Incidental Mutation 'IGL01868:Ccdc146'
ID 278953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc146
Ensembl Gene ENSMUSG00000064280
Gene Name coiled-coil domain containing 146
Synonyms 4930528G09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01868
Quality Score
Status
Chromosome 5
Chromosomal Location 21497959-21629675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21538052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 91 (A91S)
Ref Sequence ENSEMBL: ENSMUSP00000030552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030552] [ENSMUST00000115245]
AlphaFold E9Q9F7
Predicted Effect probably damaging
Transcript: ENSMUST00000030552
AA Change: A91S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
AA Change: A91S

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
Predicted Effect probably benign
Transcript: ENSMUST00000115245
AA Change: A91S

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: A91S

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 noncoding transcript
Transcript: ENSMUST00000123796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132473
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Amdhd2 G T 17: 24,376,504 (GRCm39) T346K probably damaging Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Ddx46 C T 13: 55,787,683 (GRCm39) R96* probably null Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Drgx C A 14: 32,330,334 (GRCm39) F150L probably damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or4c100 T C 2: 88,356,059 (GRCm39) V44A possibly damaging Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Plcb2 A G 2: 118,540,071 (GRCm39) L1074P probably damaging Het
Plcb2 G T 2: 118,541,868 (GRCm39) T914N probably benign Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Serpina1f T A 12: 103,659,704 (GRCm39) N193Y probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Spg7 T C 8: 123,816,975 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tbc1d9b T C 11: 50,052,460 (GRCm39) F889S probably damaging Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vim G A 2: 13,583,249 (GRCm39) R217H possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K probably benign 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
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
R5532:Ccdc146 UTSW 5 21,510,329 (GRCm39) missense probably benign 0.02
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
Posted On 2015-04-16