Incidental Mutation 'R4951:Col6a6'
ID 444537
Institutional Source Beutler Lab
Gene Symbol Col6a6
Ensembl Gene ENSMUSG00000043719
Gene Name collagen, type VI, alpha 6
Synonyms E330026B02Rik
MMRRC Submission 042548-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R4951 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 105566616-105705413 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 105644397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098441] [ENSMUST00000166431]
AlphaFold Q8C6K9
Predicted Effect probably null
Transcript: ENSMUST00000098441
SMART Domains Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
VWA 24 197 4.26e-26 SMART
VWA 226 407 1.06e-30 SMART
VWA 433 610 5.19e-39 SMART
VWA 619 795 3.58e-42 SMART
VWA 806 982 6.64e-37 SMART
VWA 997 1175 2.7e-37 SMART
VWA 1184 1370 3.45e-1 SMART
Pfam:Collagen 1389 1450 3.3e-9 PFAM
low complexity region 1451 1475 N/A INTRINSIC
low complexity region 1490 1508 N/A INTRINSIC
low complexity region 1602 1623 N/A INTRINSIC
low complexity region 1698 1724 N/A INTRINSIC
VWA 1754 1937 1.73e-17 SMART
VWA 1962 2145 4.4e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000166431
SMART Domains Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
VWA 24 197 4.26e-26 SMART
VWA 226 407 1.06e-30 SMART
VWA 433 610 5.19e-39 SMART
VWA 619 795 3.58e-42 SMART
VWA 806 982 6.64e-37 SMART
VWA 997 1175 2.7e-37 SMART
VWA 1184 1370 3.45e-1 SMART
Pfam:Collagen 1389 1450 9.3e-10 PFAM
low complexity region 1451 1475 N/A INTRINSIC
low complexity region 1490 1508 N/A INTRINSIC
low complexity region 1602 1623 N/A INTRINSIC
low complexity region 1698 1724 N/A INTRINSIC
VWA 1754 1937 1.73e-17 SMART
VWA 1962 2145 4.4e-19 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 98% (94/96)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,088,336 (GRCm39) E452K possibly damaging Het
Adcy10 T C 1: 165,391,532 (GRCm39) L1263P probably damaging Het
Adgrg1 G A 8: 95,731,874 (GRCm39) V179M probably damaging Het
Agap1 T A 1: 89,537,225 (GRCm39) V77E probably damaging Het
Ahnak A T 19: 8,995,199 (GRCm39) K5494N probably damaging Het
Arhgap19 A G 19: 41,762,545 (GRCm39) M437T probably benign Het
C2cd4c C A 10: 79,448,839 (GRCm39) A103S possibly damaging Het
Clip1 A T 5: 123,768,408 (GRCm39) D776E probably benign Het
Cntn3 C T 6: 102,145,986 (GRCm39) V952M possibly damaging Het
Crtac1 C T 19: 42,402,570 (GRCm39) A13T probably benign Het
Ddx50 C T 10: 62,469,899 (GRCm39) A363T probably damaging Het
Dock9 A G 14: 121,890,547 (GRCm39) V241A probably benign Het
Dysf T C 6: 84,091,102 (GRCm39) probably null Het
Enpp3 A T 10: 24,674,175 (GRCm39) M375K probably damaging Het
Fam13c G A 10: 70,387,621 (GRCm39) probably null Het
Ftcd C T 10: 76,420,517 (GRCm39) A417V probably benign Het
Gak A G 5: 108,730,584 (GRCm39) S941P probably benign Het
Ganc A G 2: 120,286,528 (GRCm39) T786A probably benign Het
Gfi1 A C 5: 107,868,009 (GRCm39) S420A probably damaging Het
Ghsr A T 3: 27,426,510 (GRCm39) T189S possibly damaging Het
Glb1l C T 1: 75,185,019 (GRCm39) G122D probably damaging Het
Gm10065 C T 13: 21,663,421 (GRCm39) S64N unknown Het
Gm5087 C A 14: 13,158,749 (GRCm38) noncoding transcript Het
Gm973 G A 1: 59,580,633 (GRCm39) probably null Het
Gm9930 A T 10: 9,410,449 (GRCm39) noncoding transcript Het
H6pd A T 4: 150,066,044 (GRCm39) Y781N probably damaging Het
Ide G A 19: 37,262,631 (GRCm39) L695F unknown Het
Il17re T A 6: 113,445,868 (GRCm39) V393E probably damaging Het
Lipo3 A G 19: 33,759,621 (GRCm39) V205A probably benign Het
Lipo5 C T 19: 33,446,251 (GRCm39) E49K probably damaging Het
Lonp1 A T 17: 56,927,335 (GRCm39) M306K possibly damaging Het
Lrig1 A G 6: 94,640,959 (GRCm39) L82P probably damaging Het
Lrp2 A T 2: 69,366,332 (GRCm39) C256S probably damaging Het
Map1b A T 13: 99,568,935 (GRCm39) I1262K unknown Het
Mctp1 C T 13: 76,975,894 (GRCm39) P756S probably damaging Het
Mdn1 T A 4: 32,707,459 (GRCm39) W1583R probably damaging Het
Mis12 T A 11: 70,916,473 (GRCm39) Y169N probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Msh5 G A 17: 35,257,396 (GRCm39) Q333* probably null Het
Necap2 A T 4: 140,799,834 (GRCm39) probably null Het
Nfatc2 T C 2: 168,412,992 (GRCm39) D211G probably damaging Het
Nlrx1 A G 9: 44,164,726 (GRCm39) V906A possibly damaging Het
Or2ak7 G A 11: 58,575,589 (GRCm39) V297I probably damaging Het
Or4a2 T A 2: 89,248,116 (GRCm39) I214F probably benign Het
Or4l1 A T 14: 50,166,515 (GRCm39) L162* probably null Het
Or5b125-ps1 A T 19: 13,056,620 (GRCm39) noncoding transcript Het
Or8g24 A G 9: 38,989,555 (GRCm39) F162S probably benign Het
Pate5 A G 9: 35,750,732 (GRCm39) V30A probably damaging Het
Pkhd1l1 T A 15: 44,397,287 (GRCm39) N2057K possibly damaging Het
Ppip5k2 T C 1: 97,639,474 (GRCm39) K1078R possibly damaging Het
Prdm11 A G 2: 92,810,954 (GRCm39) I215T probably damaging Het
Ptpn13 C T 5: 103,735,912 (GRCm39) P2137L probably benign Het
Rif1 T A 2: 51,974,998 (GRCm39) probably null Het
Rnf17 T C 14: 56,759,848 (GRCm39) V1551A probably benign Het
Ror2 C T 13: 53,271,183 (GRCm39) V391I probably benign Het
Rps6ka2 A T 17: 7,560,188 (GRCm39) D542V probably damaging Het
Sema4g A G 19: 44,985,010 (GRCm39) probably null Het
Serpinb6d T G 13: 33,850,366 (GRCm39) S64R probably benign Het
Serpine1 C T 5: 137,098,205 (GRCm39) R156K probably benign Het
Setdb2 A G 14: 59,639,752 (GRCm39) I713T possibly damaging Het
Slamf7 A G 1: 171,466,693 (GRCm39) F171L probably benign Het
Slc15a5 A G 6: 138,050,064 (GRCm39) L117S probably damaging Het
Slc8a3 T A 12: 81,362,760 (GRCm39) T20S probably damaging Het
Slc8a3 T A 12: 81,361,473 (GRCm39) T449S probably benign Het
Smc2 G A 4: 52,462,926 (GRCm39) V639M possibly damaging Het
Sra1 A T 18: 36,809,494 (GRCm39) C223* probably null Het
Srgap1 A T 10: 121,621,457 (GRCm39) M1012K probably benign Het
Stk-ps2 A T 1: 46,068,602 (GRCm39) noncoding transcript Het
Taar6 A T 10: 23,861,106 (GRCm39) S147T probably benign Het
Taf15 G A 11: 83,375,637 (GRCm39) G34D possibly damaging Het
Tarbp1 T C 8: 127,174,184 (GRCm39) E874G possibly damaging Het
Tob2 T C 15: 81,735,924 (GRCm39) Y15C probably damaging Het
Trim12a A G 7: 103,953,565 (GRCm39) V182A possibly damaging Het
Trim67 A G 8: 125,521,406 (GRCm39) E256G probably benign Het
Trrap T A 5: 144,742,530 (GRCm39) S1382T possibly damaging Het
Ttc39d T A 17: 80,523,462 (GRCm39) S40R probably benign Het
Ttn A T 2: 76,779,406 (GRCm39) V1158E probably benign Het
Vmn1r19 C T 6: 57,381,927 (GRCm39) T160I probably benign Het
Vmn2r100 T C 17: 19,752,300 (GRCm39) I781T probably benign Het
Vmn2r85 T C 10: 130,261,113 (GRCm39) E408G probably damaging Het
Vwde T C 6: 13,187,138 (GRCm39) D783G probably damaging Het
Wdr27 A T 17: 15,096,395 (GRCm39) D796E probably damaging Het
Zfp365 C T 10: 67,725,821 (GRCm39) probably null Het
Zfp9 T G 6: 118,441,408 (GRCm39) H418P probably damaging Het
Other mutations in Col6a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Col6a6 APN 9 105,635,390 (GRCm39) critical splice acceptor site probably null
IGL00768:Col6a6 APN 9 105,659,611 (GRCm39) missense probably benign 0.04
IGL00917:Col6a6 APN 9 105,661,453 (GRCm39) splice site probably benign
IGL01385:Col6a6 APN 9 105,660,865 (GRCm39) missense probably damaging 1.00
IGL01411:Col6a6 APN 9 105,663,157 (GRCm39) nonsense probably null
IGL01508:Col6a6 APN 9 105,604,365 (GRCm39) splice site probably benign
IGL01668:Col6a6 APN 9 105,586,470 (GRCm39) missense probably damaging 1.00
IGL01733:Col6a6 APN 9 105,586,454 (GRCm39) missense possibly damaging 0.92
IGL01932:Col6a6 APN 9 105,566,825 (GRCm39) missense probably benign 0.02
IGL01934:Col6a6 APN 9 105,575,858 (GRCm39) critical splice donor site probably null
IGL01944:Col6a6 APN 9 105,661,108 (GRCm39) missense probably damaging 1.00
IGL01980:Col6a6 APN 9 105,658,184 (GRCm39) missense probably damaging 0.96
IGL02114:Col6a6 APN 9 105,644,398 (GRCm39) critical splice donor site probably null
IGL02129:Col6a6 APN 9 105,613,539 (GRCm39) splice site probably benign
IGL02201:Col6a6 APN 9 105,658,194 (GRCm39) missense probably damaging 1.00
IGL02335:Col6a6 APN 9 105,661,300 (GRCm39) missense probably damaging 1.00
IGL02541:Col6a6 APN 9 105,609,415 (GRCm39) missense probably benign 0.05
IGL02574:Col6a6 APN 9 105,659,390 (GRCm39) missense probably damaging 1.00
IGL02649:Col6a6 APN 9 105,604,369 (GRCm39) critical splice donor site probably null
IGL02852:Col6a6 APN 9 105,661,272 (GRCm39) missense probably damaging 0.99
IGL03278:Col6a6 APN 9 105,586,651 (GRCm39) missense probably benign 0.01
IGL03327:Col6a6 APN 9 105,644,433 (GRCm39) missense possibly damaging 0.90
PIT4519001:Col6a6 UTSW 9 105,609,462 (GRCm39) missense probably benign 0.23
R0042:Col6a6 UTSW 9 105,657,896 (GRCm39) missense possibly damaging 0.89
R0046:Col6a6 UTSW 9 105,626,047 (GRCm39) splice site probably benign
R0066:Col6a6 UTSW 9 105,579,412 (GRCm39) missense probably damaging 0.99
R0066:Col6a6 UTSW 9 105,579,412 (GRCm39) missense probably damaging 0.99
R0140:Col6a6 UTSW 9 105,579,474 (GRCm39) missense probably damaging 1.00
R0278:Col6a6 UTSW 9 105,644,487 (GRCm39) missense possibly damaging 0.87
R0281:Col6a6 UTSW 9 105,661,315 (GRCm39) missense probably benign 0.13
R0382:Col6a6 UTSW 9 105,632,754 (GRCm39) missense probably damaging 0.98
R0389:Col6a6 UTSW 9 105,661,403 (GRCm39) missense probably benign 0.02
R0421:Col6a6 UTSW 9 105,661,405 (GRCm39) missense probably benign 0.02
R0502:Col6a6 UTSW 9 105,644,550 (GRCm39) missense probably benign 0.04
R0503:Col6a6 UTSW 9 105,644,550 (GRCm39) missense probably benign 0.04
R0600:Col6a6 UTSW 9 105,638,639 (GRCm39) missense probably damaging 1.00
R0626:Col6a6 UTSW 9 105,654,943 (GRCm39) missense probably benign 0.45
R0629:Col6a6 UTSW 9 105,604,364 (GRCm39) splice site probably benign
R0690:Col6a6 UTSW 9 105,586,685 (GRCm39) missense probably benign 0.01
R1155:Col6a6 UTSW 9 105,659,289 (GRCm39) missense possibly damaging 0.64
R1245:Col6a6 UTSW 9 105,626,109 (GRCm39) missense possibly damaging 0.62
R1253:Col6a6 UTSW 9 105,651,502 (GRCm39) missense probably null 0.98
R1263:Col6a6 UTSW 9 105,586,688 (GRCm39) missense probably benign 0.01
R1296:Col6a6 UTSW 9 105,658,290 (GRCm39) missense probably damaging 1.00
R1556:Col6a6 UTSW 9 105,586,672 (GRCm39) missense possibly damaging 0.82
R1600:Col6a6 UTSW 9 105,655,274 (GRCm39) missense probably damaging 1.00
R1612:Col6a6 UTSW 9 105,654,748 (GRCm39) missense probably damaging 1.00
R1613:Col6a6 UTSW 9 105,609,410 (GRCm39) critical splice donor site probably null
R1830:Col6a6 UTSW 9 105,579,469 (GRCm39) missense probably damaging 0.99
R1858:Col6a6 UTSW 9 105,658,301 (GRCm39) missense probably damaging 1.00
R1897:Col6a6 UTSW 9 105,662,943 (GRCm39) missense possibly damaging 0.74
R1944:Col6a6 UTSW 9 105,586,583 (GRCm39) missense probably damaging 1.00
R2366:Col6a6 UTSW 9 105,632,893 (GRCm39) missense probably damaging 1.00
R2484:Col6a6 UTSW 9 105,658,003 (GRCm39) missense probably damaging 0.98
R3079:Col6a6 UTSW 9 105,631,422 (GRCm39) missense probably benign 0.01
R3176:Col6a6 UTSW 9 105,663,429 (GRCm39) missense probably benign 0.01
R3276:Col6a6 UTSW 9 105,663,429 (GRCm39) missense probably benign 0.01
R3429:Col6a6 UTSW 9 105,655,166 (GRCm39) missense probably damaging 1.00
R3716:Col6a6 UTSW 9 105,659,373 (GRCm39) missense probably damaging 0.98
R3809:Col6a6 UTSW 9 105,657,891 (GRCm39) missense probably damaging 1.00
R3978:Col6a6 UTSW 9 105,576,078 (GRCm39) missense probably damaging 0.98
R4087:Col6a6 UTSW 9 105,661,155 (GRCm39) missense possibly damaging 0.68
R4382:Col6a6 UTSW 9 105,660,889 (GRCm39) missense probably damaging 1.00
R4516:Col6a6 UTSW 9 105,576,148 (GRCm39) missense possibly damaging 0.64
R4666:Col6a6 UTSW 9 105,644,541 (GRCm39) missense possibly damaging 0.93
R4905:Col6a6 UTSW 9 105,644,623 (GRCm39) missense probably damaging 1.00
R4923:Col6a6 UTSW 9 105,666,147 (GRCm39) missense probably damaging 1.00
R5002:Col6a6 UTSW 9 105,663,292 (GRCm39) missense probably benign 0.00
R5111:Col6a6 UTSW 9 105,586,673 (GRCm39) missense possibly damaging 0.70
R5205:Col6a6 UTSW 9 105,659,232 (GRCm39) missense probably damaging 0.99
R5399:Col6a6 UTSW 9 105,586,306 (GRCm39) missense possibly damaging 0.50
R5475:Col6a6 UTSW 9 105,651,537 (GRCm39) missense probably null 0.79
R5491:Col6a6 UTSW 9 105,615,435 (GRCm39) missense probably damaging 0.98
R5758:Col6a6 UTSW 9 105,638,717 (GRCm39) critical splice acceptor site probably null
R5934:Col6a6 UTSW 9 105,644,274 (GRCm39) missense probably damaging 1.00
R6059:Col6a6 UTSW 9 105,661,116 (GRCm39) missense probably damaging 1.00
R6284:Col6a6 UTSW 9 105,604,426 (GRCm39) splice site probably null
R6425:Col6a6 UTSW 9 105,576,064 (GRCm39) missense probably benign 0.21
R6464:Col6a6 UTSW 9 105,666,152 (GRCm39) start codon destroyed probably null 0.60
R6469:Col6a6 UTSW 9 105,575,890 (GRCm39) missense probably damaging 0.97
R6520:Col6a6 UTSW 9 105,663,024 (GRCm39) missense possibly damaging 0.89
R6552:Col6a6 UTSW 9 105,576,112 (GRCm39) missense probably damaging 1.00
R6750:Col6a6 UTSW 9 105,660,879 (GRCm39) missense probably damaging 1.00
R6813:Col6a6 UTSW 9 105,661,140 (GRCm39) missense probably benign 0.32
R7032:Col6a6 UTSW 9 105,644,707 (GRCm39) missense probably damaging 0.96
R7260:Col6a6 UTSW 9 105,661,168 (GRCm39) missense probably benign 0.00
R7472:Col6a6 UTSW 9 105,659,622 (GRCm39) missense probably damaging 1.00
R7541:Col6a6 UTSW 9 105,644,523 (GRCm39) missense probably damaging 1.00
R7640:Col6a6 UTSW 9 105,662,943 (GRCm39) missense possibly damaging 0.74
R7645:Col6a6 UTSW 9 105,644,397 (GRCm39) critical splice donor site probably null
R7716:Col6a6 UTSW 9 105,661,102 (GRCm39) missense possibly damaging 0.84
R7866:Col6a6 UTSW 9 105,566,760 (GRCm39) missense probably damaging 0.96
R7938:Col6a6 UTSW 9 105,657,883 (GRCm39) nonsense probably null
R8016:Col6a6 UTSW 9 105,644,727 (GRCm39) missense possibly damaging 0.73
R8043:Col6a6 UTSW 9 105,576,219 (GRCm39) missense probably damaging 0.98
R8073:Col6a6 UTSW 9 105,659,146 (GRCm39) missense probably benign 0.01
R8082:Col6a6 UTSW 9 105,661,129 (GRCm39) nonsense probably null
R8243:Col6a6 UTSW 9 105,576,468 (GRCm39) missense probably damaging 1.00
R8306:Col6a6 UTSW 9 105,661,272 (GRCm39) missense probably damaging 0.96
R8324:Col6a6 UTSW 9 105,632,853 (GRCm39) missense probably benign 0.25
R8384:Col6a6 UTSW 9 105,632,893 (GRCm39) missense probably damaging 1.00
R8400:Col6a6 UTSW 9 105,651,995 (GRCm39) missense probably damaging 1.00
R8523:Col6a6 UTSW 9 105,651,987 (GRCm39) missense possibly damaging 0.71
R8842:Col6a6 UTSW 9 105,655,166 (GRCm39) missense probably damaging 1.00
R8862:Col6a6 UTSW 9 105,663,348 (GRCm39) missense probably damaging 1.00
R8907:Col6a6 UTSW 9 105,644,528 (GRCm39) missense probably damaging 0.99
R9021:Col6a6 UTSW 9 105,586,745 (GRCm39) missense possibly damaging 0.85
R9088:Col6a6 UTSW 9 105,661,276 (GRCm39) missense probably damaging 0.99
R9178:Col6a6 UTSW 9 105,659,169 (GRCm39) missense probably benign 0.30
R9225:Col6a6 UTSW 9 105,659,437 (GRCm39) missense possibly damaging 0.75
R9340:Col6a6 UTSW 9 105,651,757 (GRCm39) missense probably damaging 1.00
R9342:Col6a6 UTSW 9 105,663,172 (GRCm39) missense probably benign 0.00
R9360:Col6a6 UTSW 9 105,644,686 (GRCm39) missense probably benign 0.00
R9368:Col6a6 UTSW 9 105,663,300 (GRCm39) missense possibly damaging 0.48
R9398:Col6a6 UTSW 9 105,651,825 (GRCm39) missense probably benign 0.40
R9450:Col6a6 UTSW 9 105,661,373 (GRCm39) missense probably benign
R9454:Col6a6 UTSW 9 105,661,059 (GRCm39) missense probably damaging 0.99
R9458:Col6a6 UTSW 9 105,586,361 (GRCm39) missense probably benign 0.01
R9563:Col6a6 UTSW 9 105,572,952 (GRCm39) missense probably benign 0.02
R9568:Col6a6 UTSW 9 105,657,926 (GRCm39) missense possibly damaging 0.58
R9613:Col6a6 UTSW 9 105,616,401 (GRCm39) missense probably benign 0.07
R9664:Col6a6 UTSW 9 105,658,254 (GRCm39) missense probably benign 0.11
R9747:Col6a6 UTSW 9 105,661,239 (GRCm39) missense probably benign 0.29
R9760:Col6a6 UTSW 9 105,659,253 (GRCm39) missense probably damaging 0.99
X0022:Col6a6 UTSW 9 105,576,531 (GRCm39) missense probably damaging 1.00
Z1176:Col6a6 UTSW 9 105,658,151 (GRCm39) missense probably damaging 1.00
Z1177:Col6a6 UTSW 9 105,666,094 (GRCm39) missense probably null 0.24
Z1177:Col6a6 UTSW 9 105,605,454 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAGCCAGAGTTGACTTCTG -3'
(R):5'- GCTTTTCAAGTGACGAACGC -3'

Sequencing Primer
(F):5'- CTGAGCTTGAAACCCATTTGG -3'
(R):5'- CTTTTCAAGTGACGAACGCTATGG -3'
Posted On 2016-11-14