Incidental Mutation 'R7023:Col28a1'
ID 545759
Institutional Source Beutler Lab
Gene Symbol Col28a1
Ensembl Gene ENSMUSG00000068794
Gene Name collagen, type XXVIII, alpha 1
Synonyms
MMRRC Submission 045124-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7023 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 7997808-8192617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8083763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 565 (R565G)
Ref Sequence ENSEMBL: ENSMUSP00000111199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115537]
AlphaFold Q2UY11
Predicted Effect possibly damaging
Transcript: ENSMUST00000115537
AA Change: R565G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: R565G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 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.] 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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,610,443 (GRCm39) H372R probably benign Het
4933405O20Rik T C 7: 50,250,001 (GRCm39) I345T probably damaging Het
4933427D14Rik A G 11: 72,069,229 (GRCm39) probably null Het
6430548M08Rik T C 8: 120,872,096 (GRCm39) V8A probably damaging Het
Adam2 A T 14: 66,280,505 (GRCm39) D501E probably benign Het
Agbl3 T C 6: 34,791,704 (GRCm39) V602A probably benign Het
Akap12 T C 10: 4,306,895 (GRCm39) M1235T probably benign Het
Arid5a G A 1: 36,356,631 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,469 (GRCm39) D1006E probably benign Het
AY074887 T C 9: 54,858,149 (GRCm39) probably benign Het
Btbd9 T A 17: 30,746,546 (GRCm39) R93S probably benign Het
Cabp2 A T 19: 4,132,658 (GRCm39) probably null Het
Cacna1e T C 1: 154,601,439 (GRCm39) D76G probably null Het
Cd177 A G 7: 24,459,187 (GRCm39) I74T probably benign Het
Chchd1 G A 14: 20,753,310 (GRCm39) probably benign Het
Cpvl T A 6: 53,944,797 (GRCm39) I80F probably benign Het
Csgalnact1 T C 8: 68,811,081 (GRCm39) T530A probably benign Het
Cybrd1 A G 2: 70,968,922 (GRCm39) D265G probably benign Het
Cyp2c69 A T 19: 39,865,986 (GRCm39) N202K probably benign Het
D1Pas1 A G 1: 186,700,205 (GRCm39) N45D probably damaging Het
Dclre1a A G 19: 56,528,638 (GRCm39) V839A probably damaging Het
Degs1 A T 1: 182,106,630 (GRCm39) Y210N probably damaging Het
Doc2g A G 19: 4,054,778 (GRCm39) S220G probably benign Het
Epb41l2 T A 10: 25,388,875 (GRCm39) L885Q probably damaging Het
Fabp1 A T 6: 71,180,069 (GRCm39) probably null Het
Fat2 G A 11: 55,201,328 (GRCm39) S582L probably benign Het
Fcgbpl1 T A 7: 27,839,463 (GRCm39) C425* probably null Het
Fras1 A G 5: 96,857,943 (GRCm39) N2079S probably benign Het
Gdf6 T C 4: 9,860,210 (GRCm39) Y431H probably damaging Het
Gfra1 A T 19: 58,442,764 (GRCm39) L6Q probably damaging Het
Gm45861 T G 8: 28,071,034 (GRCm39) S1305A unknown Het
Gse1 T C 8: 120,957,387 (GRCm39) probably benign Het
Kmt2e A G 5: 23,705,485 (GRCm39) H1303R possibly damaging Het
Lck T C 4: 129,442,658 (GRCm39) D499G possibly damaging Het
Lepr A T 4: 101,646,484 (GRCm39) Y805F probably damaging Het
Lin7a A T 10: 107,218,489 (GRCm39) Y11F possibly damaging Het
Lrrc43 A G 5: 123,641,826 (GRCm39) K559E probably damaging Het
Megf6 T C 4: 154,338,602 (GRCm39) L467P possibly damaging Het
Mprip G A 11: 59,628,215 (GRCm39) G221R probably damaging Het
Myo5c T C 9: 75,208,738 (GRCm39) V1683A probably damaging Het
Nbeal2 G A 9: 110,467,686 (GRCm39) R501W probably damaging Het
Ncf1 G T 5: 134,254,116 (GRCm39) A219E possibly damaging Het
Nckap1l T C 15: 103,384,493 (GRCm39) I616T probably benign Het
Nlrp2 A T 7: 5,331,228 (GRCm39) C389* probably null Het
Nrg3 T C 14: 38,098,333 (GRCm39) E507G probably damaging Het
Or4p19 A G 2: 88,242,759 (GRCm39) L81P probably damaging Het
P4ha2 A T 11: 54,022,072 (GRCm39) T532S probably benign Het
Pappa A T 4: 65,269,955 (GRCm39) H1623L probably benign Het
Paqr6 A G 3: 88,273,353 (GRCm39) Y115C probably damaging Het
Pcolce2 A T 9: 95,560,521 (GRCm39) Q190L probably benign Het
Poll A G 19: 45,547,277 (GRCm39) I65T probably benign Het
Prmt9 T C 8: 78,276,086 (GRCm39) probably benign Het
Prpf39 T C 12: 65,100,074 (GRCm39) V130A possibly damaging Het
Prpf6 A G 2: 181,262,433 (GRCm39) D144G probably damaging Het
Rgs6 T A 12: 83,138,878 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,879,847 (GRCm39) probably null Het
Ripor2 A G 13: 24,855,829 (GRCm39) T90A probably benign Het
Rnf150 T C 8: 83,590,706 (GRCm39) F23S probably damaging Het
Rpp40 G A 13: 36,082,889 (GRCm39) R200W possibly damaging Het
Rtp3 G A 9: 110,815,714 (GRCm39) S217L probably benign Het
Sacs A C 14: 61,446,264 (GRCm39) K2770T probably benign Het
Scn10a A T 9: 119,442,610 (GRCm39) I1545N probably damaging Het
Scn2b G T 9: 45,037,438 (GRCm39) V162L probably damaging Het
Sema6d A G 2: 124,506,831 (GRCm39) T880A probably damaging Het
Slc36a4 A G 9: 15,630,929 (GRCm39) D16G probably benign Het
Slc4a8 T A 15: 100,689,524 (GRCm39) I378K probably benign Het
Smco2 T A 6: 146,760,354 (GRCm39) L70* probably null Het
Sptb C T 12: 76,671,862 (GRCm39) V364I probably damaging Het
Susd4 A G 1: 182,592,613 (GRCm39) H3R probably damaging Het
Tbc1d16 T C 11: 119,049,617 (GRCm39) Q293R probably damaging Het
Tnfsf9 T A 17: 57,414,317 (GRCm39) M248K possibly damaging Het
Toporsl A G 4: 52,611,211 (GRCm39) N368S possibly damaging Het
Trip11 T C 12: 101,852,126 (GRCm39) E361G probably benign Het
Trrap T A 5: 144,728,964 (GRCm39) M626K possibly damaging Het
Ttn A T 2: 76,773,218 (GRCm39) S2395T probably damaging Het
Ubqln3 T C 7: 103,790,630 (GRCm39) R487G probably damaging Het
Vdac1 A G 11: 52,265,193 (GRCm39) Y22C probably damaging Het
Vmn1r59 C T 7: 5,457,477 (GRCm39) M94I probably benign Het
Vmn2r10 G T 5: 109,149,894 (GRCm39) D383E probably damaging Het
Vmn2r115 T C 17: 23,578,785 (GRCm39) Y753H probably damaging Het
Vmn2r97 G T 17: 19,134,663 (GRCm39) C27F probably damaging Het
Wasf1 T A 10: 40,812,471 (GRCm39) V420E unknown Het
Zfp94 A T 7: 24,002,821 (GRCm39) L201Q probably damaging Het
Zgpat TGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGA 2: 181,007,811 (GRCm39) probably benign Het
Zmym4 C A 4: 126,762,593 (GRCm39) R1410L 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
R1915: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
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'- TAGAGATGGCTGGCAGTCTG -3'
(R):5'- ACTGAGCAGGTCTTTGAGAAG -3'

Sequencing Primer
(F):5'- AGTCTGATTGTCCCCCAGAAG -3'
(R):5'- AGAAGTTTTTACAAGCCTTGGG -3'
Posted On 2019-05-13