Incidental Mutation 'R4024:Colec10'
ID 313422
Institutional Source Beutler Lab
Gene Symbol Colec10
Ensembl Gene ENSMUSG00000038591
Gene Name collectin sub-family member 10
Synonyms CL-L1
MMRRC Submission 041612-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4024 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 54274170-54329754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54325947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 259 (D259G)
Ref Sequence ENSEMBL: ENSMUSP00000037867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036737]
AlphaFold Q8CF98
Predicted Effect probably damaging
Transcript: ENSMUST00000036737
AA Change: D259G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037867
Gene: ENSMUSG00000038591
AA Change: D259G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Collagen 44 96 1.4e-9 PFAM
Pfam:Collagen 65 123 4.3e-10 PFAM
CLECT 148 271 1.09e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227121
Meta Mutation Damage Score 0.8726 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,215,251 (GRCm39) Y842H probably damaging Het
Adamts9 A G 6: 92,849,765 (GRCm39) probably benign Het
Adgrg7 A T 16: 56,550,661 (GRCm39) Y684N probably damaging Het
Aoc1 A T 6: 48,885,203 (GRCm39) N646I probably damaging Het
Armc2 A G 10: 41,869,054 (GRCm39) S37P probably benign Het
Bhmt2 G A 13: 93,799,839 (GRCm39) probably benign Het
Bpifb1 A T 2: 154,054,966 (GRCm39) D286V probably damaging Het
Cadps T A 14: 12,705,539 (GRCm38) E285D probably damaging Het
Cap2 C T 13: 46,791,317 (GRCm39) probably benign Het
Clcn4 T G 7: 7,293,427 (GRCm39) Y443S probably damaging Het
Clcn6 T A 4: 148,098,740 (GRCm39) T463S possibly damaging Het
Cmip A G 8: 118,174,155 (GRCm39) I412V possibly damaging Het
Cndp1 T C 18: 84,646,938 (GRCm39) D250G probably damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Dlec1 T C 9: 118,966,408 (GRCm39) Y1126H probably damaging Het
Dzank1 T C 2: 144,324,147 (GRCm39) S565G probably benign Het
Eef2k A G 7: 120,457,821 (GRCm39) Y60C probably benign Het
Fbxl4 T C 4: 22,377,074 (GRCm39) V170A possibly damaging Het
Foxk2 T A 11: 121,176,439 (GRCm39) I195N possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gpr6 G A 10: 40,947,264 (GRCm39) T106M probably damaging Het
Grk3 T A 5: 113,062,850 (GRCm39) N666Y possibly damaging Het
Hnmt T C 2: 23,893,777 (GRCm39) D239G probably benign Het
Igf2 A G 7: 142,208,044 (GRCm39) V111A probably benign Het
Lrriq3 G A 3: 154,893,939 (GRCm39) E547K probably benign Het
Lrriq4 T C 3: 30,704,422 (GRCm39) V150A possibly damaging Het
Mroh8 A G 2: 157,098,272 (GRCm39) V292A probably benign Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Nisch A G 14: 30,898,776 (GRCm39) probably benign Het
Nkx2-2 T C 2: 147,026,154 (GRCm39) T195A probably benign Het
Or10aa3 C T 1: 173,878,683 (GRCm39) T248I probably benign Het
Or2t47 G A 11: 58,442,222 (GRCm39) T281I possibly damaging Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Or8w1 T A 2: 87,465,499 (GRCm39) L197F probably damaging Het
Plekhn1 A G 4: 156,309,207 (GRCm39) V233A probably damaging Het
Ppp3r1 T C 11: 17,144,786 (GRCm39) V133A probably damaging Het
Sash1 T C 10: 8,605,681 (GRCm39) D903G probably benign Het
Scn8a A G 15: 100,937,674 (GRCm39) D1681G probably damaging Het
Slk A G 19: 47,610,809 (GRCm39) probably null Het
Tasor2 T C 13: 3,634,554 (GRCm39) D751G probably damaging Het
Tlr11 C T 14: 50,600,303 (GRCm39) T763I probably benign Het
Ttbk2 T C 2: 120,590,736 (GRCm39) T308A possibly damaging Het
Tyk2 G A 9: 21,027,215 (GRCm39) L552F probably damaging Het
Ubp1 A G 9: 113,773,951 (GRCm39) D50G probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A T 9: 120,873,915 (GRCm39) I1172N possibly damaging Het
Usf3 T A 16: 44,036,528 (GRCm39) V336E possibly damaging Het
Vangl2 T C 1: 171,835,608 (GRCm39) S355G probably benign Het
Vmn1r216 A G 13: 23,284,061 (GRCm39) D248G probably damaging Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Vmn2r120 T A 17: 57,843,718 (GRCm39) D42V possibly damaging Het
Vmn2r6 A T 3: 64,445,671 (GRCm39) S685T possibly damaging Het
Vsig10l T C 7: 43,117,510 (GRCm39) V701A probably benign Het
Wdfy3 A G 5: 102,071,961 (GRCm39) probably benign Het
Zfp808 T A 13: 62,319,544 (GRCm39) C258S possibly damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q probably benign Het
Other mutations in Colec10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Colec10 APN 15 54,323,157 (GRCm39) missense probably damaging 0.98
BB002:Colec10 UTSW 15 54,325,767 (GRCm39) missense probably damaging 0.97
BB012:Colec10 UTSW 15 54,325,767 (GRCm39) missense probably damaging 0.97
R0004:Colec10 UTSW 15 54,274,271 (GRCm39) missense possibly damaging 0.57
R0060:Colec10 UTSW 15 54,302,542 (GRCm39) splice site probably benign
R0060:Colec10 UTSW 15 54,302,542 (GRCm39) splice site probably benign
R0827:Colec10 UTSW 15 54,325,980 (GRCm39) missense probably damaging 1.00
R1238:Colec10 UTSW 15 54,325,835 (GRCm39) missense possibly damaging 0.75
R1551:Colec10 UTSW 15 54,325,658 (GRCm39) missense probably damaging 1.00
R2371:Colec10 UTSW 15 54,325,796 (GRCm39) missense possibly damaging 0.84
R4023:Colec10 UTSW 15 54,325,947 (GRCm39) missense probably damaging 1.00
R4628:Colec10 UTSW 15 54,323,127 (GRCm39) missense possibly damaging 0.68
R5893:Colec10 UTSW 15 54,274,185 (GRCm39) missense probably benign 0.18
R6062:Colec10 UTSW 15 54,323,203 (GRCm39) missense possibly damaging 0.93
R6489:Colec10 UTSW 15 54,325,609 (GRCm39) splice site probably null
R6775:Colec10 UTSW 15 54,298,419 (GRCm39) missense possibly damaging 0.95
R6928:Colec10 UTSW 15 54,326,002 (GRCm39) missense probably damaging 1.00
R7124:Colec10 UTSW 15 54,325,767 (GRCm39) missense probably damaging 0.97
R7925:Colec10 UTSW 15 54,325,767 (GRCm39) missense probably damaging 0.97
R8208:Colec10 UTSW 15 54,325,696 (GRCm39) missense possibly damaging 0.62
R8363:Colec10 UTSW 15 54,274,238 (GRCm39) missense probably benign
R8691:Colec10 UTSW 15 54,298,420 (GRCm39) missense probably benign 0.01
R9495:Colec10 UTSW 15 54,325,761 (GRCm39) missense probably damaging 0.97
R9712:Colec10 UTSW 15 54,323,180 (GRCm39) missense possibly damaging 0.77
RF003:Colec10 UTSW 15 54,325,787 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- CCAAGAGTGGTTTCTTCAGAGTG -3'
(R):5'- AAGGTCTCCAAGAGTGTTCCAAG -3'

Sequencing Primer
(F):5'- CTTCAGAGTGTTCATTGGGGTC -3'
(R):5'- GGTCTCCAAGAGTGTTCCAAGTAAAC -3'
Posted On 2015-04-30