Incidental Mutation 'R9089:Col6a5'
ID 690833
Institutional Source Beutler Lab
Gene Symbol Col6a5
Ensembl Gene ENSMUSG00000091345
Gene Name collagen, type VI, alpha 5
Synonyms Gm7455, Col6a5
MMRRC Submission 068907-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.839) question?
Stock # R9089 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 105733277-105837842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 105766142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 1926 (I1926S)
Ref Sequence ENSEMBL: ENSMUSP00000139398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165165] [ENSMUST00000190193]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000165165
AA Change: I1926S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: I1926S

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 probably damaging
Transcript: ENSMUST00000190193
AA Change: I1926S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: I1926S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T A 17: 48,347,951 (GRCm39) R118* probably null Het
Acadsb T C 7: 131,027,504 (GRCm39) V68A probably damaging Het
Adgb T C 10: 10,318,432 (GRCm39) R137G probably benign Het
Adgrl3 C A 5: 81,808,291 (GRCm39) N622K possibly damaging Het
Ager C A 17: 34,819,579 (GRCm39) P366T probably benign Het
Barx2 C A 9: 31,765,443 (GRCm39) W184L probably damaging Het
Bckdha A C 7: 25,341,144 (GRCm39) N72K probably benign Het
Blm A T 7: 80,162,867 (GRCm39) D161E probably damaging Het
Ccdc121rt2 A T 5: 112,598,757 (GRCm39) R435W probably damaging Het
Cd96 G T 16: 45,870,068 (GRCm39) T467N probably benign Het
Cdk13 A T 13: 17,978,444 (GRCm39) S265T unknown Het
Csgalnact2 A T 6: 118,097,983 (GRCm39) V361D probably damaging Het
Cstf1 T A 2: 172,217,807 (GRCm39) M140K Het
Ddx41 A T 13: 55,683,424 (GRCm39) S128T probably benign Het
Deaf1 A T 7: 140,877,465 (GRCm39) V554D probably damaging Het
Dido1 C T 2: 180,303,293 (GRCm39) S1537N probably benign Het
Dmwd T C 7: 18,811,980 (GRCm39) S145P probably damaging Het
Eftud2 A G 11: 102,759,971 (GRCm39) S125P probably benign Het
Gga1 A G 15: 78,773,952 (GRCm39) D325G probably damaging Het
Gm43518 T C 5: 124,072,329 (GRCm39) probably null Het
Got1l1 A T 8: 27,690,889 (GRCm39) V53E probably damaging Het
Helz2 A T 2: 180,881,433 (GRCm39) C350S probably damaging Het
Ipo7 T A 7: 109,643,666 (GRCm39) F398I possibly damaging Het
Itga11 A G 9: 62,678,662 (GRCm39) N943S probably damaging Het
Itpa T A 2: 130,509,857 (GRCm39) probably null Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kbtbd4 A T 2: 90,737,909 (GRCm39) N220Y possibly damaging Het
Kdm5b T A 1: 134,535,506 (GRCm39) F594L probably damaging Het
Klhdc4 C T 8: 122,524,684 (GRCm39) V446I probably benign Het
Klk1b1 A G 7: 43,620,668 (GRCm39) I253V possibly damaging Het
Kynu T A 2: 43,489,620 (GRCm39) M135K probably damaging Het
Lgi1 T C 19: 38,294,095 (GRCm39) I289T possibly damaging Het
Lhx2 A G 2: 38,250,045 (GRCm39) N288S probably damaging Het
Lrp6 G C 6: 134,488,169 (GRCm39) A309G probably damaging Het
Map2 T A 1: 66,452,098 (GRCm39) N329K probably benign Het
Med15 G A 16: 17,473,421 (GRCm39) P476L unknown Het
Muc16 A T 9: 18,555,846 (GRCm39) N3482K unknown Het
Nemf A C 12: 69,400,628 (GRCm39) V149G probably damaging Het
Notch3 T C 17: 32,370,521 (GRCm39) S706G probably benign Het
Nphp4 T C 4: 152,645,673 (GRCm39) V1227A possibly damaging Het
Or1e31 A G 11: 73,690,052 (GRCm39) F177S probably damaging Het
Or2a52 A T 6: 43,144,917 (GRCm39) R308S probably benign Het
Or6c70 A G 10: 129,710,488 (GRCm39) L46P probably damaging Het
Parp2 A G 14: 51,052,327 (GRCm39) T102A probably damaging Het
Pcdhgc3 T C 18: 37,941,264 (GRCm39) V555A possibly damaging Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Ralgapa1 A C 12: 55,723,351 (GRCm39) L1725R probably damaging Het
Reln G T 5: 22,130,198 (GRCm39) D2704E probably benign Het
Sart3 C A 5: 113,891,756 (GRCm39) E405D possibly damaging Het
Scin A T 12: 40,131,703 (GRCm39) L277* probably null Het
Sec62 T A 3: 30,868,383 (GRCm39) V204E probably benign Het
Serpina3a T C 12: 104,085,956 (GRCm39) I137T possibly damaging Het
Sh3rf1 T C 8: 61,825,613 (GRCm39) M536T probably benign Het
Slc45a4 T C 15: 73,457,953 (GRCm39) H532R probably damaging Het
Svs5 A G 2: 164,079,341 (GRCm39) F189L probably benign Het
Synm T C 7: 67,408,766 (GRCm39) D204G probably damaging Het
Tmtc1 A T 6: 148,147,215 (GRCm39) H827Q possibly damaging Het
Tnfrsf25 T A 4: 152,201,929 (GRCm39) C135* probably null Het
Unc13b T G 4: 43,095,847 (GRCm39) I85S probably damaging Het
Ush2a T A 1: 188,487,374 (GRCm39) Y3047* probably null Het
Vmn1r75 T C 7: 11,614,453 (GRCm39) S62P probably damaging Het
Vps50 T C 6: 3,536,884 (GRCm39) V285A probably benign Het
Vwa5b1 T A 4: 138,296,742 (GRCm39) D1095V probably benign Het
Zdhhc21 T A 4: 82,725,292 (GRCm39) D208V probably damaging Het
Zfp422 A C 6: 116,604,086 (GRCm39) 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
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
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'- TAAGGGCAATCCACCTCTGC -3'
(R):5'- GATAAAATACCAAGTGCCCCGG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- CGGAAGGCCAGGGACATTG -3'
Posted On 2021-12-30