Incidental Mutation 'R1923:Ccdc192'
ID 213247
Institutional Source Beutler Lab
Gene Symbol Ccdc192
Ensembl Gene ENSMUSG00000058925
Gene Name coiled-coil domain containing 192
Synonyms 1700011I03Rik
MMRRC Submission 039941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R1923 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 57666852-57864137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57666959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 12 (D12V)
Ref Sequence ENSEMBL: ENSMUSP00000115752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079738] [ENSMUST00000135806]
AlphaFold E9PYL8
Predicted Effect probably damaging
Transcript: ENSMUST00000079738
AA Change: D12V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078674
Gene: ENSMUSG00000058925
AA Change: D12V

DomainStartEndE-ValueType
coiled coil region 68 177 N/A INTRINSIC
coiled coil region 220 260 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000127130
AA Change: D2V
SMART Domains Protein: ENSMUSP00000117563
Gene: ENSMUSG00000058925
AA Change: D2V

DomainStartEndE-ValueType
low complexity region 67 79 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133147
Predicted Effect probably damaging
Transcript: ENSMUST00000135806
AA Change: D12V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115752
Gene: ENSMUSG00000058925
AA Change: D12V

DomainStartEndE-ValueType
coiled coil region 68 151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153122
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,743 (GRCm39) E163G probably damaging Het
4921513D11Rik A G 17: 79,935,562 (GRCm39) probably benign Het
Acox3 T A 5: 35,749,459 (GRCm39) F195I possibly damaging Het
Acsl6 T C 11: 54,216,417 (GRCm39) Y135H probably damaging Het
Ankhd1 C A 18: 36,781,083 (GRCm39) A2045E probably benign Het
Ap5z1 A G 5: 142,458,096 (GRCm39) H423R probably benign Het
Arsk T A 13: 76,214,985 (GRCm39) probably benign Het
Bpi G A 2: 158,103,083 (GRCm39) G76D probably damaging Het
Carmil3 A G 14: 55,739,861 (GRCm39) T983A probably damaging Het
Chmp2b A T 16: 65,342,213 (GRCm39) M125K possibly damaging Het
Clca3a2 T A 3: 144,511,491 (GRCm39) I26L probably damaging Het
Cubn T C 2: 13,315,337 (GRCm39) Y3032C probably damaging Het
Ehbp1 T A 11: 22,101,850 (GRCm39) D226V probably damaging Het
Enpp6 A T 8: 47,535,541 (GRCm39) D362V probably damaging Het
Fam53b A G 7: 132,317,521 (GRCm39) S374P probably damaging Het
Fmn1 T C 2: 113,260,066 (GRCm39) probably benign Het
Fndc7 C T 3: 108,784,003 (GRCm39) R202H probably benign Het
Frmd4b T G 6: 97,265,415 (GRCm39) D951A probably benign Het
Git2 A G 5: 114,877,162 (GRCm39) Y107H probably damaging Het
Gm11595 A T 11: 99,663,365 (GRCm39) V105E unknown Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrriq4 C A 3: 30,713,242 (GRCm39) Q448K probably benign Het
Ly6g5c A G 17: 35,330,863 (GRCm39) I128M possibly damaging Het
Mroh9 T A 1: 162,903,860 (GRCm39) S51C probably damaging Het
Myh3 A G 11: 66,970,828 (GRCm39) S2G probably benign Het
Nat8f4 A G 6: 85,878,497 (GRCm39) Y9H probably damaging Het
Negr1 T C 3: 156,267,836 (GRCm39) V2A probably benign Het
Or2y1 C T 11: 49,386,131 (GRCm39) T257I probably damaging Het
Or7g19 C T 9: 18,856,781 (GRCm39) T279I probably benign Het
Or8k32 T G 2: 86,368,857 (GRCm39) Y132S probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Pdgfra C A 5: 75,324,394 (GRCm39) T83K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Retreg1 A G 15: 25,969,924 (GRCm39) D109G probably damaging Het
Rgs12 T A 5: 35,189,613 (GRCm39) W674R probably damaging Het
Rgs18 T C 1: 144,631,818 (GRCm39) D98G possibly damaging Het
Rnf146 A G 10: 29,223,715 (GRCm39) F57S probably damaging Het
Skic3 T A 13: 76,282,889 (GRCm39) V737D probably damaging Het
Slc22a20 C A 19: 6,021,464 (GRCm39) V513L probably benign Het
Stox2 G T 8: 47,646,661 (GRCm39) F266L probably damaging Het
Tbx21 C T 11: 96,990,863 (GRCm39) V272M probably damaging Het
Tmc7 A G 7: 118,144,850 (GRCm39) F570S probably benign Het
Tmem236 T C 2: 14,224,117 (GRCm39) I302T probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm3 T C 19: 22,862,776 (GRCm39) L506S probably damaging Het
Uggt1 T C 1: 36,218,694 (GRCm39) I78V probably damaging Het
Xpo4 A T 14: 57,828,328 (GRCm39) V844D probably damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Other mutations in Ccdc192
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Ccdc192 APN 18 57,727,158 (GRCm39) missense probably damaging 0.98
IGL01646:Ccdc192 APN 18 57,800,417 (GRCm39) nonsense probably null
R0115:Ccdc192 UTSW 18 57,727,214 (GRCm39) splice site probably benign
R0285:Ccdc192 UTSW 18 57,666,937 (GRCm39) missense probably damaging 0.99
R1087:Ccdc192 UTSW 18 57,863,870 (GRCm39) missense probably damaging 0.96
R4927:Ccdc192 UTSW 18 57,863,888 (GRCm39) nonsense probably null
R5133:Ccdc192 UTSW 18 57,697,041 (GRCm39) missense possibly damaging 0.92
R5508:Ccdc192 UTSW 18 57,671,156 (GRCm39) splice site probably null
R5509:Ccdc192 UTSW 18 57,671,156 (GRCm39) splice site probably null
R5510:Ccdc192 UTSW 18 57,671,156 (GRCm39) splice site probably null
R5511:Ccdc192 UTSW 18 57,671,156 (GRCm39) splice site probably null
R6629:Ccdc192 UTSW 18 57,863,852 (GRCm39) missense possibly damaging 0.53
R7089:Ccdc192 UTSW 18 57,725,059 (GRCm39) missense probably benign 0.11
R7545:Ccdc192 UTSW 18 57,863,895 (GRCm39) missense probably damaging 0.98
R7700:Ccdc192 UTSW 18 57,696,388 (GRCm39) splice site probably null
R8045:Ccdc192 UTSW 18 57,863,991 (GRCm39) missense probably damaging 0.99
R8098:Ccdc192 UTSW 18 57,800,403 (GRCm39) missense probably benign 0.02
R8973:Ccdc192 UTSW 18 57,725,139 (GRCm39) missense possibly damaging 0.55
R9011:Ccdc192 UTSW 18 57,800,376 (GRCm39) missense possibly damaging 0.61
X0021:Ccdc192 UTSW 18 57,727,197 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCTGCATCTGACTTGTGAG -3'
(R):5'- AGGATGGGCGAGTGTATAATTC -3'

Sequencing Primer
(F):5'- TGAGATGTTTTGAGGGAAGCC -3'
(R):5'- CCTGTGATCTGGGATGACACAATC -3'
Posted On 2014-07-14