Incidental Mutation 'R5089:Col16a1'
ID 387628
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 042678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5089 (G1)
Quality Score 212
Status Validated
Chromosome 4
Chromosomal Location 129941638-129993070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129972988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 643 (T643M)
Ref Sequence ENSEMBL: ENSMUSP00000120339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044565] [ENSMUST00000143432] [ENSMUST00000143577]
AlphaFold Q8BLX7
Predicted Effect unknown
Transcript: ENSMUST00000044565
AA Change: T958M
SMART Domains Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690
AA Change: T958M

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 noncoding transcript
Transcript: ENSMUST00000129937
Predicted Effect unknown
Transcript: ENSMUST00000143432
AA Change: T942M
SMART Domains Protein: ENSMUSP00000120384
Gene: ENSMUSG00000040690
AA Change: T942M

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
AA Change: T643M

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690
AA Change: T643M

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: ENSMUST00000146606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151541
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 98% (65/66)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T C 8: 117,698,672 (GRCm39) N145S possibly damaging Het
Acp2 T C 2: 91,042,267 (GRCm39) probably benign Het
Adgrf2 G A 17: 43,020,988 (GRCm39) A612V probably benign Het
Bltp1 T A 3: 37,041,651 (GRCm39) D2676E probably benign Het
Cct3 T G 3: 88,208,150 (GRCm39) M46R probably damaging Het
Cdc123 T C 2: 5,809,811 (GRCm39) D200G probably benign Het
Cdh9 T A 15: 16,778,362 (GRCm39) F59Y probably damaging Het
Cluh A G 11: 74,551,198 (GRCm39) E349G probably damaging Het
Col5a1 G A 2: 27,908,614 (GRCm39) W67* probably null Het
Crbn T C 6: 106,758,679 (GRCm39) H381R possibly damaging Het
Crim1 A G 17: 78,681,519 (GRCm39) D991G probably damaging Het
Dhx16 A T 17: 36,194,981 (GRCm39) M503L probably damaging Het
Dthd1 A G 5: 63,007,248 (GRCm39) T650A probably benign Het
Etfa T A 9: 55,396,150 (GRCm39) K139* probably null Het
Flnc T C 6: 29,447,812 (GRCm39) I1205T probably damaging Het
Fzd6 T A 15: 38,870,875 (GRCm39) C32S probably damaging Het
Gm1110 T A 9: 26,793,683 (GRCm39) D515V probably damaging Het
Gm7676 T C 8: 13,946,401 (GRCm39) noncoding transcript Het
Gpr157 T C 4: 150,186,750 (GRCm39) S293P possibly damaging Het
Hc T C 2: 34,914,902 (GRCm39) D810G probably benign Het
Helz2 T C 2: 180,876,942 (GRCm39) H1184R probably benign Het
Hoxc5 A T 15: 102,922,487 (GRCm39) probably benign Het
Iah1 C T 12: 21,373,309 (GRCm39) S196L possibly damaging Het
Il5 C T 11: 53,612,655 (GRCm39) T55I possibly damaging Het
Kras T C 6: 145,170,869 (GRCm39) K169E probably benign Het
Larp1 C A 11: 57,938,693 (GRCm39) T492K possibly damaging Het
Lgr5 T C 10: 115,314,328 (GRCm39) D203G probably damaging Het
Lpcat2 G A 8: 93,606,071 (GRCm39) V241M probably damaging Het
Mpeg1 G A 19: 12,440,361 (GRCm39) M606I probably benign Het
Ms4a1 G A 19: 11,236,176 (GRCm39) P4S probably benign Het
Nat10 A T 2: 103,587,488 (GRCm39) probably benign Het
Ncaph2 T A 15: 89,240,148 (GRCm39) probably null Het
Nfat5 T A 8: 108,078,070 (GRCm39) V403D probably damaging Het
Or2y10 T A 11: 49,455,240 (GRCm39) M164K possibly damaging Het
Or4c109 A G 2: 88,818,516 (GRCm39) F10S probably damaging Het
Pax7 T C 4: 139,557,576 (GRCm39) H65R probably damaging Het
Phf20 C A 2: 156,144,782 (GRCm39) H797N probably benign Het
Pkhd1l1 T A 15: 44,455,283 (GRCm39) S4015T probably benign Het
Prdm5 C T 6: 65,833,074 (GRCm39) H148Y probably benign Het
Prpf8 A G 11: 75,400,054 (GRCm39) probably null Het
Rangap1 A C 15: 81,594,664 (GRCm39) D388E probably benign Het
Sardh A G 2: 27,129,625 (GRCm39) probably null Het
Serpinb6b G A 13: 33,162,133 (GRCm39) E192K probably benign Het
Shfl A T 9: 20,780,212 (GRCm39) M1L probably benign Het
Skor1 A G 9: 63,053,205 (GRCm39) S216P probably damaging Het
Slc51a A G 16: 32,296,364 (GRCm39) probably null Het
Smarcb1 T C 10: 75,751,013 (GRCm39) T74A probably benign Het
Spg11 A T 2: 121,945,198 (GRCm39) Y107* probably null Het
Spmip5 A T 19: 58,774,678 (GRCm39) L176H probably damaging Het
Stk25 T A 1: 93,552,330 (GRCm39) K350M probably benign Het
Syne1 C T 10: 5,355,444 (GRCm39) W379* probably null Het
Taco1 A T 11: 105,960,437 (GRCm39) E126V probably benign Het
Tbc1d12 T A 19: 38,905,232 (GRCm39) L649* probably null Het
Trpm3 G A 19: 22,744,120 (GRCm39) G238R probably damaging Het
Yy1 C A 12: 108,759,663 (GRCm39) Q109K 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
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 PCR Primer
(F):5'- CCAATTGCTGTGATCGGGTC -3'
(R):5'- CTCAGTCTCTACCAGATGGAGATGG -3'

Sequencing Primer
(F):5'- TGTGATCGGGTCCCCTGAG -3'
(R):5'- TGGAGATGGCGGGACCTG -3'
Posted On 2016-06-06