Incidental Mutation 'R5339:Ccdc50'
ID423720
Institutional Source Beutler Lab
Gene Symbol Ccdc50
Ensembl Gene ENSMUSG00000038127
Gene Namecoiled-coil domain containing 50
SynonymsD16Bwg1543e, 5730448P06Rik, 2610529H08Rik
MMRRC Submission 042918-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5339 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location27388869-27452218 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 27417305 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 130 (H130Y)
Ref Sequence ENSEMBL: ENSMUSP00000097604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039443] [ENSMUST00000096127] [ENSMUST00000100026]
Predicted Effect probably damaging
Transcript: ENSMUST00000039443
AA Change: H130Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038509
Gene: ENSMUSG00000038127
AA Change: H130Y

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: H130Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093841
Gene: ENSMUSG00000038127
AA Change: H130Y

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: H130Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097604
Gene: ENSMUSG00000038127
AA Change: H130Y

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
Predicted Effect unknown
Transcript: ENSMUST00000143823
AA Change: H131Y
SMART Domains Protein: ENSMUSP00000118633
Gene: ENSMUSG00000038127
AA Change: H131Y

DomainStartEndE-ValueType
Pfam:CCDC50_N 16 130 4.7e-44 PFAM
low complexity region 213 227 N/A INTRINSIC
low complexity region 240 251 N/A INTRINSIC
Meta Mutation Damage Score 0.0833 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (57/59)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb C T 10: 10,442,606 G158E probably damaging Het
Adgrl2 C T 3: 148,817,844 R1256H probably benign Het
C3 C A 17: 57,224,308 V329F probably damaging Het
Chrna7 A G 7: 63,099,307 S476P probably damaging Het
Crtc1 A T 8: 70,397,733 probably benign Het
Dnah12 A G 14: 26,814,537 T2137A possibly damaging Het
Ehd3 G A 17: 73,828,207 M359I possibly damaging Het
Fastkd3 G A 13: 68,590,164 G611R probably damaging Het
Foxa2 T A 2: 148,044,434 S154C probably damaging Het
Gfm2 T C 13: 97,175,040 I733T probably benign Het
Gm1968 T C 16: 29,962,259 noncoding transcript Het
Gmfg-ps T C 6: 4,893,401 noncoding transcript Het
Gzmd A T 14: 56,130,683 N106K possibly damaging Het
Huwe1 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA X: 151,907,048 probably benign Het
Ipo5 T C 14: 120,943,710 W883R probably damaging Het
Itpr1 T A 6: 108,393,961 V1063D probably damaging Het
Kansl3 A C 1: 36,367,721 probably benign Het
Klkb1 C A 8: 45,270,711 V556F possibly damaging Het
Krtap14 C A 16: 88,825,859 R77S probably benign Het
Leng8 T A 7: 4,145,286 Y686N possibly damaging Het
Mctp1 C A 13: 76,825,706 probably benign Het
Moxd2 T C 6: 40,885,420 Y155C probably damaging Het
Ofcc1 A G 13: 40,087,845 V729A probably benign Het
Olfr1361 G A 13: 21,659,234 L30F probably benign Het
Olfr728 C A 14: 50,140,302 M112I probably damaging Het
Olfr845 G A 9: 19,339,159 G233E possibly damaging Het
Olfr948 A T 9: 39,319,303 F104I possibly damaging Het
Olfr970 T A 9: 39,819,933 M98K probably damaging Het
Pdia4 C T 6: 47,796,685 A577T possibly damaging Het
Pex5 A T 6: 124,398,004 S629T probably benign Het
Pnpla7 T C 2: 25,002,937 S146P probably benign Het
Prune2 G A 19: 17,120,872 E1247K probably damaging Het
Reg3a A G 6: 78,383,539 probably null Het
Snx8 G A 5: 140,358,150 R78C probably damaging Het
Sstr5 T C 17: 25,491,199 E352G probably benign Het
Svep1 T C 4: 58,121,892 Y767C possibly damaging Het
Tbx15 G A 3: 99,316,284 V263M possibly damaging Het
Tdrd9 T C 12: 112,027,122 Y695H probably damaging Het
Tep1 A T 14: 50,844,574 L1174Q probably damaging Het
Tg T A 15: 66,678,093 Y235N probably damaging Het
Tha1 C A 11: 117,871,082 R111L possibly damaging Het
Trim17 C T 11: 58,954,510 probably null Het
Trim72 A G 7: 128,010,333 T436A probably benign Het
Uba7 C T 9: 107,978,866 A480V probably damaging Het
Ublcp1 A T 11: 44,455,608 S313T probably benign Het
Ubqlnl A G 7: 104,149,765 V175A probably benign Het
Vps26a A G 10: 62,458,967 L276P probably damaging Het
Zdhhc21 C T 4: 82,838,313 G110S probably damaging Het
Zfp236 T C 18: 82,624,366 E1133G probably damaging Het
Zfp800 A T 6: 28,256,473 S39T probably damaging Het
Other mutations in Ccdc50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Ccdc50 APN 16 27409352 missense probably damaging 1.00
IGL02725:Ccdc50 APN 16 27436597 missense probably benign 0.38
IGL02742:Ccdc50 APN 16 27406784 splice site probably benign
R0310:Ccdc50 UTSW 16 27406658 missense probably damaging 1.00
R0582:Ccdc50 UTSW 16 27444659 splice site probably benign
R1993:Ccdc50 UTSW 16 27409339 nonsense probably null
R2844:Ccdc50 UTSW 16 27406729 missense probably damaging 1.00
R3121:Ccdc50 UTSW 16 27409389 missense possibly damaging 0.89
R3923:Ccdc50 UTSW 16 27444544 missense probably damaging 1.00
R4624:Ccdc50 UTSW 16 27436601 missense probably null 0.77
R5057:Ccdc50 UTSW 16 27438342 missense probably benign 0.00
R7673:Ccdc50 UTSW 16 27406675 missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- GCCAAGCATCTGAATAACATTTGC -3'
(R):5'- ATCTAAACTGTACTCAGGGCCTG -3'

Sequencing Primer
(F):5'- GCATCTGAATAACATTTGCTGAGTGC -3'
(R):5'- GGCCTGAGGATAAGAGATATGTC -3'
Posted On2016-08-04