Incidental Mutation 'R7307:Ccdc85a'
ID567326
Institutional Source Beutler Lab
Gene Symbol Ccdc85a
Ensembl Gene ENSMUSG00000032878
Gene Namecoiled-coil domain containing 85A
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.501) question?
Stock #R7307 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location28385685-28584324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28399384 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 474 (S474P)
Ref Sequence ENSEMBL: ENSMUSP00000124972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042534] [ENSMUST00000093253] [ENSMUST00000109502] [ENSMUST00000146385] [ENSMUST00000160016]
Predicted Effect probably benign
Transcript: ENSMUST00000042534
SMART Domains Protein: ENSMUSP00000044649
Gene: ENSMUSG00000032878

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
SMART Domains Protein: ENSMUSP00000090941
Gene: ENSMUSG00000032878

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 probably benign
Transcript: ENSMUST00000109502
SMART Domains Protein: ENSMUSP00000105128
Gene: ENSMUSG00000032878

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: S474P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124972
Gene: ENSMUSG00000032878
AA Change: S474P

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000160016
AA Change: S81P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 17,118,395 P155L probably benign Het
Adamts12 G T 15: 11,217,813 L285F probably damaging Het
Ankrd6 A T 4: 32,816,949 Y393N possibly damaging Het
Arhgap45 A G 10: 80,029,182 Q993R probably benign Het
Arhgef33 G C 17: 80,347,120 probably null Het
B4galnt3 T C 6: 120,215,431 D448G probably benign Het
Capn1 C G 19: 5,993,908 E564D possibly damaging Het
Cdk12 T A 11: 98,249,800 L1289* probably null Het
Cramp1l A T 17: 24,974,745 N920K possibly damaging Het
Cubn C T 2: 13,340,332 S2091N probably damaging Het
Ddx1 A T 12: 13,223,959 I581N probably damaging Het
Dnm2 A T 9: 21,485,687 N487Y probably damaging Het
Enc1 A C 13: 97,245,093 N37T probably damaging Het
Ephb3 T G 16: 21,222,226 I932S probably benign Het
Frk T A 10: 34,591,938 M316K probably damaging Het
Gdap2 C T 3: 100,202,033 R25C unknown Het
Gm10436 A C 12: 88,181,749 C32W probably damaging Het
Gpat2 T A 2: 127,434,890 D671E probably damaging Het
Gpr179 C T 11: 97,338,846 E828K probably benign Het
Greb1l T C 18: 10,538,142 Y1052H probably damaging Het
Gtf2f1 C T 17: 57,007,833 S69N probably damaging Het
Hid1 A C 11: 115,348,482 I785S probably damaging Het
Hmcn2 T C 2: 31,343,081 I214T probably damaging Het
Hsd3b5 G T 3: 98,619,769 F120L probably damaging Het
Kif16b C T 2: 142,712,931 R649Q probably benign Het
Kif17 A T 4: 138,262,643 E47D probably benign Het
Kmt2b T C 7: 30,580,471 H1368R probably damaging Het
Kmt2d A T 15: 98,849,418 S3342T unknown Het
Krt82 A G 15: 101,542,907 C356R probably damaging Het
Lrit2 A G 14: 37,072,199 K407E probably benign Het
Malt1 T A 18: 65,451,569 H325Q possibly damaging Het
Mccc2 T G 13: 99,988,600 D187A possibly damaging Het
Mgll T A 6: 88,814,121 probably null Het
Mindy2 T G 9: 70,610,959 E449A possibly damaging Het
Muc5b G A 7: 141,842,294 V96M unknown Het
Nlrp4e A G 7: 23,321,528 E480G probably benign Het
Nup98 A G 7: 102,134,795 I1093T probably benign Het
Olfr1288 A T 2: 111,478,760 probably benign Het
Olfr243 G T 7: 103,716,966 R124L probably damaging Het
Olfr350 G A 2: 36,850,125 M26I probably benign Het
Olfr541 G A 7: 140,705,147 V299I probably benign Het
Pcdhb6 A T 18: 37,335,478 H484L probably benign Het
Phldb1 T C 9: 44,694,047 T604A possibly damaging Het
Pitpnm3 G T 11: 72,070,964 A275D probably damaging Het
Polr2a A T 11: 69,747,292 probably null Het
Polr3a A G 14: 24,459,987 C960R probably benign Het
Pou6f2 G A 13: 18,239,713 A159V Het
Pramef6 A C 4: 143,896,775 Y276* probably null Het
Psmc4 A G 7: 28,042,660 V303A probably benign Het
Ptdss2 A G 7: 141,151,732 N151S possibly damaging Het
Ptprk T A 10: 28,589,008 Y1295* probably null Het
Rbm19 A G 5: 120,186,218 K881E possibly damaging Het
Rcan2 T A 17: 44,021,102 Y183* probably null Het
Rnd1 T C 15: 98,670,799 E166G probably damaging Het
Rnf113a2 T A 12: 84,418,179 C282S probably damaging Het
S100b G A 10: 76,257,092 G20R probably benign Het
Sae1 G T 7: 16,368,544 Y168* probably null Het
Samd9l C A 6: 3,372,600 G1554* probably null Het
Samhd1 T C 2: 157,135,020 S55G probably benign Het
Sgsm1 T C 5: 113,273,646 D525G probably benign Het
Slc28a3 A T 13: 58,563,172 M512K probably damaging Het
Slc9b2 T A 3: 135,318,390 N67K probably benign Het
Smarca4 T A 9: 21,638,800 I402N probably damaging Het
St7l T C 3: 104,889,353 F261L probably benign Het
Syde2 T A 3: 146,015,798 V1140D probably damaging Het
Syt6 T A 3: 103,587,472 I251N probably damaging Het
Taok2 T C 7: 126,866,818 E916G probably damaging Het
Tecta A G 9: 42,377,992 S426P probably damaging Het
Thra T C 11: 98,764,308 I338T probably damaging Het
Trub1 A T 19: 57,472,703 Y137F probably damaging Het
Vps13b T C 15: 35,841,545 F2574L probably benign Het
Ythdf3 T C 3: 16,183,500 S2P possibly damaging Het
Zc3h13 T A 14: 75,330,541 D1091E probably damaging Het
Zdhhc6 A G 19: 55,313,250 Y100H probably damaging Het
Other mutations in Ccdc85a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Ccdc85a APN 11 28576506 missense probably damaging 1.00
IGL02260:Ccdc85a APN 11 28576672 missense possibly damaging 0.86
IGL03408:Ccdc85a APN 11 28576528 missense probably damaging 0.99
unter UTSW 11 28577192 missense probably damaging 1.00
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 splice site 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
R7848:Ccdc85a UTSW 11 28396123 missense possibly damaging 0.85
Z1177:Ccdc85a UTSW 11 28583491 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGTAAATGATTCCAGTCCACG -3'
(R):5'- CAGGTGCATGTTATAGCTTGCC -3'

Sequencing Primer
(F):5'- GTAAATGATTCCAGTCCACGATTGCC -3'
(R):5'- GTCATTGTGGTTCATCTCATTAAGC -3'
Posted On2019-06-26