Incidental Mutation 'R1539:Clec10a'
ID 171583
Institutional Source Beutler Lab
Gene Symbol Clec10a
Ensembl Gene ENSMUSG00000000318
Gene Name C-type lectin domain family 10, member A
Synonyms CD301a, Mgl1
MMRRC Submission 039578-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1539 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70057449-70061662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70060645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 167 (N167Y)
Ref Sequence ENSEMBL: ENSMUSP00000137447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000327] [ENSMUST00000102571] [ENSMUST00000144935] [ENSMUST00000152635] [ENSMUST00000153959] [ENSMUST00000178945] [ENSMUST00000178567]
AlphaFold P49300
Predicted Effect probably damaging
Transcript: ENSMUST00000000327
AA Change: N167Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000327
Gene: ENSMUSG00000000318
AA Change: N167Y

DomainStartEndE-ValueType
Pfam:Lectin_N 1 164 8.5e-64 PFAM
CLECT 174 298 1.24e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102571
AA Change: N166Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099631
Gene: ENSMUSG00000000318
AA Change: N166Y

DomainStartEndE-ValueType
Pfam:Lectin_N 1 163 3.9e-65 PFAM
CLECT 173 297 1.24e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143298
Predicted Effect probably damaging
Transcript: ENSMUST00000144935
AA Change: N129Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136500
Gene: ENSMUSG00000000318
AA Change: N129Y

DomainStartEndE-ValueType
Pfam:Lectin_N 19 126 2e-35 PFAM
CLECT 136 212 1.16e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150966
Predicted Effect probably benign
Transcript: ENSMUST00000152635
Predicted Effect probably damaging
Transcript: ENSMUST00000153959
AA Change: N44Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117772
Gene: ENSMUSG00000000318
AA Change: N44Y

DomainStartEndE-ValueType
Pfam:Lectin_N 1 41 6e-19 PFAM
Pfam:Lectin_C 68 102 2.3e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178945
AA Change: N167Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137447
Gene: ENSMUSG00000000318
AA Change: N167Y

DomainStartEndE-ValueType
Pfam:Lectin_N 7 164 3.6e-51 PFAM
CLECT 174 292 1e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180106
Predicted Effect probably benign
Transcript: ENSMUST00000178567
SMART Domains Protein: ENSMUSP00000136322
Gene: ENSMUSG00000000318

DomainStartEndE-ValueType
Pfam:Lectin_N 1 57 1.5e-26 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit elevated red blood cell counts but appear to be otherwise normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,652,097 (GRCm39) probably null Het
Adh7 A C 3: 137,929,716 (GRCm39) T131P possibly damaging Het
Agxt G A 1: 93,065,701 (GRCm39) G190D probably damaging Het
AI182371 A G 2: 34,978,815 (GRCm39) I193T probably damaging Het
Akna T A 4: 63,297,547 (GRCm39) T836S probably benign Het
Alox12 T C 11: 70,144,069 (GRCm39) probably null Het
Anapc2 C A 2: 25,163,075 (GRCm39) T104K probably benign Het
Ank1 T C 8: 23,583,935 (GRCm39) L346P probably damaging Het
Ankfn1 A T 11: 89,332,217 (GRCm39) I443N probably damaging Het
Arhgef17 G A 7: 100,539,680 (GRCm39) T1066I probably damaging Het
Atg2a C A 19: 6,296,801 (GRCm39) probably null Het
Bpifb5 T A 2: 154,065,776 (GRCm39) H24Q probably benign Het
Brd9 A G 13: 74,092,862 (GRCm39) E283G probably damaging Het
Cadm2 C A 16: 66,581,727 (GRCm39) V184F probably damaging Het
Casr A G 16: 36,315,499 (GRCm39) V857A probably benign Het
Ccdc18 A T 5: 108,339,843 (GRCm39) Q796L probably damaging Het
Cep290 T C 10: 100,332,690 (GRCm39) V263A probably benign Het
Cog1 A G 11: 113,543,058 (GRCm39) I189V possibly damaging Het
Commd2 A G 3: 57,554,269 (GRCm39) I144T probably benign Het
Cse1l A G 2: 166,768,292 (GRCm39) T197A probably benign Het
Csmd3 A T 15: 47,683,794 (GRCm39) S1783R probably benign Het
Cxxc1 T C 18: 74,352,278 (GRCm39) V334A possibly damaging Het
Dennd2d A G 3: 106,394,236 (GRCm39) I39V probably benign Het
Dgkz G A 2: 91,768,405 (GRCm39) P734S probably damaging Het
Diaph3 T C 14: 86,893,916 (GRCm39) D31G probably damaging Het
Dlec1 T C 9: 118,956,518 (GRCm39) S731P probably benign Het
Dmac2l G A 12: 69,787,845 (GRCm39) D94N probably benign Het
Dnah11 T C 12: 117,894,991 (GRCm39) R3619G probably benign Het
Doc2b A G 11: 75,662,783 (GRCm39) L405P probably damaging Het
Dock3 A T 9: 106,829,563 (GRCm39) I1117N probably damaging Het
Dock3 G A 9: 106,874,112 (GRCm39) A453V probably benign Het
Ece2 T A 16: 20,461,263 (GRCm39) I474N probably damaging Het
Etv4 A T 11: 101,662,513 (GRCm39) probably null Het
Fam171b A T 2: 83,710,442 (GRCm39) M705L probably benign Het
Frem2 T C 3: 53,561,631 (GRCm39) K959E probably benign Het
Fyn T C 10: 39,408,066 (GRCm39) M251T possibly damaging Het
Galnt13 G A 2: 54,747,869 (GRCm39) G250E probably damaging Het
Ggh T C 4: 20,054,204 (GRCm39) probably null Het
Glcci1 A G 6: 8,591,620 (GRCm39) E222G probably damaging Het
Gm1968 G A 16: 29,777,659 (GRCm39) noncoding transcript Het
Gm3604 T A 13: 62,519,414 (GRCm39) I52F possibly damaging Het
Gm43302 T C 5: 105,422,635 (GRCm39) I466V probably benign Het
Gm9789 T C 16: 88,955,034 (GRCm39) S48P unknown Het
Gpat3 A T 5: 101,031,254 (GRCm39) Y136F probably benign Het
Gpr171 T C 3: 59,005,142 (GRCm39) D211G possibly damaging Het
Grep1 T A 17: 23,936,118 (GRCm39) probably benign Het
Hs3st1 T C 5: 39,771,791 (GRCm39) K284R probably benign Het
Htr2a C T 14: 74,882,608 (GRCm39) A198V possibly damaging Het
Ice1 C A 13: 70,754,023 (GRCm39) D688Y probably damaging Het
Jade1 T C 3: 41,559,431 (GRCm39) M504T probably benign Het
Lrp1 T C 10: 127,420,250 (GRCm39) probably null Het
Lsr A T 7: 30,671,517 (GRCm39) I72N possibly damaging Het
Magel2 G A 7: 62,028,557 (GRCm39) R487H possibly damaging Het
Mertk A G 2: 128,624,446 (GRCm39) D619G probably benign Het
Myo1b A T 1: 51,838,722 (GRCm39) V245E probably damaging Het
Myrip T A 9: 120,253,689 (GRCm39) L254Q probably benign Het
Nav3 A G 10: 109,603,031 (GRCm39) S1173P probably damaging Het
Ncoa7 T C 10: 30,647,725 (GRCm39) Y17C probably damaging Het
Ncor2 T C 5: 125,187,003 (GRCm39) E7G probably benign Het
Ninl A G 2: 150,817,867 (GRCm39) V99A probably damaging Het
Noct G T 3: 51,155,333 (GRCm39) E34* probably null Het
Notch1 A T 2: 26,362,125 (GRCm39) Y1043* probably null Het
Or10v1 T C 19: 11,873,855 (GRCm39) S157P possibly damaging Het
Or13a21 T A 7: 139,999,326 (GRCm39) Y120F probably benign Het
Or2d3 A G 7: 106,490,483 (GRCm39) Y278H probably damaging Het
Or6c88 G A 10: 129,406,640 (GRCm39) G39R probably damaging Het
Pde7b C A 10: 20,355,432 (GRCm39) R104L possibly damaging Het
Pkn1 C A 8: 84,396,966 (GRCm39) R890L possibly damaging Het
Podn A T 4: 107,878,764 (GRCm39) Y368N probably damaging Het
Polr1b G A 2: 128,960,019 (GRCm39) probably null Het
Ppp1r3c A T 19: 36,711,361 (GRCm39) F136L probably benign Het
Ppp2ca T A 11: 52,011,800 (GRCm39) F260Y probably damaging Het
Prss39 A G 1: 34,537,616 (GRCm39) S27G possibly damaging Het
Ptch1 A G 13: 63,689,101 (GRCm39) V340A probably benign Het
Ranbp17 T C 11: 33,247,394 (GRCm39) I246V probably damaging Het
Rilpl1 T A 5: 124,653,618 (GRCm39) D181V probably damaging Het
Sdk1 T A 5: 142,080,354 (GRCm39) V1282D probably damaging Het
Sh3rf2 T C 18: 42,282,887 (GRCm39) S514P probably damaging Het
Slc35f2 A T 9: 53,716,992 (GRCm39) I252F possibly damaging Het
Slc7a1 A G 5: 148,272,403 (GRCm39) Y425H possibly damaging Het
Spaca4 G T 7: 45,374,984 (GRCm39) probably benign Het
Spata31d1b T C 13: 59,863,733 (GRCm39) S294P possibly damaging Het
Ssh1 T G 5: 114,090,064 (GRCm39) T342P probably damaging Het
Stk10 T A 11: 32,483,440 (GRCm39) S13T possibly damaging Het
Tbx1 G T 16: 18,402,843 (GRCm39) D214E probably benign Het
Tdp1 A G 12: 99,878,571 (GRCm39) E453G probably damaging Het
Tlr1 T C 5: 65,084,319 (GRCm39) Y86C probably damaging Het
Tmem241 A T 18: 12,176,297 (GRCm39) C124S possibly damaging Het
Trp63 A G 16: 25,703,599 (GRCm39) M516V probably benign Het
Ttc28 T C 5: 111,248,677 (GRCm39) V210A possibly damaging Het
Tut1 C T 19: 8,942,850 (GRCm39) R646W probably benign Het
Ubald1 C T 16: 4,694,261 (GRCm39) E49K possibly damaging Het
Usp28 T C 9: 48,949,096 (GRCm39) Y897H probably benign Het
Vmn2r27 A C 6: 124,168,730 (GRCm39) F800C probably damaging Het
Vmn2r83 T A 10: 79,327,759 (GRCm39) M789K probably damaging Het
Vwa8 A G 14: 79,300,002 (GRCm39) D945G probably benign Het
Wdhd1 T A 14: 47,482,507 (GRCm39) K947N possibly damaging Het
Wdr12 A T 1: 60,123,007 (GRCm39) probably null Het
Xrra1 A T 7: 99,520,564 (GRCm39) E57V probably damaging Het
Other mutations in Clec10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02932:Clec10a APN 11 70,060,554 (GRCm39) splice site probably benign
IGL02945:Clec10a APN 11 70,061,368 (GRCm39) missense possibly damaging 0.94
R1264:Clec10a UTSW 11 70,060,567 (GRCm39) missense possibly damaging 0.95
R2113:Clec10a UTSW 11 70,060,650 (GRCm39) critical splice donor site probably null
R2567:Clec10a UTSW 11 70,060,358 (GRCm39) critical splice donor site probably null
R4597:Clec10a UTSW 11 70,060,806 (GRCm39) missense probably damaging 1.00
R4907:Clec10a UTSW 11 70,060,797 (GRCm39) missense probably benign 0.25
R4913:Clec10a UTSW 11 70,060,851 (GRCm39) missense probably damaging 1.00
R6577:Clec10a UTSW 11 70,061,436 (GRCm39) missense probably benign 0.08
R7538:Clec10a UTSW 11 70,060,604 (GRCm39) missense probably benign 0.39
R8184:Clec10a UTSW 11 70,060,642 (GRCm39) missense probably damaging 0.99
R9407:Clec10a UTSW 11 70,060,155 (GRCm39) missense probably damaging 1.00
R9596:Clec10a UTSW 11 70,059,973 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAAACAGGTGAGGCTGAGGTTCC -3'
(R):5'- TTCATGCTCCGTCCAGTGAAGC -3'

Sequencing Primer
(F):5'- CAGTGTGTGGAGACGGTCC -3'
(R):5'- TCCAGTGAAGCGGGCAG -3'
Posted On 2014-04-13