Incidental Mutation 'R0556:Clec16a'
ID 45587
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 038748-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R0556 (G1)
Quality Score 130
Status Validated
Chromosome 16
Chromosomal Location 10363203-10562742 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 10456649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038145] [ENSMUST00000066345] [ENSMUST00000066345] [ENSMUST00000115823] [ENSMUST00000115823] [ENSMUST00000115824] [ENSMUST00000115824] [ENSMUST00000115827] [ENSMUST00000115828] [ENSMUST00000155633]
AlphaFold Q80U30
Predicted Effect probably null
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 null
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 null
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 null
Transcript: ENSMUST00000115823
SMART Domains Protein: ENSMUSP00000111489
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
low complexity region 456 491 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115823
SMART Domains Protein: ENSMUSP00000111489
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
low complexity region 456 491 N/A INTRINSIC
Predicted Effect probably null
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 null
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 null
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 null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145866
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 98% (64/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T A 17: 15,164,213 (GRCm39) Y113* probably null Het
4930402F06Rik T C 2: 35,280,482 (GRCm39) probably benign Het
Acad11 A G 9: 103,992,501 (GRCm39) E481G probably damaging Het
Aldh1a1 A T 19: 20,611,842 (GRCm39) N389Y probably damaging Het
Bmpr2 C T 1: 59,854,487 (GRCm39) T112M probably damaging Het
Bms1 A G 6: 118,390,140 (GRCm39) Y227H probably damaging Het
Cab39 A G 1: 85,763,212 (GRCm39) probably benign Het
Ccn3 A T 15: 54,612,563 (GRCm39) T191S probably damaging Het
Ccno T C 13: 113,124,820 (GRCm39) probably null Het
Cct6b A G 11: 82,610,270 (GRCm39) probably benign Het
Cd101 A C 3: 100,927,970 (GRCm39) I37S probably damaging Het
Ces1a T C 8: 93,771,740 (GRCm39) H19R probably benign Het
Cntnap1 T C 11: 101,074,822 (GRCm39) F831S probably benign Het
Col24a1 A G 3: 145,020,489 (GRCm39) T287A possibly damaging Het
Colgalt2 C T 1: 152,347,564 (GRCm39) probably benign Het
Cpd A G 11: 76,693,171 (GRCm39) probably benign Het
Cyp3a16 C A 5: 145,392,790 (GRCm39) M145I probably benign Het
Ddx54 T A 5: 120,757,719 (GRCm39) probably benign Het
Dock7 A T 4: 98,833,426 (GRCm39) L1925Q probably damaging Het
Eif4g1 A T 16: 20,494,544 (GRCm39) Y127F probably damaging Het
Erap1 T A 13: 74,808,444 (GRCm39) V52E probably damaging Het
Fbxo6 G T 4: 148,230,632 (GRCm39) T210N probably damaging Het
Fcgbpl1 C T 7: 27,858,803 (GRCm39) H2308Y probably benign Het
Garre1 T C 7: 33,939,222 (GRCm39) T222A probably damaging Het
Gnat3 T G 5: 18,224,596 (GRCm39) V332G probably damaging Het
Ift22 T A 5: 136,940,145 (GRCm39) probably null Het
Igkv4-71 A G 6: 69,220,171 (GRCm39) C109R probably damaging Het
Igsf10 A G 3: 59,236,296 (GRCm39) L1295P probably benign Het
Itga4 T C 2: 79,155,983 (GRCm39) I983T probably benign Het
Lhcgr A T 17: 89,079,491 (GRCm39) V65D probably damaging Het
Mau2 G C 8: 70,495,082 (GRCm39) T85R probably damaging Het
Morc2a T C 11: 3,631,809 (GRCm39) probably null Het
Morc2b A T 17: 33,356,812 (GRCm39) M320K probably benign Het
Ms4a18 C A 19: 10,991,065 (GRCm39) V10F probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Mtor A G 4: 148,553,837 (GRCm39) E812G possibly damaging Het
Myo1h A G 5: 114,457,852 (GRCm39) Y121C probably damaging Het
Or11g27 T C 14: 50,771,381 (GRCm39) S171P probably benign Het
Or4a66 A C 2: 88,531,115 (GRCm39) V186G possibly damaging Het
Or8b53 A T 9: 38,667,041 (GRCm39) D19V possibly damaging Het
Plcd3 G A 11: 102,968,632 (GRCm39) T353M probably damaging Het
Pnpla7 T A 2: 24,942,313 (GRCm39) probably null Het
Ppp1r12b T A 1: 134,705,060 (GRCm39) Y876F probably damaging Het
Prelid2 T A 18: 42,084,245 (GRCm39) probably benign Het
Prickle1 A G 15: 93,398,662 (GRCm39) L722P probably benign Het
Prr12 A G 7: 44,680,093 (GRCm39) L1887P unknown Het
Ptk2b A G 14: 66,409,593 (GRCm39) L481P probably damaging Het
Rgl3 T A 9: 21,887,140 (GRCm39) K531* probably null Het
Sacs A G 14: 61,421,407 (GRCm39) I115V probably damaging Het
Septin3 G T 15: 82,167,966 (GRCm39) probably benign Het
Simc1 T C 13: 54,673,160 (GRCm39) S503P probably benign Het
Stard9 T C 2: 120,529,404 (GRCm39) V1887A probably benign Het
Synj2 T A 17: 6,088,230 (GRCm39) L1427* probably null Het
Taar2 A G 10: 23,816,793 (GRCm39) D111G probably damaging Het
Tlr5 A G 1: 182,801,716 (GRCm39) N340S probably damaging Het
Tmco2 A G 4: 120,966,314 (GRCm39) L14P probably damaging Het
Tnik A T 3: 28,679,367 (GRCm39) D746V possibly damaging Het
Trip11 C A 12: 101,850,777 (GRCm39) E811* probably null Het
Ttll9 T C 2: 152,815,526 (GRCm39) probably null Het
Uchl1 A G 5: 66,839,824 (GRCm39) E122G probably benign Het
Vwa3b C A 1: 37,203,566 (GRCm39) probably benign Het
Zan T C 5: 137,452,482 (GRCm39) N1533S unknown Het
Zfp687 G T 3: 94,917,719 (GRCm39) D684E 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
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
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 PCR Primer
(F):5'- GCTGTGAAACCAGTGCCAAGAAC -3'
(R):5'- CGTGAGGCTATTCTTTCCAGGTGAC -3'

Sequencing Primer
(F):5'- GCCTCTGGAAAACAGTGTTAAAC -3'
(R):5'- TCCAGGTGACTAGACACCTATTG -3'
Posted On 2013-06-11