Incidental Mutation 'R5669:Col6a5'
ID 442518
Institutional Source Beutler Lab
Gene Symbol Col6a5
Ensembl Gene ENSMUSG00000091345
Gene Name collagen, type VI, alpha 5
Synonyms Gm7455, Col6a5
MMRRC Submission 043312-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.839) question?
Stock # R5669 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 105733277-105837842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105803197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1256 (I1256T)
Ref Sequence ENSEMBL: ENSMUSP00000139398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165165] [ENSMUST00000190193]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000165165
AA Change: I1256T
SMART Domains Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: I1256T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
VWA 28 200 1.8e-24 SMART
low complexity region 222 248 N/A INTRINSIC
VWA 266 439 2.23e-20 SMART
VWA 472 649 6.84e-39 SMART
VWA 658 834 1.52e-45 SMART
VWA 844 1024 2.44e-44 SMART
VWA 1035 1208 2.95e-20 SMART
Pfam:Collagen 1425 1478 3.3e-8 PFAM
low complexity region 1493 1508 N/A INTRINSIC
low complexity region 1535 1552 N/A INTRINSIC
Pfam:Collagen 1555 1616 9.6e-10 PFAM
low complexity region 1711 1730 N/A INTRINSIC
low complexity region 1739 1757 N/A INTRINSIC
VWA 1788 1964 1.99e-17 SMART
VWA 1994 2173 5.98e-21 SMART
VWA 2319 2513 4.4e-19 SMART
Predicted Effect unknown
Transcript: ENSMUST00000190193
AA Change: I1256T
SMART Domains Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: I1256T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
VWA 28 200 1.1e-26 SMART
low complexity region 222 248 N/A INTRINSIC
VWA 266 439 1.4e-22 SMART
VWA 472 649 4.4e-41 SMART
VWA 658 834 9.5e-48 SMART
VWA 844 1024 1.6e-46 SMART
VWA 1035 1208 1.9e-22 SMART
Pfam:Collagen 1425 1478 1.2e-6 PFAM
Pfam:Collagen 1457 1530 5.9e-6 PFAM
low complexity region 1535 1552 N/A INTRINSIC
Pfam:Collagen 1555 1616 3.6e-8 PFAM
Pfam:Collagen 1631 1691 8.4e-6 PFAM
Pfam:Collagen 1706 1764 6.6e-6 PFAM
VWA 1788 1964 1.2e-19 SMART
VWA 1994 2173 3.7e-23 SMART
VWA 2319 2513 2.8e-21 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Akap9 T A 5: 4,100,540 (GRCm39) L2734* probably null Het
Aldh1a1 T C 19: 20,588,284 (GRCm39) I25T probably damaging Het
Astl G T 2: 127,189,199 (GRCm39) R175L probably damaging Het
BC035947 A T 1: 78,474,550 (GRCm39) C661S probably damaging Het
Cd160 C T 3: 96,716,214 (GRCm39) probably benign Het
Cdc42bpb C T 12: 111,268,447 (GRCm39) probably null Het
Cdip1 T A 16: 4,586,679 (GRCm39) I149F probably damaging Het
Cfap65 T C 1: 74,964,127 (GRCm39) Y607C probably damaging Het
Copb1 A G 7: 113,836,820 (GRCm39) V336A probably damaging Het
Ddx42 A T 11: 106,132,645 (GRCm39) D556V probably damaging Het
Dlk1 T C 12: 109,425,964 (GRCm39) V279A probably benign Het
Fbll1 T C 11: 35,688,411 (GRCm39) N284S probably benign Het
Fbxw21 A T 9: 108,974,578 (GRCm39) I314N probably benign Het
Foxa3 T C 7: 18,748,176 (GRCm39) T317A probably benign Het
Gpr37 A T 6: 25,669,351 (GRCm39) C498S probably benign Het
Hapln3 G T 7: 78,767,244 (GRCm39) probably null Het
Igkv4-54 A G 6: 69,608,832 (GRCm39) V29A possibly damaging Het
Itgb8 T A 12: 119,154,363 (GRCm39) I225F probably damaging Het
Kcnk3 A G 5: 30,779,693 (GRCm39) T248A probably damaging Het
Kcnv1 T C 15: 44,977,648 (GRCm39) Q130R possibly damaging Het
Lrp1b T C 2: 41,001,050 (GRCm39) H2058R probably damaging Het
Macf1 T A 4: 123,370,018 (GRCm39) E1581V probably damaging Het
Mga A G 2: 119,733,907 (GRCm39) N252D probably damaging Het
Nadsyn1 C T 7: 143,361,168 (GRCm39) G335S probably damaging Het
Or10ag53 T C 2: 87,082,785 (GRCm39) V168A probably benign Het
Or7e165 T C 9: 19,695,053 (GRCm39) F208S probably benign Het
Pak5 G A 2: 135,958,204 (GRCm39) P295S probably damaging Het
Pcsk1 T A 13: 75,278,221 (GRCm39) S595T probably benign Het
Pepd T C 7: 34,740,099 (GRCm39) V324A probably benign Het
Pml C T 9: 58,154,346 (GRCm39) D176N probably benign Het
Popdc3 T A 10: 45,192,529 (GRCm39) I163N probably damaging Het
Ppp1r13l A C 7: 19,106,947 (GRCm39) T481P probably benign Het
Pramel13 T C 4: 144,122,413 (GRCm39) I44V probably benign Het
Prlh A G 1: 90,880,842 (GRCm39) T5A probably benign Het
Prom1 A G 5: 44,170,285 (GRCm39) F638S possibly damaging Het
Prpf8 T A 11: 75,395,564 (GRCm39) L1897H probably damaging Het
Ret T C 6: 118,161,204 (GRCm39) T91A probably benign Het
Retsat A G 6: 72,582,993 (GRCm39) S176G probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf213 T C 11: 119,349,611 (GRCm39) L3823P possibly damaging Het
Rnf31 C T 14: 55,834,161 (GRCm39) A653V probably damaging Het
Rps6kl1 T C 12: 85,194,641 (GRCm39) D90G probably damaging Het
Scarb1 A G 5: 125,377,451 (GRCm39) Y194H probably damaging Het
Scube2 C T 7: 109,424,646 (GRCm39) A556T probably benign Het
Serpinb1a A G 13: 33,029,299 (GRCm39) L243P probably damaging Het
Slc39a4 A C 15: 76,498,363 (GRCm39) L358R probably damaging Het
Slitrk5 A G 14: 111,919,055 (GRCm39) D893G probably damaging Het
Srgap1 C A 10: 121,640,755 (GRCm39) V681L probably benign Het
Tmprss6 A T 15: 78,339,156 (GRCm39) M262K possibly damaging Het
Ttf2 T A 3: 100,858,433 (GRCm39) K719* probably null Het
Vmn1r62 T A 7: 5,678,736 (GRCm39) L139* probably null Het
Zfp1004 A G 2: 150,034,098 (GRCm39) I140V probably benign Het
Other mutations in Col6a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Col6a5 APN 9 105,759,882 (GRCm39) missense probably damaging 1.00
IGL01462:Col6a5 APN 9 105,823,274 (GRCm39) missense unknown
IGL01530:Col6a5 APN 9 105,792,385 (GRCm39) splice site probably benign
IGL01717:Col6a5 APN 9 105,817,472 (GRCm39) missense unknown
IGL01859:Col6a5 APN 9 105,808,160 (GRCm39) nonsense probably null
IGL01945:Col6a5 APN 9 105,805,489 (GRCm39) missense unknown
IGL01985:Col6a5 APN 9 105,814,482 (GRCm39) missense unknown
IGL02128:Col6a5 APN 9 105,817,093 (GRCm39) missense unknown
IGL02170:Col6a5 APN 9 105,805,621 (GRCm39) missense unknown
IGL02224:Col6a5 APN 9 105,741,534 (GRCm39) missense probably damaging 1.00
IGL02246:Col6a5 APN 9 105,788,306 (GRCm39) nonsense probably null
IGL02304:Col6a5 APN 9 105,805,613 (GRCm39) missense unknown
IGL02338:Col6a5 APN 9 105,755,829 (GRCm39) missense probably damaging 1.00
IGL02375:Col6a5 APN 9 105,783,312 (GRCm39) missense unknown
IGL02660:Col6a5 APN 9 105,814,085 (GRCm39) missense unknown
IGL02829:Col6a5 APN 9 105,811,506 (GRCm39) missense unknown
IGL02882:Col6a5 APN 9 105,811,520 (GRCm39) missense unknown
IGL02973:Col6a5 APN 9 105,803,020 (GRCm39) missense unknown
IGL03089:Col6a5 APN 9 105,811,038 (GRCm39) missense unknown
IGL03100:Col6a5 APN 9 105,814,512 (GRCm39) missense unknown
IGL03257:Col6a5 APN 9 105,759,072 (GRCm39) missense possibly damaging 0.95
FR4340:Col6a5 UTSW 9 105,811,373 (GRCm39) missense unknown
FR4342:Col6a5 UTSW 9 105,811,373 (GRCm39) missense unknown
FR4589:Col6a5 UTSW 9 105,811,373 (GRCm39) missense unknown
PIT4131001:Col6a5 UTSW 9 105,759,113 (GRCm39) missense probably damaging 0.98
R0147:Col6a5 UTSW 9 105,802,993 (GRCm39) missense unknown
R0549:Col6a5 UTSW 9 105,781,778 (GRCm39) splice site probably benign
R0622:Col6a5 UTSW 9 105,803,051 (GRCm39) missense unknown
R0628:Col6a5 UTSW 9 105,789,649 (GRCm39) splice site probably null
R0635:Col6a5 UTSW 9 105,805,805 (GRCm39) missense unknown
R0644:Col6a5 UTSW 9 105,825,523 (GRCm39) critical splice donor site probably null
R0828:Col6a5 UTSW 9 105,739,263 (GRCm39) critical splice acceptor site probably null
R0972:Col6a5 UTSW 9 105,817,484 (GRCm39) missense unknown
R1065:Col6a5 UTSW 9 105,758,982 (GRCm39) missense probably damaging 0.99
R1142:Col6a5 UTSW 9 105,811,516 (GRCm39) missense unknown
R1169:Col6a5 UTSW 9 105,774,173 (GRCm39) splice site probably null
R1522:Col6a5 UTSW 9 105,817,193 (GRCm39) missense unknown
R1646:Col6a5 UTSW 9 105,739,948 (GRCm39) nonsense probably null
R1719:Col6a5 UTSW 9 105,808,492 (GRCm39) missense unknown
R1759:Col6a5 UTSW 9 105,808,045 (GRCm39) missense unknown
R1780:Col6a5 UTSW 9 105,814,077 (GRCm39) missense unknown
R1812:Col6a5 UTSW 9 105,805,253 (GRCm39) missense unknown
R1838:Col6a5 UTSW 9 105,742,032 (GRCm39) missense probably benign 0.28
R1839:Col6a5 UTSW 9 105,742,032 (GRCm39) missense probably benign 0.28
R1863:Col6a5 UTSW 9 105,817,400 (GRCm39) missense unknown
R1900:Col6a5 UTSW 9 105,808,412 (GRCm39) missense unknown
R1951:Col6a5 UTSW 9 105,814,156 (GRCm39) missense unknown
R2024:Col6a5 UTSW 9 105,814,193 (GRCm39) missense unknown
R2126:Col6a5 UTSW 9 105,822,799 (GRCm39) missense unknown
R2319:Col6a5 UTSW 9 105,814,417 (GRCm39) missense unknown
R2344:Col6a5 UTSW 9 105,805,736 (GRCm39) missense unknown
R2483:Col6a5 UTSW 9 105,741,347 (GRCm39) missense probably damaging 1.00
R3176:Col6a5 UTSW 9 105,788,306 (GRCm39) nonsense probably null
R3276:Col6a5 UTSW 9 105,788,306 (GRCm39) nonsense probably null
R3438:Col6a5 UTSW 9 105,752,991 (GRCm39) missense possibly damaging 0.88
R3791:Col6a5 UTSW 9 105,741,868 (GRCm39) missense probably damaging 0.99
R3840:Col6a5 UTSW 9 105,805,810 (GRCm39) missense unknown
R3886:Col6a5 UTSW 9 105,808,129 (GRCm39) missense unknown
R3941:Col6a5 UTSW 9 105,817,033 (GRCm39) missense unknown
R4194:Col6a5 UTSW 9 105,823,113 (GRCm39) missense unknown
R4399:Col6a5 UTSW 9 105,766,164 (GRCm39) missense possibly damaging 0.75
R4421:Col6a5 UTSW 9 105,805,672 (GRCm39) missense unknown
R4450:Col6a5 UTSW 9 105,781,720 (GRCm39) missense unknown
R4491:Col6a5 UTSW 9 105,817,211 (GRCm39) missense unknown
R4582:Col6a5 UTSW 9 105,739,963 (GRCm39) missense probably benign 0.17
R4693:Col6a5 UTSW 9 105,814,371 (GRCm39) missense unknown
R4787:Col6a5 UTSW 9 105,808,280 (GRCm39) missense unknown
R4789:Col6a5 UTSW 9 105,814,534 (GRCm39) missense unknown
R4791:Col6a5 UTSW 9 105,807,983 (GRCm39) missense unknown
R4792:Col6a5 UTSW 9 105,807,983 (GRCm39) missense unknown
R4817:Col6a5 UTSW 9 105,811,497 (GRCm39) missense unknown
R4854:Col6a5 UTSW 9 105,775,950 (GRCm39) missense probably benign 0.18
R4927:Col6a5 UTSW 9 105,811,163 (GRCm39) missense unknown
R4969:Col6a5 UTSW 9 105,741,806 (GRCm39) missense probably damaging 1.00
R5037:Col6a5 UTSW 9 105,805,337 (GRCm39) missense unknown
R5118:Col6a5 UTSW 9 105,814,204 (GRCm39) missense unknown
R5144:Col6a5 UTSW 9 105,766,482 (GRCm39) missense probably damaging 1.00
R5145:Col6a5 UTSW 9 105,811,444 (GRCm39) missense unknown
R5160:Col6a5 UTSW 9 105,808,208 (GRCm39) missense unknown
R5182:Col6a5 UTSW 9 105,734,531 (GRCm39) nonsense probably null
R5234:Col6a5 UTSW 9 105,741,404 (GRCm39) missense probably damaging 1.00
R5252:Col6a5 UTSW 9 105,817,489 (GRCm39) missense unknown
R5290:Col6a5 UTSW 9 105,823,282 (GRCm39) missense unknown
R5313:Col6a5 UTSW 9 105,822,743 (GRCm39) missense unknown
R5321:Col6a5 UTSW 9 105,805,664 (GRCm39) missense unknown
R5466:Col6a5 UTSW 9 105,808,282 (GRCm39) missense unknown
R5540:Col6a5 UTSW 9 105,739,975 (GRCm39) missense probably benign 0.44
R5789:Col6a5 UTSW 9 105,741,807 (GRCm39) missense possibly damaging 0.91
R5801:Col6a5 UTSW 9 105,825,566 (GRCm39) missense unknown
R5827:Col6a5 UTSW 9 105,805,319 (GRCm39) nonsense probably null
R5839:Col6a5 UTSW 9 105,822,592 (GRCm39) critical splice donor site probably null
R5908:Col6a5 UTSW 9 105,740,000 (GRCm39) missense possibly damaging 0.88
R5970:Col6a5 UTSW 9 105,823,046 (GRCm39) missense unknown
R6045:Col6a5 UTSW 9 105,803,117 (GRCm39) missense unknown
R6107:Col6a5 UTSW 9 105,769,471 (GRCm39) nonsense probably null
R6168:Col6a5 UTSW 9 105,752,986 (GRCm39) critical splice donor site probably null
R6315:Col6a5 UTSW 9 105,759,169 (GRCm39) missense probably damaging 1.00
R6317:Col6a5 UTSW 9 105,766,266 (GRCm39) missense probably damaging 1.00
R6414:Col6a5 UTSW 9 105,769,465 (GRCm39) splice site probably null
R6434:Col6a5 UTSW 9 105,814,544 (GRCm39) missense unknown
R6456:Col6a5 UTSW 9 105,822,676 (GRCm39) missense unknown
R6698:Col6a5 UTSW 9 105,811,374 (GRCm39) missense unknown
R6876:Col6a5 UTSW 9 105,814,506 (GRCm39) missense unknown
R6882:Col6a5 UTSW 9 105,817,469 (GRCm39) nonsense probably null
R6928:Col6a5 UTSW 9 105,817,118 (GRCm39) missense unknown
R7024:Col6a5 UTSW 9 105,789,674 (GRCm39) nonsense probably null
R7038:Col6a5 UTSW 9 105,822,937 (GRCm39) missense unknown
R7082:Col6a5 UTSW 9 105,808,438 (GRCm39) missense unknown
R7158:Col6a5 UTSW 9 105,741,407 (GRCm39) missense possibly damaging 0.90
R7211:Col6a5 UTSW 9 105,805,363 (GRCm39) missense unknown
R7431:Col6a5 UTSW 9 105,805,468 (GRCm39) missense unknown
R7440:Col6a5 UTSW 9 105,758,630 (GRCm39) nonsense probably null
R7502:Col6a5 UTSW 9 105,753,075 (GRCm39) missense probably benign 0.05
R7577:Col6a5 UTSW 9 105,741,887 (GRCm39) nonsense probably null
R7582:Col6a5 UTSW 9 105,822,625 (GRCm39) missense unknown
R7641:Col6a5 UTSW 9 105,758,625 (GRCm39) nonsense probably null
R7762:Col6a5 UTSW 9 105,808,523 (GRCm39) missense unknown
R7793:Col6a5 UTSW 9 105,775,934 (GRCm39) missense probably damaging 1.00
R7821:Col6a5 UTSW 9 105,741,458 (GRCm39) missense probably damaging 1.00
R7848:Col6a5 UTSW 9 105,805,385 (GRCm39) missense unknown
R7897:Col6a5 UTSW 9 105,766,382 (GRCm39) missense possibly damaging 0.96
R7904:Col6a5 UTSW 9 105,805,720 (GRCm39) missense unknown
R7960:Col6a5 UTSW 9 105,823,049 (GRCm39) missense unknown
R8015:Col6a5 UTSW 9 105,758,940 (GRCm39) missense possibly damaging 0.65
R8100:Col6a5 UTSW 9 105,755,839 (GRCm39) missense probably damaging 1.00
R8131:Col6a5 UTSW 9 105,778,815 (GRCm39) missense unknown
R8418:Col6a5 UTSW 9 105,755,821 (GRCm39) missense probably damaging 1.00
R8425:Col6a5 UTSW 9 105,823,156 (GRCm39) missense unknown
R8678:Col6a5 UTSW 9 105,811,551 (GRCm39) missense unknown
R8690:Col6a5 UTSW 9 105,759,796 (GRCm39) missense probably damaging 0.97
R8847:Col6a5 UTSW 9 105,741,472 (GRCm39) missense possibly damaging 0.81
R8946:Col6a5 UTSW 9 105,822,833 (GRCm39) missense unknown
R8947:Col6a5 UTSW 9 105,822,833 (GRCm39) missense unknown
R8949:Col6a5 UTSW 9 105,822,833 (GRCm39) missense unknown
R8950:Col6a5 UTSW 9 105,822,833 (GRCm39) missense unknown
R9089:Col6a5 UTSW 9 105,766,142 (GRCm39) missense probably damaging 1.00
R9118:Col6a5 UTSW 9 105,755,853 (GRCm39) splice site probably benign
R9169:Col6a5 UTSW 9 105,822,596 (GRCm39) missense unknown
R9177:Col6a5 UTSW 9 105,808,152 (GRCm39) missense unknown
R9180:Col6a5 UTSW 9 105,739,178 (GRCm39) missense probably damaging 0.99
R9205:Col6a5 UTSW 9 105,755,837 (GRCm39) missense probably damaging 1.00
R9214:Col6a5 UTSW 9 105,758,940 (GRCm39) missense possibly damaging 0.65
R9224:Col6a5 UTSW 9 105,814,594 (GRCm39) missense unknown
R9279:Col6a5 UTSW 9 105,758,976 (GRCm39) missense probably damaging 1.00
R9383:Col6a5 UTSW 9 105,803,110 (GRCm39) missense unknown
R9427:Col6a5 UTSW 9 105,816,992 (GRCm39) missense unknown
R9488:Col6a5 UTSW 9 105,741,788 (GRCm39) missense probably damaging 1.00
R9494:Col6a5 UTSW 9 105,822,732 (GRCm39) missense unknown
R9659:Col6a5 UTSW 9 105,811,034 (GRCm39) missense unknown
R9749:Col6a5 UTSW 9 105,739,190 (GRCm39) missense probably damaging 0.98
RF013:Col6a5 UTSW 9 105,755,796 (GRCm39) frame shift probably null
X0054:Col6a5 UTSW 9 105,792,357 (GRCm39) missense unknown
X0058:Col6a5 UTSW 9 105,758,977 (GRCm39) nonsense probably null
Z1088:Col6a5 UTSW 9 105,803,266 (GRCm39) missense unknown
Z1177:Col6a5 UTSW 9 105,807,984 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGTCCCAAAGTGACTGCAAG -3'
(R):5'- CACTGCCTGGAGTATGACAAAATC -3'

Sequencing Primer
(F):5'- TGCATCCAGATGAGTTGGTCCAC -3'
(R):5'- GCCTGGAGTATGACAAAATCATCTC -3'
Posted On 2016-11-09