Incidental Mutation 'IGL02726:Clec4a4'
ID305209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4a4
Ensembl Gene ENSMUSG00000059639
Gene NameC-type lectin domain family 4, member a4
SynonymsDcir2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.029) question?
Stock #IGL02726
Quality Score
Status
Chromosome6
Chromosomal Location122990367-123024105 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 122990379 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 5 (I5F)
Ref Sequence ENSEMBL: ENSMUSP00000078351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079379]
PDB Structure
Crystal structure of C-type lectin domain of murine dendritic cell inhibitory receptor 2 (apo form) [X-RAY DIFFRACTION]
Crystal structure of C-type lectin domain of murine dendritic cell inhibitory receptor 2 in complex with N-glycan [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000079379
AA Change: I5F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078351
Gene: ENSMUSG00000059639
AA Change: I5F

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 230 1.72e-32 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik A G 13: 34,952,960 probably benign Het
Anapc1 A T 2: 128,659,785 M779K probably benign Het
Art1 G A 7: 102,110,748 V85M probably damaging Het
Atad2b G T 12: 4,974,003 E43* probably null Het
Cr1l A T 1: 195,129,880 I45N probably damaging Het
Dmbt1 T A 7: 131,074,410 probably benign Het
Dnajb3 A T 1: 88,205,650 V10E probably damaging Het
Dnajc22 A T 15: 99,101,000 H22L probably damaging Het
Dnal4 A G 15: 79,763,544 V40A probably damaging Het
Dsg1b G A 18: 20,399,485 V529I probably benign Het
Fam131c T A 4: 141,382,802 D170E probably benign Het
Gm13088 G T 4: 143,655,385 P247H probably damaging Het
Got1 G A 19: 43,500,412 probably null Het
Herc1 T A 9: 66,441,988 V2043E probably benign Het
Hmcn1 A T 1: 150,656,694 Y3147* probably null Het
Ifi44 T C 3: 151,749,596 probably benign Het
Ikbkap T A 4: 56,767,878 probably null Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Ino80 A T 2: 119,442,483 I504N probably damaging Het
Itpr2 A G 6: 146,375,921 I655T probably benign Het
Kcnk4 A G 19: 6,927,089 probably null Het
Mrgprb2 T A 7: 48,552,870 R36W probably damaging Het
Mslnl T C 17: 25,744,103 probably null Het
Olfr1008 G T 2: 85,690,210 L260F possibly damaging Het
Olfr1338 T A 4: 118,753,764 Y260F probably benign Het
Olfr393 T C 11: 73,847,865 S87G probably benign Het
Olfr694 A C 7: 106,689,370 Y120* probably null Het
Pcnx4 G T 12: 72,574,212 M935I probably benign Het
Pdgfra C T 5: 75,194,957 Q1043* probably null Het
Pf4 T C 5: 90,772,664 V28A probably benign Het
Piezo1 A G 8: 122,487,155 L1689P probably damaging Het
Ppa2 A G 3: 133,370,461 S284G possibly damaging Het
Psd2 T C 18: 35,987,302 probably null Het
Rbm25 G T 12: 83,672,852 G549W probably damaging Het
Ryr2 T C 13: 11,738,320 D1705G probably damaging Het
Shf A T 2: 122,359,488 D96E probably damaging Het
Slc1a1 G A 19: 28,911,769 V481M probably benign Het
Slc4a9 T C 18: 36,539,617 V807A probably benign Het
Syne2 T A 12: 76,015,582 I4226N probably damaging Het
Tkfc A T 19: 10,596,212 V254E possibly damaging Het
Ubr2 A C 17: 46,972,921 Y601D probably damaging Het
Ubr5 A C 15: 38,000,562 probably benign Het
Vmn1r27 A T 6: 58,215,869 I50K possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Clec4a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Clec4a4 APN 6 123024016 nonsense probably null
IGL01659:Clec4a4 APN 6 123023935 missense probably damaging 0.98
IGL02455:Clec4a4 APN 6 123013780 missense possibly damaging 0.94
IGL03241:Clec4a4 APN 6 122990373 missense probably damaging 0.99
R0751:Clec4a4 UTSW 6 123012712 missense probably benign 0.12
R1184:Clec4a4 UTSW 6 123012712 missense probably benign 0.12
R1455:Clec4a4 UTSW 6 123012799 missense possibly damaging 0.60
R1474:Clec4a4 UTSW 6 123012744 missense probably benign 0.01
R1514:Clec4a4 UTSW 6 122990442 missense probably benign 0.26
R1779:Clec4a4 UTSW 6 123023975 missense probably damaging 1.00
R2138:Clec4a4 UTSW 6 123023978 missense probably damaging 0.99
R2182:Clec4a4 UTSW 6 123013757 critical splice acceptor site probably null
R2207:Clec4a4 UTSW 6 123013807 missense probably damaging 1.00
R3817:Clec4a4 UTSW 6 122990407 missense probably damaging 0.99
R5474:Clec4a4 UTSW 6 123012747 missense probably damaging 0.99
R5917:Clec4a4 UTSW 6 123004058 missense probably benign 0.25
R6164:Clec4a4 UTSW 6 122991874 missense possibly damaging 0.89
R6628:Clec4a4 UTSW 6 123012804 missense probably benign 0.23
X0013:Clec4a4 UTSW 6 123023912 missense probably damaging 1.00
Posted On2015-04-16