Incidental Mutation 'R5510:Ccdc192'
ID 431192
Institutional Source Beutler Lab
Gene Symbol Ccdc192
Ensembl Gene ENSMUSG00000058925
Gene Name coiled-coil domain containing 192
Synonyms 1700011I03Rik
MMRRC Submission 043071-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5510 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 57666852-57864137 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 57671156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079738] [ENSMUST00000135806]
AlphaFold E9PYL8
Predicted Effect probably null
Transcript: ENSMUST00000079738
SMART Domains Protein: ENSMUSP00000078674
Gene: ENSMUSG00000058925

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

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 null
Transcript: ENSMUST00000135806
SMART Domains Protein: ENSMUSP00000115752
Gene: ENSMUSG00000058925

DomainStartEndE-ValueType
coiled coil region 68 151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153122
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.1%
Validation Efficiency 99% (91/92)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T G 3: 151,203,467 (GRCm39) I59R possibly damaging Het
Adgrv1 T A 13: 81,593,363 (GRCm39) D4208V probably damaging Het
Aimp2 A T 5: 143,843,347 (GRCm39) probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankib1 A G 5: 3,779,693 (GRCm39) V392A probably benign Het
Ap2b1 A G 11: 83,227,563 (GRCm39) probably null Het
Arsg A G 11: 109,418,700 (GRCm39) E232G probably benign Het
Axdnd1 A G 1: 156,162,920 (GRCm39) F144S probably benign Het
Bud13 T A 9: 46,203,498 (GRCm39) M111K probably damaging Het
Cav2 T C 6: 17,287,012 (GRCm39) F152S possibly damaging Het
Ccdc180 A G 4: 45,928,046 (GRCm39) T1194A probably damaging Het
Ccdc88c T C 12: 100,911,290 (GRCm39) K848R probably damaging Het
Ceacam15 A G 7: 16,406,024 (GRCm39) W176R probably damaging Het
Cenpf A T 1: 189,415,100 (GRCm39) D136E probably benign Het
Dclk2 T C 3: 86,813,344 (GRCm39) I201V possibly damaging Het
Defa24 T A 8: 22,224,612 (GRCm39) D20E probably damaging Het
Dgcr8 T C 16: 18,095,039 (GRCm39) N566D probably damaging Het
Dido1 C A 2: 180,326,966 (GRCm39) V386L probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dtx3 G A 10: 127,028,807 (GRCm39) P141S probably benign Het
Fmn1 T C 2: 113,426,714 (GRCm39) Y1144H probably damaging Het
Gabbr2 A G 4: 46,734,113 (GRCm39) L535P probably damaging Het
Gimap3 T A 6: 48,742,183 (GRCm39) E249V possibly damaging Het
Git2 A T 5: 114,881,835 (GRCm39) probably null Het
Gm4922 T C 10: 18,659,745 (GRCm39) T326A probably benign Het
Gsdmc2 T G 15: 63,700,045 (GRCm39) E242D probably benign Het
Hdgfl2 G A 17: 56,389,118 (GRCm39) G31S possibly damaging Het
Herc2 A T 7: 55,856,519 (GRCm39) I3956F probably damaging Het
Hsf2bp G A 17: 32,165,721 (GRCm39) R134C unknown Het
Igf1r G C 7: 67,843,107 (GRCm39) R739S probably benign Het
Igkv4-51 T C 6: 69,658,443 (GRCm39) E102G probably damaging Het
Kif1a T G 1: 92,969,414 (GRCm39) I1156L possibly damaging Het
Kti12 T C 4: 108,705,821 (GRCm39) L245S probably damaging Het
Med17 A G 9: 15,181,700 (GRCm39) S17P probably benign Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mrps18b A G 17: 36,225,215 (GRCm39) probably benign Het
Ms4a8a A G 19: 11,056,828 (GRCm39) S85P probably benign Het
Msln T C 17: 25,968,847 (GRCm39) Q487R probably benign Het
Myh13 A G 11: 67,228,549 (GRCm39) N363S probably benign Het
Myo6 T C 9: 80,152,942 (GRCm39) F192L probably damaging Het
Nfkbiz T C 16: 55,634,383 (GRCm39) D688G probably damaging Het
Nsun4 C T 4: 115,908,974 (GRCm39) V529I possibly damaging Het
Or12d15 A T 17: 37,694,192 (GRCm39) M245L probably benign Het
Or1j16 G A 2: 36,530,975 (GRCm39) R308K probably benign Het
Or5p70 G A 7: 107,994,332 (GRCm39) A2T probably benign Het
Phf11a C A 14: 59,516,834 (GRCm39) C208F probably damaging Het
Plekhh2 G A 17: 84,874,275 (GRCm39) C520Y probably benign Het
Plxna4 C A 6: 32,155,293 (GRCm39) M1550I probably damaging Het
Pnpla6 A T 8: 3,571,397 (GRCm39) Y140F probably damaging Het
Ppp1r12a T A 10: 108,085,488 (GRCm39) S478T possibly damaging Het
Prkcz C A 4: 155,357,393 (GRCm39) probably null Het
Prss55 T A 14: 64,314,574 (GRCm39) M199L probably damaging Het
Qrich1 G A 9: 108,433,659 (GRCm39) V651I possibly damaging Het
Ralyl T C 3: 13,842,005 (GRCm39) V47A probably damaging Het
Raph1 A T 1: 60,562,105 (GRCm39) probably benign Het
Rgs12 T C 5: 35,123,383 (GRCm39) Y389H probably damaging Het
Sec24b C A 3: 129,834,544 (GRCm39) G82V probably damaging Het
Sema4a A G 3: 88,357,293 (GRCm39) probably null Het
Slc25a11 A T 11: 70,536,361 (GRCm39) W149R probably damaging Het
Slc2a7 T G 4: 150,244,551 (GRCm39) S340A probably benign Het
Slc32a1 T A 2: 158,456,716 (GRCm39) M457K probably damaging Het
Spata31d1e T C 13: 59,890,234 (GRCm39) probably null Het
Spint4 C T 2: 164,542,812 (GRCm39) T135M probably damaging Het
Sult2a2 A C 7: 13,472,228 (GRCm39) N142H probably damaging Het
Tbc1d1 G A 5: 64,490,738 (GRCm39) G863D probably damaging Het
Tmem156 G A 5: 65,232,917 (GRCm39) T151M probably benign Het
Trip12 T C 1: 84,746,401 (GRCm39) Q459R probably damaging Het
Vmn2r116 G A 17: 23,605,095 (GRCm39) C136Y probably damaging Het
Vmn2r51 C T 7: 9,836,545 (GRCm39) V79M possibly damaging Het
Vmn2r67 A T 7: 84,801,023 (GRCm39) D304E probably benign Het
Wdr93 T A 7: 79,399,779 (GRCm39) F123I probably damaging Het
Zfp672 A T 11: 58,207,456 (GRCm39) C288* probably null Het
Zp1 T C 19: 10,896,769 (GRCm39) Y90C 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
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
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'- ACCTATTCAATGTGAGATCTCTCCC -3'
(R):5'- AATGTGACATCCATGACGGG -3'

Sequencing Primer
(F):5'- CCCTCTCTGTATGTACGAATGTGAG -3'
(R):5'- TGGGGAAGGCTACACACTATATCAC -3'
Posted On 2016-10-05