Incidental Mutation 'IGL02937:Cc2d1b'
ID364379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cc2d1b
Ensembl Gene ENSMUSG00000028582
Gene Namecoiled-coil and C2 domain containing 1B
SynonymsFreud2, A830039B04Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.389) question?
Stock #IGL02937
Quality Score
Status
Chromosome4
Chromosomal Location108619940-108634123 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108631894 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 796 (E796G)
Ref Sequence ENSEMBL: ENSMUSP00000030320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030320]
Predicted Effect probably damaging
Transcript: ENSMUST00000030320
AA Change: E796G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582
AA Change: E796G

DomainStartEndE-ValueType
low complexity region 39 59 N/A INTRINSIC
low complexity region 90 110 N/A INTRINSIC
DM14 167 224 1.11e-20 SMART
DM14 278 335 5.07e-24 SMART
low complexity region 370 382 N/A INTRINSIC
DM14 383 441 8.62e-27 SMART
low complexity region 487 498 N/A INTRINSIC
low complexity region 509 522 N/A INTRINSIC
DM14 527 585 6.44e-26 SMART
coiled coil region 604 626 N/A INTRINSIC
C2 690 804 8.05e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126156
Predicted Effect unknown
Transcript: ENSMUST00000134844
AA Change: E717G
SMART Domains Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582
AA Change: E717G

DomainStartEndE-ValueType
low complexity region 31 51 N/A INTRINSIC
DM14 108 165 1.11e-20 SMART
DM14 200 257 5.07e-24 SMART
low complexity region 292 304 N/A INTRINSIC
DM14 305 363 8.62e-27 SMART
low complexity region 409 420 N/A INTRINSIC
low complexity region 431 444 N/A INTRINSIC
DM14 449 507 6.44e-26 SMART
coiled coil region 525 547 N/A INTRINSIC
C2 612 726 8.05e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176877
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,294,753 C21Y probably damaging Het
4933427D06Rik T C 6: 89,108,145 noncoding transcript Het
5730480H06Rik A G 5: 48,379,441 I160V probably benign Het
Arhgap29 G A 3: 121,974,049 E47K probably damaging Het
Arhgef12 T A 9: 43,015,920 S303C probably damaging Het
Bap1 A G 14: 31,258,327 N644S probably benign Het
Cfh C A 1: 140,105,442 R788L probably benign Het
Cldn1 A G 16: 26,360,873 F148S probably damaging Het
Cryzl1 A G 16: 91,690,731 M292T possibly damaging Het
Cyp11b1 T C 15: 74,836,559 R385G possibly damaging Het
Cyp4f37 T C 17: 32,625,189 L89P probably benign Het
Dach1 A G 14: 97,915,795 probably null Het
Ddx58 C T 4: 40,229,661 C86Y probably benign Het
Dhtkd1 A G 2: 5,917,905 I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 D44E probably damaging Het
Dsg1a T A 18: 20,331,534 I362N possibly damaging Het
Ecm2 T A 13: 49,518,476 I151N probably damaging Het
Far1 T A 7: 113,540,648 I101N probably damaging Het
Gm21985 T C 2: 112,341,862 S384P probably benign Het
Gnb5 T C 9: 75,340,189 Y247H probably damaging Het
Golgb1 A G 16: 36,916,210 K1940E probably damaging Het
Gprc5b A G 7: 118,983,794 V284A probably benign Het
Idh2 T C 7: 80,098,913 Y179C probably damaging Het
Kalrn G A 16: 34,220,130 Q737* probably null Het
Kcnj13 T C 1: 87,386,453 D349G probably damaging Het
Lgsn A T 1: 31,204,237 T467S possibly damaging Het
Map9 T A 3: 82,363,512 S128T possibly damaging Het
Mroh5 A G 15: 73,789,978 C455R probably damaging Het
Nes A G 3: 87,979,879 H1771R probably benign Het
Nkain2 T C 10: 32,329,844 Y65C probably damaging Het
Olfr303 T C 7: 86,394,590 K303E possibly damaging Het
Olfr623 A T 7: 103,660,905 V115D probably damaging Het
Olfr644 T A 7: 104,068,849 M61L probably damaging Het
Pabpc4l A C 3: 46,446,290 D306E probably benign Het
Parp12 A T 6: 39,102,581 Y332N probably damaging Het
Parvb A T 15: 84,308,953 K316M probably damaging Het
Pde8a T A 7: 81,295,771 probably benign Het
Polq A G 16: 37,013,109 T55A probably benign Het
Ppp2r5b T A 19: 6,230,986 K271M probably damaging Het
Ralgapb A G 2: 158,493,016 probably null Het
Skap2 T C 6: 51,909,371 N175D probably benign Het
Slc44a3 A G 3: 121,510,321 probably benign Het
Smurf2 G A 11: 106,846,047 H318Y probably damaging Het
Tbc1d23 T C 16: 57,184,415 T460A possibly damaging Het
Tcerg1 T C 18: 42,524,349 S299P unknown Het
Tll1 A C 8: 64,205,285 Y33* probably null Het
Tmem59 A T 4: 107,197,585 T196S probably damaging Het
Ttll4 C A 1: 74,679,503 A171D possibly damaging Het
Ttn T C 2: 76,811,169 T13528A possibly damaging Het
Ttn A G 2: 76,887,277 probably benign Het
Xpc C A 6: 91,500,137 G327W probably damaging Het
Zbtb7a A G 10: 81,144,298 S109G probably benign Het
Zfyve26 T C 12: 79,239,020 M2328V probably benign Het
Other mutations in Cc2d1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Cc2d1b APN 4 108627378 missense probably damaging 1.00
IGL00507:Cc2d1b APN 4 108629730 missense probably damaging 1.00
IGL00596:Cc2d1b APN 4 108627306 missense probably damaging 1.00
IGL02800:Cc2d1b APN 4 108626136 missense probably benign 0.00
R0440:Cc2d1b UTSW 4 108625816 critical splice donor site probably null
R1513:Cc2d1b UTSW 4 108633226 missense probably damaging 1.00
R1592:Cc2d1b UTSW 4 108626671 unclassified probably benign
R1663:Cc2d1b UTSW 4 108623547 missense probably damaging 1.00
R4235:Cc2d1b UTSW 4 108625352 intron probably benign
R4361:Cc2d1b UTSW 4 108624750 intron probably benign
R4739:Cc2d1b UTSW 4 108628042 missense probably benign 0.02
R5068:Cc2d1b UTSW 4 108623464 missense possibly damaging 0.92
R5152:Cc2d1b UTSW 4 108626086 missense probably benign 0.10
R5271:Cc2d1b UTSW 4 108623629 intron probably benign
R5520:Cc2d1b UTSW 4 108626359 missense possibly damaging 0.53
R6196:Cc2d1b UTSW 4 108633225 missense probably damaging 1.00
R6197:Cc2d1b UTSW 4 108633225 missense probably damaging 1.00
R6198:Cc2d1b UTSW 4 108633225 missense probably damaging 1.00
R6220:Cc2d1b UTSW 4 108633225 missense probably damaging 1.00
R6299:Cc2d1b UTSW 4 108628138 missense probably benign 0.01
R7244:Cc2d1b UTSW 4 108629602 missense probably benign 0.32
R7293:Cc2d1b UTSW 4 108631676 missense probably benign 0.40
R8105:Cc2d1b UTSW 4 108627933 missense possibly damaging 0.87
Posted On2015-12-18