Incidental Mutation 'R9596:Clec10a'
ID 723289
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 # R9596 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 70057449-70061662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70059973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 65 (D65V)
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: D65V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000327
Gene: ENSMUSG00000000318
AA Change: D65V

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: D64V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099631
Gene: ENSMUSG00000000318
AA Change: D64V

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: D27V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136500
Gene: ENSMUSG00000000318
AA Change: D27V

DomainStartEndE-ValueType
Pfam:Lectin_N 19 126 2e-35 PFAM
CLECT 136 212 1.16e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152635
AA Change: D27V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: D65V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137447
Gene: ENSMUSG00000000318
AA Change: D65V

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: 99.1%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp G T 1: 74,320,262 (GRCm39) Q355K probably benign Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
AI661453 T C 17: 47,780,411 (GRCm39) S188P unknown Het
Atp10a A G 7: 58,477,553 (GRCm39) S1251G probably damaging Het
Ccr10 A G 11: 101,065,018 (GRCm39) F171L probably benign Het
Clybl A T 14: 122,548,768 (GRCm39) I57L probably benign Het
Col5a1 G T 2: 27,819,551 (GRCm39) E218* probably null Het
Diaph1 G A 18: 38,024,111 (GRCm39) P576S unknown Het
Dsg1c T A 18: 20,416,361 (GRCm39) I754N probably benign Het
Fam47e G C 5: 92,726,395 (GRCm39) R111P probably benign Het
Fastkd3 G A 13: 68,735,806 (GRCm39) V519M probably damaging Het
Fhod3 T A 18: 25,193,392 (GRCm39) Y634* probably null Het
Frem3 G A 8: 81,341,951 (GRCm39) V1415I probably benign Het
Herc2 G A 7: 55,834,595 (GRCm39) S3191N Het
Kif19a A T 11: 114,676,752 (GRCm39) E527V probably benign Het
Lmbr1 C A 5: 29,440,105 (GRCm39) G420* probably null Het
Map3k9 A G 12: 81,777,404 (GRCm39) S526P probably damaging Het
Mink1 T A 11: 70,497,915 (GRCm39) L506Q possibly damaging Het
Mroh9 T C 1: 162,893,576 (GRCm39) I200V probably damaging Het
Mrps14 T C 1: 160,027,122 (GRCm39) V110A possibly damaging Het
Mta1 A G 12: 113,090,470 (GRCm39) Q209R probably damaging Het
Mtss2 G A 8: 111,458,689 (GRCm39) S195N Het
Nlgn1 T A 3: 25,488,587 (GRCm39) I583F probably damaging Het
Ntng1 T C 3: 110,042,956 (GRCm39) probably benign Het
Or10w1 A G 19: 13,632,002 (GRCm39) S70G probably damaging Het
Or1p1c C T 11: 74,160,289 (GRCm39) H25Y probably benign Het
Or2ag13 A T 7: 106,313,412 (GRCm39) Y159N probably benign Het
Or5ac25 A G 16: 59,181,942 (GRCm39) I213T possibly damaging Het
Or6c65 A G 10: 129,603,988 (GRCm39) T208A probably damaging Het
Pcdha12 A T 18: 37,154,302 (GRCm39) L340F probably benign Het
Pdk4 T A 6: 5,491,842 (GRCm39) M173L probably benign Het
Pds5a A G 5: 65,772,830 (GRCm39) S1258P probably benign Het
Plcd1 A T 9: 118,917,183 (GRCm39) L22Q probably benign Het
Prag1 A G 8: 36,570,113 (GRCm39) D232G probably damaging Het
Rest C T 5: 77,423,141 (GRCm39) T315M probably damaging Het
Scrn2 G A 11: 96,923,907 (GRCm39) V264M probably damaging Het
Sipa1l3 C A 7: 29,031,691 (GRCm39) V1513F probably benign Het
Skic3 T C 13: 76,330,968 (GRCm39) V1466A possibly damaging Het
Slc44a1 T A 4: 53,544,553 (GRCm39) N421K probably benign Het
Smc6 G T 12: 11,345,045 (GRCm39) R662I probably damaging Het
Spata31e5 C A 1: 28,815,688 (GRCm39) M781I probably benign Het
Srcap T A 7: 127,131,036 (GRCm39) W751R probably damaging Het
Sv2b A G 7: 74,767,462 (GRCm39) F645L probably damaging Het
Sycp2 A G 2: 177,990,212 (GRCm39) probably null Het
Syne4 A G 7: 30,014,504 (GRCm39) T41A probably benign Het
Tns3 G A 11: 8,401,142 (GRCm39) T1052M possibly damaging Het
Trap1 A T 16: 3,871,374 (GRCm39) I381N probably damaging Het
Tshz1 A G 18: 84,031,904 (GRCm39) S835P possibly damaging Het
Ube3b T A 5: 114,527,171 (GRCm39) W130R probably damaging Het
Ubr5 G A 15: 37,986,213 (GRCm39) T2207I Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r11 T G 5: 109,201,563 (GRCm39) I314L possibly damaging Het
Vmn2r15 T A 5: 109,440,791 (GRCm39) I356L probably benign Het
Vmn2r31 G T 7: 7,397,292 (GRCm39) T322N probably benign Het
Vmn2r8 A T 5: 108,947,196 (GRCm39) F519I possibly damaging Het
Wdr35 T C 12: 9,036,092 (GRCm39) F288L probably benign Het
Xab2 A T 8: 3,663,018 (GRCm39) V521D probably damaging Het
Zfp639 T C 3: 32,574,269 (GRCm39) F298S probably damaging Het
Zfp786 G A 6: 47,797,406 (GRCm39) R511* probably null Het
Zfp936 T A 7: 42,839,834 (GRCm39) C434S probably damaging Het
Zranb1 T C 7: 132,552,146 (GRCm39) F266L 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
R9407:Clec10a UTSW 11 70,060,155 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGCCTCGGTTTATGCGTG -3'
(R):5'- GATCCTCCACATCCACTTTCAGAG -3'

Sequencing Primer
(F):5'- CGTGTGCAATGTTGGGTAAC -3'
(R):5'- CAGAGAACTGATCCCTTTTTCGAAGC -3'
Posted On 2022-08-09