Incidental Mutation 'IGL02945:Clec10a'
ID 364714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec10a
Ensembl Gene ENSMUSG00000000318
Gene Name C-type lectin domain family 10, member A
Synonyms CD301a, Mgl1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02945
Quality Score
Status
Chromosome 11
Chromosomal Location 70057449-70061662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70061368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 295 (I295F)
Ref Sequence ENSEMBL: ENSMUSP00000099631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000327] [ENSMUST00000102571] [ENSMUST00000144935] [ENSMUST00000152635] [ENSMUST00000153959] [ENSMUST00000178945] [ENSMUST00000178567]
AlphaFold P49300
Predicted Effect possibly damaging
Transcript: ENSMUST00000000327
AA Change: I296F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000327
Gene: ENSMUSG00000000318
AA Change: I296F

DomainStartEndE-ValueType
Pfam:Lectin_N 1 164 8.5e-64 PFAM
CLECT 174 298 1.24e-38 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102571
AA Change: I295F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099631
Gene: ENSMUSG00000000318
AA Change: I295F

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 benign
Transcript: ENSMUST00000144935
SMART Domains Protein: ENSMUSP00000136500
Gene: ENSMUSG00000000318

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 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 noncoding transcript
Transcript: ENSMUST00000180106
Predicted Effect probably benign
Transcript: ENSMUST00000178945
SMART Domains Protein: ENSMUSP00000137447
Gene: ENSMUSG00000000318

DomainStartEndE-ValueType
Pfam:Lectin_N 7 164 3.6e-51 PFAM
CLECT 174 292 1e-24 SMART
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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik A T 10: 51,633,095 (GRCm39) noncoding transcript Het
Adgrf4 T C 17: 42,978,257 (GRCm39) Q362R probably benign Het
Akap6 A G 12: 52,927,620 (GRCm39) N177D probably damaging Het
Alms1 A G 6: 85,597,915 (GRCm39) I914V probably damaging Het
Arhgap11a A T 2: 113,667,818 (GRCm39) S394R possibly damaging Het
Cacna1h C T 17: 25,607,033 (GRCm39) V962I probably damaging Het
Calr3 A T 8: 73,192,401 (GRCm39) L91Q probably damaging Het
Ccnf T C 17: 24,443,890 (GRCm39) E626G probably damaging Het
Cop1 A T 1: 159,134,259 (GRCm39) N167I probably benign Het
Csmd1 G T 8: 16,321,584 (GRCm39) Q505K possibly damaging Het
Ctrc A C 4: 141,573,563 (GRCm39) V6G possibly damaging Het
Cyp2c69 T C 19: 39,875,091 (GRCm39) R21G possibly damaging Het
Dnah5 A G 15: 28,270,572 (GRCm39) H958R probably benign Het
Egfr T A 11: 16,702,514 (GRCm39) L11Q probably damaging Het
Erich2 A G 2: 70,364,738 (GRCm39) T371A probably damaging Het
Fbxl21 T A 13: 56,674,983 (GRCm39) F111L probably damaging Het
Grik4 G T 9: 42,509,175 (GRCm39) T416N possibly damaging Het
Grin3a A G 4: 49,792,971 (GRCm39) V254A possibly damaging Het
Hat1 G A 2: 71,251,037 (GRCm39) R195K probably benign Het
Hmgb4 A C 4: 128,154,387 (GRCm39) Y60* probably null Het
Ighv12-3 A G 12: 114,330,337 (GRCm39) W53R probably damaging Het
Irs2 C A 8: 11,057,781 (GRCm39) C217F probably damaging Het
Kcnb1 T C 2: 167,030,308 (GRCm39) E79G probably benign Het
Lingo3 A G 10: 80,670,532 (GRCm39) I466T probably damaging Het
Lyst T C 13: 13,935,783 (GRCm39) S3665P possibly damaging Het
Myh9 A T 15: 77,646,205 (GRCm39) L1926Q probably benign Het
Myom1 A G 17: 71,399,088 (GRCm39) probably benign Het
Nbeal1 T C 1: 60,245,569 (GRCm39) F198L probably damaging Het
Nktr A G 9: 121,557,697 (GRCm39) T63A probably damaging Het
Nle1 A T 11: 82,794,910 (GRCm39) probably benign Het
Nr3c2 A T 8: 77,636,288 (GRCm39) D463V probably damaging Het
Or5k17 A T 16: 58,746,703 (GRCm39) I77N probably damaging Het
Or8b43 A G 9: 38,360,812 (GRCm39) I215V probably benign Het
Pcdhb18 T C 18: 37,623,048 (GRCm39) I126T probably benign Het
Pgm1 A G 4: 99,818,731 (GRCm39) I127V probably benign Het
Rai14 A G 15: 10,574,795 (GRCm39) I721T probably benign Het
Rps6ka1 A G 4: 133,594,510 (GRCm39) Y57H probably damaging Het
Scara3 T A 14: 66,168,660 (GRCm39) D319V probably damaging Het
Selp G A 1: 163,961,498 (GRCm39) G404S probably damaging Het
Serinc3 A G 2: 163,472,836 (GRCm39) probably benign Het
Slc4a8 A G 15: 100,705,080 (GRCm39) probably null Het
Spen G T 4: 141,221,624 (GRCm39) L325I unknown Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Thumpd1 A T 7: 119,315,970 (GRCm39) S326R possibly damaging Het
Tmem255b T C 8: 13,505,141 (GRCm39) S149P probably damaging Het
Tnni3k A T 3: 154,743,075 (GRCm39) S95T possibly damaging Het
Trim66 G A 7: 109,059,383 (GRCm39) Q954* probably null Het
Ttn A T 2: 76,582,316 (GRCm39) I22859N probably damaging Het
Zfp319 A T 8: 96,050,446 (GRCm39) probably benign Het
Other mutations in Clec10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02932:Clec10a APN 11 70,060,554 (GRCm39) splice site probably benign
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
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
Posted On 2015-12-18