Incidental Mutation 'IGL00162:Cc2d1b'
ID1713
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: 0.419) question?
Stock #IGL00162
Quality Score
Status
Chromosome4
Chromosomal Location108619940-108634123 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 108627378 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 470 (L470R)
Ref Sequence ENSEMBL: ENSMUSP00000030320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030320]
Predicted Effect probably damaging
Transcript: ENSMUST00000030320
AA Change: L470R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582
AA Change: L470R

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: L391R
SMART Domains Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582
AA Change: L391R

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 probably benign
Transcript: ENSMUST00000139962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193462
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C330021F23Rik A G 8: 3,583,904 T2A probably benign Het
Cd96 A T 16: 46,071,799 N275K possibly damaging Het
Col22a1 A G 15: 71,860,958 probably null Het
Cyb561 T C 11: 105,935,836 H197R probably damaging Het
Dlgap1 T C 17: 70,516,085 S22P probably benign Het
Dnajc6 A G 4: 101,508,089 probably benign Het
Fgf6 A T 6: 127,024,085 K185N possibly damaging Het
Fshr T C 17: 88,986,191 N353S probably damaging Het
Gabbr1 T A 17: 37,048,443 Y103* probably null Het
Gm7247 G A 14: 51,523,505 C177Y possibly damaging Het
Hikeshi A G 7: 89,935,781 F72L probably damaging Het
Ikzf4 T C 10: 128,634,547 E368G probably benign Het
Kdm3b A G 18: 34,809,409 E851G probably benign Het
Kif3b A G 2: 153,317,131 D284G probably damaging Het
Kyat3 G A 3: 142,734,474 A320T probably benign Het
Mok C T 12: 110,808,197 probably benign Het
Mrgpra3 A G 7: 47,589,519 F220L probably benign Het
Nr4a1 T C 15: 101,270,899 V272A probably damaging Het
Olfr1124 A G 2: 87,435,063 H192R probably benign Het
Olfr703 A G 7: 106,845,367 Y252C possibly damaging Het
Pikfyve T A 1: 65,260,121 probably null Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Ptpn12 T C 5: 21,029,850 E45G probably damaging Het
Ralgps1 A T 2: 33,137,682 *516R probably null Het
Senp6 A G 9: 80,116,610 D385G probably damaging Het
Siglech T C 7: 55,772,591 probably benign Het
Slit1 A G 19: 41,650,835 L212P probably damaging Het
Smchd1 T A 17: 71,465,673 probably benign Het
Snapc4 A T 2: 26,369,312 C609S probably benign Het
Strn3 T C 12: 51,661,196 T139A possibly damaging Het
Tcaf3 T C 6: 42,593,385 T478A probably benign Het
Tlr3 A G 8: 45,400,690 S198P probably damaging Het
Ttn C T 2: 76,890,479 probably benign Het
Vil1 G A 1: 74,423,875 E406K probably damaging Het
Zfp462 A G 4: 55,011,483 probably null Het
Zfyve9 A G 4: 108,642,107 V1338A possibly damaging Het
Other mutations in Cc2d1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02937:Cc2d1b APN 4 108631894 missense probably damaging 1.00
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 On2011-07-12