Incidental Mutation 'IGL02182:Clxn'
ID 283268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clxn
Ensembl Gene ENSMUSG00000068617
Gene Name calaxin
Synonyms 4930449A16Rik, 5430404L10Rik, Efcab1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL02182
Quality Score
Status
Chromosome 16
Chromosomal Location 14724315-14786925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14738659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 163 (D163E)
Ref Sequence ENSEMBL: ENSMUSP00000155692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090277] [ENSMUST00000228998] [ENSMUST00000229121] [ENSMUST00000229825]
AlphaFold Q9D3N2
Predicted Effect probably damaging
Transcript: ENSMUST00000090277
AA Change: D163E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087744
Gene: ENSMUSG00000068617
AA Change: D163E

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 damaging
Transcript: ENSMUST00000229121
AA Change: D163E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229379
Predicted Effect probably benign
Transcript: ENSMUST00000229825
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,790 (GRCm39) N285I probably benign Het
Adprh T C 16: 38,267,838 (GRCm39) H149R probably benign Het
Ahctf1 A G 1: 179,580,643 (GRCm39) V1853A probably benign Het
Ank1 T C 8: 23,603,868 (GRCm39) V905A possibly damaging Het
Atp10b T G 11: 43,139,774 (GRCm39) L1234R probably damaging Het
Bco1 G A 8: 117,859,805 (GRCm39) A503T probably damaging Het
Cpz T A 5: 35,675,066 (GRCm39) Y61F probably damaging Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dtd2 A G 12: 52,046,492 (GRCm39) S116P probably benign Het
Eml5 T C 12: 98,768,581 (GRCm39) D1498G probably damaging Het
Fat4 T C 3: 38,944,695 (GRCm39) V1196A probably damaging Het
Gm15557 T C 2: 155,783,737 (GRCm39) D405G probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mfsd11 T A 11: 116,764,740 (GRCm39) V388E possibly damaging Het
Ms4a20 A T 19: 11,074,436 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,075 (GRCm39) T160A probably benign Het
Or52b4 A G 7: 102,184,775 (GRCm39) I274V probably benign Het
Pik3cg A T 12: 32,255,272 (GRCm39) D238E possibly damaging Het
Plcb3 T C 19: 6,946,988 (GRCm39) H9R probably benign Het
Ppp3cc A C 14: 70,462,473 (GRCm39) V388G probably benign Het
Ranbp2 T A 10: 58,321,582 (GRCm39) C2626* probably null Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scarb2 C T 5: 92,601,913 (GRCm39) S327N probably damaging Het
Secisbp2l T A 2: 125,589,497 (GRCm39) I684F probably damaging Het
Slc39a6 T C 18: 24,734,347 (GRCm39) D114G probably damaging Het
Smap1 T A 1: 23,898,180 (GRCm39) E85D probably damaging Het
Tas2r121 T A 6: 132,677,133 (GRCm39) I280F probably damaging Het
Uhrf2 T C 19: 30,016,609 (GRCm39) V86A probably benign Het
Vip A T 10: 5,593,561 (GRCm39) Y91F probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp618 G A 4: 63,013,798 (GRCm39) probably benign Het
Other mutations in Clxn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02490:Clxn APN 16 14,734,810 (GRCm39) missense probably benign
IGL03237:Clxn APN 16 14,738,652 (GRCm39) missense probably damaging 1.00
R1248:Clxn UTSW 16 14,742,001 (GRCm39) missense probably benign
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
Posted On 2015-04-16