Incidental Mutation 'R5532:Ccdc146'
ID 436212
Institutional Source Beutler Lab
Gene Symbol Ccdc146
Ensembl Gene ENSMUSG00000064280
Gene Name coiled-coil domain containing 146
Synonyms 4930528G09Rik
MMRRC Submission 043090-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5532 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 21497959-21629675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21510329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 561 (V561A)
Ref Sequence ENSEMBL: ENSMUSP00000110900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115245] [ENSMUST00000198930]
AlphaFold E9Q9F7
Predicted Effect probably benign
Transcript: ENSMUST00000115245
AA Change: V561A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: V561A

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 120 130 N/A INTRINSIC
coiled coil region 194 320 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
coiled coil region 438 477 N/A INTRINSIC
coiled coil region 549 595 N/A INTRINSIC
coiled coil region 617 663 N/A INTRINSIC
coiled coil region 690 720 N/A INTRINSIC
coiled coil region 770 793 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199553
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,530,293 (GRCm39) probably null Het
Adsl C G 15: 80,848,110 (GRCm39) P118A probably damaging Het
Ano6 C T 15: 95,860,122 (GRCm39) P748L probably damaging Het
Arhgap10 A T 8: 78,146,701 (GRCm39) N234K probably benign Het
Arhgap18 T A 10: 26,722,104 (GRCm39) I25K possibly damaging Het
AW551984 T C 9: 39,508,481 (GRCm39) Y345C probably damaging Het
Cenpv G A 11: 62,418,398 (GRCm39) T185M probably damaging Het
Fat2 T A 11: 55,153,163 (GRCm39) D3683V probably damaging Het
Galns T C 8: 123,311,765 (GRCm39) D415G possibly damaging Het
Gatad2a G A 8: 70,369,070 (GRCm39) T259M probably damaging Het
Gja8 T C 3: 96,827,648 (GRCm39) S5G probably benign Het
Ifi209 T C 1: 173,466,542 (GRCm39) S125P probably damaging Het
Iigp1c A G 18: 60,379,142 (GRCm39) I226V probably benign Het
Il12rb2 G A 6: 67,269,246 (GRCm39) R856W probably damaging Het
Kcnq3 A T 15: 65,869,622 (GRCm39) Y605* probably null Het
Klk1b16 T C 7: 43,790,950 (GRCm39) S251P probably benign Het
Map2 A G 1: 66,453,779 (GRCm39) N890D probably damaging Het
Map4 T A 9: 109,863,746 (GRCm39) S324T probably benign Het
Mmp28 T C 11: 83,333,684 (GRCm39) D419G probably damaging Het
Mtnr1b A G 9: 15,774,210 (GRCm39) L283P probably benign Het
Ndufb7 T A 8: 84,298,063 (GRCm39) Y95N probably damaging Het
Nfrkb C T 9: 31,309,075 (GRCm39) R280W probably damaging Het
Npc1l1 A G 11: 6,174,245 (GRCm39) Y687H probably damaging Het
Or6f1 A C 7: 85,970,879 (GRCm39) F94V possibly damaging Het
Or8b40 C T 9: 38,027,923 (GRCm39) T277I probably benign Het
Or8g51 T C 9: 38,608,943 (GRCm39) T240A probably damaging Het
Or8h9 T A 2: 86,788,924 (GRCm39) R293* probably null Het
Pabpc4l T C 3: 46,401,044 (GRCm39) D200G probably benign Het
Plekhg6 T C 6: 125,349,514 (GRCm39) E361G possibly damaging Het
Pramel31 A T 4: 144,090,061 (GRCm39) D367V probably damaging Het
Rictor A G 15: 6,819,046 (GRCm39) Y1423C probably damaging Het
Rsf1 G A 7: 97,329,902 (GRCm39) D1143N probably damaging Het
Spsb4 C T 9: 96,877,627 (GRCm39) probably null Het
Strada G T 11: 106,061,843 (GRCm39) A136E probably damaging Het
Syce2 A T 8: 85,610,131 (GRCm39) Q73L probably damaging Het
Teddm2 A T 1: 153,726,130 (GRCm39) V195D probably benign Het
Tex36 A T 7: 133,203,712 (GRCm39) N12K probably benign Het
Ubtf A G 11: 102,199,785 (GRCm39) S484P probably benign Het
Ufd1 T G 16: 18,636,680 (GRCm39) L66R probably damaging Het
Vmn2r74 C T 7: 85,601,197 (GRCm39) A814T probably benign Het
Vmn2r98 T C 17: 19,287,645 (GRCm39) S493P possibly damaging Het
Xrcc1 T A 7: 24,267,353 (GRCm39) probably null Het
Zfp277 A C 12: 40,385,308 (GRCm39) C305G probably damaging Het
Zfp998 A T 13: 66,579,740 (GRCm39) C248S probably damaging Het
Other mutations in Ccdc146
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Ccdc146 APN 5 21,506,420 (GRCm39) missense possibly damaging 0.93
IGL01066:Ccdc146 APN 5 21,524,540 (GRCm39) missense probably benign 0.03
IGL01399:Ccdc146 APN 5 21,499,611 (GRCm39) missense possibly damaging 0.75
IGL01866:Ccdc146 APN 5 21,538,052 (GRCm39) missense probably damaging 0.99
IGL01868:Ccdc146 APN 5 21,538,052 (GRCm39) missense probably damaging 0.99
IGL01869:Ccdc146 APN 5 21,521,837 (GRCm39) missense probably benign 0.25
IGL02213:Ccdc146 APN 5 21,521,902 (GRCm39) missense probably benign 0.10
IGL02338:Ccdc146 APN 5 21,524,604 (GRCm39) unclassified probably benign
IGL02553:Ccdc146 APN 5 21,502,631 (GRCm39) missense probably benign 0.00
IGL02838:Ccdc146 APN 5 21,502,567 (GRCm39) missense probably benign 0.01
Starcraft UTSW 5 21,604,612 (GRCm39) splice site probably null
R0051:Ccdc146 UTSW 5 21,521,902 (GRCm39) missense possibly damaging 0.58
R0051:Ccdc146 UTSW 5 21,521,902 (GRCm39) missense possibly damaging 0.58
R0055:Ccdc146 UTSW 5 21,502,004 (GRCm39) splice site probably null
R0115:Ccdc146 UTSW 5 21,527,754 (GRCm39) missense possibly damaging 0.87
R0373:Ccdc146 UTSW 5 21,524,543 (GRCm39) missense probably benign 0.00
R1251:Ccdc146 UTSW 5 21,498,370 (GRCm39) missense probably benign 0.00
R1355:Ccdc146 UTSW 5 21,526,240 (GRCm39) missense probably damaging 1.00
R1405:Ccdc146 UTSW 5 21,604,730 (GRCm39) missense probably benign 0.00
R1405:Ccdc146 UTSW 5 21,604,730 (GRCm39) missense probably benign 0.00
R1470:Ccdc146 UTSW 5 21,524,564 (GRCm39) missense probably damaging 1.00
R1470:Ccdc146 UTSW 5 21,524,564 (GRCm39) missense probably damaging 1.00
R1556:Ccdc146 UTSW 5 21,535,551 (GRCm39) missense probably damaging 1.00
R1613:Ccdc146 UTSW 5 21,499,522 (GRCm39) missense probably damaging 0.99
R1872:Ccdc146 UTSW 5 21,506,288 (GRCm39) missense probably benign 0.01
R2271:Ccdc146 UTSW 5 21,604,719 (GRCm39) missense probably benign 0.15
R2329:Ccdc146 UTSW 5 21,513,610 (GRCm39) critical splice donor site probably null
R2518:Ccdc146 UTSW 5 21,510,526 (GRCm39) missense probably benign
R2680:Ccdc146 UTSW 5 21,510,267 (GRCm39) missense possibly damaging 0.58
R3116:Ccdc146 UTSW 5 21,521,953 (GRCm39) missense probably benign 0.02
R3121:Ccdc146 UTSW 5 21,499,591 (GRCm39) missense possibly damaging 0.56
R3122:Ccdc146 UTSW 5 21,499,591 (GRCm39) missense possibly damaging 0.56
R3159:Ccdc146 UTSW 5 21,604,790 (GRCm39) missense unknown
R3436:Ccdc146 UTSW 5 21,502,003 (GRCm39) missense possibly damaging 0.92
R4043:Ccdc146 UTSW 5 21,521,941 (GRCm39) missense probably benign 0.14
R4226:Ccdc146 UTSW 5 21,527,756 (GRCm39) missense probably benign 0.09
R4493:Ccdc146 UTSW 5 21,508,191 (GRCm39) missense possibly damaging 0.92
R5013:Ccdc146 UTSW 5 21,538,036 (GRCm39) missense probably damaging 1.00
R5024:Ccdc146 UTSW 5 21,604,612 (GRCm39) splice site probably null
R5051:Ccdc146 UTSW 5 21,508,081 (GRCm39) missense possibly damaging 0.77
R5384:Ccdc146 UTSW 5 21,513,711 (GRCm39) missense probably benign 0.37
R5906:Ccdc146 UTSW 5 21,506,350 (GRCm39) missense possibly damaging 0.88
R5927:Ccdc146 UTSW 5 21,513,619 (GRCm39) nonsense probably null
R5951:Ccdc146 UTSW 5 21,524,577 (GRCm39) missense possibly damaging 0.84
R5978:Ccdc146 UTSW 5 21,521,966 (GRCm39) missense probably benign 0.02
R5990:Ccdc146 UTSW 5 21,523,180 (GRCm39) missense probably benign 0.41
R6123:Ccdc146 UTSW 5 21,510,595 (GRCm39) missense possibly damaging 0.93
R6217:Ccdc146 UTSW 5 21,522,900 (GRCm39) splice site probably null
R6276:Ccdc146 UTSW 5 21,506,338 (GRCm39) missense probably damaging 0.98
R6665:Ccdc146 UTSW 5 21,508,092 (GRCm39) missense probably damaging 1.00
R7077:Ccdc146 UTSW 5 21,510,272 (GRCm39) missense possibly damaging 0.94
R7204:Ccdc146 UTSW 5 21,513,624 (GRCm39) missense probably benign 0.22
R7336:Ccdc146 UTSW 5 21,508,110 (GRCm39) missense probably benign 0.41
R7608:Ccdc146 UTSW 5 21,506,450 (GRCm39) missense probably benign 0.02
R8310:Ccdc146 UTSW 5 21,506,469 (GRCm39) intron probably benign
R8427:Ccdc146 UTSW 5 21,604,790 (GRCm39) missense unknown
R8927:Ccdc146 UTSW 5 21,538,060 (GRCm39) missense probably damaging 1.00
R8928:Ccdc146 UTSW 5 21,538,060 (GRCm39) missense probably damaging 1.00
R8957:Ccdc146 UTSW 5 21,514,585 (GRCm39) intron probably benign
R9003:Ccdc146 UTSW 5 21,508,132 (GRCm39) missense possibly damaging 0.58
R9252:Ccdc146 UTSW 5 21,502,023 (GRCm39) missense probably damaging 0.98
R9425:Ccdc146 UTSW 5 21,508,135 (GRCm39) missense probably damaging 0.99
R9612:Ccdc146 UTSW 5 21,535,577 (GRCm39) missense probably damaging 0.99
R9774:Ccdc146 UTSW 5 21,506,247 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTCACAGCCTCAGTGTTG -3'
(R):5'- GGACCTTGAAATCAGGCTATACAAG -3'

Sequencing Primer
(F):5'- AGCCTCAGTGTTGCCGTG -3'
(R):5'- CTTGAAATCAGGCTATACAAGAAGAG -3'
Posted On 2016-10-24