Incidental Mutation 'R1981:Col16a1'
ID 222276
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 039993-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R1981 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129941638-129993070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 129959236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 346 (P346A)
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: P661A
SMART Domains Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690
AA Change: P661A

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 unknown
Transcript: ENSMUST00000143432
AA Change: P661A
SMART Domains Protein: ENSMUSP00000120384
Gene: ENSMUSG00000040690
AA Change: P661A

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 unknown
Transcript: ENSMUST00000143577
AA Change: P346A
SMART Domains Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690
AA Change: P346A

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
Meta Mutation Damage Score 0.1381 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks1 T C 17: 28,204,095 (GRCm39) V181A probably damaging Het
Aqp4 T C 18: 15,526,608 (GRCm39) D291G probably damaging Het
Atad1 G T 19: 32,673,210 (GRCm39) D224E probably benign Het
Atp1a3 T G 7: 24,700,400 (GRCm39) E33A probably benign Het
Baz2b A G 2: 59,754,024 (GRCm39) F1100L possibly damaging Het
Car7 C T 8: 105,275,009 (GRCm39) probably benign Het
Casp8 C A 1: 58,868,121 (GRCm39) probably null Het
Cdh23 A T 10: 60,214,530 (GRCm39) L1495H probably damaging Het
Ceacam9 T G 7: 16,459,232 (GRCm39) L177R probably benign Het
Cyp2c29 A G 19: 39,296,216 (GRCm39) probably null Het
Cyp3a13 T C 5: 137,910,118 (GRCm39) S139G probably damaging Het
Dapk2 A G 9: 66,176,180 (GRCm39) H327R probably benign Het
Ddx19b T C 8: 111,735,975 (GRCm39) T357A possibly damaging Het
Dnah2 A G 11: 69,365,151 (GRCm39) Y1944H probably damaging Het
Dnai2 T A 11: 114,623,755 (GRCm39) V6E probably damaging Het
Eipr1 T C 12: 28,913,024 (GRCm39) Y242H probably damaging Het
Fam149a T G 8: 45,834,778 (GRCm39) D7A probably damaging Het
Fam217a T A 13: 35,100,737 (GRCm39) D140V probably benign Het
Fat4 G A 3: 39,045,813 (GRCm39) C3944Y probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Gcsam A T 16: 45,440,337 (GRCm39) T127S probably damaging Het
Git2 C T 5: 114,887,620 (GRCm39) probably benign Het
Gm1527 T C 3: 28,969,984 (GRCm39) probably null Het
Gtf3c1 A G 7: 125,243,444 (GRCm39) L1720P possibly damaging Het
H2-T9 T A 17: 36,439,614 (GRCm39) D122V probably damaging Het
Hat1 A G 2: 71,220,321 (GRCm39) T28A probably benign Het
Igf2r G A 17: 12,952,790 (GRCm39) Q219* probably null Het
Impdh1 T A 6: 29,206,450 (GRCm39) D129V possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Ltbp3 A G 19: 5,808,107 (GRCm39) Q1250R probably benign Het
Mansc4 T A 6: 146,977,173 (GRCm39) I148F probably benign Het
Mast2 T C 4: 116,172,037 (GRCm39) Y569C probably damaging Het
Mcoln3 A T 3: 145,846,345 (GRCm39) K552* probably null Het
Mctp2 T C 7: 71,814,446 (GRCm39) Q601R probably benign Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Myo19 A T 11: 84,782,996 (GRCm39) Q170L possibly damaging Het
Myo1h T C 5: 114,491,898 (GRCm39) F676S probably damaging Het
Myo9a A G 9: 59,801,429 (GRCm39) T1876A probably benign Het
Nav3 G T 10: 109,554,951 (GRCm39) probably benign Het
Ndor1 T C 2: 25,145,236 (GRCm39) Y43C probably damaging Het
Nlrp1a A G 11: 70,989,764 (GRCm39) V1102A probably damaging Het
Nmnat3 T C 9: 98,292,352 (GRCm39) I199T possibly damaging Het
Nsun7 T C 5: 66,418,557 (GRCm39) S96P probably damaging Het
Ntng1 A G 3: 109,842,326 (GRCm39) V149A possibly damaging Het
Oas3 T C 5: 120,899,900 (GRCm39) probably benign Het
Or10v9 T G 19: 11,832,371 (GRCm39) Q315H possibly damaging Het
Or4k47 T A 2: 111,451,586 (GRCm39) I278F probably benign Het
Or5bw2 A G 7: 6,573,557 (GRCm39) D189G probably benign Het
Or6z7 T C 7: 6,483,931 (GRCm39) M75V probably benign Het
Or8b3 T C 9: 38,315,031 (GRCm39) L287P probably damaging Het
Or8k53 A T 2: 86,177,486 (GRCm39) I208N possibly damaging Het
Pax2 G A 19: 44,806,904 (GRCm39) D301N probably damaging Het
Pcsk4 T A 10: 80,161,613 (GRCm39) E176V probably damaging Het
Pkhd1 G A 1: 20,187,284 (GRCm39) P3675S probably benign Het
Plekho2 A T 9: 65,465,974 (GRCm39) L138Q probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr11 T A 11: 86,994,116 (GRCm39) D100V probably damaging Het
Qars1 A G 9: 108,392,227 (GRCm39) N136D probably damaging Het
Rbm15b A G 9: 106,758,822 (GRCm39) probably benign Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rsrc1 A G 3: 67,257,338 (GRCm39) D250G probably benign Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Scn2a C A 2: 65,520,514 (GRCm39) N503K probably damaging Het
Sh2d6 G A 6: 72,494,527 (GRCm39) probably benign Het
Smg8 T C 11: 86,976,157 (GRCm39) T475A probably benign Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Tbx20 T A 9: 24,682,209 (GRCm39) K48N possibly damaging Het
Tead1 C A 7: 112,490,952 (GRCm39) D231E probably benign Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tjp1 A T 7: 64,962,603 (GRCm39) F1111L probably damaging Het
Tlr11 T A 14: 50,599,445 (GRCm39) I477K possibly damaging Het
Ttc13 A G 8: 125,440,926 (GRCm39) probably null Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Usp15 T A 10: 122,960,946 (GRCm39) probably benign Het
Usp18 A G 6: 121,229,476 (GRCm39) K32E probably benign Het
Vmn1r12 A T 6: 57,136,646 (GRCm39) M248L probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp930 T A 8: 69,680,824 (GRCm39) L172H probably damaging Het
Zfp976 G A 7: 42,263,046 (GRCm39) H264Y 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
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 PCR Primer
(F):5'- CCTCACTTGGTAGATGTGCC -3'
(R):5'- TGTCCCAGGATGAAGGACAG -3'

Sequencing Primer
(F):5'- CACATTGGAACTAGCTACGCTCTG -3'
(R):5'- GATGCACACAGGCTGCACTAG -3'
Posted On 2014-08-25