Incidental Mutation 'R2504:Clec16a'
ID 476494
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 040412-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R2504 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 10363203-10562742 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 10377551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038145] [ENSMUST00000066345] [ENSMUST00000115824] [ENSMUST00000115827] [ENSMUST00000115828] [ENSMUST00000150894] [ENSMUST00000155633]
AlphaFold Q80U30
Predicted Effect probably benign
Transcript: ENSMUST00000038145
SMART Domains Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663

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: 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 noncoding transcript
Transcript: ENSMUST00000130148
Predicted Effect unknown
Transcript: ENSMUST00000150894
AA Change: F51L
SMART Domains Protein: ENSMUSP00000114577
Gene: ENSMUSG00000068663
AA Change: F51L

DomainStartEndE-ValueType
low complexity region 45 58 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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,909,681 (GRCm39) D28G probably benign Het
Abcg1 T A 17: 31,311,369 (GRCm39) S125T probably damaging Het
Actbl2 T C 13: 111,392,717 (GRCm39) S351P possibly damaging Het
Ankrd34b A G 13: 92,575,569 (GRCm39) probably null Het
BC051665 C T 13: 60,930,468 (GRCm39) V295I probably benign Het
C1qtnf2 A G 11: 43,381,983 (GRCm39) N265S probably damaging Het
Ccdc14 C T 16: 34,542,220 (GRCm39) R573* probably null Het
Cd55b A T 1: 130,337,612 (GRCm39) Y247N probably damaging Het
Celsr2 A T 3: 108,320,907 (GRCm39) V635E probably benign Het
Clec4b1 A G 6: 123,042,904 (GRCm39) Y41C probably damaging Het
Cntn5 A T 9: 10,172,126 (GRCm39) D19E probably benign Het
Cop1 A G 1: 159,060,375 (GRCm39) N53S probably damaging Het
Cplane1 G A 15: 8,248,700 (GRCm39) E1750K probably damaging Het
Csad A T 15: 102,097,102 (GRCm39) M1K probably null Het
Cyb5rl A G 4: 106,938,142 (GRCm39) I200V probably benign Het
Cyp26a1 A G 19: 37,686,790 (GRCm39) T81A probably damaging Het
Cyp2d12 A T 15: 82,443,237 (GRCm39) H433L probably benign Het
D7Ertd443e T A 7: 133,951,208 (GRCm39) probably null Het
Dennd1b A G 1: 139,097,908 (GRCm39) probably benign Het
Dmap1 G T 4: 117,532,495 (GRCm39) T357K probably damaging Het
Dzip1 G T 14: 119,118,456 (GRCm39) T759K probably benign Het
Elmo2 A G 2: 165,140,607 (GRCm39) V300A probably damaging Het
Eml5 T C 12: 98,810,364 (GRCm39) D864G possibly damaging Het
Ep400 A G 5: 110,816,511 (GRCm39) V2670A probably damaging Het
Epha3 T A 16: 63,423,988 (GRCm39) I534F probably damaging Het
Epha4 A C 1: 77,359,628 (GRCm39) Y742D probably damaging Het
Ergic2 A G 6: 148,106,272 (GRCm39) probably null Het
Ero1a A T 14: 45,536,545 (GRCm39) probably null Het
Fam229a A G 4: 129,385,279 (GRCm39) D70G probably damaging Het
Fbn2 C T 18: 58,226,431 (GRCm39) R781Q probably damaging Het
Fbxo16 A T 14: 65,508,163 (GRCm39) probably benign Het
Fbxo39 T A 11: 72,208,111 (GRCm39) S154R probably benign Het
Fer T A 17: 64,298,575 (GRCm39) probably null Het
Filip1l A T 16: 57,391,410 (GRCm39) D428V probably damaging Het
Filip1l A G 16: 57,391,025 (GRCm39) I538V possibly damaging Het
Fsip2 T C 2: 82,809,954 (GRCm39) I2091T possibly damaging Het
Glyat A C 19: 12,628,762 (GRCm39) T186P possibly damaging Het
Gm10604 A G 4: 11,980,083 (GRCm39) S74P unknown Het
Gm4787 T G 12: 81,425,911 (GRCm39) K82N possibly damaging Het
Hectd4 T C 5: 121,358,683 (GRCm39) I50T unknown Het
Hectd4 T C 5: 121,402,030 (GRCm39) S373P possibly damaging Het
Hmcn1 A T 1: 150,562,618 (GRCm39) C2313* probably null Het
Hrob T C 11: 102,146,122 (GRCm39) Y133H possibly damaging Het
Igfn1 A T 1: 135,897,054 (GRCm39) S1171T probably benign Het
Ints8 T C 4: 11,241,642 (GRCm39) D267G probably benign Het
Itln1 A G 1: 171,356,727 (GRCm39) C251R probably damaging Het
Jcad C T 18: 4,674,026 (GRCm39) T596M probably damaging Het
Kcnj16 C T 11: 110,916,409 (GRCm39) T357M probably benign Het
Kif13a G A 13: 46,967,676 (GRCm39) T346M probably damaging Het
Klhl24 G A 16: 19,938,917 (GRCm39) A491T probably benign Het
Kntc1 C T 5: 123,916,410 (GRCm39) Q748* probably null Het
Krt25 T A 11: 99,208,122 (GRCm39) K369* probably null Het
Krt75 C T 15: 101,476,466 (GRCm39) R433Q probably benign Het
Krt76 A G 15: 101,793,293 (GRCm39) F582L unknown Het
Lysmd1 G A 3: 95,045,708 (GRCm39) V182I probably benign Het
Mab21l2 T A 3: 86,454,862 (GRCm39) E46V probably damaging Het
Magi2 A T 5: 20,563,934 (GRCm39) K355N probably damaging Het
Marchf10 T C 11: 105,276,398 (GRCm39) D630G probably damaging Het
Mast4 A T 13: 102,875,147 (GRCm39) I1215N probably damaging Het
Nckap1 G A 2: 80,360,562 (GRCm39) T523I probably benign Het
Nexmif T A X: 103,127,999 (GRCm39) D1306V probably damaging Het
Nfkb1 A C 3: 135,295,090 (GRCm39) I918R possibly damaging Het
Nt5el A G 13: 105,246,250 (GRCm39) I270M probably benign Het
Nup50 A T 15: 84,817,859 (GRCm39) T93S probably benign Het
Nwd2 T C 5: 63,961,717 (GRCm39) Y434H probably benign Het
Or13a28 T C 7: 140,218,397 (GRCm39) V261A probably benign Het
Osbpl1a C A 18: 13,038,088 (GRCm39) V288L probably benign Het
Pan3 A G 5: 147,463,846 (GRCm39) E562G possibly damaging Het
Pappa T A 4: 65,099,126 (GRCm39) Y548* probably null Het
Phf3 A T 1: 30,849,870 (GRCm39) L1181Q probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pkhd1l1 T C 15: 44,348,824 (GRCm39) I240T probably damaging Het
Pole G A 5: 110,438,368 (GRCm39) probably null Het
Polq T A 16: 36,832,304 (GRCm39) S15T unknown Het
Prrt2 T C 7: 126,619,396 (GRCm39) E23G possibly damaging Het
Prss37 A T 6: 40,494,760 (GRCm39) probably null Het
Prune2 T C 19: 16,977,400 (GRCm39) L45P probably damaging Het
Psd A T 19: 46,313,352 (GRCm39) M6K possibly damaging Het
Psmd1 A G 1: 86,017,719 (GRCm39) E510G possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Pxdn T A 12: 30,053,405 (GRCm39) I1194N probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rgmb C A 17: 16,027,909 (GRCm39) R270L probably benign Het
Rpgrip1l A G 8: 92,007,344 (GRCm39) probably null Het
Rps2 G A 17: 24,939,353 (GRCm39) probably benign Het
Rsbn1l G T 5: 21,107,364 (GRCm39) A550E probably damaging Het
S1pr4 C T 10: 81,335,138 (GRCm39) R112H probably benign Het
Scfd2 T C 5: 74,691,838 (GRCm39) N148S probably damaging Het
Scin C T 12: 40,131,705 (GRCm39) M276I probably benign Het
Sec24d T C 3: 123,147,255 (GRCm39) I708T possibly damaging Het
Skint11 T A 4: 114,086,009 (GRCm39) F41I possibly damaging Het
Slc15a4 A T 5: 127,694,303 (GRCm39) F44Y possibly damaging Het
Slc6a18 A G 13: 73,823,925 (GRCm39) Y72H probably benign Het
Slc7a11 A T 3: 50,332,195 (GRCm39) probably null Het
Slc7a14 G T 3: 31,291,650 (GRCm39) N209K possibly damaging Het
Sstr2 T C 11: 113,515,257 (GRCm39) C59R probably damaging Het
Stab1 A G 14: 30,884,997 (GRCm39) probably null Het
Stag1 G T 9: 100,748,263 (GRCm39) S475I probably damaging Het
Stxbp5l A G 16: 36,936,029 (GRCm39) Y1183H probably damaging Het
Svep1 A T 4: 58,135,628 (GRCm39) probably null Het
Tm9sf2 A G 14: 122,396,096 (GRCm39) T653A probably benign Het
Tmeff1 T C 4: 48,662,059 (GRCm39) S366P possibly damaging Het
Tnnt2 G T 1: 135,779,803 (GRCm39) W300L probably damaging Het
Traj32 A G 14: 54,423,560 (GRCm39) probably benign Het
Trp53bp2 A T 1: 182,269,204 (GRCm39) M223L probably benign Het
Tsga10 G A 1: 37,854,758 (GRCm39) T246M probably damaging Het
Txn2 A T 15: 77,810,870 (GRCm39) probably benign Het
Ubr3 T A 2: 69,768,542 (GRCm39) F450I probably damaging Het
Usp47 T C 7: 111,703,677 (GRCm39) probably null Het
Vars2 C T 17: 35,975,685 (GRCm39) R244Q probably damaging Het
Xrra1 T A 7: 99,546,803 (GRCm39) F251L probably damaging Het
Zfp804a G A 2: 82,087,863 (GRCm39) R564Q probably benign Het
Zfp983 T C 17: 21,877,883 (GRCm39) C29R 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
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
R6260:Clec16a UTSW 16 10,512,712 (GRCm39) intron probably benign
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 2017-05-11