Incidental Mutation 'R5576:Ccdc122'
ID 437232
Institutional Source Beutler Lab
Gene Symbol Ccdc122
Ensembl Gene ENSMUSG00000034795
Gene Name coiled-coil domain containing 122
Synonyms 4933415L06Rik
MMRRC Submission 043131-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5576 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 77274212-77349697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77329317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 123 (M123I)
Ref Sequence ENSEMBL: ENSMUSP00000036369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048208] [ENSMUST00000095625] [ENSMUST00000175810]
AlphaFold Q8BVN0
Predicted Effect probably benign
Transcript: ENSMUST00000048208
AA Change: M123I

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036369
Gene: ENSMUSG00000034795
AA Change: M123I

DomainStartEndE-ValueType
coiled coil region 33 102 N/A INTRINSIC
coiled coil region 152 182 N/A INTRINSIC
coiled coil region 209 279 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095625
SMART Domains Protein: ENSMUSP00000093285
Gene: ENSMUSG00000034795

DomainStartEndE-ValueType
coiled coil region 68 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175810
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,570 (GRCm39) T96I probably benign Het
Add2 G T 6: 86,084,457 (GRCm39) probably null Het
Agbl1 C T 7: 75,984,985 (GRCm39) T134M probably benign Het
Agfg1 T A 1: 82,848,445 (GRCm39) S32T probably benign Het
Ankrd17 A C 5: 90,391,083 (GRCm39) S2087A probably benign Het
Apob A T 12: 8,048,662 (GRCm39) E1012V probably damaging Het
Baiap2 T A 11: 119,887,737 (GRCm39) V297E probably benign Het
BC034090 T G 1: 155,117,214 (GRCm39) K301N probably benign Het
Bhlha9 T C 11: 76,563,595 (GRCm39) I74T probably damaging Het
Btnl9 T C 11: 49,069,712 (GRCm39) H189R probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dnah9 T C 11: 65,724,922 (GRCm39) probably null Het
Dnaja2 A T 8: 86,266,033 (GRCm39) L351I possibly damaging Het
Efcab6 C A 15: 83,834,201 (GRCm39) S469I probably benign Het
Esp15 C A 17: 39,953,564 (GRCm39) T17K probably damaging Het
Fads1 A G 19: 10,163,238 (GRCm39) T172A probably benign Het
Fbp2 A T 13: 62,985,005 (GRCm39) D305E probably benign Het
Golga4 A G 9: 118,382,602 (GRCm39) T541A probably benign Het
Herc3 T C 6: 58,865,710 (GRCm39) Y768H probably benign Het
Kmt2a A G 9: 44,753,931 (GRCm39) V514A possibly damaging Het
Melk A G 4: 44,312,255 (GRCm39) E141G probably null Het
Nln A G 13: 104,195,338 (GRCm39) Y245H probably damaging Het
Nrap C T 19: 56,310,414 (GRCm39) R1563H probably damaging Het
Or7g34 T A 9: 19,478,369 (GRCm39) M101L probably benign Het
Or8b44 A C 9: 38,410,204 (GRCm39) K80Q probably damaging Het
Pde4b T A 4: 102,287,359 (GRCm39) I34N probably damaging Het
Pex11g A G 8: 3,515,875 (GRCm39) S53P probably damaging Het
Pole A T 5: 110,459,931 (GRCm39) K1112* probably null Het
Ppfia4 T G 1: 134,250,788 (GRCm39) D184A possibly damaging Het
Rpp30 T A 19: 36,079,251 (GRCm39) D216E probably benign Het
Sbno2 C T 10: 79,903,171 (GRCm39) A398T probably damaging Het
Sbp T A 17: 24,164,552 (GRCm39) S94T probably benign Het
Skp1 T G 11: 52,133,415 (GRCm39) D33E possibly damaging Het
Slc17a8 A G 10: 89,433,364 (GRCm39) W220R probably damaging Het
Slfn9 A T 11: 82,872,258 (GRCm39) M826K probably benign Het
Snx2 A G 18: 53,343,822 (GRCm39) K322E probably benign Het
Spata32 T A 11: 103,100,653 (GRCm39) N38I possibly damaging Het
Sycp1 T C 3: 102,726,218 (GRCm39) R969G probably damaging Het
Trgc2 T C 13: 19,489,301 (GRCm39) I144V probably benign Het
Trpc1 A G 9: 95,603,377 (GRCm39) L385S probably damaging Het
Vmn2r105 C T 17: 20,444,836 (GRCm39) probably null Het
Xrcc6 T A 15: 81,906,693 (GRCm39) D79E probably damaging Het
Zan A T 5: 137,426,744 (GRCm39) C2467* probably null Het
Zfp26 A G 9: 20,348,803 (GRCm39) V587A possibly damaging Het
Zfp553 C T 7: 126,835,875 (GRCm39) R477C possibly damaging Het
Other mutations in Ccdc122
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Ccdc122 APN 14 77,329,179 (GRCm39) missense probably benign 0.02
IGL01307:Ccdc122 APN 14 77,329,516 (GRCm39) splice site probably benign
IGL02585:Ccdc122 APN 14 77,330,202 (GRCm39) splice site probably benign
IGL03376:Ccdc122 APN 14 77,306,352 (GRCm39) missense probably damaging 1.00
R0724:Ccdc122 UTSW 14 77,329,517 (GRCm39) splice site probably benign
R0732:Ccdc122 UTSW 14 77,329,199 (GRCm39) missense probably damaging 0.99
R1123:Ccdc122 UTSW 14 77,305,351 (GRCm39) missense probably damaging 1.00
R1528:Ccdc122 UTSW 14 77,305,379 (GRCm39) missense possibly damaging 0.87
R1860:Ccdc122 UTSW 14 77,348,847 (GRCm39) missense probably damaging 1.00
R2072:Ccdc122 UTSW 14 77,306,391 (GRCm39) critical splice donor site probably null
R2074:Ccdc122 UTSW 14 77,306,391 (GRCm39) critical splice donor site probably null
R2075:Ccdc122 UTSW 14 77,306,391 (GRCm39) critical splice donor site probably null
R2421:Ccdc122 UTSW 14 77,329,103 (GRCm39) splice site probably benign
R2442:Ccdc122 UTSW 14 77,329,398 (GRCm39) missense possibly damaging 0.89
R4798:Ccdc122 UTSW 14 77,349,047 (GRCm39) utr 3 prime probably benign
R4973:Ccdc122 UTSW 14 77,305,381 (GRCm39) missense possibly damaging 0.92
R5487:Ccdc122 UTSW 14 77,329,119 (GRCm39) missense probably benign 0.31
R5630:Ccdc122 UTSW 14 77,330,216 (GRCm39) missense probably damaging 1.00
R6502:Ccdc122 UTSW 14 77,279,509 (GRCm39) splice site probably null
R6833:Ccdc122 UTSW 14 77,326,371 (GRCm39) critical splice acceptor site probably benign
R7585:Ccdc122 UTSW 14 77,329,139 (GRCm39) missense probably damaging 0.96
R7598:Ccdc122 UTSW 14 77,349,006 (GRCm39) missense probably benign 0.00
R7774:Ccdc122 UTSW 14 77,305,379 (GRCm39) missense probably benign 0.00
R8170:Ccdc122 UTSW 14 77,329,318 (GRCm39) missense probably benign 0.01
R9515:Ccdc122 UTSW 14 77,329,408 (GRCm39) missense
R9546:Ccdc122 UTSW 14 77,306,313 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAATAGCGACTATTGCTGAAGAAG -3'
(R):5'- ACCTTAGGCATCTGCACATTCAG -3'

Sequencing Primer
(F):5'- GCTAAAGAAACAGACAGGCAAATGC -3'
(R):5'- GGGCTTGACAAGTAGCACTTC -3'
Posted On 2016-10-26