Incidental Mutation 'IGL00979:Col28a1'
ID27711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col28a1
Ensembl Gene ENSMUSG00000068794
Gene Namecollagen, type XXVIII, alpha 1
SynonymsCol28; Gm466
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL00979
Quality Score
Status
Chromosome6
Chromosomal Location7997808-8192617 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 8014810 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 865 (V865E)
Ref Sequence ENSEMBL: ENSMUSP00000111199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115537]
Predicted Effect probably damaging
Transcript: ENSMUST00000115537
AA Change: V865E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: V865E

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,860,545 K84M probably damaging Het
A4gnt T A 9: 99,620,436 Y216* probably null Het
Abcb1b A G 5: 8,825,293 probably benign Het
Ankrd50 G A 3: 38,452,414 probably benign Het
Catsperb A G 12: 101,415,325 T89A probably benign Het
Ccdc15 C T 9: 37,316,490 S236N probably benign Het
Cd34 A C 1: 194,949,508 T151P possibly damaging Het
Csf2rb T A 15: 78,348,104 V537E probably damaging Het
Cux2 A G 5: 121,873,714 F553L probably damaging Het
Dolk A T 2: 30,284,731 L434Q probably damaging Het
Dsg2 C A 18: 20,582,767 D255E probably damaging Het
Endov T C 11: 119,500,618 V144A probably damaging Het
Grik2 T C 10: 49,355,938 N499D probably damaging Het
Hephl1 G T 9: 15,067,045 T855K probably benign Het
Hif1a A G 12: 73,942,010 D557G probably damaging Het
Idh1 G A 1: 65,171,149 T75I probably damaging Het
Ighv1-37 A G 12: 114,896,450 S47P probably benign Het
Irx4 A G 13: 73,268,222 probably benign Het
Itpr1 C T 6: 108,471,120 A1871V probably damaging Het
Klkb1 A G 8: 45,294,068 probably benign Het
Lrrc8e T C 8: 4,235,080 L435P probably damaging Het
Megf11 T A 9: 64,508,727 Y73N probably damaging Het
Nfe2 T C 15: 103,249,180 D128G probably damaging Het
Olfr1301 T A 2: 111,754,426 M59K probably damaging Het
Olfr535 A G 7: 140,492,701 E21G probably benign Het
Pak6 C A 2: 118,696,482 L653I probably damaging Het
Pde4dip T A 3: 97,747,758 probably benign Het
Pds5a A G 5: 65,631,723 V831A probably benign Het
Ppp1r32 T C 19: 10,474,499 *428W probably null Het
Prc1 G T 7: 80,307,696 probably null Het
Ptprs C T 17: 56,458,243 G14S probably damaging Het
Pygb A G 2: 150,819,913 K520E probably benign Het
Rimbp2 A G 5: 128,806,441 S92P probably benign Het
Samd4b A T 7: 28,414,213 L109Q probably damaging Het
Scn8a A T 15: 100,955,406 probably benign Het
Sdc3 A G 4: 130,818,680 I23V unknown Het
Sec61a2 A G 2: 5,872,020 Y350H possibly damaging Het
Slc4a3 A T 1: 75,554,247 Q759L probably damaging Het
Speg C T 1: 75,410,734 P1378L probably damaging Het
Spta1 T G 1: 174,208,390 Y1087* probably null Het
Tenm4 A G 7: 96,729,391 E401G probably damaging Het
Tom1 C A 8: 75,054,703 probably benign Het
Ttc3 T A 16: 94,456,718 V1273D probably damaging Het
Vmn2r106 G T 17: 20,277,575 D467E possibly damaging Het
Washc4 A T 10: 83,550,883 T124S probably benign Het
Zfp790 A G 7: 29,829,609 E573G probably benign Het
Other mutations in Col28a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Col28a1 APN 6 8014795 missense probably damaging 1.00
IGL00329:Col28a1 APN 6 8175425 missense probably damaging 1.00
IGL00466:Col28a1 APN 6 8022081 splice site probably benign
IGL00544:Col28a1 APN 6 8162228 critical splice acceptor site probably null
IGL01475:Col28a1 APN 6 8103521 missense probably damaging 0.98
IGL01570:Col28a1 APN 6 8014540 missense probably damaging 0.99
IGL01688:Col28a1 APN 6 7998517 missense probably damaging 1.00
IGL01734:Col28a1 APN 6 8158134 missense probably damaging 0.99
IGL01911:Col28a1 APN 6 8014963 missense probably damaging 1.00
IGL01922:Col28a1 APN 6 8158133 missense probably damaging 0.96
IGL02567:Col28a1 APN 6 8014819 missense possibly damaging 0.91
IGL02641:Col28a1 APN 6 8014794 nonsense probably null
IGL02893:Col28a1 APN 6 8103534 missense probably damaging 1.00
IGL03062:Col28a1 APN 6 8017029 splice site probably benign
IGL03273:Col28a1 APN 6 8103484 splice site probably benign
P0043:Col28a1 UTSW 6 8168152 unclassified probably benign
R0034:Col28a1 UTSW 6 8175708 missense probably benign 0.32
R0543:Col28a1 UTSW 6 8075326 splice site probably benign
R0646:Col28a1 UTSW 6 8175291 missense possibly damaging 0.88
R0726:Col28a1 UTSW 6 8014495 critical splice donor site probably null
R1013:Col28a1 UTSW 6 7999452 splice site probably benign
R1054:Col28a1 UTSW 6 8175534 missense probably damaging 0.96
R1671:Col28a1 UTSW 6 8083773 missense possibly damaging 0.84
R1804:Col28a1 UTSW 6 8164612 critical splice donor site probably null
R1853:Col28a1 UTSW 6 8014574 missense probably benign 0.03
R1906:Col28a1 UTSW 6 7999644 missense probably benign 0.14
R1914:Col28a1 UTSW 6 8176333 missense probably benign 0.08
R1915:Col28a1 UTSW 6 8176333 missense probably benign 0.08
R1954:Col28a1 UTSW 6 7998516 missense probably damaging 1.00
R1997:Col28a1 UTSW 6 7999644 missense probably benign 0.14
R2011:Col28a1 UTSW 6 8059360 missense probably benign 0.05
R2023:Col28a1 UTSW 6 8083783 missense possibly damaging 0.66
R2149:Col28a1 UTSW 6 8155383 missense possibly damaging 0.83
R2285:Col28a1 UTSW 6 8097078 missense probably damaging 0.98
R2403:Col28a1 UTSW 6 8175641 missense possibly damaging 0.79
R3615:Col28a1 UTSW 6 8014942 missense probably damaging 1.00
R3616:Col28a1 UTSW 6 8014942 missense probably damaging 1.00
R3837:Col28a1 UTSW 6 8014601 missense possibly damaging 0.81
R4042:Col28a1 UTSW 6 8014678 missense probably damaging 0.98
R4084:Col28a1 UTSW 6 8013131 nonsense probably null
R4084:Col28a1 UTSW 6 8013132 missense possibly damaging 0.49
R4417:Col28a1 UTSW 6 8175666 missense possibly damaging 0.62
R4838:Col28a1 UTSW 6 8014559 missense probably benign 0.11
R5752:Col28a1 UTSW 6 8015025 missense possibly damaging 0.79
R5807:Col28a1 UTSW 6 8158144 missense probably benign 0.00
R6038:Col28a1 UTSW 6 8013140 missense probably benign 0.03
R6038:Col28a1 UTSW 6 8013140 missense probably benign 0.03
R6046:Col28a1 UTSW 6 8168102 splice site probably null
R6054:Col28a1 UTSW 6 8083748 missense possibly damaging 0.96
R6159:Col28a1 UTSW 6 8162247 intron probably null
R6306:Col28a1 UTSW 6 8014969 missense probably damaging 0.96
R6379:Col28a1 UTSW 6 8012996 missense probably benign 0.00
R6665:Col28a1 UTSW 6 8062277 missense probably benign 0.08
R6809:Col28a1 UTSW 6 7999468 missense probably damaging 0.99
R7023:Col28a1 UTSW 6 8083763 missense possibly damaging 0.92
R7101:Col28a1 UTSW 6 8014795 missense possibly damaging 0.95
R7117:Col28a1 UTSW 6 8013122 missense possibly damaging 0.89
R7375:Col28a1 UTSW 6 7998499 missense possibly damaging 0.46
Posted On2013-04-17