Incidental Mutation 'R5257:Cep43'
ID 399830
Institutional Source Beutler Lab
Gene Symbol Cep43
Ensembl Gene ENSMUSG00000069135
Gene Name centrosomal protein 43
Synonyms Fop, Fgfr1op, 4930553O10Rik
MMRRC Submission 042855-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5257 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 8384333-8415636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8391775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 152 (S152P)
Ref Sequence ENSEMBL: ENSMUSP00000095030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024636] [ENSMUST00000097419]
AlphaFold Q66JX5
Predicted Effect probably benign
Transcript: ENSMUST00000024636
AA Change: S152P

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000024636
Gene: ENSMUSG00000069135
AA Change: S152P

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 benign
Transcript: ENSMUST00000097419
AA Change: S152P

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095030
Gene: ENSMUSG00000069135
AA Change: S152P

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 noncoding transcript
Transcript: ENSMUST00000162586
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 97% (63/65)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,199,684 (GRCm39) T128S possibly damaging Het
Abca16 T G 7: 120,035,992 (GRCm39) probably null Het
Acp3 T C 9: 104,186,674 (GRCm39) I266V probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Asf1b C T 8: 84,695,896 (GRCm39) T179I probably benign Het
Astn1 A G 1: 158,440,102 (GRCm39) K890R probably damaging Het
Card11 G A 5: 140,862,180 (GRCm39) P1039L possibly damaging Het
Chsy3 A G 18: 59,542,866 (GRCm39) E668G possibly damaging Het
Cnot8 T A 11: 58,008,348 (GRCm39) N271K possibly damaging Het
Dcaf5 G T 12: 80,444,493 (GRCm39) P200H probably damaging Het
Dkk4 C A 8: 23,117,031 (GRCm39) L215I probably damaging Het
Dnhd1 C T 7: 105,323,244 (GRCm39) T584I probably benign Het
Dock3 T C 9: 106,874,124 (GRCm39) Y449C probably damaging Het
Dsg1a A G 18: 20,453,988 (GRCm39) D31G probably damaging Het
Foxi2 C T 7: 135,012,256 (GRCm39) T48M probably benign Het
Gdf3 T C 6: 122,583,345 (GRCm39) M341V probably damaging Het
Gm21738 A G 14: 19,415,942 (GRCm38) L199S probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Igkv4-80 T A 6: 68,993,811 (GRCm39) T27S probably benign Het
Ipo9 A T 1: 135,313,173 (GRCm39) C1019S probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Ktn1 T A 14: 47,904,820 (GRCm39) H199Q probably benign Het
Kyat3 A G 3: 142,440,337 (GRCm39) M354V probably benign Het
Lbhd1 A G 19: 8,861,453 (GRCm39) probably benign Het
Llgl1 G C 11: 60,602,389 (GRCm39) probably null Het
Lyzl6 T A 11: 103,525,899 (GRCm39) I74F probably damaging Het
Mfsd4b2 T A 10: 39,798,017 (GRCm39) M113L probably benign Het
Mslnl T C 17: 25,965,139 (GRCm39) Y502H probably benign Het
Nckap5 A G 1: 125,952,245 (GRCm39) S1372P probably damaging Het
Nle1 T C 11: 82,795,772 (GRCm39) D225G probably damaging Het
Or5au1 T C 14: 52,273,341 (GRCm39) T76A possibly damaging Het
P2rx7 A G 5: 122,819,066 (GRCm39) E496G probably damaging Het
Padi4 C T 4: 140,473,515 (GRCm39) V641M probably benign Het
Phf11d T C 14: 59,590,160 (GRCm39) I221V possibly damaging Het
Pla2g2c G A 4: 138,458,856 (GRCm39) probably benign Het
Prdm16 A T 4: 154,451,671 (GRCm39) D179E possibly damaging Het
Psca A T 15: 74,588,240 (GRCm39) I56F probably damaging Het
Ptrhd1 A G 12: 4,286,481 (GRCm39) Y124C probably damaging Het
Sardh T C 2: 27,134,271 (GRCm39) T82A probably damaging Het
Sesn1 C T 10: 41,770,984 (GRCm39) P172S probably benign Het
Setd4 T C 16: 93,393,221 (GRCm39) T57A probably damaging Het
Skint5 T C 4: 113,434,859 (GRCm39) T1037A unknown Het
Slc18a3 T C 14: 32,185,777 (GRCm39) D202G probably damaging Het
Slc44a5 G A 3: 153,948,760 (GRCm39) C176Y probably damaging Het
Slc6a5 G A 7: 49,579,740 (GRCm39) V373M probably damaging Het
Sorbs3 T C 14: 70,422,483 (GRCm39) I523V probably benign Het
Sspo T C 6: 48,453,428 (GRCm39) V2872A probably damaging Het
Stard9 T A 2: 120,529,824 (GRCm39) L2027H probably damaging Het
Tex2 T A 11: 106,458,585 (GRCm39) probably benign Het
Tfdp1 C T 8: 13,419,529 (GRCm39) T86M possibly damaging Het
Ttc6 A T 12: 57,749,061 (GRCm39) D1331V possibly damaging Het
Vps13b A G 15: 35,794,567 (GRCm39) T2326A possibly damaging Het
Wnk1 A G 6: 120,014,149 (GRCm39) S149P probably benign Het
Zfp521 G A 18: 13,980,035 (GRCm39) S126F probably damaging Het
Zfp958 A T 8: 4,678,456 (GRCm39) E160D probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTAAGGGAAACACTTTGCAG -3'
(R):5'- TACCTTGGAGACACTTTAAGAAGAC -3'

Sequencing Primer
(F):5'- CTTTGCAGGGAATTCAAATCTGACAG -3'
(R):5'- CTTGTTACAAAGGGAGTTTACAGGC -3'
Posted On 2016-07-06