
Lrrn2 A G 1: 132,866,230 (GRCm39) S432G probably benign Het
Mlana T A 19: 29,682,098 (GRCm39) S50R probably damaging Het
Mycbp2 A T 14: 103,364,149 (GRCm39) H4383Q probably damaging Het
Ncor1 A G 11: 62,216,442 (GRCm39) S1469P probably damaging Het
Nol6 G T 4: 41,121,531 (GRCm39) F270L probably benign Het
Nr2c2 T A 6: 92,137,382 (GRCm39) M431K probably damaging Het
Nrap T C 19: 56,368,688 (GRCm39) I243V probably damaging Het
Obscn T C 11: 58,951,754 (GRCm39) I4297V possibly damaging Het
Onecut2 A G 18: 64,474,591 (GRCm39) K381E probably damaging Het
Or52n1 T A 7: 104,383,396 (GRCm39) E58D probably benign Het
Or8k23 T C 2: 86,186,205 (GRCm39) I174V probably benign Het
Palb2 A T 7: 121,716,583 (GRCm39) probably null Het
Plod1 T C 4: 148,000,280 (GRCm39) K260E possibly damaging Het
Rgsl1 T C 1: 153,679,876 (GRCm39) probably null Het
Rpe65 T A 3: 159,310,037 (GRCm39) F103L probably benign Het
Ryr3 C T 2: 112,672,218 (GRCm39) A1438T possibly damaging Het
Slc17a3 G A 13: 24,042,037 (GRCm39) V402M possibly damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Snph C T 2: 151,435,431 (GRCm39) C430Y probably damaging Het
Tarbp1 T C 8: 127,167,510 (GRCm39) I1101V probably benign Het
Tatdn1 G A 15: 58,793,020 (GRCm39) L120F possibly damaging Het
Trav3-3 A G 14: 53,903,828 (GRCm39) K49E probably benign Het
Trpv5 T C 6: 41,630,183 (GRCm39) T636A probably benign Het
Ube2l6 A G 2: 84,639,418 (GRCm39) D127G possibly damaging Het
Usp33 T A 3: 152,080,428 (GRCm39) probably null Het
Usp53 A T 3: 122,727,954 (GRCm39) F876Y probably benign Het
Utrn A T 10: 12,615,223 (GRCm39) I316K probably benign Het
Zfp106 G T 2: 120,365,337 (GRCm39) Q357K probably damaging Het
Zfp143 T C 7: 109,673,398 (GRCm39) V138A probably damaging Het
Zfp451 T C 1: 33,818,126 (GRCm39) R118G probably null Het
Other mutations in Ccdc50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Ccdc50 APN 16 27,228,102 (GRCm39) missense probably damaging 1.00
IGL02725:Ccdc50 APN 16 27,255,347 (GRCm39) missense probably benign 0.38
IGL02742:Ccdc50 APN 16 27,225,534 (GRCm39) splice site probably benign
R0310:Ccdc50 UTSW 16 27,225,408 (GRCm39) missense probably damaging 1.00
R0582:Ccdc50 UTSW 16 27,263,409 (GRCm39) splice site probably benign
R1993:Ccdc50 UTSW 16 27,228,089 (GRCm39) nonsense probably null
R2844:Ccdc50 UTSW 16 27,225,479 (GRCm39) missense probably damaging 1.00
R3121:Ccdc50 UTSW 16 27,228,139 (GRCm39) missense possibly damaging 0.89
R4624:Ccdc50 UTSW 16 27,255,351 (GRCm39) missense probably null 0.77
R5057:Ccdc50 UTSW 16 27,257,092 (GRCm39) missense probably benign 0.00
R5339:Ccdc50 UTSW 16 27,236,055 (GRCm39) missense probably damaging 0.99
R7673:Ccdc50 UTSW 16 27,225,425 (GRCm39) missense possibly damaging 0.84
R8355:Ccdc50 UTSW 16 27,236,101 (GRCm39) missense probably benign 0.04
R8744:Ccdc50 UTSW 16 27,255,148 (GRCm39) missense possibly damaging 0.92
R9013:Ccdc50 UTSW 16 27,228,106 (GRCm39) missense probably damaging 1.00
R9267:Ccdc50 UTSW 16 27,208,700 (GRCm39) missense
R9640:Ccdc50 UTSW 16 27,225,461 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGAGACTTAGACACATCAAGACTAG -3'
(R):5'- TCTTGTGTTTAATACCCGCTGG -3'

Sequencing Primer
(F):5'- ACAGGAGGTCTTTTGCTG -3'
(R):5'- GCAACAGATGGCTTACTTTTTCCAC -3'
Posted On 2015-04-17