Incidental Mutation 'IGL02652:Ccdc138'
ID 302210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc138
Ensembl Gene ENSMUSG00000038010
Gene Name coiled-coil domain containing 138
Synonyms 6230424H07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL02652
Quality Score
Status
Chromosome 10
Chromosomal Location 58333770-58412066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58348901 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q0VF22
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: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Ccdc138
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Ccdc138 APN 10 58,411,537 (GRCm39) missense probably damaging 1.00
IGL00957:Ccdc138 APN 10 58,364,838 (GRCm39) splice site probably benign
IGL01012:Ccdc138 APN 10 58,376,737 (GRCm39) critical splice donor site probably null
IGL01725:Ccdc138 APN 10 58,364,745 (GRCm39) missense possibly damaging 0.50
IGL01996:Ccdc138 APN 10 58,397,852 (GRCm39) missense probably damaging 1.00
IGL02083:Ccdc138 APN 10 58,380,736 (GRCm39) splice site probably benign
IGL02820:Ccdc138 APN 10 58,364,721 (GRCm39) splice site probably benign
IGL02934:Ccdc138 APN 10 58,409,402 (GRCm39) splice site probably benign
IGL03231:Ccdc138 APN 10 58,409,528 (GRCm39) missense probably damaging 1.00
R0128:Ccdc138 UTSW 10 58,364,182 (GRCm39) missense probably damaging 1.00
R0271:Ccdc138 UTSW 10 58,411,645 (GRCm39) missense probably damaging 0.99
R0480:Ccdc138 UTSW 10 58,397,789 (GRCm39) missense probably damaging 1.00
R0560:Ccdc138 UTSW 10 58,411,539 (GRCm39) missense probably damaging 1.00
R0645:Ccdc138 UTSW 10 58,411,542 (GRCm39) missense probably damaging 1.00
R1405:Ccdc138 UTSW 10 58,380,939 (GRCm39) splice site probably benign
R2032:Ccdc138 UTSW 10 58,348,984 (GRCm39) missense possibly damaging 0.71
R2097:Ccdc138 UTSW 10 58,397,759 (GRCm39) nonsense probably null
R2350:Ccdc138 UTSW 10 58,397,715 (GRCm39) splice site probably benign
R2571:Ccdc138 UTSW 10 58,349,044 (GRCm39) missense probably benign 0.25
R3787:Ccdc138 UTSW 10 58,374,092 (GRCm39) missense probably damaging 1.00
R3805:Ccdc138 UTSW 10 58,397,819 (GRCm39) missense possibly damaging 0.95
R4582:Ccdc138 UTSW 10 58,343,465 (GRCm39) critical splice donor site probably null
R4630:Ccdc138 UTSW 10 58,409,477 (GRCm39) missense probably damaging 1.00
R4801:Ccdc138 UTSW 10 58,409,465 (GRCm39) missense probably damaging 1.00
R4802:Ccdc138 UTSW 10 58,409,465 (GRCm39) missense probably damaging 1.00
R4883:Ccdc138 UTSW 10 58,397,818 (GRCm39) missense probably benign 0.03
R4908:Ccdc138 UTSW 10 58,380,817 (GRCm39) missense possibly damaging 0.84
R5032:Ccdc138 UTSW 10 58,409,458 (GRCm39) missense probably damaging 1.00
R5155:Ccdc138 UTSW 10 58,343,394 (GRCm39) missense probably benign 0.00
R5287:Ccdc138 UTSW 10 58,411,527 (GRCm39) missense possibly damaging 0.89
R5683:Ccdc138 UTSW 10 58,376,641 (GRCm39) missense probably damaging 1.00
R5963:Ccdc138 UTSW 10 58,411,579 (GRCm39) missense possibly damaging 0.90
R6530:Ccdc138 UTSW 10 58,380,790 (GRCm39) missense probably damaging 1.00
R7148:Ccdc138 UTSW 10 58,374,102 (GRCm39) missense probably damaging 1.00
R7217:Ccdc138 UTSW 10 58,345,422 (GRCm39) missense probably benign 0.33
R9031:Ccdc138 UTSW 10 58,380,893 (GRCm39) missense probably damaging 1.00
R9080:Ccdc138 UTSW 10 58,397,884 (GRCm39) missense probably damaging 0.99
R9104:Ccdc138 UTSW 10 58,348,982 (GRCm39) missense probably benign 0.05
R9134:Ccdc138 UTSW 10 58,374,102 (GRCm39) missense probably damaging 0.99
R9300:Ccdc138 UTSW 10 58,343,448 (GRCm39) missense probably benign 0.00
R9409:Ccdc138 UTSW 10 58,374,135 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16