Incidental Mutation 'IGL03142:Cep43'
ID 410713
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 # IGL03142
Quality Score
Status
Chromosome 17
Chromosomal Location 8384333-8415636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8411041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 331 (S331R)
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: S331R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024636
Gene: ENSMUSG00000069135
AA Change: S331R

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: S351R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095030
Gene: ENSMUSG00000069135
AA Change: S351R

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging Het
Other mutations in Cep43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Cep43 APN 17 8,411,109 (GRCm39) missense probably damaging 0.97
IGL02225:Cep43 APN 17 8,401,251 (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 2016-08-02