Incidental Mutation 'IGL02652:Ccdc138'
ID302210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc138
Ensembl Gene ENSMUSG00000038010
Gene Namecoiled-coil domain containing 138
Synonyms6230424H07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL02652
Quality Score
Status
Chromosome10
Chromosomal Location58497948-58576244 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58513079 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 149 (D149V)
Ref Sequence ENSEMBL: ENSMUSP00000043040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036576]
Predicted Effect probably benign
Transcript: ENSMUST00000036576
AA Change: D149V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: D149V

DomainStartEndE-ValueType
coiled coil region 259 339 N/A INTRINSIC
low complexity region 355 365 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 67,884,800 D139E probably benign Het
Asph C T 4: 9,529,984 V347I probably benign Het
Cep192 A G 18: 67,858,850 probably benign Het
Cnnm2 G A 19: 46,763,211 R480Q probably damaging Het
Col24a1 C A 3: 145,492,301 S1321* probably null Het
Cops6 T G 5: 138,161,438 probably null Het
Crim1 G A 17: 78,315,677 A435T probably damaging Het
Cttn G T 7: 144,441,731 Q382K probably benign Het
Dhx38 A G 8: 109,556,129 L635P probably damaging Het
Dmtf1 T A 5: 9,121,853 T458S probably benign Het
Dnah5 T C 15: 28,366,187 F2682S probably damaging Het
Dnah6 T A 6: 73,095,104 Q2413L probably damaging Het
Dock10 T C 1: 80,592,844 probably null Het
Engase C T 11: 118,478,950 P63S probably damaging Het
Grik4 A G 9: 42,675,277 V94A possibly damaging Het
Heatr6 T C 11: 83,769,732 V566A probably damaging Het
Hydin A C 8: 110,589,522 T4349P possibly damaging Het
Inpp4b G A 8: 81,770,800 probably benign Het
Mertk A G 2: 128,801,270 E863G probably benign Het
Muc19 T A 15: 91,877,815 noncoding transcript Het
Myo9a T A 9: 59,863,928 F928I probably damaging Het
Nyap2 T C 1: 81,241,720 Y486H probably damaging Het
Oas1e T C 5: 120,795,405 R32G probably damaging Het
Olfr113 A T 17: 37,574,945 Y159* probably null Het
Olfr1298 A G 2: 111,645,494 F168L probably benign Het
Osbpl6 G A 2: 76,593,454 R848Q probably damaging Het
Piezo2 G A 18: 63,024,475 T2388I probably damaging Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Ptpn12 T C 5: 21,002,437 K308E probably benign Het
Rgsl1 A G 1: 153,825,490 L441P probably damaging Het
Rictor T C 15: 6,776,187 probably null Het
Scn2a T A 2: 65,702,038 S665T possibly damaging Het
Scn8a A G 15: 101,013,476 I926V probably damaging Het
Snrpg T C 6: 86,376,528 I30T probably damaging Het
Spryd3 A T 15: 102,118,990 probably null Het
Svil A G 18: 5,114,531 D2036G probably damaging Het
Synj2 A T 17: 6,017,593 I551F probably damaging Het
Tiam2 A T 17: 3,439,696 probably benign Het
Tmem132b T C 5: 125,787,575 F915S probably damaging Het
Try5 C A 6: 41,311,408 V204L probably benign Het
Vmn2r6 T C 3: 64,556,328 T362A probably benign Het
Other mutations in Ccdc138
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Ccdc138 APN 10 58575715 missense probably damaging 1.00
IGL00957:Ccdc138 APN 10 58529016 splice site probably benign
IGL01012:Ccdc138 APN 10 58540915 critical splice donor site probably null
IGL01725:Ccdc138 APN 10 58528923 missense possibly damaging 0.50
IGL01996:Ccdc138 APN 10 58562030 missense probably damaging 1.00
IGL02083:Ccdc138 APN 10 58544914 splice site probably benign
IGL02820:Ccdc138 APN 10 58528899 splice site probably benign
IGL02934:Ccdc138 APN 10 58573580 splice site probably benign
IGL03231:Ccdc138 APN 10 58573706 missense probably damaging 1.00
R0128:Ccdc138 UTSW 10 58528360 missense probably damaging 1.00
R0271:Ccdc138 UTSW 10 58575823 missense probably damaging 0.99
R0480:Ccdc138 UTSW 10 58561967 missense probably damaging 1.00
R0560:Ccdc138 UTSW 10 58575717 missense probably damaging 1.00
R0645:Ccdc138 UTSW 10 58575720 missense probably damaging 1.00
R1405:Ccdc138 UTSW 10 58545117 splice site probably benign
R2032:Ccdc138 UTSW 10 58513162 missense possibly damaging 0.71
R2097:Ccdc138 UTSW 10 58561937 nonsense probably null
R2350:Ccdc138 UTSW 10 58561893 splice site probably benign
R2571:Ccdc138 UTSW 10 58513222 missense probably benign 0.25
R3787:Ccdc138 UTSW 10 58538270 missense probably damaging 1.00
R3805:Ccdc138 UTSW 10 58561997 missense possibly damaging 0.95
R4582:Ccdc138 UTSW 10 58507643 critical splice donor site probably null
R4630:Ccdc138 UTSW 10 58573655 missense probably damaging 1.00
R4801:Ccdc138 UTSW 10 58573643 missense probably damaging 1.00
R4802:Ccdc138 UTSW 10 58573643 missense probably damaging 1.00
R4883:Ccdc138 UTSW 10 58561996 missense probably benign 0.03
R4908:Ccdc138 UTSW 10 58544995 missense possibly damaging 0.84
R5032:Ccdc138 UTSW 10 58573636 missense probably damaging 1.00
R5155:Ccdc138 UTSW 10 58507572 missense probably benign 0.00
R5287:Ccdc138 UTSW 10 58575705 missense possibly damaging 0.89
R5683:Ccdc138 UTSW 10 58540819 missense probably damaging 1.00
R5963:Ccdc138 UTSW 10 58575757 missense possibly damaging 0.90
R6530:Ccdc138 UTSW 10 58544968 missense probably damaging 1.00
R7148:Ccdc138 UTSW 10 58538280 missense probably damaging 1.00
R7217:Ccdc138 UTSW 10 58509600 missense probably benign 0.33
Posted On2015-04-16