Incidental Mutation 'R6260:Clec16a'
ID 506653
Institutional Source Beutler Lab
Gene Symbol Clec16a
Ensembl Gene ENSMUSG00000068663
Gene Name C-type lectin domain family 16, member A
Synonyms curt, 4932416N17Rik
MMRRC Submission 044377-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6260 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 10363203-10562742 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 10512712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038145] [ENSMUST00000066345] [ENSMUST00000115823] [ENSMUST00000115824] [ENSMUST00000115827] [ENSMUST00000115828] [ENSMUST00000155633]
AlphaFold Q80U30
Predicted Effect unknown
Transcript: ENSMUST00000038145
AA Change: A899V
SMART Domains Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663
AA Change: A899V

DomainStartEndE-ValueType
Pfam:FPL 51 199 9.2e-61 PFAM
low complexity region 395 408 N/A INTRINSIC
low complexity region 897 912 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066345
SMART Domains Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 1.1e-60 PFAM
coiled coil region 398 419 N/A INTRINSIC
low complexity region 877 924 N/A INTRINSIC
low complexity region 943 955 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115823
SMART Domains Protein: ENSMUSP00000111489
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
low complexity region 456 491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115824
SMART Domains Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 198 5.9e-66 PFAM
coiled coil region 398 419 N/A INTRINSIC
low complexity region 877 924 N/A INTRINSIC
low complexity region 943 955 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115827
SMART Domains Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 8.7e-61 PFAM
low complexity region 395 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115828
SMART Domains Protein: ENSMUSP00000111494
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 2.1e-61 PFAM
low complexity region 395 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155633
SMART Domains Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 1.1e-60 PFAM
coiled coil region 396 417 N/A INTRINSIC
low complexity region 875 922 N/A INTRINSIC
low complexity region 941 953 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
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-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a spontaneous mutation have a curved tail, small body size, squinting eyes, crooked digits that curve outward, and premature death. [provided by MGI curators]
Allele List at MGI

All alleles(13) : Gene trapped(13)

Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,844,821 (GRCm39) N1514K probably damaging Het
Abcb4 G T 5: 8,984,219 (GRCm39) G650* probably null Het
Acsbg1 T A 9: 54,535,751 (GRCm39) probably null Het
Alms1 A T 6: 85,605,717 (GRCm39) K2456* probably null Het
Alppl2 A T 1: 87,016,184 (GRCm39) M225K probably damaging Het
Ank2 C T 3: 126,737,206 (GRCm39) V2806I probably benign Het
Atxn10 A T 15: 85,346,612 (GRCm39) I457F probably benign Het
Cad G T 5: 31,224,144 (GRCm39) M800I probably null Het
Carmil3 T A 14: 55,737,889 (GRCm39) L815Q probably damaging Het
Ccz1 A G 5: 143,940,859 (GRCm39) probably null Het
Cdc73 G A 1: 143,567,211 (GRCm39) T104I probably benign Het
Cfap52 A T 11: 67,829,780 (GRCm39) C330S possibly damaging Het
Cntn3 A G 6: 102,254,178 (GRCm39) probably null Het
Crocc2 A G 1: 93,141,360 (GRCm39) K1171R possibly damaging Het
Ctsa T C 2: 164,676,281 (GRCm39) V86A probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddhd2 A G 8: 26,242,144 (GRCm39) F244L probably benign Het
Ddn A G 15: 98,703,735 (GRCm39) V519A possibly damaging Het
Dip2b G T 15: 100,060,583 (GRCm39) V253L probably benign Het
Dnah17 C A 11: 118,017,148 (GRCm39) W197C probably damaging Het
Dnah17 A T 11: 118,017,150 (GRCm39) W197R probably damaging Het
Dnah17 C T 11: 118,017,149 (GRCm39) W197* probably null Het
Ercc6 T A 14: 32,279,813 (GRCm39) D609E probably benign Het
Erg C A 16: 95,181,100 (GRCm39) R147L probably damaging Het
Fbxo41 A T 6: 85,455,537 (GRCm39) L549H probably damaging Het
Foxd4 A G 19: 24,876,968 (GRCm39) S411P probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Galntl6 T A 8: 58,337,515 (GRCm39) D135V probably damaging Het
Gm1043 G C 5: 37,331,816 (GRCm39) G832A probably benign Het
Gm21103 C T 14: 17,484,841 (GRCm39) E68K probably damaging Het
Gpam A G 19: 55,071,838 (GRCm39) V301A probably benign Het
H2-M10.1 T A 17: 36,634,994 (GRCm39) I304F unknown Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jak3 C A 8: 72,131,954 (GRCm39) Q177K probably benign Het
Kcnu1 G A 8: 26,341,919 (GRCm39) R88H probably damaging Het
Kng1 A T 16: 22,877,371 (GRCm39) I60F possibly damaging Het
Krt77 A T 15: 101,772,807 (GRCm39) Y257* probably null Het
Lcor G T 19: 41,570,810 (GRCm39) S1I possibly damaging Het
Lcor A T 19: 41,570,809 (GRCm39) S1C probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Map4k5 C A 12: 69,878,336 (GRCm39) R355L probably benign Het
Mefv C T 16: 3,530,898 (GRCm39) R498H probably benign Het
Mical3 A T 6: 120,985,991 (GRCm39) L150Q probably damaging Het
Mtcl1 T A 17: 66,650,536 (GRCm39) Q1340L probably damaging Het
Nfic A T 10: 81,256,351 (GRCm39) C126* probably null Het
Nisch T A 14: 30,899,085 (GRCm39) probably benign Het
Nt5dc3 A G 10: 86,647,395 (GRCm39) Y130C probably damaging Het
Or2ag1b A T 7: 106,288,079 (GRCm39) N286K probably damaging Het
Or4f15 C T 2: 111,814,396 (GRCm39) V8I probably benign Het
Or6c65 C A 10: 129,603,389 (GRCm39) T8K probably benign Het
Pcdhb12 T C 18: 37,569,892 (GRCm39) V346A probably benign Het
Pla2g4a A G 1: 149,733,238 (GRCm39) S504P probably benign Het
Plin2 G T 4: 86,575,526 (GRCm39) A341D probably damaging Het
Plxnb2 A T 15: 89,049,494 (GRCm39) I575N probably benign Het
Pnma8b T G 7: 16,680,158 (GRCm39) W381G probably benign Het
Psma8 A G 18: 14,854,324 (GRCm39) D68G probably damaging Het
Rcor3 G A 1: 191,808,559 (GRCm39) H207Y probably benign Het
Rwdd2b C A 16: 87,231,356 (GRCm39) G266V probably damaging Het
Ryr3 A G 2: 112,490,449 (GRCm39) F3795S probably damaging Het
Slc28a2b A T 2: 122,353,963 (GRCm39) I530F probably damaging Het
Sord T A 2: 122,089,613 (GRCm39) probably null Het
Spdl1 T A 11: 34,710,713 (GRCm39) N345I probably damaging Het
St8sia2 T A 7: 73,626,441 (GRCm39) R42S possibly damaging Het
Syt9 G T 7: 107,035,717 (GRCm39) V245F possibly damaging Het
Tbpl2 T A 2: 23,984,898 (GRCm39) N82I possibly damaging Het
Tcerg1 T A 18: 42,686,530 (GRCm39) Y696N probably damaging Het
Thsd7b A G 1: 129,595,655 (GRCm39) T492A probably benign Het
Timm13 A C 10: 80,736,135 (GRCm39) probably benign Het
Trdmt1 T A 2: 13,524,870 (GRCm39) Q195L probably benign Het
Ttc27 T A 17: 75,165,086 (GRCm39) V764D probably damaging Het
Ttc39d C A 17: 80,524,076 (GRCm39) S245* probably null Het
Ttc41 A G 10: 86,567,023 (GRCm39) E563G probably benign Het
Ttc41 A T 10: 86,569,571 (GRCm39) T650S probably benign Het
U2surp A C 9: 95,358,210 (GRCm39) L723R probably damaging Het
Ubqln3 G A 7: 103,791,524 (GRCm39) Q189* probably null Het
Vezf1 A G 11: 87,972,326 (GRCm39) N229S probably damaging Het
Vmn2r79 T A 7: 86,686,365 (GRCm39) M582K probably benign Het
Zfp518a A G 19: 40,902,567 (GRCm39) D832G probably benign Het
Zfyve28 T C 5: 34,356,216 (GRCm39) N762D probably damaging Het
Other mutations in Clec16a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Clec16a APN 16 10,413,760 (GRCm39) missense probably damaging 1.00
IGL00503:Clec16a APN 16 10,512,513 (GRCm39) missense possibly damaging 0.53
IGL01622:Clec16a APN 16 10,395,774 (GRCm39) missense possibly damaging 0.47
IGL01623:Clec16a APN 16 10,395,774 (GRCm39) missense possibly damaging 0.47
IGL02008:Clec16a APN 16 10,398,824 (GRCm39) missense probably damaging 1.00
IGL02082:Clec16a APN 16 10,432,432 (GRCm39) missense probably damaging 1.00
IGL02468:Clec16a APN 16 10,559,742 (GRCm39) missense probably benign 0.13
IGL02499:Clec16a APN 16 10,512,540 (GRCm39) missense probably benign 0.25
IGL02671:Clec16a APN 16 10,445,245 (GRCm39) missense probably benign 0.19
G5030:Clec16a UTSW 16 10,389,425 (GRCm39) missense probably damaging 1.00
IGL03055:Clec16a UTSW 16 10,559,645 (GRCm39) missense probably damaging 0.99
P0014:Clec16a UTSW 16 10,378,020 (GRCm39) splice site probably benign
R0183:Clec16a UTSW 16 10,377,886 (GRCm39) missense probably damaging 1.00
R0268:Clec16a UTSW 16 10,462,692 (GRCm39) nonsense probably null
R0512:Clec16a UTSW 16 10,432,444 (GRCm39) missense probably damaging 1.00
R0556:Clec16a UTSW 16 10,456,649 (GRCm39) critical splice acceptor site probably null
R0944:Clec16a UTSW 16 10,506,510 (GRCm39) splice site probably benign
R1456:Clec16a UTSW 16 10,509,419 (GRCm39) missense probably damaging 1.00
R1497:Clec16a UTSW 16 10,453,123 (GRCm39) missense probably damaging 1.00
R1580:Clec16a UTSW 16 10,413,762 (GRCm39) missense probably damaging 1.00
R1933:Clec16a UTSW 16 10,506,403 (GRCm39) missense probably damaging 0.99
R2075:Clec16a UTSW 16 10,559,480 (GRCm39) missense probably benign 0.09
R2269:Clec16a UTSW 16 10,462,650 (GRCm39) missense probably damaging 1.00
R2504:Clec16a UTSW 16 10,377,551 (GRCm39) intron probably benign
R3011:Clec16a UTSW 16 10,428,975 (GRCm39) missense probably benign 0.01
R4331:Clec16a UTSW 16 10,389,533 (GRCm39) missense probably benign
R4616:Clec16a UTSW 16 10,462,747 (GRCm39) critical splice donor site probably null
R4775:Clec16a UTSW 16 10,456,778 (GRCm39) missense probably damaging 1.00
R4969:Clec16a UTSW 16 10,386,375 (GRCm39) missense probably damaging 1.00
R5053:Clec16a UTSW 16 10,394,461 (GRCm39) missense probably damaging 1.00
R5170:Clec16a UTSW 16 10,559,655 (GRCm39) missense probably benign
R5329:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5331:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5332:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5417:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5419:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5420:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5457:Clec16a UTSW 16 10,363,396 (GRCm39) splice site probably null
R5623:Clec16a UTSW 16 10,428,985 (GRCm39) missense probably benign 0.07
R6057:Clec16a UTSW 16 10,447,951 (GRCm39) missense probably damaging 1.00
R6184:Clec16a UTSW 16 10,390,792 (GRCm39) splice site probably null
R6235:Clec16a UTSW 16 10,512,499 (GRCm39) missense probably damaging 1.00
R6292:Clec16a UTSW 16 10,378,015 (GRCm39) critical splice donor site probably null
R6318:Clec16a UTSW 16 10,448,652 (GRCm39) missense probably damaging 1.00
R6894:Clec16a UTSW 16 10,462,718 (GRCm39) missense probably damaging 1.00
R7340:Clec16a UTSW 16 10,398,827 (GRCm39) missense probably null 0.21
R7432:Clec16a UTSW 16 10,506,419 (GRCm39) missense possibly damaging 0.62
R7453:Clec16a UTSW 16 10,462,686 (GRCm39) missense probably damaging 1.00
R7536:Clec16a UTSW 16 10,456,708 (GRCm39) missense possibly damaging 0.90
R8207:Clec16a UTSW 16 10,512,574 (GRCm39) missense probably damaging 1.00
R8207:Clec16a UTSW 16 10,445,312 (GRCm39) missense probably benign 0.00
R8423:Clec16a UTSW 16 10,394,527 (GRCm39) missense probably benign 0.04
R8447:Clec16a UTSW 16 10,559,487 (GRCm39) missense probably benign 0.09
R8700:Clec16a UTSW 16 10,506,422 (GRCm39) missense probably damaging 1.00
R8855:Clec16a UTSW 16 10,462,731 (GRCm39) missense probably damaging 1.00
R9143:Clec16a UTSW 16 10,428,964 (GRCm39) missense probably damaging 0.96
R9676:Clec16a UTSW 16 10,559,823 (GRCm39) missense probably benign 0.03
Predicted Primers
Posted On 2018-03-15