Incidental Mutation 'R7831:Col6a3'
ID 605587
Institutional Source Beutler Lab
Gene Symbol Col6a3
Ensembl Gene ENSMUSG00000048126
Gene Name collagen, type VI, alpha 3
Synonyms Col6a-3
MMRRC Submission 045885-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7831 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 90694582-90771710 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 90724268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 2027 (C2027*)
Ref Sequence ENSEMBL: ENSMUSP00000057131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056925] [ENSMUST00000097653] [ENSMUST00000188587]
AlphaFold no structure available at present
PDB Structure Crystal structure of the Collagen VI alpha3 N5 domain [X-RAY DIFFRACTION]
Crystal structure of the Collagen VI alpha3 N5 domain R1061Q [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000056925
AA Change: C2027*
SMART Domains Protein: ENSMUSP00000057131
Gene: ENSMUSG00000048126
AA Change: C2027*

DomainStartEndE-ValueType
VWA 36 214 3.58e-42 SMART
VWA 239 415 3.34e-42 SMART
VWA 442 617 7.27e-43 SMART
VWA 636 813 7.8e-43 SMART
VWA 834 1010 4.21e-39 SMART
VWA 1024 1203 3.02e-40 SMART
VWA 1228 1406 1.1e-42 SMART
VWA 1431 1604 9.17e-40 SMART
VWA 1634 1807 1.78e-37 SMART
VWA 1833 2022 7.92e-3 SMART
Pfam:Collagen 2033 2094 2e-10 PFAM
Pfam:Collagen 2077 2142 2.8e-10 PFAM
low complexity region 2179 2222 N/A INTRINSIC
low complexity region 2228 2279 N/A INTRINSIC
Pfam:Collagen 2311 2373 7.9e-11 PFAM
VWA 2397 2576 3.95e-21 SMART
VWA 2614 2813 2.25e-25 SMART
low complexity region 2864 2880 N/A INTRINSIC
low complexity region 2886 2900 N/A INTRINSIC
low complexity region 2903 2941 N/A INTRINSIC
low complexity region 2945 3024 N/A INTRINSIC
low complexity region 3039 3076 N/A INTRINSIC
low complexity region 3091 3103 N/A INTRINSIC
FN3 3104 3183 4.6e-1 SMART
KU 3226 3279 4.34e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000097653
AA Change: C1420*
SMART Domains Protein: ENSMUSP00000137585
Gene: ENSMUSG00000048126
AA Change: C1420*

DomainStartEndE-ValueType
VWA 35 210 7.27e-43 SMART
VWA 227 403 4.21e-39 SMART
VWA 417 596 3.02e-40 SMART
VWA 621 799 1.1e-42 SMART
VWA 824 997 9.17e-40 SMART
VWA 1027 1200 1.78e-37 SMART
VWA 1226 1415 7.92e-3 SMART
Pfam:Collagen 1426 1486 9.2e-10 PFAM
Pfam:Collagen 1473 1539 2.2e-9 PFAM
low complexity region 1572 1615 N/A INTRINSIC
low complexity region 1621 1672 N/A INTRINSIC
low complexity region 1690 1704 N/A INTRINSIC
low complexity region 1713 1734 N/A INTRINSIC
VWA 1790 1969 3.95e-21 SMART
VWA 2007 2206 2.25e-25 SMART
low complexity region 2257 2273 N/A INTRINSIC
low complexity region 2279 2293 N/A INTRINSIC
low complexity region 2296 2334 N/A INTRINSIC
low complexity region 2338 2417 N/A INTRINSIC
low complexity region 2432 2469 N/A INTRINSIC
low complexity region 2484 2496 N/A INTRINSIC
FN3 2497 2576 4.6e-1 SMART
KU 2619 2672 4.34e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000188587
AA Change: C1420*
SMART Domains Protein: ENSMUSP00000140858
Gene: ENSMUSG00000048126
AA Change: C1420*

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
VWA 35 210 4.7e-45 SMART
VWA 227 403 2.7e-41 SMART
VWA 417 596 2e-42 SMART
VWA 621 799 7e-45 SMART
VWA 824 997 5.8e-42 SMART
VWA 1027 1200 1.1e-39 SMART
VWA 1226 1415 4.8e-5 SMART
Pfam:Collagen 1426 1486 3.8e-8 PFAM
Pfam:Collagen 1473 1539 9.1e-8 PFAM
low complexity region 1572 1615 N/A INTRINSIC
low complexity region 1621 1672 N/A INTRINSIC
low complexity region 1690 1704 N/A INTRINSIC
low complexity region 1713 1734 N/A INTRINSIC
VWA 1790 1969 2.4e-23 SMART
VWA 2007 2206 1.4e-27 SMART
low complexity region 2257 2273 N/A INTRINSIC
low complexity region 2279 2293 N/A INTRINSIC
low complexity region 2296 2334 N/A INTRINSIC
low complexity region 2338 2417 N/A INTRINSIC
low complexity region 2432 2469 N/A INTRINSIC
low complexity region 2484 2496 N/A INTRINSIC
FN3 2497 2576 2.2e-3 SMART
KU 2619 2672 2.1e-26 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (87/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,247,404 (GRCm39) V2384I possibly damaging Het
Acsl1 A G 8: 46,972,043 (GRCm39) D297G probably benign Het
Ap2a1 C A 7: 44,550,436 (GRCm39) R944L probably damaging Het
Apbb1ip A G 2: 22,756,933 (GRCm39) Y398C probably damaging Het
Atp8a2 A T 14: 60,011,202 (GRCm39) V968D probably damaging Het
Becn1 T C 11: 101,181,279 (GRCm39) T341A probably benign Het
Card11 G T 5: 140,859,167 (GRCm39) S1126R possibly damaging Het
Ccdc51 T C 9: 108,921,058 (GRCm39) L315S probably damaging Het
Cdk12 T C 11: 98,140,653 (GRCm39) L1298P unknown Het
Cep170b A T 12: 112,711,234 (GRCm39) D1538V probably benign Het
Cfap52 A T 11: 67,826,782 (GRCm39) F348I possibly damaging Het
Clip1 A T 5: 123,751,342 (GRCm39) M813K Het
Col19a1 G A 1: 24,565,563 (GRCm39) T256I unknown Het
Crisp4 A T 1: 18,199,013 (GRCm39) N140K probably benign Het
Crocc2 G T 1: 93,143,195 (GRCm39) A1266S probably benign Het
Cyfip2 G A 11: 46,087,273 (GRCm39) R1206C probably damaging Het
Cyp24a1 T A 2: 170,327,860 (GRCm39) M461L probably damaging Het
Cyp2a5 C T 7: 26,534,940 (GRCm39) T51I possibly damaging Het
Cyp2b19 C T 7: 26,466,565 (GRCm39) H398Y possibly damaging Het
Cyp4a29 G A 4: 115,107,367 (GRCm39) V234I probably benign Het
Dicer1 T G 12: 104,675,059 (GRCm39) K734N probably damaging Het
Dnai1 T C 4: 41,614,695 (GRCm39) probably null Het
Entpd3 G A 9: 120,373,025 (GRCm39) G14D probably damaging Het
Entrep3 G A 3: 89,091,520 (GRCm39) probably null Het
Ermp1 T C 19: 29,595,367 (GRCm39) T634A probably benign Het
Evc C T 5: 37,476,427 (GRCm39) G374D probably damaging Het
Fcgbp C A 7: 27,806,404 (GRCm39) T2124K probably damaging Het
Fgf8 G A 19: 45,730,876 (GRCm39) P50S probably benign Het
Fmnl1 C T 11: 103,088,999 (GRCm39) R1074W unknown Het
Galnt18 C T 7: 111,155,665 (GRCm39) V223M possibly damaging Het
Galnt2 A G 8: 125,058,817 (GRCm39) N295S probably benign Het
Grip1 T G 10: 119,854,011 (GRCm39) V600G probably damaging Het
Insm2 T A 12: 55,647,323 (GRCm39) C356S probably damaging Het
Itpr2 T A 6: 146,193,082 (GRCm39) I1672F probably benign Het
Kdm1b T G 13: 47,204,098 (GRCm39) N76K probably benign Het
Khnyn T A 14: 56,125,303 (GRCm39) probably null Het
Kidins220 C T 12: 25,111,230 (GRCm39) A1167V possibly damaging Het
Krt40 T C 11: 99,432,087 (GRCm39) D208G probably benign Het
Lars1 T A 18: 42,350,627 (GRCm39) D894V probably benign Het
Lmx1a A T 1: 167,668,521 (GRCm39) N266I probably benign Het
Mrgprb5 T A 7: 47,817,997 (GRCm39) K246M probably benign Het
Mrpl2 G A 17: 46,959,598 (GRCm39) G176R possibly damaging Het
Muc21 T A 17: 35,929,651 (GRCm39) T1512S unknown Het
Nell1 T A 7: 49,632,548 (GRCm39) F60L possibly damaging Het
Nnt G A 13: 119,506,630 (GRCm39) A453V possibly damaging Het
Opa1 A G 16: 29,467,755 (GRCm39) K940R probably benign Het
Opn5 A C 17: 42,891,510 (GRCm39) I309S probably null Het
Or1af1 C T 2: 37,109,723 (GRCm39) T74I probably damaging Het
Or1r1 A C 11: 73,875,257 (GRCm39) M59R probably damaging Het
Or2ag15 T A 7: 106,340,620 (GRCm39) I174F probably damaging Het
P3h3 T G 6: 124,832,118 (GRCm39) E256A possibly damaging Het
Pald1 G T 10: 61,191,593 (GRCm39) T65K probably damaging Het
Pcnx3 T C 19: 5,735,989 (GRCm39) Y279C probably damaging Het
Pik3c2b G A 1: 132,998,980 (GRCm39) S367N possibly damaging Het
Pik3cb T C 9: 98,970,666 (GRCm39) T342A probably benign Het
Pkd1l3 A T 8: 110,357,990 (GRCm39) E837D possibly damaging Het
Ppp2r2b T A 18: 42,834,597 (GRCm39) Y191F probably benign Het
Ppp4r4 G A 12: 103,557,080 (GRCm39) E439K possibly damaging Het
Ptprk A G 10: 28,444,404 (GRCm39) I946V possibly damaging Het
Ror1 A G 4: 100,298,295 (GRCm39) N556S probably benign Het
Ryr3 C T 2: 112,757,183 (GRCm39) A391T possibly damaging Het
Selp G A 1: 163,972,584 (GRCm39) probably null Het
Setx T C 2: 29,047,120 (GRCm39) L1866S probably damaging Het
Setx T A 2: 29,069,866 (GRCm39) V2557E possibly damaging Het
Slc66a3 T A 12: 17,047,632 (GRCm39) probably null Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Sorbs3 T G 14: 70,440,481 (GRCm39) N89T possibly damaging Het
Sorl1 C A 9: 42,001,257 (GRCm39) V248L probably benign Het
Srebf2 T A 15: 82,066,288 (GRCm39) V612E probably damaging Het
Sv2c T A 13: 96,113,200 (GRCm39) Y583F probably damaging Het
Tada1 G T 1: 166,217,442 (GRCm39) R193I probably damaging Het
Tnrc6b C G 15: 80,764,580 (GRCm39) A694G possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn C T 2: 76,711,425 (GRCm39) G8372D unknown Het
Ube2g2 A G 10: 77,470,576 (GRCm39) T68A Het
Ubl7 T G 9: 57,821,918 (GRCm39) V89G possibly damaging Het
Ush2a T A 1: 188,492,038 (GRCm39) I3109N probably damaging Het
Utp20 T A 10: 88,598,632 (GRCm39) K115* probably null Het
Vmn2r26 T A 6: 124,016,758 (GRCm39) Y407* probably null Het
Yod1 G T 1: 130,646,986 (GRCm39) V288F probably damaging Het
Zbed5 A C 5: 129,930,798 (GRCm39) N249T possibly damaging Het
Zbtb5 T C 4: 44,995,244 (GRCm39) T47A probably damaging Het
Zcchc14 T C 8: 122,331,984 (GRCm39) T460A not run Het
Zfp712 A C 13: 67,200,483 (GRCm39) probably null Het
Zfyve16 A T 13: 92,658,836 (GRCm39) H358Q probably benign Het
Other mutations in Col6a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Col6a3 APN 1 90,755,977 (GRCm39) missense probably damaging 1.00
IGL00425:Col6a3 APN 1 90,709,748 (GRCm39) missense unknown
IGL00541:Col6a3 APN 1 90,729,864 (GRCm39) missense possibly damaging 0.83
IGL01063:Col6a3 APN 1 90,730,054 (GRCm39) missense probably damaging 1.00
IGL01094:Col6a3 APN 1 90,731,655 (GRCm39) missense possibly damaging 0.93
IGL01138:Col6a3 APN 1 90,735,232 (GRCm39) missense probably damaging 1.00
IGL01291:Col6a3 APN 1 90,730,014 (GRCm39) missense probably damaging 1.00
IGL01674:Col6a3 APN 1 90,730,236 (GRCm39) missense probably damaging 1.00
IGL01756:Col6a3 APN 1 90,706,884 (GRCm39) missense unknown
IGL01827:Col6a3 APN 1 90,730,041 (GRCm39) missense probably damaging 1.00
IGL01845:Col6a3 APN 1 90,724,293 (GRCm39) missense probably damaging 1.00
IGL01869:Col6a3 APN 1 90,700,770 (GRCm39) missense unknown
IGL01900:Col6a3 APN 1 90,722,732 (GRCm39) critical splice donor site probably null
IGL01925:Col6a3 APN 1 90,729,958 (GRCm39) missense possibly damaging 0.95
IGL02002:Col6a3 APN 1 90,709,858 (GRCm39) splice site probably benign
IGL02115:Col6a3 APN 1 90,735,373 (GRCm39) missense probably damaging 0.99
IGL02302:Col6a3 APN 1 90,709,482 (GRCm39) missense unknown
IGL02313:Col6a3 APN 1 90,739,328 (GRCm39) missense probably damaging 1.00
IGL02458:Col6a3 APN 1 90,706,919 (GRCm39) missense unknown
IGL02821:Col6a3 APN 1 90,731,600 (GRCm39) missense probably damaging 1.00
IGL02828:Col6a3 APN 1 90,724,281 (GRCm39) missense probably damaging 1.00
IGL03112:Col6a3 APN 1 90,739,242 (GRCm39) nonsense probably null
IGL03129:Col6a3 APN 1 90,749,584 (GRCm39) missense probably damaging 1.00
IGL03132:Col6a3 APN 1 90,731,615 (GRCm39) missense probably damaging 1.00
IGL03148:Col6a3 APN 1 90,755,588 (GRCm39) missense probably benign 0.33
IGL03251:Col6a3 APN 1 90,737,898 (GRCm39) missense probably damaging 1.00
bailey UTSW 1 90,695,328 (GRCm39) critical splice acceptor site probably benign
barnum UTSW 1 90,706,874 (GRCm39) missense unknown
Boneless UTSW 1 90,706,781 (GRCm39) missense unknown
Noodloid UTSW 1 90,707,011 (GRCm39) missense unknown
randolf UTSW 1 90,715,673 (GRCm39) missense unknown
stringy UTSW 1 90,731,400 (GRCm39) nonsense probably null
wonder UTSW 1 90,719,645 (GRCm39) critical splice donor site probably null
ANU05:Col6a3 UTSW 1 90,730,014 (GRCm39) missense probably damaging 1.00
IGL03048:Col6a3 UTSW 1 90,737,970 (GRCm39) missense possibly damaging 0.58
PIT4810001:Col6a3 UTSW 1 90,706,516 (GRCm39) missense unknown
R0020:Col6a3 UTSW 1 90,739,272 (GRCm39) missense probably damaging 0.99
R0020:Col6a3 UTSW 1 90,739,272 (GRCm39) missense probably damaging 0.99
R0033:Col6a3 UTSW 1 90,729,967 (GRCm39) missense probably damaging 1.00
R0033:Col6a3 UTSW 1 90,729,967 (GRCm39) missense probably damaging 1.00
R0105:Col6a3 UTSW 1 90,725,883 (GRCm39) missense possibly damaging 0.65
R0116:Col6a3 UTSW 1 90,741,273 (GRCm39) missense probably damaging 1.00
R0167:Col6a3 UTSW 1 90,725,895 (GRCm39) missense probably damaging 1.00
R0319:Col6a3 UTSW 1 90,735,426 (GRCm39) missense possibly damaging 0.95
R0348:Col6a3 UTSW 1 90,755,771 (GRCm39) missense probably damaging 1.00
R0365:Col6a3 UTSW 1 90,715,938 (GRCm39) missense unknown
R0512:Col6a3 UTSW 1 90,749,520 (GRCm39) intron probably benign
R0564:Col6a3 UTSW 1 90,735,456 (GRCm39) missense probably damaging 1.00
R0635:Col6a3 UTSW 1 90,735,808 (GRCm39) splice site probably null
R0667:Col6a3 UTSW 1 90,755,823 (GRCm39) missense probably damaging 0.98
R0680:Col6a3 UTSW 1 90,706,703 (GRCm39) missense unknown
R0736:Col6a3 UTSW 1 90,731,811 (GRCm39) missense possibly damaging 0.95
R0737:Col6a3 UTSW 1 90,756,020 (GRCm39) missense probably damaging 1.00
R0747:Col6a3 UTSW 1 90,730,375 (GRCm39) missense probably damaging 1.00
R1155:Col6a3 UTSW 1 90,722,047 (GRCm39) missense probably null 1.00
R1169:Col6a3 UTSW 1 90,749,736 (GRCm39) missense possibly damaging 0.67
R1180:Col6a3 UTSW 1 90,709,577 (GRCm39) missense unknown
R1225:Col6a3 UTSW 1 90,739,238 (GRCm39) missense probably damaging 1.00
R1343:Col6a3 UTSW 1 90,696,069 (GRCm39) missense unknown
R1387:Col6a3 UTSW 1 90,750,138 (GRCm39) intron probably benign
R1437:Col6a3 UTSW 1 90,729,098 (GRCm39) missense probably damaging 1.00
R1448:Col6a3 UTSW 1 90,709,577 (GRCm39) missense unknown
R1677:Col6a3 UTSW 1 90,749,583 (GRCm39) missense probably benign 0.14
R1681:Col6a3 UTSW 1 90,701,224 (GRCm39) missense unknown
R1711:Col6a3 UTSW 1 90,757,935 (GRCm39) missense probably damaging 1.00
R1727:Col6a3 UTSW 1 90,724,296 (GRCm39) critical splice acceptor site probably null
R1736:Col6a3 UTSW 1 90,706,781 (GRCm39) missense unknown
R1738:Col6a3 UTSW 1 90,744,083 (GRCm39) missense probably damaging 1.00
R1742:Col6a3 UTSW 1 90,741,516 (GRCm39) missense probably damaging 1.00
R1809:Col6a3 UTSW 1 90,755,671 (GRCm39) missense probably damaging 1.00
R1851:Col6a3 UTSW 1 90,735,256 (GRCm39) missense possibly damaging 0.69
R1852:Col6a3 UTSW 1 90,735,256 (GRCm39) missense possibly damaging 0.69
R1872:Col6a3 UTSW 1 90,757,936 (GRCm39) missense probably damaging 0.96
R1889:Col6a3 UTSW 1 90,731,433 (GRCm39) missense probably benign 0.00
R1895:Col6a3 UTSW 1 90,731,433 (GRCm39) missense probably benign 0.00
R1908:Col6a3 UTSW 1 90,739,421 (GRCm39) missense probably damaging 1.00
R1919:Col6a3 UTSW 1 90,750,081 (GRCm39) missense possibly damaging 0.66
R1973:Col6a3 UTSW 1 90,731,897 (GRCm39) missense probably damaging 1.00
R2083:Col6a3 UTSW 1 90,709,733 (GRCm39) missense unknown
R2121:Col6a3 UTSW 1 90,738,087 (GRCm39) missense probably damaging 1.00
R2197:Col6a3 UTSW 1 90,731,467 (GRCm39) missense probably benign 0.09
R2448:Col6a3 UTSW 1 90,741,080 (GRCm39) missense probably damaging 1.00
R2831:Col6a3 UTSW 1 90,731,435 (GRCm39) missense possibly damaging 0.89
R2877:Col6a3 UTSW 1 90,703,321 (GRCm39) missense unknown
R3052:Col6a3 UTSW 1 90,729,852 (GRCm39) missense possibly damaging 0.71
R3104:Col6a3 UTSW 1 90,744,024 (GRCm39) missense probably damaging 0.99
R3105:Col6a3 UTSW 1 90,744,024 (GRCm39) missense probably damaging 0.99
R3106:Col6a3 UTSW 1 90,744,024 (GRCm39) missense probably damaging 0.99
R3418:Col6a3 UTSW 1 90,731,813 (GRCm39) missense probably benign 0.42
R3419:Col6a3 UTSW 1 90,731,813 (GRCm39) missense probably benign 0.42
R3837:Col6a3 UTSW 1 90,707,803 (GRCm39) missense unknown
R4007:Col6a3 UTSW 1 90,730,291 (GRCm39) missense probably damaging 1.00
R4082:Col6a3 UTSW 1 90,749,605 (GRCm39) missense probably damaging 1.00
R4181:Col6a3 UTSW 1 90,735,336 (GRCm39) missense probably damaging 1.00
R4200:Col6a3 UTSW 1 90,729,105 (GRCm39) missense probably benign 0.28
R4244:Col6a3 UTSW 1 90,714,361 (GRCm39) missense unknown
R4297:Col6a3 UTSW 1 90,739,100 (GRCm39) missense probably damaging 1.00
R4302:Col6a3 UTSW 1 90,735,336 (GRCm39) missense probably damaging 1.00
R4472:Col6a3 UTSW 1 90,749,736 (GRCm39) missense probably benign 0.23
R4600:Col6a3 UTSW 1 90,709,626 (GRCm39) missense unknown
R4683:Col6a3 UTSW 1 90,701,179 (GRCm39) missense unknown
R4788:Col6a3 UTSW 1 90,700,672 (GRCm39) critical splice donor site probably null
R4851:Col6a3 UTSW 1 90,707,011 (GRCm39) missense unknown
R4899:Col6a3 UTSW 1 90,730,149 (GRCm39) missense probably damaging 0.99
R4904:Col6a3 UTSW 1 90,729,164 (GRCm39) missense probably damaging 1.00
R4908:Col6a3 UTSW 1 90,735,246 (GRCm39) missense probably damaging 1.00
R4960:Col6a3 UTSW 1 90,731,940 (GRCm39) missense probably damaging 1.00
R4981:Col6a3 UTSW 1 90,706,565 (GRCm39) missense unknown
R5057:Col6a3 UTSW 1 90,743,852 (GRCm39) missense possibly damaging 0.91
R5062:Col6a3 UTSW 1 90,707,074 (GRCm39) missense unknown
R5105:Col6a3 UTSW 1 90,725,862 (GRCm39) missense possibly damaging 0.81
R5127:Col6a3 UTSW 1 90,696,067 (GRCm39) missense unknown
R5166:Col6a3 UTSW 1 90,738,330 (GRCm39) missense probably damaging 1.00
R5168:Col6a3 UTSW 1 90,701,361 (GRCm39) nonsense probably null
R5196:Col6a3 UTSW 1 90,744,260 (GRCm39) splice site probably null
R5230:Col6a3 UTSW 1 90,716,776 (GRCm39) missense unknown
R5268:Col6a3 UTSW 1 90,712,965 (GRCm39) missense unknown
R5381:Col6a3 UTSW 1 90,703,334 (GRCm39) missense unknown
R5392:Col6a3 UTSW 1 90,729,017 (GRCm39) missense probably benign 0.41
R5445:Col6a3 UTSW 1 90,709,761 (GRCm39) nonsense probably null
R5571:Col6a3 UTSW 1 90,715,938 (GRCm39) missense unknown
R5665:Col6a3 UTSW 1 90,755,602 (GRCm39) missense probably benign 0.00
R5902:Col6a3 UTSW 1 90,729,921 (GRCm39) splice site probably null
R5914:Col6a3 UTSW 1 90,703,922 (GRCm39) missense unknown
R5955:Col6a3 UTSW 1 90,739,163 (GRCm39) missense probably damaging 1.00
R5977:Col6a3 UTSW 1 90,749,571 (GRCm39) missense possibly damaging 0.82
R6006:Col6a3 UTSW 1 90,696,105 (GRCm39) missense unknown
R6010:Col6a3 UTSW 1 90,701,219 (GRCm39) missense unknown
R6025:Col6a3 UTSW 1 90,755,824 (GRCm39) missense probably damaging 1.00
R6151:Col6a3 UTSW 1 90,741,475 (GRCm39) missense possibly damaging 0.53
R6154:Col6a3 UTSW 1 90,701,387 (GRCm39) missense unknown
R6181:Col6a3 UTSW 1 90,744,096 (GRCm39) missense possibly damaging 0.95
R6197:Col6a3 UTSW 1 90,750,063 (GRCm39) missense probably damaging 1.00
R6332:Col6a3 UTSW 1 90,749,955 (GRCm39) missense probably damaging 1.00
R6362:Col6a3 UTSW 1 90,738,285 (GRCm39) missense probably damaging 0.99
R6476:Col6a3 UTSW 1 90,709,534 (GRCm39) missense unknown
R6484:Col6a3 UTSW 1 90,719,645 (GRCm39) critical splice donor site probably null
R6701:Col6a3 UTSW 1 90,720,184 (GRCm39) missense probably benign 0.14
R6702:Col6a3 UTSW 1 90,707,161 (GRCm39) missense unknown
R6703:Col6a3 UTSW 1 90,720,184 (GRCm39) missense probably benign 0.14
R6703:Col6a3 UTSW 1 90,707,161 (GRCm39) missense unknown
R6724:Col6a3 UTSW 1 90,706,874 (GRCm39) missense unknown
R6746:Col6a3 UTSW 1 90,706,767 (GRCm39) missense unknown
R6797:Col6a3 UTSW 1 90,731,810 (GRCm39) missense probably damaging 0.99
R6798:Col6a3 UTSW 1 90,722,731 (GRCm39) splice site probably null
R6903:Col6a3 UTSW 1 90,721,929 (GRCm39) missense probably damaging 1.00
R6925:Col6a3 UTSW 1 90,743,724 (GRCm39) missense probably benign 0.00
R6978:Col6a3 UTSW 1 90,735,192 (GRCm39) critical splice donor site probably null
R7058:Col6a3 UTSW 1 90,755,759 (GRCm39) nonsense probably null
R7182:Col6a3 UTSW 1 90,731,400 (GRCm39) nonsense probably null
R7294:Col6a3 UTSW 1 90,756,005 (GRCm39) missense probably damaging 1.00
R7296:Col6a3 UTSW 1 90,755,708 (GRCm39) missense probably benign 0.00
R7311:Col6a3 UTSW 1 90,750,013 (GRCm39) missense probably damaging 1.00
R7412:Col6a3 UTSW 1 90,755,855 (GRCm39) missense probably damaging 0.98
R7561:Col6a3 UTSW 1 90,703,463 (GRCm39) missense unknown
R7575:Col6a3 UTSW 1 90,738,321 (GRCm39) missense possibly damaging 0.92
R7659:Col6a3 UTSW 1 90,709,467 (GRCm39) missense unknown
R7679:Col6a3 UTSW 1 90,739,473 (GRCm39) missense possibly damaging 0.49
R7855:Col6a3 UTSW 1 90,738,343 (GRCm39) missense possibly damaging 0.57
R7990:Col6a3 UTSW 1 90,709,577 (GRCm39) missense unknown
R8003:Col6a3 UTSW 1 90,703,455 (GRCm39) missense unknown
R8007:Col6a3 UTSW 1 90,705,179 (GRCm39) missense unknown
R8098:Col6a3 UTSW 1 90,731,383 (GRCm39) missense probably benign
R8312:Col6a3 UTSW 1 90,741,412 (GRCm39) missense possibly damaging 0.55
R8419:Col6a3 UTSW 1 90,729,935 (GRCm39) missense probably damaging 1.00
R8723:Col6a3 UTSW 1 90,695,328 (GRCm39) critical splice acceptor site probably benign
R8725:Col6a3 UTSW 1 90,695,328 (GRCm39) critical splice acceptor site probably benign
R8737:Col6a3 UTSW 1 90,727,747 (GRCm39) missense probably benign 0.10
R8742:Col6a3 UTSW 1 90,695,328 (GRCm39) critical splice acceptor site probably benign
R8743:Col6a3 UTSW 1 90,695,328 (GRCm39) critical splice acceptor site probably benign
R8744:Col6a3 UTSW 1 90,695,328 (GRCm39) critical splice acceptor site probably benign
R8753:Col6a3 UTSW 1 90,695,328 (GRCm39) critical splice acceptor site probably benign
R8754:Col6a3 UTSW 1 90,695,328 (GRCm39) critical splice acceptor site probably benign
R8773:Col6a3 UTSW 1 90,696,171 (GRCm39) missense unknown
R8857:Col6a3 UTSW 1 90,703,485 (GRCm39) missense unknown
R8867:Col6a3 UTSW 1 90,715,673 (GRCm39) missense unknown
R8887:Col6a3 UTSW 1 90,755,948 (GRCm39) missense probably benign
R9011:Col6a3 UTSW 1 90,710,057 (GRCm39) splice site probably benign
R9049:Col6a3 UTSW 1 90,707,066 (GRCm39) missense unknown
R9142:Col6a3 UTSW 1 90,706,566 (GRCm39) missense unknown
R9155:Col6a3 UTSW 1 90,738,301 (GRCm39) missense probably benign 0.27
R9249:Col6a3 UTSW 1 90,707,020 (GRCm39) missense unknown
R9258:Col6a3 UTSW 1 90,700,703 (GRCm39) missense unknown
R9274:Col6a3 UTSW 1 90,707,020 (GRCm39) missense unknown
R9276:Col6a3 UTSW 1 90,735,403 (GRCm39) missense possibly damaging 0.94
R9315:Col6a3 UTSW 1 90,738,979 (GRCm39) critical splice donor site probably null
R9376:Col6a3 UTSW 1 90,709,523 (GRCm39) missense unknown
R9377:Col6a3 UTSW 1 90,743,961 (GRCm39) missense probably damaging 1.00
R9429:Col6a3 UTSW 1 90,731,585 (GRCm39) missense probably benign 0.01
R9439:Col6a3 UTSW 1 90,744,155 (GRCm39) missense probably damaging 1.00
R9440:Col6a3 UTSW 1 90,707,068 (GRCm39) missense unknown
R9441:Col6a3 UTSW 1 90,705,249 (GRCm39) nonsense probably null
R9477:Col6a3 UTSW 1 90,706,621 (GRCm39) missense unknown
R9498:Col6a3 UTSW 1 90,713,650 (GRCm39) nonsense probably null
R9528:Col6a3 UTSW 1 90,731,789 (GRCm39) missense probably damaging 1.00
R9602:Col6a3 UTSW 1 90,731,497 (GRCm39) missense probably benign 0.07
RF005:Col6a3 UTSW 1 90,738,984 (GRCm39) missense probably benign 0.00
RF012:Col6a3 UTSW 1 90,738,282 (GRCm39) missense probably damaging 1.00
X0024:Col6a3 UTSW 1 90,731,359 (GRCm39) critical splice donor site probably null
X0063:Col6a3 UTSW 1 90,731,627 (GRCm39) missense probably damaging 1.00
X0067:Col6a3 UTSW 1 90,739,251 (GRCm39) missense probably damaging 1.00
Z1177:Col6a3 UTSW 1 90,739,450 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GCAGGTCATCTCTATCACCAG -3'
(R):5'- CTATGGGAAGAGCTGAGTCCTC -3'

Sequencing Primer
(F):5'- TACCTTGGAGCCCAGAATTG -3'
(R):5'- TGAGTCCTCAGCTGTACCTGG -3'
Posted On 2019-12-20