Incidental Mutation 'R1248:Clxn'
ID 152206
Institutional Source Beutler Lab
Gene Symbol Clxn
Ensembl Gene ENSMUSG00000068617
Gene Name calaxin
Synonyms 4930449A16Rik, 5430404L10Rik, Efcab1
MMRRC Submission 039315-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R1248 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 14724315-14786925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14742001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 212 (M212V)
Ref Sequence ENSEMBL: ENSMUSP00000087744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090277] [ENSMUST00000228998] [ENSMUST00000229121] [ENSMUST00000229825]
AlphaFold Q9D3N2
Predicted Effect probably benign
Transcript: ENSMUST00000090277
AA Change: M212V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087744
Gene: ENSMUSG00000068617
AA Change: M212V

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
EFh 69 97 4.12e-3 SMART
EFh 105 133 4.81e-4 SMART
EFh 150 178 3.44e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000228998
Predicted Effect probably benign
Transcript: ENSMUST00000229121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229379
Predicted Effect probably benign
Transcript: ENSMUST00000229825
Meta Mutation Damage Score 0.0675 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A T 10: 10,271,054 (GRCm39) F863Y probably damaging Het
Akap12 A G 10: 4,303,847 (GRCm39) E219G probably benign Het
Akr1c20 G A 13: 4,564,399 (GRCm39) T38I possibly damaging Het
Ap5z1 C A 5: 142,460,255 (GRCm39) S511R probably benign Het
Arhgap11a T A 2: 113,664,447 (GRCm39) H612L possibly damaging Het
Atp2b2 G T 6: 113,794,153 (GRCm39) S118Y probably damaging Het
Boc A T 16: 44,340,836 (GRCm39) M38K probably benign Het
Ccdc171 A T 4: 83,599,481 (GRCm39) E773D possibly damaging Het
Dmtn C T 14: 70,850,098 (GRCm39) probably benign Het
Dnah10 G A 5: 124,832,887 (GRCm39) probably benign Het
Fam83b T C 9: 76,410,358 (GRCm39) N184S probably benign Het
Fam98c A G 7: 28,852,265 (GRCm39) M98T probably damaging Het
Fbn1 T C 2: 125,143,529 (GRCm39) K2867E probably benign Het
Fsip2 A T 2: 82,820,107 (GRCm39) E5280V possibly damaging Het
Fuom T C 7: 139,679,631 (GRCm39) probably benign Het
Gm3476 A T 14: 6,118,512 (GRCm38) S204T probably benign Het
Grhl3 A G 4: 135,288,617 (GRCm39) F23L probably benign Het
Il4i1 G T 7: 44,489,213 (GRCm39) R334L probably damaging Het
Ipo13 A G 4: 117,758,228 (GRCm39) S712P probably damaging Het
Lama4 G T 10: 38,932,843 (GRCm39) S573I probably damaging Het
Lrp11 A G 10: 7,480,058 (GRCm39) H371R probably benign Het
Mkln1 T A 6: 31,466,303 (GRCm39) I520N probably damaging Het
Nagpa G T 16: 5,016,480 (GRCm39) C236* probably null Het
Nktr A G 9: 121,556,436 (GRCm39) N38S probably damaging Het
Nlrp10 G A 7: 108,525,088 (GRCm39) R131C probably benign Het
Nxpe2 T C 9: 48,231,211 (GRCm39) D386G possibly damaging Het
Prpf39 T A 12: 65,100,740 (GRCm39) probably benign Het
Retreg2 A G 1: 75,121,755 (GRCm39) probably benign Het
S100a4 G T 3: 90,513,084 (GRCm39) S60I possibly damaging Het
Slc12a3 G T 8: 95,059,905 (GRCm39) G184C probably damaging Het
Slc25a46 C T 18: 31,742,807 (GRCm39) D20N possibly damaging Het
Smc3 A G 19: 53,622,509 (GRCm39) K695E probably benign Het
Speer2 A T 16: 69,653,955 (GRCm39) probably null Het
Taar4 T G 10: 23,836,936 (GRCm39) V182G possibly damaging Het
Ttll1 C G 15: 83,386,326 (GRCm39) S93T probably benign Het
Ubl3 A T 5: 148,443,008 (GRCm39) probably null Het
Vmn2r16 A G 5: 109,508,643 (GRCm39) N457S probably benign Het
Vmn2r72 T C 7: 85,398,396 (GRCm39) E528G probably benign Het
Zfp52 A C 17: 21,780,311 (GRCm39) E53A probably damaging Het
Other mutations in Clxn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02182:Clxn APN 16 14,738,659 (GRCm39) missense probably damaging 1.00
IGL02490:Clxn APN 16 14,734,810 (GRCm39) missense probably benign
IGL03237:Clxn APN 16 14,738,652 (GRCm39) missense probably damaging 1.00
R5807:Clxn UTSW 16 14,734,836 (GRCm39) missense probably benign 0.06
R5851:Clxn UTSW 16 14,738,300 (GRCm39) missense probably damaging 1.00
R8905:Clxn UTSW 16 14,738,275 (GRCm39) missense possibly damaging 0.55
R9044:Clxn UTSW 16 14,738,261 (GRCm39) missense probably damaging 1.00
R9436:Clxn UTSW 16 14,735,541 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACACAGGAGAAGTTACCAGTGCTCAT -3'
(R):5'- TTGCCAAACCCAGCATATCTGAGG -3'

Sequencing Primer
(F):5'- cagggaaagtgagggcaag -3'
(R):5'- ATGGCATCTTCTGAGCTGAG -3'
Posted On 2014-01-29