Incidental Mutation 'IGL01060:Ccdc78'
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ID52990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc78
Ensembl Gene ENSMUSG00000071202
Gene Namecoiled-coil domain containing 78
SynonymsLOC381077, LOC381146
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01060
Quality Score
Status
Chromosome17
Chromosomal Location25786580-25790513 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25788832 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 281 (D281G)
Ref Sequence ENSEMBL: ENSMUSP00000093155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072735] [ENSMUST00000077938] [ENSMUST00000095500] [ENSMUST00000133071] [ENSMUST00000138759] [ENSMUST00000140738] [ENSMUST00000145053] [ENSMUST00000150324]
Predicted Effect probably benign
Transcript: ENSMUST00000072735
SMART Domains Protein: ENSMUSP00000072518
Gene: ENSMUSG00000057411

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
SCOP:d1f3la_ 65 141 2e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077938
SMART Domains Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Pfam:HAGH_C 174 270 3.2e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095500
AA Change: D281G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202
AA Change: D281G

DomainStartEndE-ValueType
Pfam:DUF4472 63 190 5.5e-23 PFAM
coiled coil region 364 408 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129917
Predicted Effect probably benign
Transcript: ENSMUST00000133071
SMART Domains Protein: ENSMUSP00000120885
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 1 125 1.34e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138100
Predicted Effect probably benign
Transcript: ENSMUST00000138759
SMART Domains Protein: ENSMUSP00000115538
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 1 125 1.34e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140738
SMART Domains Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143248
Predicted Effect probably benign
Transcript: ENSMUST00000145053
SMART Domains Protein: ENSMUSP00000114961
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Pfam:Lactamase_B 7 113 3.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148986
Predicted Effect probably benign
Transcript: ENSMUST00000150324
SMART Domains Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Pfam:HAGH_C 174 270 3.2e-24 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Anks4b A G 7: 120,173,925 T3A possibly damaging Het
Arhgef26 T A 3: 62,340,121 S209T probably benign Het
Ccnb3 A T X: 6,980,274 N1362K probably benign Het
Dnah2 T C 11: 69,478,092 N1662S possibly damaging Het
Ern2 T A 7: 122,170,092 R904W probably damaging Het
Fam120c C T X: 151,469,587 P1045S probably benign Het
Gm12887 C T 4: 121,616,413 probably benign Het
Gpld1 G A 13: 24,982,566 G627S probably damaging Het
Ikbkap C T 4: 56,784,537 probably null Het
Krt77 T A 15: 101,860,880 probably benign Het
Ltf A T 9: 111,022,882 probably null Het
Map3k6 G T 4: 133,247,302 probably null Het
Nsd1 G A 13: 55,263,429 G1431D probably damaging Het
Plekhm2 C T 4: 141,642,645 probably null Het
Popdc2 T A 16: 38,373,965 N249K probably damaging Het
Ppm1h A G 10: 122,907,571 D400G possibly damaging Het
Rps6ka1 A T 4: 133,860,870 S320T probably damaging Het
Rsph6a C T 7: 19,054,868 R42* probably null Het
Sap130 T C 18: 31,715,443 L967P probably damaging Het
Smyd2 T C 1: 189,897,470 E121G possibly damaging Het
Sspo G A 6: 48,449,479 W144* probably null Het
Taar6 A G 10: 23,985,072 V192A probably benign Het
Tbc1d24 A T 17: 24,185,828 V114E probably damaging Het
Trim16 T C 11: 62,820,704 I67T probably benign Het
Ttll7 A G 3: 146,909,582 D267G possibly damaging Het
Ttn T C 2: 76,889,729 probably benign Het
Vmn2r56 T A 7: 12,713,089 I379F probably damaging Het
Zfp14 T C 7: 30,038,085 T492A probably damaging Het
Other mutations in Ccdc78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Ccdc78 APN 17 25789054 missense possibly damaging 0.73
IGL01403:Ccdc78 APN 17 25788244 critical splice donor site probably null
R0201:Ccdc78 UTSW 17 25789236 unclassified probably benign
R1521:Ccdc78 UTSW 17 25788781 missense probably damaging 1.00
R1933:Ccdc78 UTSW 17 25787070 missense probably damaging 1.00
R4860:Ccdc78 UTSW 17 25788700 missense probably benign
R4860:Ccdc78 UTSW 17 25788700 missense probably benign
R5107:Ccdc78 UTSW 17 25787480 missense possibly damaging 0.95
R5195:Ccdc78 UTSW 17 25789988 splice site probably null
R5587:Ccdc78 UTSW 17 25786677 missense probably benign 0.27
R6145:Ccdc78 UTSW 17 25789065 missense probably benign 0.09
R6392:Ccdc78 UTSW 17 25788174 missense probably damaging 0.97
R7624:Ccdc78 UTSW 17 25787152 missense probably damaging 1.00
R7654:Ccdc78 UTSW 17 25790111 missense probably damaging 1.00
R7956:Ccdc78 UTSW 17 25787117 missense possibly damaging 0.92
R8787:Ccdc78 UTSW 17 25787833 missense probably benign 0.19
X0028:Ccdc78 UTSW 17 25789855 splice site probably null
Posted On2013-06-21