Incidental Mutation 'R2350:Ccdc138'
ID 246073
Institutional Source Beutler Lab
Gene Symbol Ccdc138
Ensembl Gene ENSMUSG00000038010
Gene Name coiled-coil domain containing 138
Synonyms 6230424H07Rik
MMRRC Submission 040332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R2350 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 58333770-58412066 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 58397715 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 benign
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,655,047 (GRCm39) probably benign Het
Adam12 T C 7: 133,521,253 (GRCm39) T312A probably damaging Het
Adamts20 C T 15: 94,181,797 (GRCm39) C1632Y probably damaging Het
Ago2 T C 15: 72,991,310 (GRCm39) M543V probably benign Het
Alpk3 T C 7: 80,744,718 (GRCm39) L1271P probably damaging Het
Arpin T A 7: 79,581,553 (GRCm39) K56* probably null Het
Ccdc63 A T 5: 122,260,948 (GRCm39) M192K probably benign Het
Cldn12 A T 5: 5,557,845 (GRCm39) V194D possibly damaging Het
Cntnap5b T C 1: 100,306,851 (GRCm39) L485P probably damaging Het
Cpne7 A G 8: 123,851,208 (GRCm39) D165G probably damaging Het
Cyp2j6 A T 4: 96,417,645 (GRCm39) M326K probably damaging Het
D630003M21Rik T A 2: 158,042,931 (GRCm39) T870S probably damaging Het
Dennd2c A G 3: 103,039,317 (GRCm39) D155G probably benign Het
Dnah3 A T 7: 119,645,011 (GRCm39) probably null Het
Dqx1 T A 6: 83,036,068 (GRCm39) C133* probably null Het
Fam234b T A 6: 135,208,722 (GRCm39) V545E probably damaging Het
Flcn T C 11: 59,683,485 (GRCm39) H564R probably damaging Het
Gsdmc4 T A 15: 63,765,014 (GRCm39) H348L probably benign Het
Gucy2c G T 6: 136,740,072 (GRCm39) P252T probably damaging Het
Insl6 T A 19: 29,302,645 (GRCm39) E24V possibly damaging Het
Irx1 T A 13: 72,108,167 (GRCm39) T172S probably damaging Het
Mocos C T 18: 24,799,713 (GRCm39) probably benign Het
Myom2 T C 8: 15,158,835 (GRCm39) V837A probably benign Het
Nfatc2ip T C 7: 125,995,170 (GRCm39) N126S probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Npepl1 T C 2: 173,953,566 (GRCm39) S166P probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d11 G T 9: 19,966,384 (GRCm39) A125D probably damaging Het
Otop2 T G 11: 115,217,676 (GRCm39) C171G probably damaging Het
Parpbp C A 10: 87,968,950 (GRCm39) probably benign Het
Pcdhb20 T A 18: 37,637,563 (GRCm39) S30T probably benign Het
Phkg1 A T 5: 129,893,373 (GRCm39) V359E probably damaging Het
Ppp2cb A G 8: 34,101,855 (GRCm39) D131G probably null Het
Scn9a A G 2: 66,335,312 (GRCm39) Y1226H probably damaging Het
Unc5b A G 10: 60,613,979 (GRCm39) F290S probably benign Het
Vmn1r71 A G 7: 10,481,846 (GRCm39) F215L probably benign Het
Vmn2r101 T C 17: 19,810,045 (GRCm39) V277A probably benign Het
Vmn2r6 T C 3: 64,463,773 (GRCm39) S354G probably benign Het
Zfp292 A T 4: 34,811,281 (GRCm39) S588T probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GCCGTTGTAATTGGACTGCC -3'
(R):5'- ACGCAAGCATCATTTCTTTACAGAC -3'

Sequencing Primer
(F):5'- CGTTGTAATTGGACTGCCTTTTC -3'
(R):5'- GACTCTACTGTCATCTGAAGCAGG -3'
Posted On 2014-10-30