Incidental Mutation 'IGL01963:Cep43'
ID 182464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep43
Ensembl Gene ENSMUSG00000069135
Gene Name centrosomal protein 43
Synonyms Fop, Fgfr1op, 4930553O10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01963
Quality Score
Status
Chromosome 17
Chromosomal Location 8384333-8415636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8411109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 354 (D354V)
Ref Sequence ENSEMBL: ENSMUSP00000024636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024636] [ENSMUST00000097419]
AlphaFold Q66JX5
Predicted Effect probably damaging
Transcript: ENSMUST00000024636
AA Change: D354V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024636
Gene: ENSMUSG00000069135
AA Change: D354V

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
LisH 70 102 1.82e0 SMART
low complexity region 169 200 N/A INTRINSIC
low complexity region 211 222 N/A INTRINSIC
low complexity region 269 282 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097419
AA Change: D374V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095030
Gene: ENSMUSG00000069135
AA Change: D374V

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
LisH 70 102 1.82e0 SMART
low complexity region 178 191 N/A INTRINSIC
low complexity region 194 220 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
low complexity region 289 302 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161898
SMART Domains Protein: ENSMUSP00000123855
Gene: ENSMUSG00000069135

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
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 largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik G A 14: 4,350,856 (GRCm38) G130D probably damaging Het
Abca8b T A 11: 109,862,589 (GRCm39) D392V probably damaging Het
Clptm1l T A 13: 73,765,688 (GRCm39) probably benign Het
Creb3l1 G A 2: 91,823,678 (GRCm39) T178I probably benign Het
Ctsd A G 7: 141,930,336 (GRCm39) probably null Het
Dcstamp A T 15: 39,623,755 (GRCm39) I401F possibly damaging Het
Dnah5 A G 15: 28,370,682 (GRCm39) D2874G probably benign Het
Fcsk A G 8: 111,620,034 (GRCm39) F281S probably damaging Het
Fli1 T A 9: 32,335,503 (GRCm39) K310* probably null Het
Fndc4 C T 5: 31,452,556 (GRCm39) probably null Het
Gc G A 5: 89,569,981 (GRCm39) probably benign Het
Krtap26-1 A G 16: 88,444,556 (GRCm39) C22R probably damaging Het
Obscn C T 11: 58,911,367 (GRCm39) G6422S probably benign Het
Or10d5 C A 9: 39,861,536 (GRCm39) C177F probably damaging Het
Or10j2 T A 1: 173,097,919 (GRCm39) M59K probably damaging Het
Or5b21 T A 19: 12,839,746 (GRCm39) F202L probably benign Het
Pgr C T 9: 8,922,669 (GRCm39) P613L probably damaging Het
Pnpla8 C A 12: 44,342,816 (GRCm39) A524E possibly damaging Het
Psma2 A T 13: 14,793,948 (GRCm39) I105F probably damaging Het
Ptprg A G 14: 12,220,661 (GRCm38) R458G probably damaging Het
Rbm44 A G 1: 91,090,830 (GRCm39) I755V probably benign Het
Rev3l A G 10: 39,698,733 (GRCm39) K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 (GRCm39) probably benign Het
Sel1l3 A C 5: 53,357,680 (GRCm39) V104G probably damaging Het
Sirpb1c T C 3: 15,892,937 (GRCm39) N89S probably benign Het
Slc25a16 G A 10: 62,766,220 (GRCm39) probably null Het
Sulf1 C T 1: 12,888,731 (GRCm39) R339C probably damaging Het
Tedc2 C T 17: 24,436,926 (GRCm39) A270T probably benign Het
Trem3 T C 17: 48,554,880 (GRCm39) S2P possibly damaging Het
Vps37a G T 8: 40,993,771 (GRCm39) Q255H probably damaging Het
Zfp352 C T 4: 90,112,391 (GRCm39) A177V possibly damaging Het
Other mutations in Cep43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Cep43 APN 17 8,401,251 (GRCm39) missense probably damaging 1.00
IGL03142:Cep43 APN 17 8,411,041 (GRCm39) missense probably damaging 1.00
PIT4378001:Cep43 UTSW 17 8,401,105 (GRCm39) missense probably damaging 0.98
R0101:Cep43 UTSW 17 8,388,374 (GRCm39) missense possibly damaging 0.64
R0514:Cep43 UTSW 17 8,410,266 (GRCm39) missense possibly damaging 0.92
R5257:Cep43 UTSW 17 8,391,775 (GRCm39) missense probably benign 0.09
R7092:Cep43 UTSW 17 8,391,802 (GRCm39) missense probably benign 0.01
R9409:Cep43 UTSW 17 8,411,088 (GRCm39) missense probably benign 0.04
Posted On 2014-05-07