Incidental Mutation 'IGL01722:Ccdc158'
ID105142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc158
Ensembl Gene ENSMUSG00000050050
Gene Namecoiled-coil domain containing 158
Synonyms4932413O14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock #IGL01722
Quality Score
Status
Chromosome5
Chromosomal Location92607954-92675271 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92662739 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 97 (N97D)
Ref Sequence ENSEMBL: ENSMUSP00000117894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060930] [ENSMUST00000150359] [ENSMUST00000151180]
Predicted Effect possibly damaging
Transcript: ENSMUST00000060930
AA Change: N97D

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050
AA Change: N97D

DomainStartEndE-ValueType
Pfam:CCDC158 1 1109 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150359
AA Change: N97D

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123259
Gene: ENSMUSG00000050050
AA Change: N97D

DomainStartEndE-ValueType
Pfam:CCDC158 1 346 1.5e-220 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000151180
AA Change: N97D

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117894
Gene: ENSMUSG00000050050
AA Change: N97D

DomainStartEndE-ValueType
coiled coil region 71 105 N/A INTRINSIC
coiled coil region 127 166 N/A INTRINSIC
coiled coil region 244 343 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c T A 2: 58,283,549 probably benign Het
Alb G A 5: 90,470,839 probably null Het
Ankrd9 A G 12: 110,977,363 V46A probably damaging Het
Apol11a A T 15: 77,517,107 M265L probably benign Het
Cobl T G 11: 12,253,987 H823P probably benign Het
Dnaja2 A T 8: 85,553,279 H90Q probably benign Het
Dpagt1 T C 9: 44,327,602 F73S possibly damaging Het
Dph3 C T 14: 32,085,460 E20K possibly damaging Het
Fam198a G A 9: 121,965,083 S101N possibly damaging Het
Fbxl13 G T 5: 21,490,414 T660K possibly damaging Het
Glt6d1 T C 2: 25,794,419 T192A probably benign Het
Mroh7 C T 4: 106,703,161 V649I probably benign Het
Mta3 T C 17: 83,755,643 Y4H possibly damaging Het
Myh14 A G 7: 44,643,532 L369P probably damaging Het
Olfr1263 T C 2: 90,015,007 C26R probably benign Het
Olfr1385 G T 11: 49,494,966 L144F probably damaging Het
Paxx T C 2: 25,460,265 D110G probably damaging Het
Pcyox1 T G 6: 86,388,753 D493A probably damaging Het
Plk2 A G 13: 110,399,442 E560G probably benign Het
Rnf6 A G 5: 146,210,226 F661L probably benign Het
Sema4a T C 3: 88,438,184 K531E probably benign Het
Svs2 T C 2: 164,237,526 K154E possibly damaging Het
Tbx4 A T 11: 85,911,943 Q242L probably damaging Het
Tgm3 A T 2: 130,044,568 I570F probably damaging Het
Thrap3 A T 4: 126,165,529 M908K possibly damaging Het
Trmo A G 4: 46,386,092 probably null Het
Usp8 T A 2: 126,758,152 L997Q probably damaging Het
Vmn1r202 T C 13: 22,501,720 R176G probably benign Het
Vps52 T A 17: 33,961,615 Y308* probably null Het
Other mutations in Ccdc158
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Ccdc158 APN 5 92657881 missense probably benign 0.01
IGL00926:Ccdc158 APN 5 92650767 missense probably damaging 0.98
IGL01533:Ccdc158 APN 5 92609956 splice site probably null
IGL01551:Ccdc158 APN 5 92666761 missense probably damaging 0.96
IGL01591:Ccdc158 APN 5 92662041 missense probably benign 0.28
IGL02250:Ccdc158 APN 5 92608478 missense probably damaging 1.00
IGL02457:Ccdc158 APN 5 92650048 missense probably damaging 1.00
IGL02570:Ccdc158 APN 5 92649026 missense possibly damaging 0.81
IGL02951:Ccdc158 APN 5 92650006 missense probably damaging 1.00
IGL03275:Ccdc158 APN 5 92629632 missense probably benign 0.00
R0238:Ccdc158 UTSW 5 92662118 missense probably benign 0.31
R0238:Ccdc158 UTSW 5 92662118 missense probably benign 0.31
R0747:Ccdc158 UTSW 5 92633297 missense probably benign 0.00
R1219:Ccdc158 UTSW 5 92654181 splice site probably benign
R1480:Ccdc158 UTSW 5 92649044 missense probably damaging 1.00
R1926:Ccdc158 UTSW 5 92650788 missense probably benign 0.41
R2172:Ccdc158 UTSW 5 92632508 missense probably damaging 1.00
R2245:Ccdc158 UTSW 5 92609952 unclassified probably benign
R3004:Ccdc158 UTSW 5 92649070 missense probably damaging 1.00
R3147:Ccdc158 UTSW 5 92657963 missense probably damaging 1.00
R3693:Ccdc158 UTSW 5 92610045 missense probably damaging 1.00
R3694:Ccdc158 UTSW 5 92610045 missense probably damaging 1.00
R3735:Ccdc158 UTSW 5 92632424 missense possibly damaging 0.60
R3736:Ccdc158 UTSW 5 92632424 missense possibly damaging 0.60
R3912:Ccdc158 UTSW 5 92648935 missense possibly damaging 0.90
R4026:Ccdc158 UTSW 5 92643807 missense probably benign 0.07
R4080:Ccdc158 UTSW 5 92623396 missense probably benign 0.00
R4463:Ccdc158 UTSW 5 92634300 missense probably null 0.99
R4483:Ccdc158 UTSW 5 92633328 missense probably benign 0.01
R4859:Ccdc158 UTSW 5 92633403 missense probably damaging 0.99
R5016:Ccdc158 UTSW 5 92657892 missense probably benign 0.01
R5050:Ccdc158 UTSW 5 92666879 missense probably benign 0.01
R5372:Ccdc158 UTSW 5 92632560 missense possibly damaging 0.55
R5427:Ccdc158 UTSW 5 92648962 missense probably damaging 1.00
R5847:Ccdc158 UTSW 5 92627480 missense probably benign 0.00
R5966:Ccdc158 UTSW 5 92650049 missense probably damaging 1.00
R6106:Ccdc158 UTSW 5 92627466 missense probably benign
R6185:Ccdc158 UTSW 5 92666854 missense possibly damaging 0.73
R6562:Ccdc158 UTSW 5 92662722 missense probably damaging 0.99
R6743:Ccdc158 UTSW 5 92662146 missense probably benign 0.08
R6815:Ccdc158 UTSW 5 92612486 missense probably damaging 0.99
R6914:Ccdc158 UTSW 5 92662070 missense probably benign 0.00
R6975:Ccdc158 UTSW 5 92666720 nonsense probably null
R7252:Ccdc158 UTSW 5 92650788 missense probably benign 0.41
R7477:Ccdc158 UTSW 5 92650696 missense probably damaging 0.96
R7782:Ccdc158 UTSW 5 92645514 missense probably benign 0.00
R8014:Ccdc158 UTSW 5 92649030 missense probably damaging 1.00
R8018:Ccdc158 UTSW 5 92623401 missense possibly damaging 0.64
X0025:Ccdc158 UTSW 5 92662012 missense probably benign
Z1176:Ccdc158 UTSW 5 92608491 missense probably damaging 1.00
Posted On2014-01-21