Incidental Mutation 'IGL02225:Cep43'
ID 285322
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 # IGL02225
Quality Score
Status
Chromosome 17
Chromosomal Location 8384333-8415636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 8401251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 257 (D257E)
Ref Sequence ENSEMBL: ENSMUSP00000095030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024636] [ENSMUST00000097419]
AlphaFold Q66JX5
Predicted Effect probably damaging
Transcript: ENSMUST00000024636
AA Change: D237E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024636
Gene: ENSMUSG00000069135
AA Change: D237E

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 probably damaging
Transcript: ENSMUST00000097419
AA Change: D257E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095030
Gene: ENSMUSG00000069135
AA Change: D257E

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 unknown
Transcript: ENSMUST00000161898
AA Change: D57E
SMART Domains Protein: ENSMUSP00000123855
Gene: ENSMUSG00000069135
AA Change: D57E

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 43,906,165 (GRCm39) probably null Het
Adgrf4 C A 17: 42,974,269 (GRCm39) probably null Het
Aqp9 A T 9: 71,037,829 (GRCm39) probably benign Het
C1s1 A G 6: 124,518,293 (GRCm39) W8R probably benign Het
Cfap43 A G 19: 47,800,616 (GRCm39) I345T probably benign Het
Cwh43 T C 5: 73,578,910 (GRCm39) Y306H probably damaging Het
Cyp4a32 A T 4: 115,467,700 (GRCm39) H228L probably benign Het
Ddx24 A G 12: 103,383,630 (GRCm39) L607P probably damaging Het
Dlg3 A G X: 99,850,794 (GRCm39) K232R probably benign Het
Fig4 A G 10: 41,132,448 (GRCm39) S453P probably benign Het
Frem1 A G 4: 82,858,743 (GRCm39) L1556P probably damaging Het
Gjb2 T C 14: 57,337,645 (GRCm39) K188E probably damaging Het
Gp1bb C A 16: 18,439,650 (GRCm39) W148L possibly damaging Het
Grip1 C T 10: 119,885,358 (GRCm39) T375M probably damaging Het
Hnf1b T C 11: 83,752,611 (GRCm39) L82P probably damaging Het
Jakmip1 T C 5: 37,262,200 (GRCm39) V333A probably damaging Het
Magi1 G T 6: 93,671,007 (GRCm39) R1069S probably damaging Het
Myh15 A T 16: 48,911,526 (GRCm39) E319D probably benign Het
Myl4 A G 11: 104,471,228 (GRCm39) I42V probably benign Het
Obsl1 A T 1: 75,480,442 (GRCm39) V394E probably damaging Het
Or1e1c T A 11: 73,265,904 (GRCm39) F110I probably damaging Het
Or52ab7 A T 7: 102,978,373 (GRCm39) I227F probably damaging Het
Or5w14 C T 2: 87,541,743 (GRCm39) C169Y possibly damaging Het
Pcnt C T 10: 76,225,308 (GRCm39) R1732K probably benign Het
Pkd1l3 T C 8: 110,365,310 (GRCm39) Y1144H probably damaging Het
Pogz A G 3: 94,786,327 (GRCm39) K972E probably damaging Het
Sccpdh A G 1: 179,507,264 (GRCm39) T227A probably benign Het
Sec16b A G 1: 157,359,614 (GRCm39) probably benign Het
Slain2 T A 5: 73,098,733 (GRCm39) V163E probably damaging Het
Snx1 G A 9: 66,016,903 (GRCm39) P56L probably benign Het
Snx14 G A 9: 88,295,577 (GRCm39) T196I probably damaging Het
Sspo T C 6: 48,461,268 (GRCm39) F3570L probably benign Het
Tbrg4 C A 11: 6,574,094 (GRCm39) V43F probably damaging Het
Traf3ip3 A G 1: 192,877,408 (GRCm39) I176T probably benign Het
Trbv20 T A 6: 41,165,241 (GRCm39) probably benign Het
Ubc A T 5: 125,463,197 (GRCm39) V710D probably benign Het
Ugt2b35 T C 5: 87,155,264 (GRCm39) probably benign Het
Zbed5 C T 5: 129,930,974 (GRCm39) probably null Het
Zc3hav1 T C 6: 38,317,276 (GRCm39) Y108C probably damaging Het
Other mutations in Cep43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Cep43 APN 17 8,411,109 (GRCm39) missense probably damaging 0.97
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 2015-04-16