Incidental Mutation 'R6159:Col28a1'
ID 501889
Institutional Source Beutler Lab
Gene Symbol Col28a1
Ensembl Gene ENSMUSG00000068794
Gene Name collagen, type XXVIII, alpha 1
Synonyms
MMRRC Submission 044306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6159 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 7997808-8192617 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 8162247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115537]
AlphaFold Q2UY11
Predicted Effect probably null
Transcript: ENSMUST00000115537
SMART Domains Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794

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: 99.9%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 96% (54/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl2 A C 6: 29,908,457 (GRCm39) N609T possibly damaging Het
Ankzf1 G A 1: 75,170,888 (GRCm39) C98Y probably damaging Het
Atg101 T A 15: 101,188,519 (GRCm39) M208K possibly damaging Het
Baiap2l2 A G 15: 79,143,930 (GRCm39) I388T probably benign Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Chrnd T A 1: 87,118,812 (GRCm39) D56E probably benign Het
Col4a1 G T 8: 11,270,007 (GRCm39) P899Q probably damaging Het
Cts3 C A 13: 61,714,655 (GRCm39) A217S probably damaging Het
Dab2 A G 15: 6,465,941 (GRCm39) N495S possibly damaging Het
Dnah2 T A 11: 69,349,368 (GRCm39) I2423F probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock6 T C 9: 21,733,041 (GRCm39) H1053R probably benign Het
Eif1ad14 G A 12: 87,886,521 (GRCm39) A36V probably damaging Het
Fam184a G A 10: 53,574,869 (GRCm39) L191F probably damaging Het
Fbxl9 T C 8: 106,049,925 (GRCm39) Y33C probably damaging Het
Fip1l1 C T 5: 74,752,608 (GRCm39) R472W probably damaging Het
Gbp2 T C 3: 142,338,018 (GRCm39) F378S probably damaging Het
Ggt1 A T 10: 75,420,799 (GRCm39) E388V probably damaging Het
Gm14496 A G 2: 181,638,050 (GRCm39) T375A probably benign Het
Gm43302 A G 5: 105,436,894 (GRCm39) S71P probably benign Het
Gnrhr G T 5: 86,330,216 (GRCm39) T268K probably damaging Het
Htt T C 5: 34,962,020 (GRCm39) V335A probably benign Het
Klhl20 A T 1: 160,933,037 (GRCm39) L257H probably damaging Het
Med27 C A 2: 29,414,376 (GRCm39) probably null Het
Muc5ac T A 7: 141,369,323 (GRCm39) C2433S possibly damaging Het
Nasp A G 4: 116,461,086 (GRCm39) probably null Het
Nipal2 A C 15: 34,600,172 (GRCm39) V215G probably damaging Het
Or10al5 A T 17: 38,063,038 (GRCm39) I98F probably damaging Het
Or9i1b C T 19: 13,897,104 (GRCm39) T240I probably damaging Het
Oxct2b G A 4: 123,011,244 (GRCm39) R388H probably damaging Het
Pbrm1 A G 14: 30,774,240 (GRCm39) I469V possibly damaging Het
Phyhip A G 14: 70,704,294 (GRCm39) H171R possibly damaging Het
Pigs C T 11: 78,219,326 (GRCm39) T9M probably benign Het
Plek T C 11: 16,935,539 (GRCm39) D256G probably damaging Het
Prss50 T C 9: 110,693,371 (GRCm39) V369A probably benign Het
Psmc5 A G 11: 106,152,088 (GRCm39) K82E possibly damaging Het
Qrsl1 A T 10: 43,758,189 (GRCm39) F301L probably benign Het
Rasal1 T C 5: 120,797,673 (GRCm39) L135P probably damaging Het
Rbm47 A G 5: 66,184,159 (GRCm39) V148A probably damaging Het
Scyl1 T A 19: 5,814,785 (GRCm39) D381V probably benign Het
Selplg G T 5: 113,957,162 (GRCm39) D381E probably benign Het
Sh3rf2 C A 18: 42,289,200 (GRCm39) Q674K probably damaging Het
Sned1 A G 1: 93,210,659 (GRCm39) T987A probably benign Het
Sntb1 A G 15: 55,539,698 (GRCm39) probably null Het
Synj2 A T 17: 6,036,327 (GRCm39) I14F probably damaging Het
Taf2 A T 15: 54,926,440 (GRCm39) M170K possibly damaging Het
Tg A G 15: 66,607,096 (GRCm39) E211G possibly damaging Het
Thnsl1 G T 2: 21,217,016 (GRCm39) E257* probably null Het
Tlr4 A G 4: 66,758,070 (GRCm39) R288G possibly damaging Het
Trbc1 T C 6: 41,515,385 (GRCm39) probably benign Het
Trim37 G A 11: 87,107,374 (GRCm39) probably null Het
Txnrd3 T C 6: 89,640,176 (GRCm39) probably null Het
Tyk2 C A 9: 21,021,800 (GRCm39) Q875H probably damaging Het
Vmn2r55 A G 7: 12,385,698 (GRCm39) Y761H probably damaging Het
Zswim5 T C 4: 116,836,876 (GRCm39) L720P 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
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'- ACCCTGGAAACCTAAGAGGC -3'
(R):5'- TCTGGAACGGAGAGTAAACTGC -3'

Sequencing Primer
(F):5'- GGAAACCTAAGAGGCTTCTGCTTC -3'
(R):5'- CTGCAATAGGGAAACATAGCTTTAC -3'
Posted On 2017-12-04