Incidental Mutation 'IGL02547:Ccdc28a'
ID297863
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 #IGL02547
Quality Score
Status
Chromosome10
Chromosomal Location18213676-18234998 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 18214146 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 124 (V124D)
Ref Sequence ENSEMBL: ENSMUSP00000133585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052648] [ENSMUST00000080860] [ENSMUST00000095817] [ENSMUST00000173243] [ENSMUST00000174592]
Predicted Effect probably benign
Transcript: ENSMUST00000052648
SMART Domains Protein: ENSMUSP00000050107
Gene: ENSMUSG00000059554

DomainStartEndE-ValueType
low complexity region 56 68 N/A INTRINSIC
Pfam:DUF4061 83 173 6.8e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000080860
AA Change: V178D

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000079671
Gene: ENSMUSG00000059554
AA Change: V178D

DomainStartEndE-ValueType
low complexity region 56 68 N/A INTRINSIC
Pfam:DUF4061 82 169 2.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095817
SMART Domains Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392

DomainStartEndE-ValueType
FBOX 93 133 3.5e-4 SMART
Pfam:DUF4347 297 468 1.4e-11 PFAM
RhoGEF 578 761 6.3e-46 SMART
Blast:PH 793 909 6e-49 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000173243
AA Change: V124D

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133585
Gene: ENSMUSG00000059554
AA Change: V124D

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:DUF4061 28 115 1.3e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173962
SMART Domains Protein: ENSMUSP00000133848
Gene: ENSMUSG00000059554

DomainStartEndE-ValueType
Pfam:DUF4061 1 52 9.4e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000174592
AA Change: V131D

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134307
Gene: ENSMUSG00000059554
AA Change: V131D

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
Pfam:DUF4061 35 122 9.2e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207148
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik C T 5: 109,678,762 probably null Het
Akap6 T A 12: 53,140,696 L1631H probably damaging Het
Atf7ip T A 6: 136,603,276 probably benign Het
Atp5o A T 16: 91,928,961 Y48N probably damaging Het
Birc6 T G 17: 74,579,645 M656R probably benign Het
Camkk1 A G 11: 73,038,433 R455G probably benign Het
Casr A T 16: 36,515,674 M91K probably benign Het
Ccnh T C 13: 85,202,504 probably benign Het
Cdc37 G T 9: 21,139,966 probably benign Het
Cdon A G 9: 35,478,654 D868G probably damaging Het
Cyp4f15 A G 17: 32,700,255 R351G probably benign Het
Dclk3 T C 9: 111,469,023 I545T probably damaging Het
Dock4 A G 12: 40,737,479 M798V probably benign Het
Gas7 A T 11: 67,665,435 Q200L probably damaging Het
Gm15448 T C 7: 3,821,661 D573G probably damaging Het
Gm4758 A T 16: 36,312,526 probably benign Het
Gm6614 A T 6: 141,990,390 L323Q probably damaging Het
Ica1 T C 6: 8,670,691 probably null Het
Idh3a T A 9: 54,592,395 V31D probably benign Het
Il3ra A T 14: 14,351,970 T247S probably benign Het
Itgb7 A G 15: 102,218,510 C497R probably damaging Het
Itm2c T C 1: 85,906,461 Y166H probably damaging Het
Mphosph8 A G 14: 56,672,484 D98G probably damaging Het
Mstn A T 1: 53,064,125 I207F probably benign Het
Muc15 A G 2: 110,731,305 R29G probably damaging Het
Neb T A 2: 52,188,730 T142S probably damaging Het
Nipbl G A 15: 8,351,598 T570I probably benign Het
Nr5a2 T A 1: 136,940,927 M196L probably benign Het
Nrp1 C A 8: 128,493,031 F643L probably benign Het
Olfr1098 A G 2: 86,923,028 F168S probably damaging Het
Olfr1441 A T 19: 12,422,311 M1L probably benign Het
Olfr600 A G 7: 103,346,244 F228S probably damaging Het
Olfr625-ps1 T C 7: 103,682,766 I16T probably benign Het
Osbpl9 C T 4: 109,068,483 W446* probably null Het
Pced1a T C 2: 130,419,707 D342G possibly damaging Het
Prkcd C A 14: 30,599,469 W555L probably damaging Het
Prpf31 T C 7: 3,630,899 S78P probably benign Het
Psg27 T C 7: 18,560,628 T285A probably benign Het
Retreg3 A T 11: 101,106,378 L92* probably null Het
Rmdn1 A G 4: 19,605,501 K282E possibly damaging Het
Sept8 G T 11: 53,537,265 R302L probably damaging Het
Serpina3a A G 12: 104,116,543 I192V probably damaging Het
Sgce T C 6: 4,711,301 probably benign Het
Spats1 A T 17: 45,474,817 probably benign Het
Tcerg1l C T 7: 138,248,371 probably null Het
Ttn A G 2: 76,729,386 V21230A probably damaging Het
Ubxn11 A C 4: 134,109,584 D41A possibly damaging Het
Vps13c T G 9: 67,908,019 I979S possibly damaging Het
Zc3h6 T A 2: 129,015,611 H683Q probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp629 T C 7: 127,611,674 probably null Het
Other mutations in Ccdc28a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Ccdc28a APN 10 18230513 missense possibly damaging 0.85
IGL01806:Ccdc28a APN 10 18219514 missense possibly damaging 0.62
IGL02403:Ccdc28a APN 10 18214183 splice site probably benign
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
R7981:Ccdc28a UTSW 10 18218379 missense probably benign 0.03
Posted On2015-04-16