Incidental Mutation 'R0219:Ccdc116'
ID 33750
Institutional Source Beutler Lab
Gene Symbol Ccdc116
Ensembl Gene ENSMUSG00000022768
Gene Name coiled-coil domain containing 116
Synonyms 4930432J16Rik
MMRRC Submission 038468-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0219 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 16956928-16965093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16959476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 404 (R404S)
Ref Sequence ENSEMBL: ENSMUSP00000155923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023452] [ENSMUST00000115709] [ENSMUST00000115711] [ENSMUST00000231597] [ENSMUST00000232033] [ENSMUST00000232540] [ENSMUST00000231726]
AlphaFold Q80X53
Predicted Effect possibly damaging
Transcript: ENSMUST00000023452
AA Change: R404S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023452
Gene: ENSMUSG00000022768
AA Change: R404S

DomainStartEndE-ValueType
low complexity region 116 127 N/A INTRINSIC
low complexity region 150 161 N/A INTRINSIC
low complexity region 190 206 N/A INTRINSIC
low complexity region 488 503 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115709
AA Change: R404S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111374
Gene: ENSMUSG00000022768
AA Change: R404S

DomainStartEndE-ValueType
low complexity region 116 127 N/A INTRINSIC
low complexity region 150 161 N/A INTRINSIC
low complexity region 190 206 N/A INTRINSIC
low complexity region 488 503 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115711
AA Change: R404S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111376
Gene: ENSMUSG00000022768
AA Change: R404S

DomainStartEndE-ValueType
Pfam:DUF4702 18 411 6.3e-223 PFAM
low complexity region 488 503 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145792
Predicted Effect probably benign
Transcript: ENSMUST00000231597
Predicted Effect possibly damaging
Transcript: ENSMUST00000232033
AA Change: R404S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232540
AA Change: R404S

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000231726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231970
Meta Mutation Damage Score 0.2989 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.3%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,849,885 (GRCm39) probably benign Het
Acacb T A 5: 114,371,005 (GRCm39) M1749K possibly damaging Het
Aff1 GCTCTCTCTC GCTCTCTCTCTC 5: 103,958,906 (GRCm39) probably benign Het
Ankle2 C T 5: 110,399,511 (GRCm39) R624* probably null Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Brca2 A G 5: 150,446,640 (GRCm39) probably benign Het
Ccdc171 A G 4: 83,614,678 (GRCm39) probably benign Het
Ccdc80 A G 16: 44,916,846 (GRCm39) K534R probably damaging Het
Ccna1 T C 3: 54,958,348 (GRCm39) I112V probably benign Het
Cdhr1 A C 14: 36,801,558 (GRCm39) L795R possibly damaging Het
Cilp C A 9: 65,176,872 (GRCm39) L43I possibly damaging Het
Dclk2 T C 3: 86,720,976 (GRCm39) probably benign Het
Ddx59 C A 1: 136,360,047 (GRCm39) probably benign Het
Dgkd T C 1: 87,865,996 (GRCm39) probably benign Het
Dicer1 A G 12: 104,658,384 (GRCm39) probably null Het
Dst T G 1: 34,342,559 (GRCm39) S5030A probably damaging Het
Dysf G A 6: 84,106,443 (GRCm39) probably benign Het
Farp1 C A 14: 121,481,012 (GRCm39) P471Q possibly damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcer1g A G 1: 171,058,795 (GRCm39) V31A possibly damaging Het
Glb1l2 A G 9: 26,717,618 (GRCm39) V21A probably benign Het
Gm9912 T C 3: 148,891,131 (GRCm39) I1V unknown Het
Guf1 G A 5: 69,716,929 (GRCm39) A164T probably damaging Het
Hbb-bs T C 7: 103,475,876 (GRCm39) H147R possibly damaging Het
Hnrnpr T A 4: 136,066,474 (GRCm39) probably benign Het
Iglon5 A T 7: 43,126,261 (GRCm39) V214E probably damaging Het
Isx C A 8: 75,616,589 (GRCm39) probably null Het
Kank4 T C 4: 98,666,702 (GRCm39) N582D probably benign Het
Kcp T A 6: 29,495,784 (GRCm39) R773W probably damaging Het
Kdm4c T C 4: 74,291,857 (GRCm39) C825R probably damaging Het
Krt25 G A 11: 99,208,885 (GRCm39) T315M probably benign Het
Lrp5 A T 19: 3,647,349 (GRCm39) S1298T probably damaging Het
Map3k10 T C 7: 27,356,156 (GRCm39) D921G probably damaging Het
Mrgprx1 C A 7: 47,671,294 (GRCm39) W151L probably damaging Het
Mylk3 T A 8: 86,081,873 (GRCm39) D375V probably damaging Het
Nav3 C T 10: 109,702,791 (GRCm39) probably null Het
Ncan A G 8: 70,567,984 (GRCm39) S43P probably benign Het
Necab3 G T 2: 154,388,013 (GRCm39) Q292K probably benign Het
Nptx2 T C 5: 144,484,950 (GRCm39) S148P probably damaging Het
Or2at4 A T 7: 99,385,135 (GRCm39) I262L probably benign Het
Or6p1 G A 1: 174,258,032 (GRCm39) V13I probably benign Het
Pde6a A G 18: 61,419,006 (GRCm39) E794G possibly damaging Het
Pus7 T C 5: 23,980,964 (GRCm39) Y133C possibly damaging Het
Rad21l A G 2: 151,496,508 (GRCm39) probably benign Het
Rptor A T 11: 119,712,603 (GRCm39) probably benign Het
Sart1 C A 19: 5,438,424 (GRCm39) A78S probably benign Het
Shkbp1 T C 7: 27,051,486 (GRCm39) E191G probably benign Het
Slc6a18 A T 13: 73,822,751 (GRCm39) probably null Het
Stxbp5 T C 10: 9,646,272 (GRCm39) T147A probably benign Het
Sv2b A G 7: 74,807,015 (GRCm39) probably null Het
Syne2 A T 12: 76,088,778 (GRCm39) K5045N probably damaging Het
Tmem174 A C 13: 98,773,347 (GRCm39) M161R possibly damaging Het
Tmprss7 A G 16: 45,476,820 (GRCm39) V814A probably damaging Het
Togaram2 T C 17: 72,021,225 (GRCm39) probably benign Het
Tpr T C 1: 150,319,009 (GRCm39) probably null Het
Ttn T C 2: 76,730,572 (GRCm39) probably benign Het
Ubr4 T A 4: 139,157,568 (GRCm39) L2375Q possibly damaging Het
Utp20 T C 10: 88,600,537 (GRCm39) E1987G probably damaging Het
Utrn T C 10: 12,560,195 (GRCm39) T1365A probably damaging Het
Vmn2r116 T A 17: 23,605,072 (GRCm39) Y128* probably null Het
Vmn2r5 A G 3: 64,411,734 (GRCm39) V278A probably damaging Het
Vps13d C T 4: 144,832,479 (GRCm39) S2809N probably benign Het
Zfp212 G A 6: 47,903,619 (GRCm39) R68H probably damaging Het
Zfp442 A T 2: 150,253,160 (GRCm39) L33Q probably damaging Het
Zfp629 T C 7: 127,211,255 (GRCm39) S185G probably damaging Het
Zfp738 A G 13: 67,831,508 (GRCm39) probably benign Het
Other mutations in Ccdc116
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Ccdc116 APN 16 16,959,856 (GRCm39) missense probably damaging 1.00
IGL01905:Ccdc116 APN 16 16,960,425 (GRCm39) missense probably damaging 0.99
IGL02751:Ccdc116 APN 16 16,959,836 (GRCm39) missense probably benign 0.00
IGL03183:Ccdc116 APN 16 16,960,718 (GRCm39) missense probably benign 0.07
R0009:Ccdc116 UTSW 16 16,961,903 (GRCm39) missense probably damaging 1.00
R0009:Ccdc116 UTSW 16 16,961,903 (GRCm39) missense probably damaging 1.00
R0122:Ccdc116 UTSW 16 16,960,598 (GRCm39) missense probably damaging 1.00
R1664:Ccdc116 UTSW 16 16,960,492 (GRCm39) missense probably benign 0.02
R1718:Ccdc116 UTSW 16 16,959,772 (GRCm39) missense probably benign
R2921:Ccdc116 UTSW 16 16,960,307 (GRCm39) missense probably benign 0.02
R2922:Ccdc116 UTSW 16 16,960,307 (GRCm39) missense probably benign 0.02
R2923:Ccdc116 UTSW 16 16,960,307 (GRCm39) missense probably benign 0.02
R4119:Ccdc116 UTSW 16 16,960,051 (GRCm39) missense probably damaging 1.00
R4223:Ccdc116 UTSW 16 16,964,809 (GRCm39) unclassified probably benign
R5000:Ccdc116 UTSW 16 16,959,657 (GRCm39) missense possibly damaging 0.95
R5293:Ccdc116 UTSW 16 16,959,651 (GRCm39) missense possibly damaging 0.92
R5435:Ccdc116 UTSW 16 16,960,626 (GRCm39) missense probably benign 0.38
R6694:Ccdc116 UTSW 16 16,960,655 (GRCm39) missense probably benign 0.44
R7215:Ccdc116 UTSW 16 16,957,792 (GRCm39) missense probably damaging 1.00
R7247:Ccdc116 UTSW 16 16,957,555 (GRCm39) missense possibly damaging 0.89
R7771:Ccdc116 UTSW 16 16,957,455 (GRCm39) missense probably benign 0.00
R9591:Ccdc116 UTSW 16 16,960,598 (GRCm39) missense probably damaging 1.00
Z1088:Ccdc116 UTSW 16 16,965,035 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TCAGAGGTTGCTCTAACACCTCCAG -3'
(R):5'- AGCCCAGCTCTAAGGCTTCCATAC -3'

Sequencing Primer
(F):5'- CACCTCTGGATGCAGTGTAG -3'
(R):5'- TACCCACCAACAGGGAGG -3'
Posted On 2013-05-09