Incidental Mutation 'R7089:Ccdc192'
ID 550121
Institutional Source Beutler Lab
Gene Symbol Ccdc192
Ensembl Gene ENSMUSG00000058925
Gene Name coiled-coil domain containing 192
Synonyms 1700011I03Rik
MMRRC Submission 045183-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R7089 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 57666852-57864137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57725059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 96 (T96I)
Ref Sequence ENSEMBL: ENSMUSP00000078674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079738] [ENSMUST00000135806]
AlphaFold E9PYL8
Predicted Effect probably benign
Transcript: ENSMUST00000079738
AA Change: T96I

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000078674
Gene: ENSMUSG00000058925
AA Change: T96I

DomainStartEndE-ValueType
coiled coil region 68 177 N/A INTRINSIC
coiled coil region 220 260 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000114519
Gene: ENSMUSG00000058925
AA Change: T78I

DomainStartEndE-ValueType
low complexity region 14 19 N/A INTRINSIC
coiled coil region 50 159 N/A INTRINSIC
coiled coil region 202 242 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000135806
AA Change: T96I

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115752
Gene: ENSMUSG00000058925
AA Change: T96I

DomainStartEndE-ValueType
coiled coil region 68 151 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,226,927 (GRCm39) V494A probably benign Het
1700017B05Rik A T 9: 57,166,041 (GRCm39) L111Q probably damaging Het
Adgrf4 T G 17: 42,977,424 (GRCm39) I640L possibly damaging Het
Afdn T G 17: 14,111,074 (GRCm39) probably null Het
Ammecr1l A T 18: 31,894,877 (GRCm39) probably benign Het
Aox1 A T 1: 58,375,808 (GRCm39) Y879F probably benign Het
Arhgap45 G A 10: 79,862,181 (GRCm39) probably null Het
Arpp21 G T 9: 111,955,514 (GRCm39) H542N probably benign Het
Cdt1 G A 8: 123,298,719 (GRCm39) R452Q probably damaging Het
Clcn7 C T 17: 25,372,667 (GRCm39) H149Y Het
Clpp T G 17: 57,297,421 (GRCm39) W32G probably benign Het
Dnmt1 G T 9: 20,819,785 (GRCm39) L1572M probably damaging Het
Drd3 G T 16: 43,627,741 (GRCm39) R128S probably damaging Het
Elmo2 A T 2: 165,146,849 (GRCm39) F243I possibly damaging Het
Endou G A 15: 97,618,126 (GRCm39) P128L probably benign Het
Fat3 A G 9: 15,908,214 (GRCm39) M2596T probably benign Het
Fbxl16 A G 17: 26,035,703 (GRCm39) K100R probably benign Het
Fbxo10 A G 4: 45,062,230 (GRCm39) S99P possibly damaging Het
Fez1 A T 9: 36,778,999 (GRCm39) R225S probably benign Het
Gm14326 A T 2: 177,588,464 (GRCm39) H177Q probably damaging Het
Gm32742 T A 9: 51,054,546 (GRCm39) M1360L probably benign Het
Hspg2 T C 4: 137,271,677 (GRCm39) V2481A possibly damaging Het
Ifnl3 A G 7: 28,223,283 (GRCm39) K101E probably benign Het
Il15 A T 8: 83,064,204 (GRCm39) S77R probably damaging Het
Ints13 T C 6: 146,476,216 (GRCm39) D95G probably damaging Het
Kcmf1 G A 6: 72,819,929 (GRCm39) P357S probably benign Het
Kcmf1 G T 6: 72,825,289 (GRCm39) T268K probably benign Het
Kmt2d A T 15: 98,748,153 (GRCm39) I3057N unknown Het
Lgi2 A G 5: 52,695,832 (GRCm39) F376L probably damaging Het
Lrig3 T G 10: 125,832,993 (GRCm39) L289R probably damaging Het
Mafk A G 5: 139,785,876 (GRCm39) S25G probably benign Het
Mpz T C 1: 170,987,204 (GRCm39) probably null Het
Nalcn A C 14: 123,515,761 (GRCm39) I1680R probably benign Het
Or13d1 C T 4: 52,971,470 (GRCm39) P283L probably damaging Het
Or5ak24 T A 2: 85,260,902 (GRCm39) K90N probably benign Het
Or5g26 C T 2: 85,494,518 (GRCm39) V87M possibly damaging Het
Or5p62 A T 7: 107,771,701 (GRCm39) N83K probably benign Het
Otof A C 5: 30,528,912 (GRCm39) I1827S possibly damaging Het
Oxgr1 A G 14: 120,259,614 (GRCm39) Y198H probably damaging Het
P3h2 T A 16: 25,784,559 (GRCm39) N645I probably damaging Het
Pbld2 A G 10: 62,889,691 (GRCm39) T158A probably benign Het
Pdgfrb C T 18: 61,206,315 (GRCm39) R608C probably damaging Het
Pdia5 T C 16: 35,228,049 (GRCm39) T408A probably benign Het
Pik3cg A G 12: 32,226,845 (GRCm39) V1014A probably benign Het
Prpf8 A G 11: 75,399,374 (GRCm39) T2180A probably damaging Het
Rabgap1l A T 1: 160,551,742 (GRCm39) Y245* probably null Het
Rerg T C 6: 137,044,033 (GRCm39) T28A possibly damaging Het
Rhcg A G 7: 79,249,216 (GRCm39) I335T probably damaging Het
Rmnd1 C T 10: 4,353,873 (GRCm39) V78I probably damaging Het
Ryr2 A C 13: 11,664,662 (GRCm39) V3547G probably benign Het
Scnn1a C A 6: 125,314,770 (GRCm39) Q324K probably benign Het
Serpinb6e G A 13: 34,016,698 (GRCm39) T345I probably damaging Het
Smchd1 T C 17: 71,668,955 (GRCm39) T1687A probably benign Het
Smim45 A T 15: 82,136,774 (GRCm39) probably benign Het
Speer4f2 A C 5: 17,581,661 (GRCm39) H201P Het
Spef2 G A 15: 9,725,257 (GRCm39) R167C probably damaging Het
Srp68 A G 11: 116,162,733 (GRCm39) probably null Het
Tbc1d14 A T 5: 36,669,884 (GRCm39) F455I probably benign Het
Tet3 A G 6: 83,432,006 (GRCm39) V10A possibly damaging Het
Tlr3 A T 8: 45,850,810 (GRCm39) S696T probably benign Het
Tmem63b T C 17: 45,978,709 (GRCm39) N300S probably benign Het
Tmprss11g T C 5: 86,637,150 (GRCm39) I328M probably damaging Het
Tpm3 C T 3: 89,980,029 (GRCm39) probably benign Het
Trim28 T A 7: 12,758,833 (GRCm39) L63Q probably damaging Het
Unc5b G A 10: 60,613,265 (GRCm39) R324C probably damaging Het
Vmn1r236 T A 17: 21,507,204 (GRCm39) N107K possibly damaging Het
Vmn2r88 A G 14: 51,656,100 (GRCm39) T770A Het
Zcchc2 C A 1: 105,958,211 (GRCm39) P894Q probably damaging Het
Zfhx2 A G 14: 55,303,229 (GRCm39) V1585A probably benign 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
R1923:Ccdc192 UTSW 18 57,666,959 (GRCm39) missense probably damaging 0.99
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
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'- ATTGCTTGTCCTTTGTAGAGAACG -3'
(R):5'- AGTGCTTGTTACCACTGAGTG -3'

Sequencing Primer
(F):5'- GAACGTTGCAGAAGCCCTTTATG -3'
(R):5'- CCAGCCGTTTGAATGAGAACTTC -3'
Posted On 2019-05-15