Incidental Mutation 'R4582:Ccdc138'
ID 343740
Institutional Source Beutler Lab
Gene Symbol Ccdc138
Ensembl Gene ENSMUSG00000038010
Gene Name coiled-coil domain containing 138
Synonyms 6230424H07Rik
MMRRC Submission 041803-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R4582 (G1)
Quality Score 90
Status Not validated
Chromosome 10
Chromosomal Location 58333770-58412066 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 58343465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036576]
AlphaFold Q0VF22
Predicted Effect probably null
Transcript: ENSMUST00000036576
SMART Domains Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010

DomainStartEndE-ValueType
coiled coil region 259 339 N/A INTRINSIC
low complexity region 355 365 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra A T 15: 41,732,681 (GRCm39) D128E probably benign Het
Akap11 A T 14: 78,749,369 (GRCm39) V1006E possibly damaging Het
Ankrd7 T A 6: 18,868,020 (GRCm39) N95K probably damaging Het
Brd9 T C 13: 74,095,852 (GRCm39) F366L probably benign Het
Brinp2 A G 1: 158,095,508 (GRCm39) F118L probably damaging Het
Celsr3 T C 9: 108,722,922 (GRCm39) F189L probably damaging Het
Cfap45 A G 1: 172,357,479 (GRCm39) T36A probably benign Het
Clec4a1 G T 6: 122,909,150 (GRCm39) V173L possibly damaging Het
Col6a5 G A 9: 105,739,963 (GRCm39) T2552I probably benign Het
Dcaf15 A G 8: 84,824,598 (GRCm39) V533A probably damaging Het
Dhrs9 A T 2: 69,227,997 (GRCm39) I204F probably damaging Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Eef1akmt1 T C 14: 57,787,905 (GRCm39) D151G probably damaging Het
Eif4g3 G A 4: 137,898,556 (GRCm39) R1109H probably damaging Het
Gtpbp10 T C 5: 5,592,395 (GRCm39) T191A possibly damaging Het
Hectd4 A G 5: 121,424,482 (GRCm39) N714S possibly damaging Het
Lima1 T C 15: 99,678,873 (GRCm39) T523A possibly damaging Het
Lipe A G 7: 25,097,127 (GRCm39) L272P probably benign Het
Llgl2 A G 11: 115,741,532 (GRCm39) E554G possibly damaging Het
Lrrc66 T C 5: 73,765,580 (GRCm39) S488G possibly damaging Het
Man2a1 C T 17: 65,059,494 (GRCm39) A1127V probably benign Het
Naglu A T 11: 100,962,755 (GRCm39) I187F probably damaging Het
Nt5c1b T A 12: 10,440,054 (GRCm39) M548K probably damaging Het
Or10ak14 A T 4: 118,611,090 (GRCm39) I217N probably damaging Het
Or6c38 A T 10: 128,929,027 (GRCm39) V272E possibly damaging Het
Pcdha3 T C 18: 37,080,485 (GRCm39) V409A probably benign Het
Pde6b A T 5: 108,573,097 (GRCm39) probably null Het
Pkd2 A T 5: 104,650,210 (GRCm39) K857* probably null Het
Rfx4 T A 10: 84,680,164 (GRCm39) S114T possibly damaging Het
Sacs G A 14: 61,429,147 (GRCm39) G402D probably damaging Het
Slc22a5 C T 11: 53,782,035 (GRCm39) E111K probably damaging Het
Sptbn1 G A 11: 30,169,597 (GRCm39) R44C probably damaging Het
Taf1 T C X: 100,637,601 (GRCm39) V1696A possibly damaging Het
Tm9sf3 C A 19: 41,244,605 (GRCm39) G91C probably damaging Het
Tmie T G 9: 110,702,865 (GRCm39) E32A probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsga13 A T 6: 30,879,298 (GRCm39) N138K probably benign Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ugt1a10 A T 1: 87,983,463 (GRCm39) D87V possibly damaging Het
Vdac3-ps1 A T 13: 18,206,177 (GRCm39) noncoding transcript Het
Vmn1r29 A C 6: 58,285,017 (GRCm39) I246L probably damaging Het
Zbtb16 A G 9: 48,743,382 (GRCm39) V310A 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
IGL02652:Ccdc138 APN 10 58,348,901 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CCTTTTAGGAGGCCAGAATGAGAC -3'
(R):5'- AACTATTTGTGACCTGTATCTACTGGC -3'

Sequencing Primer
(F):5'- GGCCAGAATGAGACCATTAGTATTTG -3'
(R):5'- TGTATCTACTGGCAGGACAGCATAC -3'
Posted On 2015-09-24