Incidental Mutation 'IGL02260:Ccdc85a'
ID286702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc85a
Ensembl Gene ENSMUSG00000032878
Gene Namecoiled-coil domain containing 85A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.239) question?
Stock #IGL02260
Quality Score
Status
Chromosome11
Chromosomal Location28385685-28584324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28576672 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 284 (F284S)
Ref Sequence ENSEMBL: ENSMUSP00000105128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042534] [ENSMUST00000093253] [ENSMUST00000109502] [ENSMUST00000146385]
Predicted Effect probably benign
Transcript: ENSMUST00000042534
AA Change: F312S

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044649
Gene: ENSMUSG00000032878
AA Change: F312S

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:DUF2216 26 219 6e-103 PFAM
internal_repeat_1 297 368 2.42e-23 PROSPERO
low complexity region 371 380 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093253
AA Change: F312S

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090941
Gene: ENSMUSG00000032878
AA Change: F312S

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:DUF2216 26 219 7.3e-103 PFAM
internal_repeat_1 297 368 4.37e-22 PROSPERO
low complexity region 371 380 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109501
Predicted Effect possibly damaging
Transcript: ENSMUST00000109502
AA Change: F284S

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105128
Gene: ENSMUSG00000032878
AA Change: F284S

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:DUF2216 26 225 2.1e-85 PFAM
internal_repeat_1 269 340 3.64e-23 PROSPERO
low complexity region 343 352 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140601
Predicted Effect probably benign
Transcript: ENSMUST00000146385
AA Change: F312S

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124972
Gene: ENSMUSG00000032878
AA Change: F312S

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:DUF2216 28 219 1.4e-100 PFAM
internal_repeat_1 297 368 7.15e-22 PROSPERO
low complexity region 371 380 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C T 17: 57,447,891 A663V probably benign Het
Atg2b A T 12: 105,636,440 probably benign Het
B4galt6 T C 18: 20,700,747 I194V probably benign Het
Caprin1 T C 2: 103,779,369 Y188C probably damaging Het
Ccdc88b A T 19: 6,855,349 probably benign Het
Cox18 C T 5: 90,217,525 V272I possibly damaging Het
Dars A T 1: 128,372,161 M362K probably benign Het
Ddi1 A T 9: 6,265,760 M203K probably benign Het
Dlg4 G A 11: 70,042,267 G500R probably damaging Het
Ebf3 G A 7: 137,206,190 P375S probably damaging Het
Eif5b T A 1: 38,045,456 L842M possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm5581 T C 6: 131,167,946 noncoding transcript Het
Mapk10 A T 5: 103,038,668 D29E probably benign Het
Mib2 C T 4: 155,661,171 R61H probably damaging Het
Mki67 A G 7: 135,701,968 S724P probably benign Het
Mtor T C 4: 148,538,301 I1946T probably damaging Het
Myh14 A G 7: 44,611,571 L1873P probably damaging Het
Myom1 C T 17: 71,108,315 Q1226* probably null Het
Neb A G 2: 52,205,656 L4858P probably damaging Het
Olfr1036 C A 2: 86,075,472 T244K possibly damaging Het
Olfr502 T C 7: 108,523,285 I222V probably benign Het
Olfr561 A T 7: 102,774,907 I128F probably damaging Het
Pcdhb14 C T 18: 37,450,033 H731Y probably benign Het
Prdm16 T C 4: 154,328,287 N1087S probably benign Het
Prdm2 C T 4: 143,134,587 G711D probably damaging Het
Proser1 G A 3: 53,478,944 G749D probably damaging Het
Ptch1 A T 13: 63,565,352 probably benign Het
Pus10 A T 11: 23,707,548 K233* probably null Het
Rasa2 A G 9: 96,544,319 Y825H probably benign Het
Tbcd T C 11: 121,603,278 F969S probably damaging Het
Tbp T A 17: 15,504,616 S133T probably damaging Het
Tnks C T 8: 34,842,983 G1062D probably damaging Het
Tnrc6b T A 15: 80,880,171 S625T probably damaging Het
Triobp T C 15: 78,966,362 S239P probably benign Het
Ubiad1 T C 4: 148,444,107 D115G probably benign Het
Uckl1 A G 2: 181,569,588 S483P probably damaging Het
Vill A G 9: 119,058,441 D91G probably benign Het
Wdr62 C A 7: 30,270,782 C200F probably damaging Het
Zfp341 G A 2: 154,642,049 C586Y possibly damaging Het
Zfp687 G A 3: 95,011,264 T399I possibly damaging Het
Zp1 G T 19: 10,916,714 probably benign Het
Zzz3 T A 3: 152,452,083 D263E probably benign Het
Other mutations in Ccdc85a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Ccdc85a APN 11 28576506 missense probably damaging 1.00
IGL03408:Ccdc85a APN 11 28576528 missense probably damaging 0.99
R0363:Ccdc85a UTSW 11 28583400 missense probably damaging 1.00
R0744:Ccdc85a UTSW 11 28583296 missense probably damaging 1.00
R0833:Ccdc85a UTSW 11 28583296 missense probably damaging 1.00
R0836:Ccdc85a UTSW 11 28583296 missense probably damaging 1.00
R1241:Ccdc85a UTSW 11 28396150 missense probably benign 0.01
R1395:Ccdc85a UTSW 11 28583412 missense possibly damaging 0.84
R1679:Ccdc85a UTSW 11 28583316 missense probably damaging 1.00
R2132:Ccdc85a UTSW 11 28434151 missense probably benign 0.26
R2851:Ccdc85a UTSW 11 28392942 intron probably benign
R2853:Ccdc85a UTSW 11 28392942 intron probably benign
R3021:Ccdc85a UTSW 11 28576894 missense possibly damaging 0.95
R3087:Ccdc85a UTSW 11 28392857 nonsense probably null
R3122:Ccdc85a UTSW 11 28583499 missense unknown
R3863:Ccdc85a UTSW 11 28577335 unclassified probably null
R3885:Ccdc85a UTSW 11 28576677 missense probably benign 0.21
R3963:Ccdc85a UTSW 11 28576396 missense probably benign 0.02
R4436:Ccdc85a UTSW 11 28576457 missense probably benign 0.08
R5487:Ccdc85a UTSW 11 28576768 nonsense probably null
R5687:Ccdc85a UTSW 11 28392854 intron probably benign
R6246:Ccdc85a UTSW 11 28576897 missense probably damaging 1.00
R6957:Ccdc85a UTSW 11 28392944 intron probably benign
R7142:Ccdc85a UTSW 11 28577192 missense probably damaging 1.00
R7307:Ccdc85a UTSW 11 28399384 missense probably benign 0.00
Posted On2015-04-16