Incidental Mutation 'IGL02983:Clec4a3'
ID 406648
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 # IGL02983
Quality Score
Status
Chromosome 6
Chromosomal Location 122952515-122969875 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 122967567 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088468] [ENSMUST00000088468] [ENSMUST00000088468] [ENSMUST00000117173] [ENSMUST00000117173] [ENSMUST00000117173] [ENSMUST00000204427]
AlphaFold Q8JZX6
Predicted Effect probably null
Transcript: ENSMUST00000088468
SMART Domains Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably null
Transcript: ENSMUST00000088468
SMART Domains Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably null
Transcript: ENSMUST00000088468
SMART Domains Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117173
SMART Domains Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117173
SMART Domains Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117173
SMART Domains Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204427
SMART Domains Protein: ENSMUSP00000144856
Gene: ENSMUSG00000043832

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Clec4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:Clec4a3 APN 6 122952860 utr 5 prime probably benign
IGL02210:Clec4a3 APN 6 122954108 missense probably damaging 0.98
IGL02874:Clec4a3 APN 6 122967560 missense probably benign 0.16
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 2016-08-02