Incidental Mutation 'IGL03117:Ccdc129'
ID419468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc129
Ensembl Gene ENSMUSG00000037973
Gene Namecoiled-coil domain containing 129
SynonymsD530004J12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.023) question?
Stock #IGL03117
Quality Score
Status
Chromosome6
Chromosomal Location55836895-55978735 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55898129 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 355 (T355A)
Ref Sequence ENSEMBL: ENSMUSP00000045332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044729]
Predicted Effect probably benign
Transcript: ENSMUST00000044729
AA Change: T355A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: T355A

DomainStartEndE-ValueType
KRAP_IP3R_bind 112 264 2.99e-82 SMART
low complexity region 326 334 N/A INTRINSIC
low complexity region 432 442 N/A INTRINSIC
low complexity region 477 496 N/A INTRINSIC
low complexity region 498 511 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
Pfam:SSFA2_C 806 916 3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169699
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d3 A G 14: 29,467,952 L109P probably damaging Het
Caprin2 A T 6: 148,862,466 S568T possibly damaging Het
Catip A G 1: 74,364,585 T154A probably null Het
Ccdc187 A G 2: 26,287,968 S270P possibly damaging Het
Ccdc88a A G 11: 29,374,559 Y39C probably damaging Het
Chrdl2 A T 7: 100,027,580 H203L possibly damaging Het
Chrnb2 A G 3: 89,763,245 V62A probably damaging Het
Cklf T A 8: 104,257,423 S73T possibly damaging Het
Clk1 A G 1: 58,417,007 probably null Het
Ctdp1 T C 18: 80,449,501 D593G probably damaging Het
Ctsc A T 7: 88,309,780 I423F probably damaging Het
D130043K22Rik T A 13: 24,889,842 V968E probably damaging Het
Dennd4c A G 4: 86,777,903 S166G possibly damaging Het
Dnah2 G T 11: 69,436,291 probably benign Het
Dnajb11 G T 16: 22,869,138 R206L probably benign Het
Dsel A T 1: 111,859,178 probably benign Het
Ehd2 T C 7: 15,950,471 S468G possibly damaging Het
Ehmt2 T A 17: 34,906,811 V640E possibly damaging Het
Elmo2 T A 2: 165,298,653 E299D probably benign Het
Eps8l1 T C 7: 4,470,887 L231P probably damaging Het
Esd A G 14: 74,741,246 T83A probably damaging Het
Flt3 A G 5: 147,356,210 F529L probably benign Het
Hnrnpu G A 1: 178,330,774 probably benign Het
Hpx G T 7: 105,600,071 A7E possibly damaging Het
Ighv6-5 C T 12: 114,416,700 V85M possibly damaging Het
Itpr3 G A 17: 27,119,266 V2503I probably damaging Het
Matr3 G T 18: 35,572,657 G212C probably damaging Het
Mrpl35 A T 6: 71,816,279 Y129* probably null Het
Myh2 T C 11: 67,180,884 I509T possibly damaging Het
Nat8l G T 5: 34,000,944 A233S probably damaging Het
Nipbl A C 15: 8,332,452 L1447W probably damaging Het
Paf1 T A 7: 28,395,056 C31S possibly damaging Het
Parp4 A C 14: 56,602,856 T573P probably benign Het
Phf12 A T 11: 78,023,020 probably benign Het
Pi4k2b A G 5: 52,748,423 E102G probably benign Het
Pou2f1 A G 1: 165,934,813 C7R probably benign Het
Prpsap2 T C 11: 61,740,989 R181G probably benign Het
Psd A G 19: 46,323,122 probably benign Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rab21 A T 10: 115,315,192 probably null Het
Relb T C 7: 19,612,657 D330G probably damaging Het
Rhoc A T 3: 104,792,920 T100S probably benign Het
Ryr1 G T 7: 29,102,964 H744N probably damaging Het
Sardh C T 2: 27,239,446 G280D probably damaging Het
Scyl2 A C 10: 89,657,867 N346K possibly damaging Het
Sec16b T C 1: 157,535,400 F267S probably damaging Het
Slc44a5 T A 3: 154,251,077 M322K probably benign Het
St8sia4 T A 1: 95,591,783 N327Y probably benign Het
Tbl1xr1 T A 3: 22,203,159 Y395* probably null Het
Unc13c A T 9: 73,534,025 S1897R probably benign Het
Vangl2 A G 1: 172,012,848 S58P probably damaging Het
Vmn1r17 A G 6: 57,360,516 I288T probably benign Het
Vmn1r236 A G 17: 21,287,246 I209V probably benign Het
Zfp809 A G 9: 22,238,654 Y149C probably damaging Het
Other mutations in Ccdc129
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Ccdc129 APN 6 55968037 missense possibly damaging 0.90
IGL01317:Ccdc129 APN 6 55967805 missense possibly damaging 0.77
IGL01390:Ccdc129 APN 6 55897998 missense probably benign 0.41
IGL01696:Ccdc129 APN 6 55897695 missense probably benign 0.40
IGL01941:Ccdc129 APN 6 55968045 missense probably benign
IGL01967:Ccdc129 APN 6 55897911 missense probably damaging 0.99
IGL02071:Ccdc129 APN 6 55967725 nonsense probably null
IGL02232:Ccdc129 APN 6 55967937 missense unknown
IGL02268:Ccdc129 APN 6 55884688 splice site probably benign
IGL02440:Ccdc129 APN 6 55884728 missense possibly damaging 0.95
IGL02614:Ccdc129 APN 6 55968277 missense probably damaging 0.99
IGL02626:Ccdc129 APN 6 55968646 missense probably benign 0.03
IGL02674:Ccdc129 APN 6 55897928 missense probably benign 0.04
IGL02836:Ccdc129 APN 6 55898090 missense probably damaging 1.00
IGL02884:Ccdc129 APN 6 55874354 splice site probably null
IGL02889:Ccdc129 APN 6 55901458 missense possibly damaging 0.46
IGL03103:Ccdc129 APN 6 55968159 missense possibly damaging 0.59
IGL03343:Ccdc129 APN 6 55968584 missense probably damaging 1.00
R0054:Ccdc129 UTSW 6 55872472 utr 5 prime probably benign
R0200:Ccdc129 UTSW 6 55897956 missense probably benign 0.10
R0245:Ccdc129 UTSW 6 55898007 missense probably damaging 1.00
R0320:Ccdc129 UTSW 6 55976447 missense probably damaging 1.00
R0326:Ccdc129 UTSW 6 55898243 missense possibly damaging 0.61
R0357:Ccdc129 UTSW 6 55968034 missense probably benign 0.13
R1109:Ccdc129 UTSW 6 55968260 missense probably damaging 1.00
R1118:Ccdc129 UTSW 6 55889170 missense probably damaging 1.00
R1119:Ccdc129 UTSW 6 55889170 missense probably damaging 1.00
R1462:Ccdc129 UTSW 6 55975664 missense probably damaging 1.00
R1462:Ccdc129 UTSW 6 55975664 missense probably damaging 1.00
R1588:Ccdc129 UTSW 6 55978503 missense possibly damaging 0.72
R1678:Ccdc129 UTSW 6 55968514 missense probably benign 0.35
R1680:Ccdc129 UTSW 6 55968766 missense probably damaging 1.00
R1728:Ccdc129 UTSW 6 55968541 missense probably benign 0.01
R1729:Ccdc129 UTSW 6 55968541 missense probably benign 0.01
R1737:Ccdc129 UTSW 6 55968304 missense probably damaging 1.00
R1771:Ccdc129 UTSW 6 55898147 missense probably benign 0.40
R1784:Ccdc129 UTSW 6 55968541 missense probably benign 0.01
R1936:Ccdc129 UTSW 6 55897681 missense probably damaging 1.00
R1995:Ccdc129 UTSW 6 55968709 missense probably benign 0.03
R2037:Ccdc129 UTSW 6 55897875 missense probably benign 0.00
R2137:Ccdc129 UTSW 6 55889189 missense probably damaging 1.00
R2190:Ccdc129 UTSW 6 55897700 missense possibly damaging 0.87
R2191:Ccdc129 UTSW 6 55967719 missense probably benign 0.06
R2234:Ccdc129 UTSW 6 55897812 missense possibly damaging 0.67
R2235:Ccdc129 UTSW 6 55897812 missense possibly damaging 0.67
R3793:Ccdc129 UTSW 6 55975603 missense possibly damaging 0.80
R3923:Ccdc129 UTSW 6 55968060 missense probably benign 0.19
R3959:Ccdc129 UTSW 6 55897740 missense probably benign
R4332:Ccdc129 UTSW 6 55968235 missense possibly damaging 0.95
R4485:Ccdc129 UTSW 6 55887066 missense probably benign 0.00
R4688:Ccdc129 UTSW 6 55967147 splice site probably null
R4916:Ccdc129 UTSW 6 55978190 missense possibly damaging 0.77
R5201:Ccdc129 UTSW 6 55968006 missense probably benign 0.03
R5383:Ccdc129 UTSW 6 55978290 missense probably benign 0.38
R5450:Ccdc129 UTSW 6 55968811 critical splice donor site probably null
R5542:Ccdc129 UTSW 6 55978395 missense probably damaging 0.99
R5819:Ccdc129 UTSW 6 55897891 missense probably benign 0.18
R5935:Ccdc129 UTSW 6 55897769 nonsense probably null
R6034:Ccdc129 UTSW 6 55967681 missense possibly damaging 0.94
R6034:Ccdc129 UTSW 6 55967681 missense possibly damaging 0.94
R6209:Ccdc129 UTSW 6 55874321 missense probably damaging 1.00
R6246:Ccdc129 UTSW 6 55967672 missense probably damaging 1.00
R6463:Ccdc129 UTSW 6 55968678 missense probably benign 0.17
R6490:Ccdc129 UTSW 6 55976420 missense probably damaging 1.00
R6948:Ccdc129 UTSW 6 55978485 missense probably benign
Posted On2016-08-02