Incidental Mutation 'R1993:Ccdc50'
ID223998
Institutional Source Beutler Lab
Gene Symbol Ccdc50
Ensembl Gene ENSMUSG00000038127
Gene Namecoiled-coil domain containing 50
SynonymsD16Bwg1543e, 5730448P06Rik, 2610529H08Rik
MMRRC Submission 040004-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1993 (G1)
Quality Score225
Status Not validated
Chromosome16
Chromosomal Location27388869-27452218 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 27409339 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 86 (C86*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039443] [ENSMUST00000096127] [ENSMUST00000100026]
Predicted Effect probably null
Transcript: ENSMUST00000039443
AA Change: C85*
SMART Domains Protein: ENSMUSP00000038509
Gene: ENSMUSG00000038127
AA Change: C85*

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 null
Transcript: ENSMUST00000096127
AA Change: C85*
SMART Domains Protein: ENSMUSP00000093841
Gene: ENSMUSG00000038127
AA Change: C85*

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 null
Transcript: ENSMUST00000100026
AA Change: C85*
SMART Domains Protein: ENSMUSP00000097604
Gene: ENSMUSG00000038127
AA Change: C85*

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 probably null
Transcript: ENSMUST00000143823
AA Change: C86*
SMART Domains Protein: ENSMUSP00000118633
Gene: ENSMUSG00000038127
AA Change: C86*

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T G 5: 8,821,322 I292S possibly damaging Het
Abcc4 T C 14: 118,526,282 N1047S probably benign Het
Abcc8 G T 7: 46,117,423 probably null Het
Akap9 T A 5: 4,038,520 probably null Het
Alox5 T A 6: 116,415,463 I366F probably damaging Het
Amn A G 12: 111,276,092 N447S probably damaging Het
Ankrd22 A T 19: 34,165,774 M1K probably null Het
Asic1 G T 15: 99,671,884 G29C probably damaging Het
Atxn7l1 A G 12: 33,345,977 N235S probably benign Het
AY358078 T A 14: 51,826,062 D388E probably damaging Het
Bod1l A G 5: 41,817,336 S2212P probably damaging Het
Cacna1e T A 1: 154,477,817 Q423L probably damaging Het
Calu T C 6: 29,366,975 I62T possibly damaging Het
Cars2 A G 8: 11,514,515 V75A probably benign Het
Catsperb T A 12: 101,602,767 N899K possibly damaging Het
Cdh5 G T 8: 104,137,815 L469F probably damaging Het
Clrn3 A T 7: 135,514,119 D167E probably benign Het
Csmd1 A T 8: 16,346,684 C411S probably damaging Het
Dchs1 A T 7: 105,762,548 S1454T probably benign Het
Ddx20 G A 3: 105,679,344 Q562* probably null Het
Dgkg T G 16: 22,600,594 Y52S probably damaging Het
Dhx58 T C 11: 100,703,490 probably null Het
Dpp6 A T 5: 27,399,006 I145L probably benign Het
Efna2 A T 10: 80,186,877 Y85F possibly damaging Het
Eif3a C T 19: 60,781,516 V127I probably benign Het
Exph5 A T 9: 53,373,635 H672L possibly damaging Het
Fam131b T C 6: 42,320,884 T112A possibly damaging Het
Fam71e2 A T 7: 4,758,018 V565E probably damaging Het
Fcgr1 A T 3: 96,285,868 V271E probably damaging Het
Fgfr4 A G 13: 55,165,902 D508G probably damaging Het
Fndc3b A G 3: 27,419,400 M1172T probably benign Het
Fryl G T 5: 73,108,493 T495K probably damaging Het
Gm5134 A T 10: 75,966,393 I93F probably damaging Het
Gpbar1 G A 1: 74,279,444 G282D possibly damaging Het
Gria2 G A 3: 80,802,357 L10F probably benign Het
Grm7 T C 6: 111,207,808 Y367H probably benign Het
Hils1 T A 11: 94,968,032 V51E probably damaging Het
Hivep1 G A 13: 42,157,493 A1070T probably benign Het
Il33 A G 19: 29,956,904 D155G possibly damaging Het
Kdm6b T C 11: 69,406,303 S408G probably null Het
Kntc1 G A 5: 123,759,099 probably null Het
Kntc1 A G 5: 123,810,811 probably null Het
Ltbp2 T G 12: 84,808,446 probably null Het
Mapk8ip3 G T 17: 24,914,588 L83I probably damaging Het
Meltf C A 16: 31,892,622 Y554* probably null Het
Mov10 A C 3: 104,799,419 F725C probably damaging Het
Ms4a6d A C 19: 11,590,159 L18R probably damaging Het
Naip2 T C 13: 100,162,007 N507S probably benign Het
Nodal A G 10: 61,418,334 Q12R probably benign Het
Npy6r T C 18: 44,276,508 L332P probably damaging Het
Nrxn3 A G 12: 89,260,411 K272R possibly damaging Het
Obox2 G T 7: 15,397,249 K93N probably benign Het
Olfr1136 C T 2: 87,693,433 V150M probably benign Het
Olfr1408 C T 1: 173,130,851 R122H possibly damaging Het
Olfr1466 A G 19: 13,341,814 T19A possibly damaging Het
Olfr575 G T 7: 102,954,746 P285Q probably damaging Het
Pcdh12 T A 18: 38,282,143 D643V possibly damaging Het
Pcsk2 A G 2: 143,687,619 D112G probably benign Het
Pms1 A G 1: 53,195,015 S781P probably benign Het
Prtg A G 9: 72,844,896 D188G probably benign Het
Psg21 A T 7: 18,654,770 N132K probably benign Het
Psip1 A G 4: 83,482,532 V25A probably damaging Het
Psmd13 T A 7: 140,898,194 I319N probably damaging Het
Ptges2 A G 2: 32,400,092 T173A probably benign Het
Ptprm G A 17: 66,747,160 R975W probably damaging Het
Rdh1 A G 10: 127,765,345 D254G probably benign Het
Rnf138 T G 18: 21,024,483 N212K probably damaging Het
Serpine2 A G 1: 79,821,442 S32P probably damaging Het
Serpini1 G T 3: 75,614,664 W154L probably damaging Het
Sf3a1 C A 11: 4,179,177 Q713K possibly damaging Het
Sgo2b A T 8: 63,926,833 H988Q probably benign Het
Sin3a T C 9: 57,101,199 F468L probably damaging Het
Slamf6 A T 1: 171,934,209 I66F possibly damaging Het
Slc22a28 A T 19: 8,117,124 C178S possibly damaging Het
Slc35a1 A C 4: 34,675,181 V119G probably damaging Het
Slc39a12 A T 2: 14,434,219 H428L probably damaging Het
Speer2 A G 16: 69,858,077 S167P probably benign Het
Sphkap G A 1: 83,277,515 R838* probably null Het
Spsb2 T C 6: 124,809,366 probably null Het
Stam2 A T 2: 52,703,156 Y341* probably null Het
Sv2b G A 7: 75,206,341 A67V probably benign Het
Svep1 A G 4: 58,064,170 probably null Het
Syt15 A T 14: 34,223,012 Q172L probably benign Het
T G A 17: 8,441,802 S415N probably benign Het
Tep1 A G 14: 50,824,184 F2625S possibly damaging Het
Tex14 T C 11: 87,536,755 V11A possibly damaging Het
Tiam2 A T 17: 3,415,126 R377* probably null Het
Tirap A G 9: 35,191,016 probably null Het
Tm4sf20 T C 1: 82,760,217 T118A probably benign Het
Trank1 A T 9: 111,378,832 Q1715L probably benign Het
Trpm2 C T 10: 77,947,989 V217M probably damaging Het
Ubap1l G A 9: 65,371,796 E126K possibly damaging Het
Urgcp G T 11: 5,716,526 P604Q probably damaging Het
Vmn1r63 A G 7: 5,803,255 V126A probably benign Het
Vmn2r90 T C 17: 17,713,263 C362R probably damaging Het
Vmn2r96 A G 17: 18,583,876 I271V probably damaging Het
Vps13a A T 19: 16,722,458 I740K probably benign Het
Vps13c A G 9: 67,975,856 T3562A probably damaging Het
Wdr91 T A 6: 34,892,362 H409L probably damaging Het
Wnt7a T A 6: 91,365,956 T315S possibly damaging Het
Zfp616 A G 11: 74,084,969 H688R probably benign Het
Zfp763 A T 17: 33,018,439 H577Q probably damaging Het
Zfp808 G A 13: 62,172,907 S650N probably benign Het
Zfp977 A T 7: 42,579,985 M372K probably benign 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
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
R5339:Ccdc50 UTSW 16 27417305 missense probably damaging 0.99
R7673:Ccdc50 UTSW 16 27406675 missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- CAGTGTCTGAAGGAGATGCCAG -3'
(R):5'- TCGCCTGAACTCCAGATGAG -3'

Sequencing Primer
(F):5'- CTGAAGGAGATGCCAGTTTTCCAATG -3'
(R):5'- TCCAGATGAGGAGTCCTGCTG -3'
Posted On2014-08-25