Incidental Mutation 'R7086:Col16a1'
ID 568473
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 045180-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R7086 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 129941638-129993070 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 129946773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044565] [ENSMUST00000123617] [ENSMUST00000132251] [ENSMUST00000142293] [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 probably benign
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 benign
Transcript: ENSMUST00000132251
Predicted Effect probably benign
Transcript: ENSMUST00000142293
SMART Domains Protein: ENSMUSP00000119219
Gene: ENSMUSG00000040690

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
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 benign
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (60/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,068,635 (GRCm39) H28R probably damaging Het
Adgre4 T C 17: 56,127,649 (GRCm39) I563T probably benign Het
Ankub1 A T 3: 57,597,746 (GRCm39) C75S probably damaging Het
Antxrl G A 14: 33,787,873 (GRCm39) V299I probably benign Het
Arfgef2 T A 2: 166,718,536 (GRCm39) C1442S probably damaging Het
Atp13a3 T C 16: 30,169,881 (GRCm39) D399G possibly damaging Het
Cacna2d1 T A 5: 16,554,414 (GRCm39) Y666N probably damaging Het
Cenpo C T 12: 4,265,307 (GRCm39) E238K probably benign Het
Cfap91 A T 16: 38,127,219 (GRCm39) F512L possibly damaging Het
Chrng C A 1: 87,138,735 (GRCm39) R455S probably benign Het
Cimap1a A G 7: 140,429,402 (GRCm39) H151R probably benign Het
Cluh T A 11: 74,558,166 (GRCm39) H1155Q possibly damaging Het
Cpne5 G A 17: 29,378,051 (GRCm39) P576L unknown Het
Crocc C A 4: 140,774,368 (GRCm39) V144L possibly damaging Het
Cubn A G 2: 13,324,669 (GRCm39) V2781A probably damaging Het
Cyp8b1 A G 9: 121,744,355 (GRCm39) F326L probably benign Het
Dclk1 G A 3: 55,395,333 (GRCm39) probably null Het
Dennd2b A G 7: 109,124,781 (GRCm39) I1083T probably damaging Het
Dnah7c A G 1: 46,789,285 (GRCm39) R3303G probably benign Het
Dnhd1 G T 7: 105,357,739 (GRCm39) R3191S probably benign Het
Fgfbp3 T G 19: 36,896,103 (GRCm39) S172R possibly damaging Het
Gpr158 G A 2: 21,831,386 (GRCm39) V829I probably benign Het
Gtse1 A G 15: 85,759,750 (GRCm39) D647G probably damaging Het
H2-Q7 T A 17: 35,658,461 (GRCm39) V33E probably damaging Het
Hydin A G 8: 111,326,877 (GRCm39) T4739A possibly damaging Het
Kcnip1 G T 11: 33,584,629 (GRCm39) P175T probably damaging Het
Klhl10 T C 11: 100,347,768 (GRCm39) V608A probably benign Het
Klhl2 A G 8: 65,275,664 (GRCm39) Y80H probably damaging Het
Lnx2 A T 5: 146,956,988 (GRCm39) probably null Het
Lst1 G A 17: 35,404,262 (GRCm39) H59Y probably damaging Het
Mphosph8 G C 14: 56,905,980 (GRCm39) V58L possibly damaging Het
Mpnd C A 17: 56,316,457 (GRCm39) S45R possibly damaging Het
Myh8 A G 11: 67,183,453 (GRCm39) probably null Het
Or12j4 A G 7: 140,046,341 (GRCm39) T76A possibly damaging Het
Or4c52 A G 2: 89,845,594 (GRCm39) I107V probably benign Het
Phox2a A G 7: 101,467,718 (GRCm39) Y5C probably damaging Het
Pkdrej A G 15: 85,704,317 (GRCm39) S540P probably damaging Het
Plcb4 A G 2: 135,849,767 (GRCm39) M1133V probably benign Het
Plxnc1 T C 10: 94,667,297 (GRCm39) M1126V probably benign Het
Ppm1l A G 3: 69,225,186 (GRCm39) Y96C probably damaging Het
Prpsap1 T C 11: 116,368,109 (GRCm39) T234A probably benign Het
R3hcc1l T C 19: 42,570,409 (GRCm39) V668A probably damaging Het
Rapgef2 A G 3: 78,993,353 (GRCm39) S712P probably benign Het
Rcc2 T C 4: 140,435,280 (GRCm39) C100R probably benign Het
Recql4 C A 15: 76,589,753 (GRCm39) G764V unknown Het
Rlbp1 A G 7: 79,029,813 (GRCm39) I140T possibly damaging Het
Samsn1 T C 16: 75,667,794 (GRCm39) T261A probably benign Het
Sgtb T C 13: 104,254,924 (GRCm39) S65P possibly damaging Het
Spag9 T C 11: 93,988,690 (GRCm39) V920A probably benign Het
Spata31 T A 13: 65,070,043 (GRCm39) S730R probably benign Het
Spta1 C T 1: 174,027,050 (GRCm39) A841V probably damaging Het
Tnfaip1 T C 11: 78,416,265 (GRCm39) S273G probably benign Het
Vezf1 T C 11: 87,969,364 (GRCm39) V371A probably benign Het
Vmn1r67 G A 7: 10,181,044 (GRCm39) V103I possibly damaging Het
Vmn2r87 G T 10: 130,333,178 (GRCm39) T24K probably benign Het
Wdr43 G A 17: 71,923,434 (GRCm39) G60D probably benign Het
Xkr4 G A 1: 3,287,185 (GRCm39) T335I probably damaging Het
Zdhhc23 A T 16: 43,791,873 (GRCm39) I300N probably damaging Het
Zfp729b T C 13: 67,741,056 (GRCm39) K403R 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
R0299:Col16a1 UTSW 4 129,952,111 (GRCm39) frame shift probably null
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
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 PCR Primer
(F):5'- AGGCTCGTCAGTTCTGAGTG -3'
(R):5'- CAGAGCTCTAGAGGCATAGCTTG -3'

Sequencing Primer
(F):5'- GTCAGTTCTGAGTGCCCTC -3'
(R):5'- TCAAGCTCATCTCACAGGAGGG -3'
Posted On 2019-07-31