Incidental Mutation 'IGL02800:Ccdc153'
ID 360145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc153
Ensembl Gene ENSMUSG00000070306
Gene Name coiled-coil domain containing 153
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02800
Quality Score
Status
Chromosome 9
Chromosomal Location 44151961-44158240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44157129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 135 (E135G)
Ref Sequence ENSEMBL: ENSMUSP00000150478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034618] [ENSMUST00000092426] [ENSMUST00000213891] [ENSMUST00000215554] [ENSMUST00000215711] [ENSMUST00000216632] [ENSMUST00000217221] [ENSMUST00000217510]
AlphaFold P0C7Q1
Predicted Effect probably benign
Transcript: ENSMUST00000034618
SMART Domains Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
PDZ 58 130 2.04e-15 SMART
PDZ 165 235 2.93e-7 SMART
PDZ 271 346 2.47e-14 SMART
PDZ 403 475 1.4e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000092426
AA Change: E157G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090082
Gene: ENSMUSG00000070306
AA Change: E157G

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
coiled coil region 26 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213186
Predicted Effect probably damaging
Transcript: ENSMUST00000213891
AA Change: E157G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215554
AA Change: E102G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215711
AA Change: E120G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216047
Predicted Effect probably damaging
Transcript: ENSMUST00000216632
AA Change: E135G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216995
Predicted Effect probably benign
Transcript: ENSMUST00000217510
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,296,349 (GRCm39) I1045T probably damaging Het
Ankrd22 T C 19: 34,143,181 (GRCm39) probably benign Het
Bahcc1 A G 11: 120,163,760 (GRCm39) D686G probably damaging Het
Carns1 A G 19: 4,216,569 (GRCm39) probably benign Het
Cc2d1b C T 4: 108,483,333 (GRCm39) L306F probably benign Het
Ccne1 T C 7: 37,802,224 (GRCm39) D148G probably damaging Het
Cfap57 A T 4: 118,471,947 (GRCm39) M144K probably damaging Het
Chd6 A G 2: 160,826,552 (GRCm39) V1049A probably damaging Het
Cpne9 A G 6: 113,279,034 (GRCm39) D476G probably benign Het
Dna2 T C 10: 62,797,504 (GRCm39) probably null Het
Eif4h T C 5: 134,656,459 (GRCm39) D77G probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Fxyd5 C T 7: 30,732,404 (GRCm39) R176H possibly damaging Het
G6pd2 A G 5: 61,966,735 (GRCm39) E170G probably damaging Het
Haus3 A G 5: 34,323,668 (GRCm39) I314T possibly damaging Het
Igkv4-54 A G 6: 69,608,862 (GRCm39) V41A probably damaging Het
Kidins220 T A 12: 25,053,092 (GRCm39) C461S probably damaging Het
Lsr T C 7: 30,657,838 (GRCm39) D442G probably damaging Het
Mecom T C 3: 30,015,183 (GRCm39) I847V probably damaging Het
Mia2 C T 12: 59,235,277 (GRCm39) R1326* probably null Het
Myo15a C A 11: 60,393,195 (GRCm39) H2240N probably damaging Het
Or1e17 A G 11: 73,831,942 (GRCm39) Y290C probably damaging Het
Or4f62 A T 2: 111,986,589 (GRCm39) I98F possibly damaging Het
Osgep T A 14: 51,153,314 (GRCm39) probably benign Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pgm3 T C 9: 86,437,431 (GRCm39) E481G possibly damaging Het
Plch1 T A 3: 63,605,899 (GRCm39) D1326V probably benign Het
Rabgap1l T C 1: 160,299,623 (GRCm39) D590G possibly damaging Het
Rapsn A G 2: 90,873,584 (GRCm39) M244V probably benign Het
Rcbtb2 T A 14: 73,405,543 (GRCm39) Y299* probably null Het
Slc8a1 A T 17: 81,715,752 (GRCm39) D760E probably benign Het
Smim23 C A 11: 32,774,424 (GRCm39) probably null Het
Sva A G 6: 42,017,069 (GRCm39) T59A unknown Het
Tacc2 T A 7: 130,225,809 (GRCm39) D831E probably benign Het
Tasor2 T C 13: 3,635,154 (GRCm39) N551S probably benign Het
Tg G T 15: 66,629,735 (GRCm39) W472L probably damaging Het
Tmem231 A G 8: 112,640,664 (GRCm39) V283A probably benign Het
Traf4 A T 11: 78,051,061 (GRCm39) I365N possibly damaging Het
Usf3 G A 16: 44,039,459 (GRCm39) S1313N probably benign Het
Vangl1 G A 3: 102,070,611 (GRCm39) probably benign Het
Wdr70 T C 15: 8,111,980 (GRCm39) S88G probably benign Het
Other mutations in Ccdc153
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Ccdc153 APN 9 44,154,408 (GRCm39) missense possibly damaging 0.56
R1378:Ccdc153 UTSW 9 44,154,958 (GRCm39) missense probably null 1.00
R2228:Ccdc153 UTSW 9 44,154,314 (GRCm39) missense probably damaging 1.00
R4365:Ccdc153 UTSW 9 44,154,889 (GRCm39) missense probably damaging 0.98
R4669:Ccdc153 UTSW 9 44,157,021 (GRCm39) missense probably damaging 0.99
R4726:Ccdc153 UTSW 9 44,154,963 (GRCm39) critical splice donor site probably null
R4876:Ccdc153 UTSW 9 44,152,305 (GRCm39) start codon destroyed probably null 0.99
R5318:Ccdc153 UTSW 9 44,157,062 (GRCm39) nonsense probably null
R6416:Ccdc153 UTSW 9 44,157,077 (GRCm39) missense probably benign 0.16
R9464:Ccdc153 UTSW 9 44,157,011 (GRCm39) missense possibly damaging 0.73
R9472:Ccdc153 UTSW 9 44,154,923 (GRCm39) missense possibly damaging 0.62
Posted On 2015-12-18