Incidental Mutation 'R5836:Clec4a3'
ID 449588
Institutional Source Beutler Lab
Gene Symbol Clec4a3
Ensembl Gene ENSMUSG00000043832
Gene Name C-type lectin domain family 4, member a3
Synonyms mDcir3, 3110037K17Rik
MMRRC Submission 043222-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5836 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 122929474-122946834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122929861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 12 (F12S)
Ref Sequence ENSEMBL: ENSMUSP00000112716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088468] [ENSMUST00000117173] [ENSMUST00000204427]
AlphaFold Q8JZX6
Predicted Effect possibly damaging
Transcript: ENSMUST00000088468
AA Change: F12S

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832
AA Change: F12S

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117173
AA Change: F12S

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832
AA Change: F12S

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 107 231 1.97e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204427
AA Change: F12S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144856
Gene: ENSMUSG00000043832
AA Change: F12S

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G T 17: 36,272,918 (GRCm39) A243D possibly damaging Het
Azin2 C T 4: 128,842,670 (GRCm39) G128D probably damaging Het
Babam1 A G 8: 71,855,687 (GRCm39) E260G probably benign Het
Brwd1 A T 16: 95,865,958 (GRCm39) S275T probably damaging Het
Cd8a T C 6: 71,350,775 (GRCm39) V80A possibly damaging Het
Dennd2b A T 7: 109,140,552 (GRCm39) S225T possibly damaging Het
Dnah5 A C 15: 28,383,738 (GRCm39) N2987H probably damaging Het
Dock9 A G 14: 121,918,763 (GRCm39) F78S probably damaging Het
Eml3 A G 19: 8,918,659 (GRCm39) T885A possibly damaging Het
Esr1 T C 10: 4,662,817 (GRCm39) V145A probably benign Het
Gm5108 A G 5: 68,101,953 (GRCm39) probably benign Het
Gpr179 T C 11: 97,229,882 (GRCm39) S758G probably benign Het
Heatr1 T A 13: 12,423,617 (GRCm39) L538Q probably damaging Het
Ikzf2 A G 1: 69,578,546 (GRCm39) I176T probably damaging Het
Lrp3 A G 7: 34,902,747 (GRCm39) V533A probably damaging Het
Nkx2-5 A T 17: 27,058,063 (GRCm39) V297E possibly damaging Het
Or13a19 G A 7: 139,902,827 (GRCm39) V72I probably benign Het
Or2y16 T C 11: 49,335,353 (GRCm39) L225P probably damaging Het
Or8g23 T C 9: 38,971,918 (GRCm39) T15A probably benign Het
Pclo T A 5: 14,728,549 (GRCm39) probably benign Het
Pdgfra T C 5: 75,324,435 (GRCm39) W97R possibly damaging Het
Plekha5 T C 6: 140,372,250 (GRCm39) Y67H probably damaging Het
Plin5 A T 17: 56,422,549 (GRCm39) probably null Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Prickle1 T A 15: 93,400,898 (GRCm39) K529* probably null Het
Ptbp2 G A 3: 119,519,746 (GRCm39) T107I probably damaging Het
Ptpn12 C T 5: 21,214,544 (GRCm39) W197* probably null Het
Rhobtb1 T C 10: 69,105,819 (GRCm39) V128A probably damaging Het
Ryr2 T C 13: 11,618,618 (GRCm39) T3866A probably damaging Het
Serpina3m T C 12: 104,355,509 (GRCm39) Y59H probably damaging Het
Slc12a6 T C 2: 112,172,343 (GRCm39) V414A possibly damaging Het
Slc34a1 T C 13: 55,561,278 (GRCm39) M581T probably benign Het
Slco1c1 A G 6: 141,515,040 (GRCm39) Y596C probably damaging Het
Stoml1 T C 9: 58,168,123 (GRCm39) L278P probably benign Het
Tecpr2 C T 12: 110,897,945 (GRCm39) A399V possibly damaging Het
Tmem229a T C 6: 24,955,016 (GRCm39) E246G probably damaging Het
Vmn1r224 A T 17: 20,639,953 (GRCm39) I177L probably benign Het
Zswim5 C T 4: 116,842,000 (GRCm39) T860I probably benign Het
Other mutations in Clec4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:Clec4a3 APN 6 122,929,819 (GRCm39) utr 5 prime probably benign
IGL02210:Clec4a3 APN 6 122,931,067 (GRCm39) missense probably damaging 0.98
IGL02874:Clec4a3 APN 6 122,944,519 (GRCm39) missense probably benign 0.16
IGL02983:Clec4a3 APN 6 122,944,526 (GRCm39) critical splice donor site probably null
R0035:Clec4a3 UTSW 6 122,944,508 (GRCm39) missense probably damaging 1.00
R0035:Clec4a3 UTSW 6 122,944,508 (GRCm39) missense probably damaging 1.00
R0334:Clec4a3 UTSW 6 122,946,329 (GRCm39) missense possibly damaging 0.81
R0671:Clec4a3 UTSW 6 122,930,993 (GRCm39) critical splice acceptor site probably null
R1508:Clec4a3 UTSW 6 122,944,467 (GRCm39) missense probably benign 0.05
R1739:Clec4a3 UTSW 6 122,931,000 (GRCm39) nonsense probably null
R3547:Clec4a3 UTSW 6 122,941,239 (GRCm39) missense probably damaging 1.00
R5953:Clec4a3 UTSW 6 122,946,451 (GRCm39) missense probably benign 0.12
R7178:Clec4a3 UTSW 6 122,941,251 (GRCm39) missense probably benign 0.02
R7664:Clec4a3 UTSW 6 122,943,381 (GRCm39) missense probably benign 0.03
R7763:Clec4a3 UTSW 6 122,941,299 (GRCm39) missense probably benign 0.01
R8739:Clec4a3 UTSW 6 122,944,508 (GRCm39) missense probably damaging 1.00
R8925:Clec4a3 UTSW 6 122,946,328 (GRCm39) missense probably damaging 1.00
R8927:Clec4a3 UTSW 6 122,946,328 (GRCm39) missense probably damaging 1.00
R8955:Clec4a3 UTSW 6 122,943,479 (GRCm39) missense possibly damaging 0.94
R9457:Clec4a3 UTSW 6 122,931,045 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- AATGCATTTTCTGTCCGCGATAC -3'
(R):5'- CTGTCTACAGGCAACACACTTGG -3'

Sequencing Primer
(F):5'- GATACTCCCTTTGCAGGCCAG -3'
(R):5'- AACACACTTGGCTGAGGCTC -3'
Posted On 2016-12-20