Incidental Mutation 'R7006:Ccdc196'
ID 544731
Institutional Source Beutler Lab
Gene Symbol Ccdc196
Ensembl Gene ENSMUSG00000099418
Gene Name coiled-coil domain containing 196
Synonyms Gm6657
MMRRC Submission 045011-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R7006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 78241016-78255803 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 78255702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 177 (*177R)
Ref Sequence ENSEMBL: ENSMUSP00000147743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000188791] [ENSMUST00000211288]
AlphaFold A0A1B0GRJ3
Predicted Effect probably benign
Transcript: ENSMUST00000185497
Predicted Effect probably null
Transcript: ENSMUST00000188791
AA Change: *177R
Predicted Effect probably benign
Transcript: ENSMUST00000211288
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,447,853 (GRCm39) V41A probably benign Het
Adcy2 G A 13: 69,036,139 (GRCm39) T174M probably damaging Het
Ankfy1 T A 11: 72,631,290 (GRCm39) I412N probably benign Het
AW146154 T C 7: 41,130,648 (GRCm39) E156G possibly damaging Het
B4galnt1 T C 10: 127,005,700 (GRCm39) L267P probably benign Het
Bod1l T C 5: 41,989,895 (GRCm39) E276G probably damaging Het
Ccdc187 T C 2: 26,171,102 (GRCm39) T459A probably benign Het
Cep72 G A 13: 74,198,427 (GRCm39) Q311* probably null Het
Cir1 T C 2: 73,140,834 (GRCm39) Q45R probably damaging Het
Ciz1 T C 2: 32,261,127 (GRCm39) probably null Het
Crtap G T 9: 114,215,391 (GRCm39) A166E probably damaging Het
Dipk1a A G 5: 108,058,027 (GRCm39) V132A probably benign Het
Dmp1 A G 5: 104,360,188 (GRCm39) D288G probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Fmnl2 C A 2: 52,998,266 (GRCm39) Q544K probably benign Het
Gpsm1 T C 2: 26,212,572 (GRCm39) L72P probably damaging Het
Gys1 G A 7: 45,089,437 (GRCm39) A199T probably damaging Het
Kcnq3 A C 15: 65,892,165 (GRCm39) Y403* probably null Het
Kcp A C 6: 29,499,169 (GRCm39) Y298D probably damaging Het
Kif5c T C 2: 49,625,526 (GRCm39) S599P probably damaging Het
Krt20 A T 11: 99,328,587 (GRCm39) Y113N probably benign Het
Mcm8 T G 2: 132,665,181 (GRCm39) V191G probably damaging Het
Msr1 T A 8: 40,042,423 (GRCm39) D384V probably damaging Het
Mtpap A C 18: 4,380,873 (GRCm39) S184R possibly damaging Het
Npc1l1 G A 11: 6,167,731 (GRCm39) T1020M probably benign Het
Nphp4 A G 4: 152,573,259 (GRCm39) T66A probably benign Het
Or1o3 T A 17: 37,573,625 (GRCm39) *310L probably null Het
Or4f14 C A 2: 111,742,601 (GRCm39) V225L probably benign Het
Or8h10 G A 2: 86,808,303 (GRCm39) T279I probably damaging Het
Or8k18 T A 2: 86,085,572 (GRCm39) Q155L probably benign Het
Phf11d G T 14: 59,590,823 (GRCm39) T178K probably benign Het
Ppm1d A G 11: 85,227,977 (GRCm39) K298E possibly damaging Het
Rab2b A T 14: 52,503,690 (GRCm39) I144K probably benign Het
Stoml1 A G 9: 58,167,523 (GRCm39) D5G probably damaging Het
Styxl2 T C 1: 165,926,663 (GRCm39) N983S probably benign Het
Tanc1 T C 2: 59,626,188 (GRCm39) V515A probably damaging Het
Tas1r3 A G 4: 155,947,361 (GRCm39) V108A possibly damaging Het
Tifab T C 13: 56,324,059 (GRCm39) Y128C probably benign Het
Tmc6 G T 11: 117,665,083 (GRCm39) R397S probably damaging Het
Tnpo3 C T 6: 29,589,162 (GRCm39) A63T probably damaging Het
Trgc4 T A 13: 19,528,995 (GRCm39) probably benign Het
Usp16 G T 16: 87,268,724 (GRCm39) C284F probably damaging Het
Wipf1 T C 2: 73,267,441 (GRCm39) D319G probably damaging Het
Xpnpep3 T A 15: 81,326,649 (GRCm39) W347R probably damaging Het
Zfp180 G T 7: 23,804,537 (GRCm39) E319* probably null Het
Other mutations in Ccdc196
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5399:Ccdc196 UTSW 12 78,244,227 (GRCm39) missense probably damaging 1.00
R6814:Ccdc196 UTSW 12 78,244,141 (GRCm39) missense probably damaging 1.00
R6872:Ccdc196 UTSW 12 78,244,141 (GRCm39) missense probably damaging 1.00
R6959:Ccdc196 UTSW 12 78,249,070 (GRCm39) missense probably damaging 0.99
R7899:Ccdc196 UTSW 12 78,244,196 (GRCm39) missense
R9573:Ccdc196 UTSW 12 78,244,098 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AGTCAAGAGCTCTATTGTAAGCAAC -3'
(R):5'- TGCTTAGGGCCAAAATGTGC -3'

Sequencing Primer
(F):5'- TTGTAAGCAACAATCCCAGCACTG -3'
(R):5'- TTAGGGCCAAAATGTGCAACATCTC -3'
Posted On 2019-05-13