Incidental Mutation 'IGL01922:Col28a1'
ID 180124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col28a1
Ensembl Gene ENSMUSG00000068794
Gene Name collagen, type XXVIII, alpha 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL01922
Quality Score
Status
Chromosome 6
Chromosomal Location 7997808-8192617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 8158133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 308 (D308E)
Ref Sequence ENSEMBL: ENSMUSP00000111199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115537]
AlphaFold Q2UY11
Predicted Effect probably damaging
Transcript: ENSMUST00000115537
AA Change: D308E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: D308E

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 C A 7: 133,539,201 (GRCm39) G104* probably null Het
Adamtsl1 A G 4: 86,168,139 (GRCm39) K477R probably damaging Het
Arhgap35 A C 7: 16,298,180 (GRCm39) V295G possibly damaging Het
Cacna1c A T 6: 118,629,629 (GRCm39) I1234N probably damaging Het
Cntnap5c A G 17: 58,637,114 (GRCm39) E997G possibly damaging Het
Cog6 T C 3: 52,893,846 (GRCm39) N601S probably benign Het
Cplane1 A G 15: 8,300,305 (GRCm39) K3204R unknown Het
Cspg4 G A 9: 56,795,171 (GRCm39) D969N probably damaging Het
Dhx8 G A 11: 101,630,633 (GRCm39) V347I probably damaging Het
Dnah9 G T 11: 65,965,860 (GRCm39) probably benign Het
Erap1 T C 13: 74,810,506 (GRCm39) Y282H probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-T3 A G 17: 36,497,992 (GRCm39) M307T possibly damaging Het
Ifi204 T C 1: 173,589,288 (GRCm39) I48V possibly damaging Het
Myh1 T C 11: 67,101,292 (GRCm39) probably null Het
Nphp1 T C 2: 127,621,989 (GRCm39) Y46C possibly damaging Het
Odad3 G T 9: 21,904,826 (GRCm39) probably benign Het
Or14j7 A T 17: 38,234,850 (GRCm39) H131L possibly damaging Het
Or2t46 G A 11: 58,471,899 (GRCm39) M76I probably benign Het
Piezo1 G T 8: 123,219,431 (GRCm39) S1066R probably benign Het
Plekhh1 T C 12: 79,126,353 (GRCm39) S1353P probably benign Het
Prl6a1 A T 13: 27,499,343 (GRCm39) D37V possibly damaging Het
Scn4a A G 11: 106,229,978 (GRCm39) probably null Het
Selenoo T C 15: 88,983,852 (GRCm39) V585A probably benign Het
Tmf1 T C 6: 97,153,891 (GRCm39) T61A probably benign Het
Tshz3 A G 7: 36,469,030 (GRCm39) T340A probably damaging Het
Unc50 A G 1: 37,476,284 (GRCm39) D148G probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpc C T 6: 91,482,407 (GRCm39) R192H 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
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
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
Posted On 2014-05-07