Incidental Mutation 'R9088:Col16a1'
ID 690749
Institutional Source Beutler Lab
Gene Symbol Col16a1
Ensembl Gene ENSMUSG00000040690
Gene Name collagen, type XVI, alpha 1
Synonyms 2700007F12Rik, A530052M23Rik, [a]1 (XVI) collagen
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R9088 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 129941638-129993070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129971016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 938 (S938T)
Ref Sequence ENSEMBL: ENSMUSP00000035802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044565] [ENSMUST00000143432] [ENSMUST00000143577]
AlphaFold Q8BLX7
Predicted Effect unknown
Transcript: ENSMUST00000044565
AA Change: S938T
SMART Domains Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690
AA Change: S938T

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 unknown
Transcript: ENSMUST00000143432
AA Change: S922T
SMART Domains Protein: ENSMUSP00000120384
Gene: ENSMUSG00000040690
AA Change: S922T

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 damaging
Transcript: ENSMUST00000143577
AA Change: S623T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690
AA Change: S623T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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
Ak9 A G 10: 41,282,870 (GRCm39) Y1212C Het
Asah2 T C 19: 32,030,360 (GRCm39) Q104R probably damaging Het
Bnipl T A 3: 95,158,295 (GRCm39) R9* probably null Het
Bpifa3 A C 2: 153,975,685 (GRCm39) N85T possibly damaging Het
C6 T C 15: 4,792,956 (GRCm39) Y354H probably damaging Het
Caln1 A T 5: 130,443,617 (GRCm39) probably benign Het
Capn3 T C 2: 120,321,451 (GRCm39) F378L probably benign Het
Car6 T C 4: 150,281,806 (GRCm39) H125R probably damaging Het
Ccdc110 G A 8: 46,394,882 (GRCm39) E258K probably damaging Het
Cep295 C A 9: 15,233,815 (GRCm39) R2327L probably benign Het
Col14a1 T A 15: 55,226,923 (GRCm39) D224E unknown Het
Col4a2 A G 8: 11,493,227 (GRCm39) E1340G possibly damaging Het
Col6a6 C T 9: 105,661,276 (GRCm39) V278M probably damaging Het
Crybg2 T A 4: 133,799,890 (GRCm39) L41Q probably damaging Het
Ctss A T 3: 95,436,867 (GRCm39) D50V possibly damaging Het
Ddx56 C T 11: 6,209,612 (GRCm39) A500T probably benign Het
Dmbt1 T C 7: 130,718,418 (GRCm39) V1713A unknown Het
Dnah1 T C 14: 30,987,970 (GRCm39) I3483V probably benign Het
E130308A19Rik T A 4: 59,737,594 (GRCm39) F402I probably benign Het
Eml6 A T 11: 29,768,424 (GRCm39) H754Q probably damaging Het
Ern2 A G 7: 121,772,890 (GRCm39) Y576H probably damaging Het
Fat4 T C 3: 39,061,448 (GRCm39) S4344P probably benign Het
Fbxo40 A G 16: 36,790,150 (GRCm39) I320T Het
Fbxw22 C T 9: 109,207,952 (GRCm39) D440N probably damaging Het
Fgd2 A G 17: 29,583,913 (GRCm39) E109G probably damaging Het
Gm19410 A T 8: 36,240,766 (GRCm39) D214V probably damaging Het
Hivep2 T C 10: 14,006,995 (GRCm39) Y1198H probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Lrrc37 T C 11: 103,511,762 (GRCm39) K69E unknown Het
Lrrc8e G A 8: 4,284,410 (GRCm39) V212M probably damaging Het
Map2 A T 1: 66,453,773 (GRCm39) S888C probably damaging Het
Met G T 6: 17,548,715 (GRCm39) G920* probably null Het
Mlkl G T 8: 112,049,365 (GRCm39) R253S Het
Mmachc T A 4: 116,561,829 (GRCm39) I102F probably damaging Het
Mnt G T 11: 74,733,880 (GRCm39) V504L unknown Het
Mup14 C T 4: 61,258,496 (GRCm39) G96D probably damaging Het
Myh13 G A 11: 67,242,885 (GRCm39) E933K probably damaging Het
Ncoa6 A G 2: 155,249,726 (GRCm39) S1193P probably damaging Het
Nek10 T C 14: 14,931,314 (GRCm38) I762T probably damaging Het
Nmur1 G T 1: 86,315,252 (GRCm39) F204L probably benign Het
Or1ak2 A G 2: 36,827,988 (GRCm39) N286D probably damaging Het
Or52e15 G T 7: 104,645,301 (GRCm39) P270Q probably damaging Het
Or8a1 T A 9: 37,641,806 (GRCm39) I158F probably damaging Het
Pappa2 T C 1: 158,763,927 (GRCm39) Y528C probably damaging Het
Patl1 T C 19: 11,920,289 (GRCm39) S748P possibly damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Polr1a A G 6: 71,908,767 (GRCm39) T531A probably benign Het
Slit3 C T 11: 35,012,463 (GRCm39) S41F possibly damaging Het
Snap29 A G 16: 17,246,058 (GRCm39) Q226R probably damaging Het
Spmip2 G A 3: 79,337,429 (GRCm39) G185D probably damaging Het
Tmpo A G 10: 90,989,138 (GRCm39) probably null Het
Tnfrsf21 G A 17: 43,348,607 (GRCm39) G73E probably damaging Het
Tsc1 T A 2: 28,552,617 (GRCm39) C119S possibly damaging Het
Uox A G 3: 146,330,369 (GRCm39) Y199C probably damaging Het
Vav2 T C 2: 27,187,708 (GRCm39) D231G possibly damaging Het
Vmn2r80 A T 10: 79,005,378 (GRCm39) K338N probably benign Het
Xylt2 G A 11: 94,561,229 (GRCm39) T178I probably benign Het
Zfp931 G T 2: 177,709,594 (GRCm39) T264K probably damaging Het
Zgrf1 A G 3: 127,377,326 (GRCm39) D857G probably benign 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
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
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'- CCTGGACACAATGGTTTGC -3'
(R):5'- TAGAGGGTGGTTCCAAAGCC -3'

Sequencing Primer
(F):5'- TGGTTTGCCAGGACAGC -3'
(R):5'- GTGGTTCCAAAGCCAGAGG -3'
Posted On 2021-12-30