Incidental Mutation 'IGL00489:Ccdc28a'
ID6124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc28a
Ensembl Gene ENSMUSG00000059554
Gene Namecoiled-coil domain containing 28A
Synonyms1700009P13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00489
Quality Score
Status
Chromosome10
Chromosomal Location18213676-18234998 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 18230513 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 22 (V22F)
Ref Sequence ENSEMBL: ENSMUSP00000050107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052648] [ENSMUST00000080860] [ENSMUST00000173243] [ENSMUST00000174592]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052648
AA Change: V22F

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050107
Gene: ENSMUSG00000059554
AA Change: V22F

DomainStartEndE-ValueType
low complexity region 56 68 N/A INTRINSIC
Pfam:DUF4061 83 173 6.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080860
AA Change: V22F

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079671
Gene: ENSMUSG00000059554
AA Change: V22F

DomainStartEndE-ValueType
low complexity region 56 68 N/A INTRINSIC
Pfam:DUF4061 82 169 2.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173243
SMART Domains Protein: ENSMUSP00000133585
Gene: ENSMUSG00000059554

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:DUF4061 28 115 1.3e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174592
SMART Domains Protein: ENSMUSP00000134307
Gene: ENSMUSG00000059554

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
Pfam:DUF4061 35 122 9.2e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216248
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,440,403 probably null Het
Alcam T A 16: 52,295,017 probably benign Het
Aspm C A 1: 139,478,691 A1772E probably damaging Het
Bag6 T A 17: 35,144,651 D770E probably damaging Het
Baz2b A T 2: 59,957,675 Y724* probably null Het
Ccdc178 A T 18: 21,844,911 I833N probably benign Het
Cmya5 T C 13: 93,093,120 N1820S probably benign Het
Fancm T G 12: 65,106,193 I1141S probably benign Het
Fgfrl1 G A 5: 108,705,887 G287S probably damaging Het
Galntl6 G A 8: 57,857,540 P376S probably damaging Het
Gm21985 A G 2: 112,337,997 probably benign Het
Hck A G 2: 153,151,019 E482G possibly damaging Het
Kcna3 C T 3: 107,037,156 S245L probably benign Het
Mcc T C 18: 44,449,216 M798V possibly damaging Het
Nlrp9c T C 7: 26,384,588 Y522C probably benign Het
Ofcc1 C A 13: 40,280,491 S46I probably damaging Het
Pdgfra A G 5: 75,163,679 D65G probably benign Het
Phf24 A C 4: 42,933,905 T59P possibly damaging Het
Pik3cg A G 12: 32,205,149 Y280H probably damaging Het
Pkd1l1 C A 11: 8,834,773 probably null Het
Plcd4 C A 1: 74,552,115 T223N probably damaging Het
Polr1b G A 2: 129,125,909 G1074D probably damaging Het
Pou2f3 T C 9: 43,128,893 T367A probably damaging Het
Prkdc T A 16: 15,799,926 M3207K possibly damaging Het
Rb1cc1 T C 1: 6,249,506 S1050P probably damaging Het
Sf3b3 G A 8: 110,813,751 R1013* probably null Het
Svep1 T C 4: 58,068,988 T2933A possibly damaging Het
Vwf A G 6: 125,658,872 R289G unknown Het
Zfp263 T C 16: 3,745,846 S155P probably benign Het
Other mutations in Ccdc28a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01806:Ccdc28a APN 10 18219514 missense possibly damaging 0.62
IGL02403:Ccdc28a APN 10 18214183 splice site probably benign
IGL02547:Ccdc28a APN 10 18214146 missense possibly damaging 0.67
R0139:Ccdc28a UTSW 10 18230440 missense possibly damaging 0.92
R0608:Ccdc28a UTSW 10 18224951 missense probably damaging 1.00
R2157:Ccdc28a UTSW 10 18230455 missense probably benign 0.13
R3861:Ccdc28a UTSW 10 18224995 missense probably damaging 1.00
R4254:Ccdc28a UTSW 10 18224935 missense probably damaging 1.00
R5621:Ccdc28a UTSW 10 18216268 missense probably benign 0.13
R5704:Ccdc28a UTSW 10 18230572 missense probably damaging 1.00
R6216:Ccdc28a UTSW 10 18224971 nonsense probably null
R7905:Ccdc28a UTSW 10 18218328 missense probably benign 0.12
R7988:Ccdc28a UTSW 10 18218328 missense probably benign 0.12
Posted On2012-04-20