Incidental Mutation 'R9407:Clec10a'
ID 711603
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 70057449-70061662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 70060155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 98 (I98S)
Ref Sequence ENSEMBL: ENSMUSP00000137447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000327] [ENSMUST00000102571] [ENSMUST00000144935] [ENSMUST00000152635] [ENSMUST00000153959] [ENSMUST00000178567] [ENSMUST00000178945]
AlphaFold P49300
Predicted Effect probably damaging
Transcript: ENSMUST00000000327
AA Change: I98S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000327
Gene: ENSMUSG00000000318
AA Change: I98S

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: I97S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099631
Gene: ENSMUSG00000000318
AA Change: I97S

DomainStartEndE-ValueType
Pfam:Lectin_N 1 163 3.9e-65 PFAM
CLECT 173 297 1.24e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000144935
AA Change: I60S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136500
Gene: ENSMUSG00000000318
AA Change: I60S

DomainStartEndE-ValueType
Pfam:Lectin_N 19 126 2e-35 PFAM
CLECT 136 212 1.16e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152635
Predicted Effect probably benign
Transcript: ENSMUST00000153959
SMART Domains Protein: ENSMUSP00000117772
Gene: ENSMUSG00000000318

DomainStartEndE-ValueType
Pfam:Lectin_N 1 41 6e-19 PFAM
Pfam:Lectin_C 68 102 2.3e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178567
SMART Domains Protein: ENSMUSP00000136322
Gene: ENSMUSG00000000318

DomainStartEndE-ValueType
Pfam:Lectin_N 1 57 1.5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178945
AA Change: I98S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137447
Gene: ENSMUSG00000000318
AA Change: I98S

DomainStartEndE-ValueType
Pfam:Lectin_N 7 164 3.6e-51 PFAM
CLECT 174 292 1e-24 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik T C 14: 64,223,629 (GRCm39) Y49C probably damaging Het
Abca6 A T 11: 110,093,210 (GRCm39) L1021* probably null Het
Abcc9 A G 6: 142,574,229 (GRCm39) S1003P possibly damaging Het
Aldh4a1 A G 4: 139,372,345 (GRCm39) I505V probably benign Het
Brwd1 T C 16: 95,803,693 (GRCm39) D2159G possibly damaging Het
C1s2 T C 6: 124,602,454 (GRCm39) I586V probably benign Het
Cd300e C A 11: 114,946,171 (GRCm39) D97Y probably damaging Het
Celsr3 A G 9: 108,723,596 (GRCm39) D2877G probably damaging Het
Cep41 T C 6: 30,655,841 (GRCm39) N328D probably benign Het
Cldn15 G A 5: 137,003,765 (GRCm39) V227M probably damaging Het
Cpne4 A G 9: 104,749,963 (GRCm39) Q89R probably damaging Het
Cryba2 C A 1: 74,932,037 (GRCm39) A4S probably benign Het
Csmd2 G A 4: 128,442,613 (GRCm39) A3222T Het
Dapk1 C A 13: 60,898,991 (GRCm39) Y820* probably null Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Entrep3 C A 3: 89,094,645 (GRCm39) A416D possibly damaging Het
Gar1 A G 3: 129,620,608 (GRCm39) Y160H probably damaging Het
Gm21834 T A 17: 58,048,863 (GRCm39) I118L probably benign Het
Gtf2a1l G A 17: 89,001,531 (GRCm39) G129D probably damaging Het
Gzmb T A 14: 56,497,712 (GRCm39) Y176F probably benign Het
Helz2 T G 2: 180,881,975 (GRCm39) K273Q probably benign Het
Ifi207 T A 1: 173,555,234 (GRCm39) E816V probably damaging Het
Insr A C 8: 3,235,106 (GRCm39) D694E probably benign Het
Insyn2b G A 11: 34,352,072 (GRCm39) R38Q probably damaging Het
Ipcef1 A T 10: 6,870,036 (GRCm39) C172* probably null Het
Itgal T G 7: 126,921,796 (GRCm39) probably null Het
Laptm5 A T 4: 130,655,990 (GRCm39) M103L Het
Lypd4 A T 7: 24,566,160 (GRCm39) C55S probably null Het
Mccc1 A C 3: 36,030,865 (GRCm39) H400Q possibly damaging Het
Myl4 C T 11: 104,474,887 (GRCm39) R79W probably damaging Het
Myo18a A G 11: 77,709,596 (GRCm39) T569A probably benign Het
Or14a259 G C 7: 86,013,194 (GRCm39) S117* probably null Het
Or4c117 T A 2: 88,955,629 (GRCm39) T149S probably benign Het
Or5ak24 A G 2: 85,261,060 (GRCm39) S38P probably damaging Het
Otof T A 5: 30,538,265 (GRCm39) D1153V probably damaging Het
Pcdha12 A T 18: 37,153,614 (GRCm39) D111V probably damaging Het
Pomt2 G T 12: 87,157,146 (GRCm39) F724L probably damaging Het
Ros1 T A 10: 51,994,491 (GRCm39) Y1284F probably damaging Het
Skint6 T C 4: 113,034,224 (GRCm39) K301R possibly damaging Het
Slc30a5 T A 13: 100,951,214 (GRCm39) R223* probably null Het
Slc35a1 A T 4: 34,675,181 (GRCm39) V119E probably damaging Het
Slc6a11 A T 6: 114,220,914 (GRCm39) I482F probably damaging Het
Tektl1 T C 10: 78,583,128 (GRCm39) T419A probably damaging Het
Tgm1 A T 14: 55,942,991 (GRCm39) C616* probably null Het
Tiam2 T A 17: 3,553,298 (GRCm39) I1125N probably damaging Het
Tln2 T C 9: 67,136,732 (GRCm39) D1251G probably damaging Het
Tnfaip2 C G 12: 111,412,161 (GRCm39) S187R probably benign Het
Ush2a A G 1: 188,644,045 (GRCm39) Y4469C probably damaging Het
Vmn1r229 G C 17: 21,035,259 (GRCm39) C168S probably damaging Het
Vmn2r53 A G 7: 12,335,124 (GRCm39) S179P probably damaging Het
Zfp474 A C 18: 52,771,502 (GRCm39) I52L probably benign 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
R1539:Clec10a UTSW 11 70,060,645 (GRCm39) missense probably damaging 1.00
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
R9596:Clec10a UTSW 11 70,059,973 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCTTGGTTCTGATCATCCTG -3'
(R):5'- GTGCTCTCCAGAGAAGTCAC -3'

Sequencing Primer
(F):5'- CTTATCAGATTCCCAGTTAAGGAGGG -3'
(R):5'- GAAGTCACCTTCTGGCTCAAG -3'
Posted On 2022-05-16