Incidental Mutation 'R6882:Col6a5'
ID 536731
Institutional Source Beutler Lab
Gene Symbol Col6a5
Ensembl Gene ENSMUSG00000091345
Gene Name collagen, type VI, alpha 5
Synonyms Gm7455, Col6a5
MMRRC Submission 044977-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.846) question?
Stock # R6882 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 105733277-105837842 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 105817469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 281 (Q281*)
Ref Sequence ENSEMBL: ENSMUSP00000139398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165165] [ENSMUST00000190193]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000165165
AA Change: Q281*
SMART Domains Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: Q281*

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 null
Transcript: ENSMUST00000190193
AA Change: Q281*
SMART Domains Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: Q281*

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: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 A G 12: 71,003,125 (GRCm39) E238G probably benign Het
Adgrf5 T A 17: 43,761,271 (GRCm39) C989S probably damaging Het
Ank2 T G 3: 126,739,406 (GRCm39) probably benign Het
C2cd6 T C 1: 59,105,318 (GRCm39) D320G probably damaging Het
Cacnb2 T A 2: 14,829,110 (GRCm39) I15N probably benign Het
Cage1 T A 13: 38,206,534 (GRCm39) Q437L probably damaging Het
Capn15 G T 17: 26,179,153 (GRCm39) probably null Het
Cbll1 A G 12: 31,537,484 (GRCm39) Y424H probably damaging Het
Ccdc166 T C 15: 75,853,466 (GRCm39) H167R possibly damaging Het
Ccdc7a T C 8: 129,523,809 (GRCm39) probably benign Het
Cdkl4 T A 17: 80,851,175 (GRCm39) T176S probably damaging Het
Cnot1 T C 8: 96,447,054 (GRCm39) E2321G possibly damaging Het
Csmd2 A G 4: 128,343,062 (GRCm39) T1485A probably benign Het
Dmxl1 A G 18: 49,976,851 (GRCm39) probably null Het
Dnah3 A G 7: 119,570,407 (GRCm39) I2271T possibly damaging Het
Elavl2 A G 4: 91,196,952 (GRCm39) I42T probably damaging Het
Epn3 C T 11: 94,382,186 (GRCm39) A568T probably benign Het
Etv3 T C 3: 87,436,577 (GRCm39) F111L probably damaging Het
Fnip1 A G 11: 54,400,724 (GRCm39) E1041G probably damaging Het
Fosl2 T C 5: 32,310,208 (GRCm39) V219A possibly damaging Het
Foxj2 T A 6: 122,805,464 (GRCm39) probably null Het
Gm8947 G A 1: 151,068,880 (GRCm39) A238T possibly damaging Het
Golgb1 C A 16: 36,734,352 (GRCm39) Q1200K probably benign Het
Igkv4-55 A G 6: 69,584,289 (GRCm39) Y108H probably damaging Het
Iglc1 G A 16: 18,880,599 (GRCm39) probably benign Het
Ints13 G T 6: 146,464,939 (GRCm39) R221S probably null Het
Ipo11 T C 13: 107,037,190 (GRCm39) probably null Het
Kcnn2 A T 18: 45,692,505 (GRCm39) H27L possibly damaging Het
Kcns3 C T 12: 11,142,049 (GRCm39) V217M probably benign Het
Klra9 A T 6: 130,155,985 (GRCm39) C257S probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lmbr1l A G 15: 98,805,467 (GRCm39) F345L probably damaging Het
Lrrc18 A C 14: 32,730,646 (GRCm39) I62L probably benign Het
Mr1 A G 1: 155,008,199 (GRCm39) W259R possibly damaging Het
Myo15a G A 11: 60,414,832 (GRCm39) R3325H probably damaging Het
Nid2 A G 14: 19,839,775 (GRCm39) D788G probably damaging Het
Or2y1c A T 11: 49,361,290 (GRCm39) Y104F probably benign Het
Or5an10 C A 19: 12,275,934 (GRCm39) Q187H probably damaging Het
Or5h24 A T 16: 58,918,990 (GRCm39) C122S unknown Het
Or6d12 T C 6: 116,493,395 (GRCm39) V219A probably benign Het
Pbld1 T C 10: 62,897,241 (GRCm39) L11P probably benign Het
Pcnt T C 10: 76,263,662 (GRCm39) E434G probably benign Het
Prg4 G A 1: 150,329,246 (GRCm39) T174M probably damaging Het
Prkdc G A 16: 15,601,127 (GRCm39) probably null Het
Prkdc T A 16: 15,626,020 (GRCm39) S3349T probably benign Het
Prpf38a C A 4: 108,427,365 (GRCm39) E199D probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Rhbg T A 3: 88,152,527 (GRCm39) H339L probably damaging Het
Rnf183 A G 4: 62,346,261 (GRCm39) I179T probably benign Het
Sh3bp5l G T 11: 58,222,525 (GRCm39) A7S probably benign Het
Slc12a3 T A 8: 95,092,546 (GRCm39) I989N possibly damaging Het
Sycp3 C T 10: 88,308,791 (GRCm39) R246* probably null Het
Tmprss11b T A 5: 86,819,530 (GRCm39) probably null Het
Tmx4 T C 2: 134,485,922 (GRCm39) T2A possibly damaging Het
Tnfsf10 T C 3: 27,380,182 (GRCm39) L82S possibly damaging Het
Tnni3k T A 3: 154,663,357 (GRCm39) I332F possibly damaging Het
Ttn T A 2: 76,644,539 (GRCm39) T13072S probably benign Het
Vmn2r1 A T 3: 63,997,529 (GRCm39) Y395F possibly damaging Het
Zbbx A G 3: 74,979,019 (GRCm39) V476A probably benign Het
Zfp341 T C 2: 154,479,943 (GRCm39) C465R probably damaging Het
Zfp398 A G 6: 47,843,016 (GRCm39) D224G probably damaging Het
Zfp407 G T 18: 84,361,194 (GRCm39) probably null Het
Zfp52 T C 17: 21,775,309 (GRCm39) M1T probably null 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
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'- AACATTAGATGCCCCAGTCTG -3'
(R):5'- GGAAGCAATTCAGACTGGGTC -3'

Sequencing Primer
(F):5'- CATTAGATGCCCCAGTCTGGAGAG -3'
(R):5'- AGACTGGGTCTGTGGTAACCC -3'
Posted On 2018-10-18