Incidental Mutation 'IGL02210:Clec4a3'
ID 284674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4a3
Ensembl Gene ENSMUSG00000043832
Gene Name C-type lectin domain family 4, member a3
Synonyms 3110037K17Rik, mDcir3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02210
Quality Score
Status
Chromosome 6
Chromosomal Location 122952515-122969875 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122954108 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 52 (I52N)
Ref Sequence ENSEMBL: ENSMUSP00000112716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088468] [ENSMUST00000117173] [ENSMUST00000204427]
AlphaFold Q8JZX6
Predicted Effect probably damaging
Transcript: ENSMUST00000088468
AA Change: I52N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832
AA Change: I52N

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117173
AA Change: I52N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832
AA Change: I52N

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204427
AA Change: I52N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144856
Gene: ENSMUSG00000043832
AA Change: I52N

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
SCOP:d1e87a_ 71 109 1e-8 SMART
Blast:CLECT 73 109 2e-20 BLAST
PDB:3VYK|A 73 109 7e-13 PDB
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,687,371 F215S probably damaging Het
Acvr2a A T 2: 48,898,526 H422L probably damaging Het
Adcy6 T C 15: 98,594,971 Y908C possibly damaging Het
Alyref A C 11: 120,597,673 S110A possibly damaging Het
Ankrd1 T C 19: 36,118,314 D86G probably damaging Het
Anpep T A 7: 79,826,904 Y29F probably benign Het
Appl1 T C 14: 26,925,952 probably benign Het
Arrdc5 T C 17: 56,300,026 D73G probably damaging Het
Atp12a T A 14: 56,371,744 Y142* probably null Het
Cmya5 G A 13: 93,092,734 P1949S probably benign Het
Crybb2 T A 5: 113,058,387 Q194L probably damaging Het
Dmxl2 A C 9: 54,404,049 L1796R probably damaging Het
Ecm1 A G 3: 95,735,977 F337S probably damaging Het
F5 T C 1: 164,190,141 S596P probably benign Het
Fat4 A G 3: 38,891,853 T1632A probably benign Het
Gm5070 T G 3: 95,410,625 noncoding transcript Het
Hps5 T C 7: 46,786,570 Y184C probably benign Het
Letmd1 T C 15: 100,469,247 probably null Het
Lipo5 A T 19: 33,467,877 N97K unknown Het
Mis18bp1 A T 12: 65,136,831 Y922* probably null Het
Mob3c C A 4: 115,833,755 H181N probably damaging Het
Muc4 A T 16: 32,752,254 T711S probably benign Het
Nav3 T C 10: 109,766,990 T1233A probably benign Het
Olfr1120 T A 2: 87,358,003 D186E probably damaging Het
Olfr361 G T 2: 37,085,619 T43N possibly damaging Het
Pcnt T C 10: 76,389,219 E1817G possibly damaging Het
Pdzd3 T G 9: 44,248,317 T461P probably benign Het
Phc3 A G 3: 30,936,709 V420A probably damaging Het
Plekhn1 A T 4: 156,223,649 C316S probably damaging Het
Ppp1cb T A 5: 32,483,474 probably benign Het
Slc29a4 T C 5: 142,718,779 Y359H probably damaging Het
Sspo T C 6: 48,500,492 I4982T probably damaging Het
Sstr4 T A 2: 148,396,309 L280Q probably damaging Het
Stap1 G A 5: 86,078,061 probably null Het
Szt2 A G 4: 118,389,823 V865A possibly damaging Het
Tmem246 A G 4: 49,586,686 Y161H probably benign Het
Tnr T A 1: 159,852,101 V215D probably benign Het
Trpm1 T C 7: 64,210,865 L288P probably damaging Het
Ttll5 T A 12: 85,912,545 probably benign Het
Usp8 T C 2: 126,718,056 probably benign Het
Uxs1 T C 1: 43,750,286 Y403C possibly damaging Het
Wnk2 T C 13: 49,090,869 E497G probably damaging Het
Xdh T C 17: 73,943,895 K21E probably benign Het
Other mutations in Clec4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:Clec4a3 APN 6 122952860 utr 5 prime probably benign
IGL02874:Clec4a3 APN 6 122967560 missense probably benign 0.16
IGL02983:Clec4a3 APN 6 122967567 critical splice donor site probably null
R0035:Clec4a3 UTSW 6 122967549 missense probably damaging 1.00
R0035:Clec4a3 UTSW 6 122967549 missense probably damaging 1.00
R0334:Clec4a3 UTSW 6 122969370 missense possibly damaging 0.81
R0671:Clec4a3 UTSW 6 122954034 critical splice acceptor site probably null
R1508:Clec4a3 UTSW 6 122967508 missense probably benign 0.05
R1739:Clec4a3 UTSW 6 122954041 nonsense probably null
R3547:Clec4a3 UTSW 6 122964280 missense probably damaging 1.00
R5836:Clec4a3 UTSW 6 122952902 missense possibly damaging 0.66
R5953:Clec4a3 UTSW 6 122969492 missense probably benign 0.12
R7178:Clec4a3 UTSW 6 122964292 missense probably benign 0.02
R7664:Clec4a3 UTSW 6 122966422 missense probably benign 0.03
R7763:Clec4a3 UTSW 6 122964340 missense probably benign 0.01
R8739:Clec4a3 UTSW 6 122967549 missense probably damaging 1.00
R8925:Clec4a3 UTSW 6 122969369 missense probably damaging 1.00
R8927:Clec4a3 UTSW 6 122969369 missense probably damaging 1.00
R8955:Clec4a3 UTSW 6 122966520 missense possibly damaging 0.94
Posted On 2015-04-16