Incidental Mutation 'R7547:Ccdc43'
ID 584268
Institutional Source Beutler Lab
Gene Symbol Ccdc43
Ensembl Gene ENSMUSG00000020925
Gene Name coiled-coil domain containing 43
Synonyms D11Ertd707e, 2610001E01Rik
MMRRC Submission 045618-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # R7547 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 102575512-102588608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102582948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 92 (V92A)
Ref Sequence ENSEMBL: ENSMUSP00000090230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092569] [ENSMUST00000164506]
AlphaFold Q9CR29
Predicted Effect probably benign
Transcript: ENSMUST00000092569
AA Change: V92A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000090230
Gene: ENSMUSG00000020925
AA Change: V92A

DomainStartEndE-ValueType
low complexity region 138 149 N/A INTRINSIC
coiled coil region 172 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164506
AA Change: V92A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000127494
Gene: ENSMUSG00000020925
AA Change: V92A

DomainStartEndE-ValueType
low complexity region 134 149 N/A INTRINSIC
coiled coil region 172 217 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,109,269 (GRCm39) D146E probably benign Het
Adgrl1 C T 8: 84,665,513 (GRCm39) A1400V probably benign Het
Ank2 A G 3: 126,738,852 (GRCm39) V2344A unknown Het
Anxa2r2 A T 13: 120,488,457 (GRCm39) F31I probably damaging Het
Aplnr A T 2: 84,967,521 (GRCm39) D182V probably damaging Het
Asb4 C T 6: 5,398,350 (GRCm39) P105L probably damaging Het
Ate1 C A 7: 130,106,539 (GRCm39) R274I probably benign Het
Cfap69 T A 5: 5,654,290 (GRCm39) N548I possibly damaging Het
Clpb A G 7: 101,313,503 (GRCm39) probably null Het
Ctnnal1 G A 4: 56,817,032 (GRCm39) R597C probably damaging Het
Dchs2 A G 3: 83,263,434 (GRCm39) K3234R probably damaging Het
Dnah7a T A 1: 53,702,996 (GRCm39) K151N probably benign Het
Dnah7b T A 1: 46,253,573 (GRCm39) I1826K possibly damaging Het
Dnttip1 A G 2: 164,609,799 (GRCm39) K289E probably benign Het
Eppk1 G T 15: 75,991,740 (GRCm39) Q1714K probably benign Het
Exoc4 A G 6: 33,816,056 (GRCm39) D674G possibly damaging Het
Galnt7 A T 8: 58,036,996 (GRCm39) V131D possibly damaging Het
Glg1 C T 8: 111,914,393 (GRCm39) V464M possibly damaging Het
Hlcs G T 16: 94,032,031 (GRCm39) S444* probably null Het
Larp1 G T 11: 57,943,405 (GRCm39) probably null Het
Macf1 T C 4: 123,335,410 (GRCm39) Y4386C probably damaging Het
Mapt A G 11: 104,213,138 (GRCm39) probably null Het
Neb C T 2: 52,172,637 (GRCm39) V1557I probably benign Het
Nid2 A G 14: 19,847,345 (GRCm39) T953A probably benign Het
Or5b105 T C 19: 13,080,407 (GRCm39) D87G not run Het
Pax3 G A 1: 78,099,231 (GRCm39) Q319* probably null Het
Ppp2r1b T A 9: 50,773,762 (GRCm39) S212R probably benign Het
Prss29 T C 17: 25,539,896 (GRCm39) L98P probably damaging Het
Ptch2 T G 4: 116,967,161 (GRCm39) L646R probably damaging Het
Rasa2 T A 9: 96,493,474 (GRCm39) E70V probably damaging Het
Serf2 A G 2: 121,281,256 (GRCm39) N65S possibly damaging Het
Serpinb6b G A 13: 33,158,907 (GRCm39) G155D probably benign Het
Serpinb6c A G 13: 34,077,875 (GRCm39) I165T possibly damaging Het
Skint5 A T 4: 113,483,785 (GRCm39) V949E unknown Het
Slc11a2 A G 15: 100,295,651 (GRCm39) I490T possibly damaging Het
Slx4 T C 16: 3,803,436 (GRCm39) D1126G probably benign Het
Tent4a G T 13: 69,681,823 (GRCm39) P160Q probably benign Het
Tln1 G T 4: 43,545,206 (GRCm39) A1003E possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Trav21-dv12 T C 14: 54,114,072 (GRCm39) V64A probably damaging Het
U2surp T C 9: 95,361,402 (GRCm39) E620G possibly damaging Het
Usp3 T C 9: 66,449,906 (GRCm39) N179S possibly damaging Het
Vps13d T C 4: 144,784,108 (GRCm39) T3889A Het
Vps35 C T 8: 85,989,999 (GRCm39) V670M probably damaging Het
Zfp626 T C 7: 27,517,828 (GRCm39) S270P possibly damaging Het
Zfp955a C T 17: 33,461,797 (GRCm39) V112M probably benign Het
Zranb2 T C 3: 157,246,806 (GRCm39) S165P possibly damaging Het
Other mutations in Ccdc43
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT1430001:Ccdc43 UTSW 11 102,582,976 (GRCm39) missense probably damaging 1.00
R3880:Ccdc43 UTSW 11 102,583,029 (GRCm39) splice site probably null
R4930:Ccdc43 UTSW 11 102,581,111 (GRCm39) missense probably damaging 1.00
R5375:Ccdc43 UTSW 11 102,581,058 (GRCm39) missense probably damaging 1.00
R7140:Ccdc43 UTSW 11 102,579,695 (GRCm39) splice site probably null
R7782:Ccdc43 UTSW 11 102,588,443 (GRCm39) missense probably damaging 1.00
R9516:Ccdc43 UTSW 11 102,577,207 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- CGGAGATTGGACCAGAGATTC -3'
(R):5'- ATCTGTGGCCCAAGTCCTTG -3'

Sequencing Primer
(F):5'- CATGACCTGAATTTCCTCAAGGTGG -3'
(R):5'- AAGTCCTTGCGCCAGTG -3'
Posted On 2019-10-17