Incidental Mutation 'R3805:Ccdc138'
ID 274562
Institutional Source Beutler Lab
Gene Symbol Ccdc138
Ensembl Gene ENSMUSG00000038010
Gene Name coiled-coil domain containing 138
Synonyms 6230424H07Rik
MMRRC Submission 040762-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R3805 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 58333770-58412066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58397819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 553 (I553T)
Ref Sequence ENSEMBL: ENSMUSP00000043040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036576]
AlphaFold Q0VF22
Predicted Effect possibly damaging
Transcript: ENSMUST00000036576
AA Change: I553T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: I553T

DomainStartEndE-ValueType
coiled coil region 259 339 N/A INTRINSIC
low complexity region 355 365 N/A INTRINSIC
Meta Mutation Damage Score 0.1386 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Aebp2 GCGGCC GCGGCCGGCC 6: 140,589,675 (GRCm39) probably null Het
Ano5 T C 7: 51,226,398 (GRCm39) F584L probably benign Het
Ap1b1 T A 11: 4,983,225 (GRCm39) probably null Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dhrs2 A T 14: 55,472,205 (GRCm39) N32I probably benign Het
Dnah1 A T 14: 31,016,720 (GRCm39) M1599K possibly damaging Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Fam169a G A 13: 97,234,192 (GRCm39) V155I probably benign Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Hdac3 A G 18: 38,078,745 (GRCm39) probably null Het
Herc3 C A 6: 58,893,835 (GRCm39) H970Q probably damaging Het
Htt A G 5: 35,034,548 (GRCm39) probably null Het
Ifit1 A G 19: 34,625,556 (GRCm39) I231V probably damaging Het
Lingo4 A G 3: 94,309,407 (GRCm39) D115G probably damaging Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Map7d1 A T 4: 126,131,084 (GRCm39) probably null Het
Morf4l1 A G 9: 89,977,196 (GRCm39) S203P probably benign Het
Naaladl1 A G 19: 6,164,895 (GRCm39) T628A probably benign Het
Nlrp9a T A 7: 26,264,277 (GRCm39) C643* probably null Het
Or4ac1-ps1 A T 2: 88,370,700 (GRCm39) noncoding transcript Het
Or4b1 T G 2: 89,978,805 (GRCm39) probably benign Het
Oxtr T C 6: 112,454,147 (GRCm39) K39R probably benign Het
Ppp4r4 T A 12: 103,566,625 (GRCm39) M24K probably damaging Het
Ppp6r2 T C 15: 89,149,842 (GRCm39) F256L probably benign Het
Robo4 A T 9: 37,315,734 (GRCm39) D329V possibly damaging Het
Rsph10b G A 5: 143,895,206 (GRCm39) probably null Het
Slc9b2 T C 3: 135,030,349 (GRCm39) L222P probably damaging Het
Speer4a1 C T 5: 26,240,082 (GRCm39) E223K possibly damaging Het
St18 T A 1: 6,872,577 (GRCm39) L104H probably damaging Het
Tmem184c C A 8: 78,323,504 (GRCm39) D453Y unknown Het
Trpv1 A T 11: 73,143,879 (GRCm39) N237I probably damaging Het
Vmn2r77 T A 7: 86,444,368 (GRCm39) L7* probably null 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
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'- GGGGTGAATCTAAACTTAGGACCTC -3'
(R):5'- GCAGAAGTGCCTGGTGTATG -3'

Sequencing Primer
(F):5'- TAAAGTGATGGTTCTTTTTGTTTAGC -3'
(R):5'- TGAGGTTAACACGTTCTGATCAGAG -3'
Posted On 2015-04-02