Incidental Mutation 'R7807:Ccdc112'
ID 600898
Institutional Source Beutler Lab
Gene Symbol Ccdc112
Ensembl Gene ENSMUSG00000071855
Gene Name coiled-coil domain containing 112
Synonyms 8430438M01Rik
MMRRC Submission 045862-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R7807 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 46415218-46444995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46423826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 304 (K304I)
Ref Sequence ENSEMBL: ENSMUSP00000072614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072835]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000072835
AA Change: K304I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072614
Gene: ENSMUSG00000071855
AA Change: K304I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
coiled coil region 111 199 N/A INTRINSIC
coiled coil region 300 332 N/A INTRINSIC
low complexity region 345 355 N/A INTRINSIC
coiled coil region 362 483 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C A 9: 21,447,276 (GRCm39) T146K probably benign Het
Alms1 T A 6: 85,599,958 (GRCm39) S1595T possibly damaging Het
Ankrd44 A T 1: 54,831,635 (GRCm39) I56N probably damaging Het
Anln C A 9: 22,272,176 (GRCm39) V648F probably damaging Het
Arhgap29 A G 3: 121,807,981 (GRCm39) D1053G probably benign Het
Baalc T C 15: 38,797,412 (GRCm39) S68P probably benign Het
Begain T C 12: 109,004,856 (GRCm39) D52G probably damaging Het
Blmh A G 11: 76,837,040 (GRCm39) I41V probably benign Het
Bpifc T A 10: 85,812,114 (GRCm39) I365F possibly damaging Het
C2 G T 17: 35,095,347 (GRCm39) S199R possibly damaging Het
Ccbe1 T A 18: 66,199,828 (GRCm39) H298L probably damaging Het
Ccdc15 T C 9: 37,226,678 (GRCm39) E432G probably benign Het
Cdh13 T A 8: 119,010,594 (GRCm39) M1K probably null Het
Cipc T C 12: 87,008,899 (GRCm39) S253P possibly damaging Het
Clcn1 A G 6: 42,287,282 (GRCm39) probably null Het
Clock A T 5: 76,390,982 (GRCm39) N273K probably benign Het
Cyp19a1 T C 9: 54,074,126 (GRCm39) D476G probably benign Het
Dnaaf9 T C 2: 130,552,785 (GRCm39) K1092E probably damaging Het
Dnah7b A G 1: 46,253,527 (GRCm39) I1811V probably benign Het
Fat1 C A 8: 45,495,010 (GRCm39) T4091K probably damaging Het
Gm10340 T A 14: 14,826,724 (GRCm39) N64K probably damaging Het
Hectd1 G A 12: 51,792,171 (GRCm39) R2523C probably damaging Het
Hgf A G 5: 16,782,009 (GRCm39) H244R probably damaging Het
Hgs G T 11: 120,370,760 (GRCm39) A567S probably damaging Het
Igdcc4 T C 9: 65,041,077 (GRCm39) V1036A probably benign Het
Keg1 G A 19: 12,691,998 (GRCm39) probably null Het
Klhl8 A T 5: 104,023,932 (GRCm39) L156Q probably damaging Het
Lmln T C 16: 32,927,501 (GRCm39) Y521H probably benign Het
Lrrc7 A G 3: 157,866,124 (GRCm39) S1206P probably damaging Het
Mad1l1 T A 5: 140,074,541 (GRCm39) I550F probably benign Het
Marf1 C T 16: 13,971,753 (GRCm39) W28* probably null Het
Mfsd11 T G 11: 116,754,733 (GRCm39) S215A probably benign Het
Mpped2 C A 2: 106,575,085 (GRCm39) H57N possibly damaging Het
Mslnl A G 17: 25,965,751 (GRCm39) M542V probably benign Het
Myh6 G T 14: 55,179,897 (GRCm39) H1903Q probably damaging Het
Neo1 T C 9: 58,897,777 (GRCm39) T60A probably benign Het
Npm2 T A 14: 70,889,947 (GRCm39) probably null Het
Or5b123 C A 19: 13,597,285 (GRCm39) T210K probably damaging Het
Or5d20-ps1 T C 2: 87,931,909 (GRCm39) S141G probably benign Het
Or7a39 T A 10: 78,715,043 (GRCm39) S12R probably benign Het
Pax9 A T 12: 56,743,850 (GRCm39) I166F possibly damaging Het
Pcsk9 A G 4: 106,321,092 (GRCm39) S6P possibly damaging Het
Pikfyve A G 1: 65,309,101 (GRCm39) Y1893C probably damaging Het
Pirb T C 7: 3,722,864 (GRCm39) T43A possibly damaging Het
Pou3f1 A G 4: 124,552,074 (GRCm39) D192G possibly damaging Het
Pus3 C G 9: 35,478,021 (GRCm39) R418G probably damaging Het
Rexo1 C T 10: 80,385,970 (GRCm39) V363I probably benign Het
Sdcbp A G 4: 6,393,688 (GRCm39) T269A probably damaging Het
Sele T C 1: 163,881,462 (GRCm39) V523A probably benign Het
Serpinb8 T A 1: 107,532,457 (GRCm39) M183K probably damaging Het
Sh2d4a T G 8: 68,735,033 (GRCm39) S51A probably benign Het
Siglec15 A G 18: 78,090,696 (GRCm39) S201P probably damaging Het
Slc10a5 C T 3: 10,400,529 (GRCm39) V44I probably benign Het
Slc16a13 A G 11: 70,111,388 (GRCm39) V39A probably damaging Het
Slc25a13 G A 6: 6,117,164 (GRCm39) R184W probably damaging Het
Slc35f5 T A 1: 125,512,278 (GRCm39) D359E probably damaging Het
Slc3a1 A G 17: 85,371,371 (GRCm39) E641G probably benign Het
Slf1 T C 13: 77,194,823 (GRCm39) D834G probably damaging Het
Spata31f1e A C 4: 42,793,885 (GRCm39) H82Q probably benign Het
Stim1 T C 7: 102,076,348 (GRCm39) I433T probably damaging Het
Stra6 T A 9: 58,057,444 (GRCm39) I418K probably damaging Het
Tanc2 A G 11: 105,758,480 (GRCm39) N747S probably benign Het
Tet2 T C 3: 133,192,302 (GRCm39) T711A possibly damaging Het
Trpm6 T C 19: 18,807,220 (GRCm39) I988T probably benign Het
Ttc41 T A 10: 86,612,495 (GRCm39) I1256N probably benign Het
Uba2 T C 7: 33,862,638 (GRCm39) D100G possibly damaging Het
Vmn1r43 A G 6: 89,847,219 (GRCm39) I89T probably benign Het
Vmn2r58 T A 7: 41,521,910 (GRCm39) Y62F probably benign Het
Ylpm1 C T 12: 85,060,855 (GRCm39) Q428* probably null Het
Zcrb1 T C 15: 93,289,002 (GRCm39) D88G probably damaging Het
Zmym1 A C 4: 126,941,667 (GRCm39) I907S probably damaging Het
Other mutations in Ccdc112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Ccdc112 APN 18 46,426,511 (GRCm39) missense possibly damaging 0.81
IGL02860:Ccdc112 APN 18 46,420,509 (GRCm39) missense probably benign 0.00
R0546:Ccdc112 UTSW 18 46,424,139 (GRCm39) missense possibly damaging 0.73
R0566:Ccdc112 UTSW 18 46,423,877 (GRCm39) missense probably damaging 0.97
R1815:Ccdc112 UTSW 18 46,424,173 (GRCm39) missense possibly damaging 0.85
R1847:Ccdc112 UTSW 18 46,420,821 (GRCm39) missense possibly damaging 0.80
R1853:Ccdc112 UTSW 18 46,418,767 (GRCm39) missense probably benign 0.07
R2011:Ccdc112 UTSW 18 46,420,499 (GRCm39) missense probably damaging 1.00
R3787:Ccdc112 UTSW 18 46,432,365 (GRCm39) missense probably benign 0.03
R4519:Ccdc112 UTSW 18 46,420,613 (GRCm39) missense possibly damaging 0.94
R4795:Ccdc112 UTSW 18 46,420,739 (GRCm39) missense probably benign 0.20
R4873:Ccdc112 UTSW 18 46,429,356 (GRCm39) missense probably damaging 1.00
R4875:Ccdc112 UTSW 18 46,429,356 (GRCm39) missense probably damaging 1.00
R7208:Ccdc112 UTSW 18 46,420,698 (GRCm39) missense probably damaging 1.00
R7849:Ccdc112 UTSW 18 46,429,390 (GRCm39) missense probably benign 0.30
R8060:Ccdc112 UTSW 18 46,426,529 (GRCm39) missense probably damaging 1.00
R8104:Ccdc112 UTSW 18 46,420,720 (GRCm39) missense probably benign 0.37
R8886:Ccdc112 UTSW 18 46,444,826 (GRCm39) missense unknown
R9005:Ccdc112 UTSW 18 46,429,455 (GRCm39) missense probably damaging 1.00
R9433:Ccdc112 UTSW 18 46,424,040 (GRCm39) missense probably benign 0.44
R9708:Ccdc112 UTSW 18 46,444,780 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TACAGAGCACAAGTCTCCTAGC -3'
(R):5'- GAGGACGCTTCCAGAACAAG -3'

Sequencing Primer
(F):5'- GAGCACAAGTCTCCTAGCTTTTCAAC -3'
(R):5'- CGCTTCCAGAACAAGTGGTAG -3'
Posted On 2019-11-26