Incidental Mutation 'R9327:Col28a1'
ID 706569
Institutional Source Beutler Lab
Gene Symbol Col28a1
Ensembl Gene ENSMUSG00000068794
Gene Name collagen, type XXVIII, alpha 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R9327 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 7997808-8192617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8175653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 65 (D65G)
Ref Sequence ENSEMBL: ENSMUSP00000111199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115537] [ENSMUST00000213284]
AlphaFold Q2UY11
Predicted Effect unknown
Transcript: ENSMUST00000115537
AA Change: D65G
SMART Domains Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: D65G

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 unknown
Transcript: ENSMUST00000213284
AA Change: D65G
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,895,499 (GRCm39) M194K probably benign Het
Abcg1 T C 17: 31,333,122 (GRCm39) S622P probably benign Het
Ahnak2 A T 12: 112,748,446 (GRCm39) V467E Het
Amdhd2 T C 17: 24,377,421 (GRCm39) E164G probably benign Het
Ank3 G A 10: 69,812,086 (GRCm39) probably null Het
Bank1 A T 3: 135,799,308 (GRCm39) N545K probably benign Het
C9orf72 A G 4: 35,205,883 (GRCm39) I247T Het
Cep63 T C 9: 102,467,723 (GRCm39) I548V probably benign Het
Cspg4b C A 13: 113,453,710 (GRCm39) Q58K Het
Cyp2c50 A G 19: 40,079,010 (GRCm39) N118D probably benign Het
Dock10 C T 1: 80,510,184 (GRCm39) C1549Y probably damaging Het
Epg5 A G 18: 77,991,435 (GRCm39) E44G probably benign Het
Ephb4 T C 5: 137,361,529 (GRCm39) S520P probably damaging Het
Eppk1 T C 15: 75,993,755 (GRCm39) E1042G probably benign Het
Fmod A T 1: 133,968,589 (GRCm39) N210Y probably damaging Het
Fpr3 A G 17: 18,191,713 (GRCm39) D328G probably damaging Het
Garem2 T G 5: 30,321,989 (GRCm39) C783G probably benign Het
Gm10542 A G 18: 44,337,689 (GRCm39) N56D probably damaging Het
Gm20939 T A 17: 95,184,424 (GRCm39) N357K probably benign Het
Hr A G 14: 70,805,228 (GRCm39) H990R possibly damaging Het
Il21r A G 7: 125,226,163 (GRCm39) N53S unknown Het
Insrr C T 3: 87,721,604 (GRCm39) T1170I probably damaging Het
Itga11 A G 9: 62,638,034 (GRCm39) M103V probably damaging Het
Izumo3 G T 4: 92,035,050 (GRCm39) Q56K probably damaging Het
Kcnh8 T C 17: 53,146,084 (GRCm39) V324A probably damaging Het
Kcnj2 T A 11: 110,963,719 (GRCm39) N370K probably benign Het
Klf16 G T 10: 80,412,688 (GRCm39) S116* probably null Het
Mettl16 T C 11: 74,696,089 (GRCm39) V310A probably benign Het
Misp3 G T 8: 84,737,080 (GRCm39) Q105K unknown Het
Mmrn2 G A 14: 34,097,473 (GRCm39) probably benign Het
Mtcl1 A G 17: 66,645,130 (GRCm39) L1888P probably damaging Het
Muc5ac A C 7: 141,365,429 (GRCm39) T1984P possibly damaging Het
Myo16 G T 8: 10,489,705 (GRCm39) probably null Het
Nckipsd T C 9: 108,691,699 (GRCm39) I466T possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Npffr2 A G 5: 89,730,661 (GRCm39) H197R probably benign Het
Nrap T A 19: 56,340,100 (GRCm39) M842L probably benign Het
Nxpe4 G A 9: 48,309,984 (GRCm39) A416T probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or51t4 T C 7: 102,597,687 (GRCm39) V5A probably benign Het
Or52n20 A G 7: 104,320,742 (GRCm39) I278V probably damaging Het
Or5p53 T A 7: 107,533,019 (GRCm39) C97* probably null Het
Ppp1r15a C T 7: 45,174,035 (GRCm39) A258T possibly damaging Het
Prss36 A T 7: 127,532,570 (GRCm39) Y760* probably null Het
Psg26 T A 7: 18,216,480 (GRCm39) T120S probably damaging Het
Ptk7 A T 17: 46,878,977 (GRCm39) L908Q probably benign Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Slc25a44 A T 3: 88,328,025 (GRCm39) H155Q probably benign Het
Smarcc2 A G 10: 128,321,486 (GRCm39) T894A probably damaging Het
Tle4 A G 19: 14,574,149 (GRCm39) F39L probably damaging Het
Tmem181a G A 17: 6,346,048 (GRCm39) V181M possibly damaging Het
Tmt1b A G 10: 128,794,607 (GRCm39) M239T probably benign Het
Trpm3 T C 19: 22,896,004 (GRCm39) V947A possibly damaging Het
Txndc16 G A 14: 45,379,448 (GRCm39) T663I probably benign Het
Vmn2r45 T C 7: 8,474,532 (GRCm39) Y832C probably damaging Het
Vmn2r9 T C 5: 108,996,841 (GRCm39) T143A probably damaging Het
Vps26b T C 9: 26,930,750 (GRCm39) N82D probably benign Het
Zfp318 T G 17: 46,721,892 (GRCm39) F1298L 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
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
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'- CTTGACCCGCTGCTTAAATG -3'
(R):5'- CTATTCCTATGATGAATGCAGACAC -3'

Sequencing Primer
(F):5'- GCTGCTTAAATGTCCGGAGATCC -3'
(R):5'- TGCAGACACATTTTCTCATTTGG -3'
Posted On 2022-04-18