Incidental Mutation 'IGL01620:Ccdc155'
ID92490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc155
Ensembl Gene ENSMUSG00000038292
Gene Namecoiled-coil domain containing 155
SynonymsKASH5, LOC384619
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01620
Quality Score
Status
Chromosome7
Chromosomal Location45183624-45204892 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45189960 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 359 (D359G)
Ref Sequence ENSEMBL: ENSMUSP00000113616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121017]
Predicted Effect probably damaging
Transcript: ENSMUST00000121017
AA Change: D359G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292
AA Change: D359G

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:EF-hand_9 108 175 8e-31 PFAM
Pfam:KASH_CCD 227 419 2.4e-90 PFAM
low complexity region 472 498 N/A INTRINSIC
low complexity region 607 633 N/A INTRINSIC
low complexity region 638 647 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147253
AA Change: D36G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211277
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,339,950 V277D probably damaging Het
Akap9 T A 5: 3,960,218 V325D probably benign Het
Ambra1 A G 2: 91,911,412 probably null Het
Ano9 A G 7: 141,110,439 L94P probably damaging Het
Atad3a G T 4: 155,746,078 T521K probably damaging Het
Bckdk A G 7: 127,905,776 K126E possibly damaging Het
Bdp1 A T 13: 100,084,205 probably benign Het
Btbd17 T C 11: 114,795,773 T26A probably benign Het
Cadps2 G A 6: 23,587,462 S314L probably benign Het
Ccl8 A T 11: 82,116,609 Q90L probably damaging Het
Chit1 T C 1: 134,150,519 V355A probably damaging Het
Col17a1 A G 19: 47,668,539 I555T possibly damaging Het
Dmwd T A 7: 19,081,234 probably null Het
Dtna T C 18: 23,625,087 I483T probably damaging Het
Eloc T A 1: 16,643,278 probably benign Het
Emc7 T A 2: 112,464,774 L177H probably damaging Het
Emsy T A 7: 98,626,624 K352I probably damaging Het
Ermn T C 2: 58,052,490 E76G probably benign Het
Flot1 A T 17: 35,829,871 E203V possibly damaging Het
Hsd11b2 A G 8: 105,522,897 K266R probably benign Het
Iqck A T 7: 118,877,678 K154M probably damaging Het
Itgb5 T A 16: 33,919,798 V426E probably damaging Het
Kif13a T C 13: 46,864,820 K53R probably benign Het
Klhl2 A T 8: 64,779,738 H168Q probably damaging Het
Lpcat2b T C 5: 107,433,893 Y363H probably damaging Het
Lrp6 A T 6: 134,511,262 N290K probably damaging Het
Map2k3 T C 11: 60,950,047 F301L possibly damaging Het
Mns1 A G 9: 72,456,913 probably benign Het
Nos1 A G 5: 117,905,309 probably null Het
Olfr346 T A 2: 36,688,538 C179S probably damaging Het
Olfr652 T A 7: 104,565,013 V264D probably damaging Het
Pask A T 1: 93,310,122 H1374Q possibly damaging Het
Pik3r1 G A 13: 101,686,220 A658V probably damaging Het
Ppp2r2a A T 14: 67,070,277 F14I probably damaging Het
Ptprc C T 1: 138,068,410 E904K possibly damaging Het
Rab11fip4 G T 11: 79,691,879 D591Y possibly damaging Het
Rab3gap2 A G 1: 185,204,326 T29A probably benign Het
Rgs19 A G 2: 181,689,588 V84A possibly damaging Het
Shisa6 T G 11: 66,217,879 M391L probably benign Het
Sipa1l1 G A 12: 82,422,489 G1254D probably damaging Het
Slfn8 A T 11: 83,004,233 Y358* probably null Het
Taf3 G T 2: 9,952,661 R232S probably benign Het
Terb2 T A 2: 122,204,857 H186Q possibly damaging Het
Trav13n-4 T C 14: 53,364,016 S81P probably damaging Het
Trim30d G T 7: 104,472,126 P321T possibly damaging Het
Tyrp1 G T 4: 80,844,802 G309* probably null Het
Vps13d C A 4: 145,094,867 G2979V possibly damaging Het
Other mutations in Ccdc155
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Ccdc155 APN 7 45185306 missense possibly damaging 0.72
IGL01120:Ccdc155 APN 7 45184198 missense probably damaging 0.99
IGL01643:Ccdc155 APN 7 45200286 missense probably damaging 0.99
IGL02528:Ccdc155 APN 7 45183746 unclassified probably benign
PIT4585001:Ccdc155 UTSW 7 45200271 missense probably benign 0.02
R0240:Ccdc155 UTSW 7 45200251 missense probably benign 0.43
R1219:Ccdc155 UTSW 7 45189408 splice site probably benign
R1768:Ccdc155 UTSW 7 45188803 intron probably null
R5155:Ccdc155 UTSW 7 45189654 nonsense probably null
R5818:Ccdc155 UTSW 7 45193959 critical splice donor site probably null
R6746:Ccdc155 UTSW 7 45200311 missense probably benign 0.06
R7540:Ccdc155 UTSW 7 45188184 small insertion probably benign
R7574:Ccdc155 UTSW 7 45204611 missense possibly damaging 0.53
R8030:Ccdc155 UTSW 7 45188184 small insertion probably benign
R8032:Ccdc155 UTSW 7 45188184 small insertion probably benign
R8032:Ccdc155 UTSW 7 45188206
Z1176:Ccdc155 UTSW 7 45184254 critical splice acceptor site unknown
Posted On2013-12-09