Incidental Mutation 'R0299:Col16a1'
ID 66453
Institutional Source Beutler Lab
Gene Symbol Col16a1
Ensembl Gene ENSMUSG00000040690
Gene Name collagen, type XVI, alpha 1
Synonyms 2700007F12Rik, A530052M23Rik, [a]1 (XVI) collagen
MMRRC Submission 038513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R0299 (G1)
Quality Score 149
Status Validated
Chromosome 4
Chromosomal Location 129941638-129993070 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TCCCC to TCCC at 129952111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044565] [ENSMUST00000123617] [ENSMUST00000143432] [ENSMUST00000143577]
AlphaFold Q8BLX7
Predicted Effect probably null
Transcript: ENSMUST00000044565
SMART Domains Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TSPN 50 231 1.07e-68 SMART
internal_repeat_4 330 355 2.35e-7 PROSPERO
Pfam:Collagen 372 431 1.6e-8 PFAM
low complexity region 441 507 N/A INTRINSIC
low complexity region 525 542 N/A INTRINSIC
internal_repeat_2 546 562 2.68e-9 PROSPERO
internal_repeat_1 547 580 9.92e-10 PROSPERO
Pfam:Collagen 584 646 1.5e-9 PFAM
internal_repeat_5 662 689 6.35e-7 PROSPERO
internal_repeat_3 662 731 1.96e-8 PROSPERO
internal_repeat_7 679 695 2.06e-5 PROSPERO
internal_repeat_6 682 730 7.63e-6 PROSPERO
internal_repeat_1 685 742 9.92e-10 PROSPERO
Pfam:Collagen 796 850 3.4e-9 PFAM
internal_repeat_5 859 889 6.35e-7 PROSPERO
low complexity region 891 922 N/A INTRINSIC
low complexity region 990 1000 N/A INTRINSIC
Pfam:Collagen 1001 1064 1.4e-10 PFAM
low complexity region 1090 1112 N/A INTRINSIC
internal_repeat_7 1114 1130 2.06e-5 PROSPERO
low complexity region 1132 1162 N/A INTRINSIC
low complexity region 1171 1222 N/A INTRINSIC
low complexity region 1230 1282 N/A INTRINSIC
internal_repeat_2 1283 1299 2.68e-9 PROSPERO
internal_repeat_6 1287 1335 7.63e-6 PROSPERO
Pfam:Collagen 1350 1411 1.8e-9 PFAM
Pfam:Collagen 1446 1503 5.3e-10 PFAM
low complexity region 1505 1525 N/A INTRINSIC
low complexity region 1528 1549 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106001
Predicted Effect probably null
Transcript: ENSMUST00000123617
SMART Domains Protein: ENSMUSP00000121415
Gene: ENSMUSG00000040690

DomainStartEndE-ValueType
Pfam:Collagen 60 97 1.2e-7 PFAM
low complexity region 117 127 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000143432
SMART Domains Protein: ENSMUSP00000120384
Gene: ENSMUSG00000040690

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TSPN 50 231 1.07e-68 SMART
internal_repeat_1 330 353 5.41e-8 PROSPERO
Pfam:Collagen 372 426 2.1e-9 PFAM
low complexity region 441 507 N/A INTRINSIC
low complexity region 525 542 N/A INTRINSIC
internal_repeat_1 546 569 5.41e-8 PROSPERO
internal_repeat_2 547 580 5.41e-8 PROSPERO
Pfam:Collagen 584 646 2.7e-10 PFAM
Pfam:Collagen 659 736 8.6e-8 PFAM
Pfam:Collagen 745 797 1.6e-7 PFAM
Pfam:Collagen 796 850 5.9e-10 PFAM
Pfam:Collagen 848 923 1.6e-7 PFAM
low complexity region 974 984 N/A INTRINSIC
Pfam:Collagen 987 1045 1e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000143577
SMART Domains Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690

DomainStartEndE-ValueType
internal_repeat_7 1 43 5.7e-5 PROSPERO
Pfam:Collagen 57 112 2e-9 PFAM
low complexity region 126 192 N/A INTRINSIC
low complexity region 210 227 N/A INTRINSIC
internal_repeat_2 231 247 1.5e-10 PROSPERO
internal_repeat_1 232 265 5.16e-11 PROSPERO
Pfam:Collagen 269 331 3.4e-10 PFAM
Pfam:Collagen 360 421 7e-11 PFAM
Pfam:Collagen 430 482 1.9e-7 PFAM
Pfam:Collagen 481 535 7.8e-10 PFAM
Pfam:Collagen 560 623 1.4e-7 PFAM
internal_repeat_9 640 665 9.73e-5 PROSPERO
low complexity region 675 685 N/A INTRINSIC
Pfam:Collagen 686 747 2.5e-11 PFAM
Pfam:Collagen 730 802 5.2e-9 PFAM
Pfam:Collagen 783 860 9.2e-9 PFAM
low complexity region 871 922 N/A INTRINSIC
low complexity region 930 985 N/A INTRINSIC
internal_repeat_2 986 1002 1.5e-10 PROSPERO
internal_repeat_5 990 1038 7.88e-7 PROSPERO
low complexity region 1041 1110 N/A INTRINSIC
Pfam:Collagen 1149 1205 1.8e-10 PFAM
Pfam:Collagen 1203 1260 1.1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154441
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.3%
  • 20x: 90.1%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
4933427I04Rik A T 4: 123,754,615 (GRCm39) R176S possibly damaging Het
A2ml1 T G 6: 128,530,195 (GRCm39) probably benign Het
Abca13 G A 11: 9,248,076 (GRCm39) E2608K probably benign Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adcy8 T A 15: 64,588,015 (GRCm39) D894V probably damaging Het
Ap4b1 T C 3: 103,717,262 (GRCm39) M1T probably null Het
Arg2 A G 12: 79,194,386 (GRCm39) D70G probably damaging Het
Atxn1 A G 13: 45,720,645 (GRCm39) S417P probably damaging Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Clec2h T C 6: 128,647,858 (GRCm39) V69A probably damaging Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Degs1 A T 1: 182,106,836 (GRCm39) I141N probably damaging Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Dock10 T C 1: 80,514,646 (GRCm39) R1424G probably damaging Het
Elp2 T C 18: 24,767,466 (GRCm39) I716T probably benign Het
Frk T C 10: 34,360,367 (GRCm39) probably null Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gin1 T A 1: 97,710,741 (GRCm39) S141R possibly damaging Het
Gm11596 G A 11: 99,683,770 (GRCm39) P117S unknown Het
Gm6327 T C 16: 12,579,061 (GRCm39) noncoding transcript Het
Hepacam2 A G 6: 3,476,121 (GRCm39) L268P probably damaging Het
Hps6 G A 19: 45,992,671 (GRCm39) V203M probably damaging Het
Hsd17b7 G A 1: 169,787,363 (GRCm39) probably benign Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Il1r2 T A 1: 40,162,309 (GRCm39) Y317* probably null Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mecom A G 3: 30,034,560 (GRCm39) L372P probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Muc2 C T 7: 141,306,466 (GRCm39) T296I probably damaging Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nisch A G 14: 30,893,881 (GRCm39) Y1231H probably damaging Het
Or10ak14 A T 4: 118,611,732 (GRCm39) M1K probably null Het
Or10ak9 A G 4: 118,726,613 (GRCm39) I212V probably benign Het
Pcsk6 T C 7: 65,688,791 (GRCm39) V820A probably benign Het
Pdcd10 T C 3: 75,434,958 (GRCm39) K111R probably damaging Het
Pdgfrb T A 18: 61,201,924 (GRCm39) V496E probably benign Het
Pelo A T 13: 115,225,439 (GRCm39) C40* probably null Het
Plxnc1 C T 10: 94,685,683 (GRCm39) probably null Het
Ptpru G A 4: 131,530,698 (GRCm39) Q519* probably null Het
Pzp A G 6: 128,472,293 (GRCm39) probably benign Het
Rad21 A T 15: 51,828,426 (GRCm39) D547E probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Shtn1 T C 19: 59,007,383 (GRCm39) E289G probably benign Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Slamf7 G A 1: 171,476,499 (GRCm39) probably benign Het
Sppl3 T A 5: 115,227,053 (GRCm39) probably benign Het
Suco G A 1: 161,681,379 (GRCm39) T253I probably benign Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tram2 T C 1: 21,074,468 (GRCm39) D238G probably damaging Het
Trpm3 T C 19: 22,964,237 (GRCm39) M1244T possibly damaging Het
Trub1 A G 19: 57,472,057 (GRCm39) T178A possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Vmn1r25 T A 6: 57,955,494 (GRCm39) Q265L probably damaging Het
Zfp821 G T 8: 110,450,862 (GRCm39) R285L probably damaging Het
Other mutations in Col16a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Col16a1 APN 4 129,988,345 (GRCm39) splice site probably null
IGL00885:Col16a1 APN 4 129,990,703 (GRCm39) missense probably damaging 1.00
IGL01931:Col16a1 APN 4 129,966,634 (GRCm39) missense possibly damaging 0.47
IGL02142:Col16a1 APN 4 129,945,440 (GRCm39) splice site probably null
IGL02307:Col16a1 APN 4 129,952,802 (GRCm39) missense probably damaging 1.00
IGL02731:Col16a1 APN 4 129,947,323 (GRCm39) unclassified probably benign
IGL02742:Col16a1 APN 4 129,955,172 (GRCm39) unclassified probably benign
PIT4520001:Col16a1 UTSW 4 129,945,456 (GRCm39) missense unknown
R0127:Col16a1 UTSW 4 129,946,650 (GRCm39) missense probably damaging 1.00
R0131:Col16a1 UTSW 4 129,960,889 (GRCm39) missense unknown
R0131:Col16a1 UTSW 4 129,960,889 (GRCm39) missense unknown
R0132:Col16a1 UTSW 4 129,960,889 (GRCm39) missense unknown
R0355:Col16a1 UTSW 4 129,952,206 (GRCm39) splice site probably benign
R0395:Col16a1 UTSW 4 129,966,902 (GRCm39) missense probably damaging 1.00
R0485:Col16a1 UTSW 4 129,984,290 (GRCm39) splice site probably benign
R0573:Col16a1 UTSW 4 129,962,268 (GRCm39) splice site probably benign
R1274:Col16a1 UTSW 4 129,991,594 (GRCm39) missense probably damaging 0.98
R1619:Col16a1 UTSW 4 129,992,733 (GRCm39) missense probably damaging 1.00
R1759:Col16a1 UTSW 4 129,978,062 (GRCm39) missense probably damaging 1.00
R1832:Col16a1 UTSW 4 129,970,850 (GRCm39) splice site probably null
R1861:Col16a1 UTSW 4 129,955,517 (GRCm39) unclassified probably benign
R1862:Col16a1 UTSW 4 129,986,575 (GRCm39) critical splice donor site probably null
R1981:Col16a1 UTSW 4 129,959,236 (GRCm39) missense unknown
R2265:Col16a1 UTSW 4 129,946,711 (GRCm39) missense probably benign 0.02
R2269:Col16a1 UTSW 4 129,946,711 (GRCm39) missense probably benign 0.02
R2291:Col16a1 UTSW 4 129,960,833 (GRCm39) missense unknown
R3176:Col16a1 UTSW 4 129,951,792 (GRCm39) missense probably damaging 0.99
R3276:Col16a1 UTSW 4 129,951,792 (GRCm39) missense probably damaging 0.99
R3552:Col16a1 UTSW 4 129,970,834 (GRCm39) missense probably benign 0.10
R4049:Col16a1 UTSW 4 129,962,545 (GRCm39) missense probably damaging 1.00
R4241:Col16a1 UTSW 4 129,992,843 (GRCm39) missense probably damaging 0.98
R4327:Col16a1 UTSW 4 129,988,344 (GRCm39) critical splice donor site probably null
R4591:Col16a1 UTSW 4 129,955,592 (GRCm39) splice site probably null
R4664:Col16a1 UTSW 4 129,955,883 (GRCm39) unclassified probably benign
R4803:Col16a1 UTSW 4 129,948,901 (GRCm39) unclassified probably benign
R4925:Col16a1 UTSW 4 129,947,969 (GRCm39) missense probably damaging 1.00
R4961:Col16a1 UTSW 4 129,948,272 (GRCm39) splice site probably null
R5016:Col16a1 UTSW 4 129,972,988 (GRCm39) missense probably benign 0.31
R5027:Col16a1 UTSW 4 129,972,988 (GRCm39) missense probably benign 0.31
R5085:Col16a1 UTSW 4 129,947,964 (GRCm39) missense probably damaging 1.00
R5088:Col16a1 UTSW 4 129,972,988 (GRCm39) missense probably benign 0.31
R5089:Col16a1 UTSW 4 129,972,988 (GRCm39) missense probably benign 0.31
R5408:Col16a1 UTSW 4 129,986,898 (GRCm39) utr 3 prime probably benign
R5472:Col16a1 UTSW 4 129,986,564 (GRCm39) utr 3 prime probably benign
R5564:Col16a1 UTSW 4 129,947,151 (GRCm39) missense probably damaging 1.00
R5597:Col16a1 UTSW 4 129,952,097 (GRCm39) missense probably damaging 1.00
R5703:Col16a1 UTSW 4 129,947,092 (GRCm39) missense probably damaging 0.96
R6054:Col16a1 UTSW 4 129,955,515 (GRCm39) unclassified probably benign
R6226:Col16a1 UTSW 4 129,948,882 (GRCm39) unclassified probably benign
R6362:Col16a1 UTSW 4 129,959,983 (GRCm39) missense unknown
R6448:Col16a1 UTSW 4 129,952,781 (GRCm39) missense probably damaging 1.00
R6449:Col16a1 UTSW 4 129,960,486 (GRCm39) missense unknown
R6502:Col16a1 UTSW 4 129,949,787 (GRCm39) missense probably damaging 1.00
R6949:Col16a1 UTSW 4 129,953,116 (GRCm39) missense probably damaging 1.00
R6969:Col16a1 UTSW 4 129,986,880 (GRCm39) utr 3 prime probably benign
R7086:Col16a1 UTSW 4 129,946,773 (GRCm39) splice site probably null
R7375:Col16a1 UTSW 4 129,959,294 (GRCm39) missense unknown
R7703:Col16a1 UTSW 4 129,990,295 (GRCm39) missense unknown
R7808:Col16a1 UTSW 4 129,967,057 (GRCm39) missense unknown
R7904:Col16a1 UTSW 4 129,948,001 (GRCm39) nonsense probably null
R7936:Col16a1 UTSW 4 129,990,664 (GRCm39) critical splice acceptor site probably null
R7981:Col16a1 UTSW 4 129,980,347 (GRCm39) critical splice donor site probably null
R8161:Col16a1 UTSW 4 129,954,262 (GRCm39) missense unknown
R8178:Col16a1 UTSW 4 129,947,270 (GRCm39) missense unknown
R8266:Col16a1 UTSW 4 129,959,224 (GRCm39) missense unknown
R8312:Col16a1 UTSW 4 129,948,244 (GRCm39) missense unknown
R8714:Col16a1 UTSW 4 129,947,961 (GRCm39) missense unknown
R9011:Col16a1 UTSW 4 129,946,652 (GRCm39) missense unknown
R9088:Col16a1 UTSW 4 129,971,016 (GRCm39) missense unknown
RF014:Col16a1 UTSW 4 129,986,860 (GRCm39) critical splice acceptor site probably benign
Z1176:Col16a1 UTSW 4 129,966,671 (GRCm39) missense unknown
Predicted Primers
Posted On 2013-08-19