Incidental Mutation 'IGL01717:Col6a5'
ID 104975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col6a5
Ensembl Gene ENSMUSG00000091345
Gene Name collagen, type VI, alpha 5
Synonyms Gm7455, Col6a5
Accession Numbers
Essential gene? Probably essential (E-score: 0.839) question?
Stock # IGL01717
Quality Score
Status
Chromosome 9
Chromosomal Location 105733277-105837842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105817472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 280 (T280A)
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: T280A
SMART Domains Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: T280A

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: T280A
SMART Domains Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: T280A

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 A T 17: 35,390,531 (GRCm39) M73K probably damaging Het
Alk T C 17: 72,910,377 (GRCm39) I110V probably benign Het
Aoah T C 13: 21,184,147 (GRCm39) S404P probably damaging Het
Bhlhe41 A G 6: 145,808,763 (GRCm39) S350P possibly damaging Het
Bltp1 A G 3: 37,088,885 (GRCm39) S4112G probably benign Het
Capn12 A G 7: 28,588,530 (GRCm39) D540G probably benign Het
Chd6 A G 2: 160,807,179 (GRCm39) Y2012H possibly damaging Het
Col1a1 A G 11: 94,841,603 (GRCm39) T1284A unknown Het
Col24a1 T C 3: 145,230,018 (GRCm39) probably benign Het
Col4a5 T A X: 140,422,234 (GRCm39) V1070D unknown Het
Dicer1 A T 12: 104,669,046 (GRCm39) L1212* probably null Het
Gigyf1 T A 5: 137,523,953 (GRCm39) V1041E probably damaging Het
Gm4978 C T 9: 69,358,155 (GRCm39) probably benign Het
Gnai1 A G 5: 18,496,459 (GRCm39) probably null Het
Golgb1 C T 16: 36,735,864 (GRCm39) R1704* probably null Het
Incenp A G 19: 9,870,629 (GRCm39) probably benign Het
Lrrc39 A T 3: 116,373,146 (GRCm39) probably benign Het
Man2a2 T C 7: 80,017,113 (GRCm39) K319E probably damaging Het
Neb T C 2: 52,079,879 (GRCm39) D83G probably damaging Het
Osbpl6 T C 2: 76,418,938 (GRCm39) I732T probably damaging Het
Pacs1 T A 19: 5,218,000 (GRCm39) K130N probably damaging Het
Pappa2 A G 1: 158,684,702 (GRCm39) probably null Het
Pole2 T C 12: 69,260,623 (GRCm39) M186V probably damaging Het
Rwdd4a T C 8: 47,997,140 (GRCm39) probably benign Het
Sel1l3 A G 5: 53,357,510 (GRCm39) Y161H probably damaging Het
Sf3a2 C T 10: 80,640,526 (GRCm39) Q446* probably null Het
Slc26a3 T C 12: 31,513,476 (GRCm39) I466T probably benign Het
Slc29a4 A T 5: 142,704,501 (GRCm39) I348F probably damaging Het
Tbl1xr1 A G 3: 22,247,335 (GRCm39) probably benign Het
Tlr5 A T 1: 182,802,963 (GRCm39) I756F probably damaging Het
Ttn A T 2: 76,560,748 (GRCm39) L29218I probably damaging Het
Ttn T A 2: 76,560,746 (GRCm39) L29218F probably damaging 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
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
R5669:Col6a5 UTSW 9 105,803,197 (GRCm39) missense unknown
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
Posted On 2014-01-21