Incidental Mutation 'IGL01111:Ccdc13'
ID51943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc13
Ensembl Gene ENSMUSG00000079235
Gene Namecoiled-coil domain containing 13
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL01111
Quality Score
Status
Chromosome9
Chromosomal Location121797627-121839461 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 121810084 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000135986] [ENSMUST00000142783] [ENSMUST00000155511]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126851
Predicted Effect probably benign
Transcript: ENSMUST00000135986
SMART Domains Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235

DomainStartEndE-ValueType
coiled coil region 19 46 N/A INTRINSIC
coiled coil region 70 103 N/A INTRINSIC
coiled coil region 139 178 N/A INTRINSIC
coiled coil region 206 248 N/A INTRINSIC
low complexity region 293 304 N/A INTRINSIC
coiled coil region 323 370 N/A INTRINSIC
coiled coil region 428 458 N/A INTRINSIC
coiled coil region 550 604 N/A INTRINSIC
coiled coil region 648 670 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140929
Predicted Effect probably benign
Transcript: ENSMUST00000142783
SMART Domains Protein: ENSMUSP00000130887
Gene: ENSMUSG00000079235

DomainStartEndE-ValueType
coiled coil region 68 122 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155511
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik G T 2: 130,736,598 D655E possibly damaging Het
Ammecr1l T A 18: 31,772,070 Y121* probably null Het
Apc C T 18: 34,315,136 T1661I possibly damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpt1c T C 7: 44,965,554 H325R possibly damaging Het
Cyp2a22 T C 7: 26,936,458 K227E probably damaging Het
Ddx10 T C 9: 53,159,948 K682E possibly damaging Het
Dlg2 T C 7: 91,449,763 Y123H possibly damaging Het
Dnah11 A T 12: 118,142,934 probably benign Het
Dpysl2 T C 14: 66,834,232 E153G probably damaging Het
Edrf1 T A 7: 133,658,553 Y64* probably null Het
Ephb2 A T 4: 136,657,410 S897T probably benign Het
Flt1 A G 5: 147,578,336 I1092T probably damaging Het
Gabra4 T C 5: 71,633,629 Y290C probably damaging Het
Gm853 T A 4: 130,221,725 D10V probably benign Het
Hectd2 A T 19: 36,597,120 H67L probably damaging Het
Itgb2 T C 10: 77,542,000 L11P probably damaging Het
Jmy T C 13: 93,441,021 R880G probably damaging Het
Klhl2 A G 8: 64,749,047 C532R probably damaging Het
Kpna1 A G 16: 36,012,889 probably benign Het
L3mbtl2 T C 15: 81,684,898 V591A possibly damaging Het
Lepr A T 4: 101,814,655 N959Y possibly damaging Het
Man1a A T 10: 53,977,013 probably benign Het
Mov10 A T 3: 104,801,405 S431T possibly damaging Het
Mx2 A T 16: 97,558,719 Q563L probably benign Het
Nrap A T 19: 56,345,558 Y874N probably damaging Het
Nup160 T C 2: 90,733,209 I1373T probably benign Het
Nwd2 A T 5: 63,807,300 D1409V probably damaging Het
Obsl1 A T 1: 75,497,145 V744E possibly damaging Het
Olfr630 T A 7: 103,755,373 T71S probably benign Het
Pgap1 T C 1: 54,530,943 K315R probably benign Het
Rab8a T C 8: 72,175,856 V114A probably damaging Het
Sh2d6 T C 6: 72,519,829 T73A probably benign Het
Shroom1 A G 11: 53,464,048 E265G probably damaging Het
Slc8b1 G A 5: 120,532,935 V529M probably damaging Het
Srbd1 G T 17: 86,098,533 A613E probably benign Het
Stat1 G A 1: 52,142,961 probably null Het
Tbck A G 3: 132,694,407 H73R probably damaging Het
Thg1l A T 11: 45,948,224 D220E probably damaging Het
Ttn C T 2: 76,778,323 G16037D probably damaging Het
Unc13b A G 4: 43,096,927 E100G possibly damaging Het
Vmn2r81 T A 10: 79,247,997 D68E probably benign Het
Xpo6 T C 7: 126,129,568 T505A probably benign Het
Zfp976 T C 7: 42,616,287 K25E probably damaging Het
Other mutations in Ccdc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Ccdc13 APN 9 121827363 missense probably benign 0.37
ANU23:Ccdc13 UTSW 9 121827363 missense probably benign 0.37
R0112:Ccdc13 UTSW 9 121813481 missense probably damaging 0.98
R0144:Ccdc13 UTSW 9 121827351 missense probably damaging 0.98
R0360:Ccdc13 UTSW 9 121798216 missense probably damaging 1.00
R0364:Ccdc13 UTSW 9 121798216 missense probably damaging 1.00
R1441:Ccdc13 UTSW 9 121813449 missense probably benign 0.44
R1674:Ccdc13 UTSW 9 121809142 missense probably damaging 1.00
R1691:Ccdc13 UTSW 9 121825068 splice site probably null
R1710:Ccdc13 UTSW 9 121819581 missense probably damaging 1.00
R3821:Ccdc13 UTSW 9 121831019 missense probably damaging 1.00
R3822:Ccdc13 UTSW 9 121831019 missense probably damaging 1.00
R3962:Ccdc13 UTSW 9 121798939 intron probably benign
R4695:Ccdc13 UTSW 9 121820760 missense probably damaging 1.00
R4758:Ccdc13 UTSW 9 121833734 missense possibly damaging 0.91
R5058:Ccdc13 UTSW 9 121817547 intron probably benign
R5283:Ccdc13 UTSW 9 121808188 missense probably damaging 1.00
R5436:Ccdc13 UTSW 9 121799043 missense probably benign 0.06
R5601:Ccdc13 UTSW 9 121800572 nonsense probably null
R5623:Ccdc13 UTSW 9 121833733 missense probably damaging 0.99
R5653:Ccdc13 UTSW 9 121798787 makesense probably null
R5665:Ccdc13 UTSW 9 121814290 missense probably damaging 0.99
R5975:Ccdc13 UTSW 9 121827235 missense probably benign 0.00
R6212:Ccdc13 UTSW 9 121798909 intron probably benign
R6213:Ccdc13 UTSW 9 121798909 intron probably benign
R6214:Ccdc13 UTSW 9 121798909 intron probably benign
R6215:Ccdc13 UTSW 9 121798909 intron probably benign
R6222:Ccdc13 UTSW 9 121798909 intron probably benign
R6223:Ccdc13 UTSW 9 121798909 intron probably benign
R6257:Ccdc13 UTSW 9 121798909 intron probably benign
R7053:Ccdc13 UTSW 9 121833838 missense probably damaging 0.97
Posted On2013-06-21