Incidental Mutation 'R1915:Col28a1'
ID 214766
Institutional Source Beutler Lab
Gene Symbol Col28a1
Ensembl Gene ENSMUSG00000068794
Gene Name collagen, type XXVIII, alpha 1
Synonyms
MMRRC Submission 039933-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R1915 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 7997808-8192617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8176333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 8 (F8S)
Ref Sequence ENSEMBL: ENSMUSP00000150110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115537] [ENSMUST00000213284]
AlphaFold Q2UY11
Predicted Effect unknown
Transcript: ENSMUST00000115537
AA Change: F8S
SMART Domains Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: F8S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
VWA 46 225 8.08e-18 SMART
low complexity region 245 260 N/A INTRINSIC
internal_repeat_1 261 304 1.56e-15 PROSPERO
low complexity region 306 363 N/A INTRINSIC
low complexity region 375 422 N/A INTRINSIC
low complexity region 438 479 N/A INTRINSIC
internal_repeat_4 481 531 4.11e-8 PROSPERO
Pfam:Collagen 534 591 1.5e-8 PFAM
low complexity region 640 661 N/A INTRINSIC
low complexity region 667 684 N/A INTRINSIC
internal_repeat_4 690 739 4.11e-8 PROSPERO
internal_repeat_1 711 763 1.56e-15 PROSPERO
internal_repeat_5 713 769 4.35e-6 PROSPERO
low complexity region 771 789 N/A INTRINSIC
VWA 796 973 1.57e-38 SMART
KU 1086 1139 8.16e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213284
AA Change: F8S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.0850 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency 100% (85/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Adam2 C A 14: 66,275,006 (GRCm39) V576F possibly damaging Het
Afmid T C 11: 117,726,625 (GRCm39) F250L possibly damaging Het
Apc2 A T 10: 80,151,701 (GRCm39) I2252L probably benign Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Btnl7-ps T A 17: 34,760,619 (GRCm39) noncoding transcript Het
Cdkn2aip T C 8: 48,164,961 (GRCm39) T251A probably benign Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Cfap54 A G 10: 92,720,564 (GRCm39) V2630A unknown Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cldn23 T A 8: 36,293,099 (GRCm39) I130F possibly damaging Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Dcbld1 G T 10: 52,193,131 (GRCm39) C292F probably damaging Het
Dlgap5 T C 14: 47,645,230 (GRCm39) K304E probably benign Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Exoc3 A G 13: 74,321,413 (GRCm39) probably null Het
F5 C A 1: 164,010,486 (GRCm39) R406S probably damaging Het
Fahd1 A T 17: 25,068,622 (GRCm39) W152R possibly damaging Het
Farp2 T A 1: 93,456,424 (GRCm39) S36T probably benign Het
Foxs1 A G 2: 152,774,760 (GRCm39) C98R probably damaging Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gm8674 A T 13: 50,054,889 (GRCm39) noncoding transcript Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcna4 T C 2: 107,127,123 (GRCm39) V619A probably benign Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Kif1b G A 4: 149,351,673 (GRCm39) T263I probably damaging Het
Large2 G T 2: 92,196,170 (GRCm39) probably benign Het
Lcp1 T A 14: 75,436,737 (GRCm39) Y28N possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mccc2 T C 13: 100,085,038 (GRCm39) probably null Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mlst8 C T 17: 24,696,264 (GRCm39) W155* probably null Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Nalcn C T 14: 123,540,181 (GRCm39) V1140I probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nup58 T C 14: 60,475,980 (GRCm39) K279R probably benign Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or11g1 C T 14: 50,651,798 (GRCm39) P266S probably damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Or8k30 A G 2: 86,339,343 (GRCm39) D180G probably damaging Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Pram1 A T 17: 33,860,131 (GRCm39) I233F probably benign Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Ptpn23 A T 9: 110,215,575 (GRCm39) D1396E probably damaging Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Stk36 T A 1: 74,673,346 (GRCm39) S1080T probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Uri1 A T 7: 37,661,103 (GRCm39) I480K probably damaging Het
Zcchc3 A C 2: 152,255,601 (GRCm39) V366G probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly damaging Het
Zfp54 T C 17: 21,654,414 (GRCm39) Y303H probably benign Het
Zfp729b A G 13: 67,741,339 (GRCm39) F319L probably damaging Het
Zfp934 G A 13: 62,665,769 (GRCm39) H291Y probably damaging Het
Other mutations in Col28a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Col28a1 APN 6 8,014,795 (GRCm39) missense probably damaging 1.00
IGL00329:Col28a1 APN 6 8,175,425 (GRCm39) missense probably damaging 1.00
IGL00466:Col28a1 APN 6 8,022,081 (GRCm39) splice site probably benign
IGL00544:Col28a1 APN 6 8,162,228 (GRCm39) critical splice acceptor site probably null
IGL00979:Col28a1 APN 6 8,014,810 (GRCm39) missense probably damaging 1.00
IGL01475:Col28a1 APN 6 8,103,521 (GRCm39) missense probably damaging 0.98
IGL01570:Col28a1 APN 6 8,014,540 (GRCm39) missense probably damaging 0.99
IGL01688:Col28a1 APN 6 7,998,517 (GRCm39) missense probably damaging 1.00
IGL01734:Col28a1 APN 6 8,158,134 (GRCm39) missense probably damaging 0.99
IGL01911:Col28a1 APN 6 8,014,963 (GRCm39) missense probably damaging 1.00
IGL01922:Col28a1 APN 6 8,158,133 (GRCm39) missense probably damaging 0.96
IGL02567:Col28a1 APN 6 8,014,819 (GRCm39) missense possibly damaging 0.91
IGL02641:Col28a1 APN 6 8,014,794 (GRCm39) nonsense probably null
IGL02893:Col28a1 APN 6 8,103,534 (GRCm39) missense probably damaging 1.00
IGL03062:Col28a1 APN 6 8,017,029 (GRCm39) splice site probably benign
IGL03273:Col28a1 APN 6 8,103,484 (GRCm39) splice site probably benign
P0043:Col28a1 UTSW 6 8,168,152 (GRCm39) unclassified probably benign
R0034:Col28a1 UTSW 6 8,175,708 (GRCm39) missense probably benign 0.32
R0543:Col28a1 UTSW 6 8,075,326 (GRCm39) splice site probably benign
R0646:Col28a1 UTSW 6 8,175,291 (GRCm39) missense possibly damaging 0.88
R0726:Col28a1 UTSW 6 8,014,495 (GRCm39) critical splice donor site probably null
R1013:Col28a1 UTSW 6 7,999,452 (GRCm39) splice site probably benign
R1054:Col28a1 UTSW 6 8,175,534 (GRCm39) missense probably damaging 0.96
R1671:Col28a1 UTSW 6 8,083,773 (GRCm39) missense possibly damaging 0.84
R1804:Col28a1 UTSW 6 8,164,612 (GRCm39) critical splice donor site probably null
R1853:Col28a1 UTSW 6 8,014,574 (GRCm39) missense probably benign 0.03
R1906:Col28a1 UTSW 6 7,999,644 (GRCm39) missense probably benign 0.14
R1914:Col28a1 UTSW 6 8,176,333 (GRCm39) missense probably benign 0.08
R1954:Col28a1 UTSW 6 7,998,516 (GRCm39) missense probably damaging 1.00
R1997:Col28a1 UTSW 6 7,999,644 (GRCm39) missense probably benign 0.14
R2011:Col28a1 UTSW 6 8,059,360 (GRCm39) missense probably benign 0.05
R2023:Col28a1 UTSW 6 8,083,783 (GRCm39) missense possibly damaging 0.66
R2149:Col28a1 UTSW 6 8,155,383 (GRCm39) missense possibly damaging 0.83
R2285:Col28a1 UTSW 6 8,097,078 (GRCm39) missense probably damaging 0.98
R2403:Col28a1 UTSW 6 8,175,641 (GRCm39) missense possibly damaging 0.79
R3615:Col28a1 UTSW 6 8,014,942 (GRCm39) missense probably damaging 1.00
R3616:Col28a1 UTSW 6 8,014,942 (GRCm39) missense probably damaging 1.00
R3837:Col28a1 UTSW 6 8,014,601 (GRCm39) missense possibly damaging 0.81
R4042:Col28a1 UTSW 6 8,014,678 (GRCm39) missense probably damaging 0.98
R4084:Col28a1 UTSW 6 8,013,132 (GRCm39) missense possibly damaging 0.49
R4084:Col28a1 UTSW 6 8,013,131 (GRCm39) nonsense probably null
R4417:Col28a1 UTSW 6 8,175,666 (GRCm39) missense possibly damaging 0.62
R4838:Col28a1 UTSW 6 8,014,559 (GRCm39) missense probably benign 0.11
R5752:Col28a1 UTSW 6 8,015,025 (GRCm39) missense possibly damaging 0.79
R5807:Col28a1 UTSW 6 8,158,144 (GRCm39) missense probably benign 0.00
R6038:Col28a1 UTSW 6 8,013,140 (GRCm39) missense probably benign 0.03
R6038:Col28a1 UTSW 6 8,013,140 (GRCm39) missense probably benign 0.03
R6046:Col28a1 UTSW 6 8,168,102 (GRCm39) splice site probably null
R6054:Col28a1 UTSW 6 8,083,748 (GRCm39) missense possibly damaging 0.96
R6159:Col28a1 UTSW 6 8,162,247 (GRCm39) splice site probably null
R6306:Col28a1 UTSW 6 8,014,969 (GRCm39) missense probably damaging 0.96
R6379:Col28a1 UTSW 6 8,012,996 (GRCm39) missense probably benign 0.00
R6665:Col28a1 UTSW 6 8,062,277 (GRCm39) missense probably benign 0.08
R6809:Col28a1 UTSW 6 7,999,468 (GRCm39) missense probably damaging 0.99
R7023:Col28a1 UTSW 6 8,083,763 (GRCm39) missense possibly damaging 0.92
R7101:Col28a1 UTSW 6 8,014,795 (GRCm39) missense possibly damaging 0.95
R7117:Col28a1 UTSW 6 8,013,122 (GRCm39) missense possibly damaging 0.89
R7375:Col28a1 UTSW 6 7,998,499 (GRCm39) missense possibly damaging 0.46
R8236:Col28a1 UTSW 6 8,097,024 (GRCm39) critical splice donor site probably null
R8272:Col28a1 UTSW 6 8,154,175 (GRCm39) missense possibly damaging 0.92
R8559:Col28a1 UTSW 6 8,166,681 (GRCm39) missense unknown
R8712:Col28a1 UTSW 6 8,013,133 (GRCm39) missense probably benign 0.32
R8782:Col28a1 UTSW 6 8,175,227 (GRCm39) missense unknown
R8838:Col28a1 UTSW 6 8,091,839 (GRCm39) critical splice donor site probably null
R8885:Col28a1 UTSW 6 8,127,360 (GRCm39) splice site probably benign
R9132:Col28a1 UTSW 6 8,014,993 (GRCm39) missense probably damaging 1.00
R9153:Col28a1 UTSW 6 8,022,765 (GRCm39) missense probably benign 0.03
R9159:Col28a1 UTSW 6 8,014,993 (GRCm39) missense probably damaging 1.00
R9310:Col28a1 UTSW 6 8,175,414 (GRCm39) missense unknown
R9327:Col28a1 UTSW 6 8,175,653 (GRCm39) missense unknown
R9423:Col28a1 UTSW 6 7,999,601 (GRCm39) missense probably benign 0.34
Z1177:Col28a1 UTSW 6 8,175,630 (GRCm39) missense unknown
Z1177:Col28a1 UTSW 6 8,127,352 (GRCm39) missense probably damaging 1.00
Z1177:Col28a1 UTSW 6 8,062,283 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- ACAGTGGTATAAGTTTATCAAGCAGAA -3'
(R):5'- TAGAAACCTGTTTGTTTTCTTGTTCT -3'

Sequencing Primer
(F):5'- CCTGGAAGTCATTTTTCCTT -3'
(R):5'- TCTCTTTAGACCTACCAGAAGAGGG -3'
Posted On 2014-07-14