Incidental Mutation 'R5621:Ccdc28a'
ID 441571
Institutional Source Beutler Lab
Gene Symbol Ccdc28a
Ensembl Gene ENSMUSG00000059554
Gene Name coiled-coil domain containing 28A
Synonyms 1700009P13Rik
MMRRC Submission 043279-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5621 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 18089424-18110746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18092016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 110 (N110K)
Ref Sequence ENSEMBL: ENSMUSP00000133585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052648] [ENSMUST00000080860] [ENSMUST00000173243] [ENSMUST00000174592]
AlphaFold Q8CEI3
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 probably benign
Transcript: ENSMUST00000080860
AA Change: N164K

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000079671
Gene: ENSMUSG00000059554
AA Change: N164K

DomainStartEndE-ValueType
low complexity region 56 68 N/A INTRINSIC
Pfam:DUF4061 82 169 2.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173243
AA Change: N110K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133585
Gene: ENSMUSG00000059554
AA Change: N110K

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:DUF4061 28 115 1.3e-40 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000173962
AA Change: N47K
SMART Domains Protein: ENSMUSP00000133848
Gene: ENSMUSG00000059554
AA Change: N47K

DomainStartEndE-ValueType
Pfam:DUF4061 1 52 9.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174592
AA Change: N117K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000134307
Gene: ENSMUSG00000059554
AA Change: N117K

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
Pfam:DUF4061 35 122 9.2e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174631
Meta Mutation Damage Score 0.0609 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Cilp A G 9: 65,186,073 (GRCm39) K723E possibly damaging Het
Ciz1 C A 2: 32,261,753 (GRCm39) A455E probably damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Gpam A C 19: 55,067,692 (GRCm39) S484A probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Jmjd4 T C 11: 59,341,219 (GRCm39) F50S probably damaging Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mcph1 A G 8: 18,682,186 (GRCm39) E441G probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mms19 A G 19: 41,954,752 (GRCm39) S56P probably benign Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a22 G T 15: 57,122,547 (GRCm39) F143L probably benign Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Tm2d3 G T 7: 65,351,366 (GRCm39) D207Y probably damaging Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H probably damaging Het
Other mutations in Ccdc28a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Ccdc28a APN 10 18,106,261 (GRCm39) missense possibly damaging 0.85
IGL01806:Ccdc28a APN 10 18,095,262 (GRCm39) missense possibly damaging 0.62
IGL02403:Ccdc28a APN 10 18,089,931 (GRCm39) splice site probably benign
IGL02547:Ccdc28a APN 10 18,089,894 (GRCm39) missense possibly damaging 0.67
R0139:Ccdc28a UTSW 10 18,106,188 (GRCm39) missense possibly damaging 0.92
R0608:Ccdc28a UTSW 10 18,100,699 (GRCm39) missense probably damaging 1.00
R2157:Ccdc28a UTSW 10 18,106,203 (GRCm39) missense probably benign 0.13
R3861:Ccdc28a UTSW 10 18,100,743 (GRCm39) missense probably damaging 1.00
R4254:Ccdc28a UTSW 10 18,100,683 (GRCm39) missense probably damaging 1.00
R5704:Ccdc28a UTSW 10 18,106,320 (GRCm39) missense probably damaging 1.00
R6216:Ccdc28a UTSW 10 18,100,719 (GRCm39) nonsense probably null
R7905:Ccdc28a UTSW 10 18,094,076 (GRCm39) missense probably benign 0.12
R7981:Ccdc28a UTSW 10 18,094,127 (GRCm39) missense probably benign 0.03
R8958:Ccdc28a UTSW 10 18,089,926 (GRCm39) missense probably benign 0.07
R9111:Ccdc28a UTSW 10 18,100,750 (GRCm39) missense possibly damaging 0.74
R9363:Ccdc28a UTSW 10 18,094,050 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GCAGTCTACGACATAATATGCATCAC -3'
(R):5'- GCAAGCTGCAGTGACTTTAC -3'

Sequencing Primer
(F):5'- CGACATAATATGCATCACTTGAAGAG -3'
(R):5'- ACACTTGTTTTGTAAAAAGGATTTCC -3'
Posted On 2016-11-08