Incidental Mutation 'IGL03408:Ccdc85a'
ID421671
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? Possibly non essential (E-score: 0.255) question?
Stock #IGL03408
Quality Score
Status
Chromosome11
Chromosomal Location28385685-28584324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 28576528 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 360 (H360L)
Ref Sequence ENSEMBL: ENSMUSP00000124972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042534] [ENSMUST00000093253] [ENSMUST00000109502] [ENSMUST00000146385]
Predicted Effect probably damaging
Transcript: ENSMUST00000042534
AA Change: H360L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044649
Gene: ENSMUSG00000032878
AA Change: H360L

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 damaging
Transcript: ENSMUST00000093253
AA Change: H360L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090941
Gene: ENSMUSG00000032878
AA Change: H360L

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: H332L

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105128
Gene: ENSMUSG00000032878
AA Change: H332L

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 damaging
Transcript: ENSMUST00000146385
AA Change: H360L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124972
Gene: ENSMUSG00000032878
AA Change: H360L

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,214,405 Y652C probably benign Het
Abca12 A T 1: 71,264,795 F2108I probably damaging Het
Aco2 T C 15: 81,899,223 probably null Het
Ccdc186 T C 19: 56,798,731 K602E probably benign Het
Cited2 A G 10: 17,724,400 H152R possibly damaging Het
Cluh C A 11: 74,665,953 R940S probably benign Het
Corin T A 5: 72,342,961 Y432F probably benign Het
Creb1 A G 1: 64,576,332 probably null Het
Dhx15 A T 5: 52,160,312 D568E probably damaging Het
Esam G T 9: 37,534,653 R162S possibly damaging Het
Fat3 T A 9: 15,997,957 K2250* probably null Het
Fbxl17 G A 17: 63,080,546 R133* probably null Het
Gm11639 T A 11: 104,710,621 S253R probably benign Het
Gzmc C T 14: 56,234,016 G23R probably damaging Het
Idh3a A G 9: 54,596,922 N189D probably benign Het
Il31ra A T 13: 112,525,888 D462E probably benign Het
Inpp5j G A 11: 3,502,809 A147V possibly damaging Het
Kalrn G A 16: 34,314,176 A412V probably damaging Het
Lrp1b A G 2: 40,858,582 V2968A probably damaging Het
Morc1 G A 16: 48,442,412 G42R probably damaging Het
Notch4 T C 17: 34,565,568 L85P probably benign Het
Olfr1263 G A 2: 90,015,571 V214M probably benign Het
Olfr498 A T 7: 108,465,347 N8Y probably damaging Het
Parp4 T A 14: 56,602,408 H524Q probably damaging Het
Pole T C 5: 110,294,560 F285L probably damaging Het
Scn9a A G 2: 66,526,747 M1070T probably benign Het
Slc25a32 G A 15: 39,100,030 A132V probably benign Het
Sult2a2 T G 7: 13,738,229 I117S probably damaging Het
Suv39h2 T C 2: 3,459,876 N183S probably damaging Het
Trhr2 G A 8: 122,358,795 T150M probably damaging Het
Usp34 T A 11: 23,446,957 F614I possibly damaging Het
Vmn2r17 A G 5: 109,429,372 probably benign Het
Wfdc2 T A 2: 164,563,363 C61* probably null Het
Zfp384 T C 6: 125,035,713 S377P probably damaging Het
Zfp945 A T 17: 22,852,537 Y150* probably null 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
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 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
R7848:Ccdc85a UTSW 11 28396123 missense possibly damaging 0.85
R7931:Ccdc85a UTSW 11 28396123 missense possibly damaging 0.85
Z1177:Ccdc85a UTSW 11 28583491 missense probably benign 0.00
Posted On2016-08-02