Incidental Mutation 'R6284:Col6a6'
ID 508119
Institutional Source Beutler Lab
Gene Symbol Col6a6
Ensembl Gene ENSMUSG00000043719
Gene Name collagen, type VI, alpha 6
Synonyms E330026B02Rik
MMRRC Submission 044454-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R6284 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 105687809-105828160 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 105727227 bp (GRCm38)
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195709
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,347,454 (GRCm38) G16C probably damaging Het
Abca7 G A 10: 80,004,410 (GRCm38) V801I probably benign Het
Adgrl2 A T 3: 148,826,507 (GRCm38) L1030Q probably damaging Het
Akap1 T C 11: 88,844,568 (GRCm38) T423A possibly damaging Het
Anpep T A 7: 79,825,802 (GRCm38) D111V probably damaging Het
Atm T A 9: 53,445,376 (GRCm38) probably null Het
Atp5a1 T A 18: 77,778,468 (GRCm38) S106T probably benign Het
Atp5k T C 5: 108,434,059 (GRCm38) I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 (GRCm38) probably null Het
Bclaf1 T G 10: 20,322,160 (GRCm38) probably null Het
Bod1l A G 5: 41,818,787 (GRCm38) V1728A probably benign Het
Braf A G 6: 39,688,282 (GRCm38) F51L possibly damaging Het
Camsap2 A G 1: 136,304,437 (GRCm38) I140T possibly damaging Het
Ccdc24 A T 4: 117,869,653 (GRCm38) probably null Het
Cdh26 G C 2: 178,449,884 (GRCm38) G79R probably damaging Het
Cenpf A G 1: 189,652,742 (GRCm38) L2447P probably damaging Het
Cfap74 T C 4: 155,451,796 (GRCm38) F863L probably damaging Het
Clstn2 C T 9: 97,454,674 (GRCm38) G917S probably benign Het
Cul5 G A 9: 53,623,735 (GRCm38) P596L probably damaging Het
Dst A T 1: 34,229,085 (GRCm38) R2863W probably damaging Het
Dthd1 A G 5: 62,814,041 (GRCm38) E69G possibly damaging Het
Erich2 T A 2: 70,539,684 (GRCm38) I402N probably damaging Het
Fam160a1 G A 3: 85,672,688 (GRCm38) P737S probably benign Het
Fam162b T C 10: 51,585,502 (GRCm38) K155R probably damaging Het
Glb1l2 A T 9: 26,767,448 (GRCm38) S466T probably benign Het
Gm21994 T A 2: 150,255,278 (GRCm38) Y77F possibly damaging Het
Gm5724 T C 6: 141,725,393 (GRCm38) D451G probably damaging Het
Ikbkap A T 4: 56,762,281 (GRCm38) I1106K probably damaging Het
Kazn G A 4: 142,117,197 (GRCm38) L402F probably benign Het
Kcnj13 A T 1: 87,386,886 (GRCm38) S205T probably damaging Het
Lama1 T A 17: 67,810,096 (GRCm38) V2462E probably damaging Het
Lce1b A C 3: 92,656,104 (GRCm38) C41G unknown Het
Lyar T A 5: 38,225,995 (GRCm38) W77R probably damaging Het
March11 G A 15: 26,409,346 (GRCm38) R377Q probably benign Het
Mis18bp1 A G 12: 65,138,787 (GRCm38) F869L probably benign Het
Myom1 T A 17: 71,022,892 (GRCm38) Y6* probably null Het
Myzap T C 9: 71,558,925 (GRCm38) I150V probably benign Het
Nop14 C T 5: 34,641,491 (GRCm38) probably null Het
Oprl1 T A 2: 181,717,991 (GRCm38) probably benign Het
Pacsin1 T C 17: 27,708,504 (GRCm38) L432P probably damaging Het
Peak1 A G 9: 56,260,296 (GRCm38) L116P probably benign Het
Plcb2 C T 2: 118,717,301 (GRCm38) V482M probably benign Het
Pnliprp1 T A 19: 58,734,984 (GRCm38) I269N probably damaging Het
Pnpla7 C A 2: 25,016,618 (GRCm38) D664E possibly damaging Het
Ppa2 G A 3: 133,370,417 (GRCm38) R269H probably benign Het
Rps6kb2 G T 19: 4,161,187 (GRCm38) T113K probably benign Het
Rrp7a A T 15: 83,121,860 (GRCm38) I63N probably damaging Het
Slc29a1 A G 17: 45,589,921 (GRCm38) probably null Het
Stxbp5 A C 10: 9,767,179 (GRCm38) S1059A probably benign Het
Stxbp5 C A 10: 9,767,187 (GRCm38) G1056V probably damaging Het
Taldo1 T A 7: 141,398,583 (GRCm38) S149T possibly damaging Het
Tlr1 T C 5: 64,927,099 (GRCm38) D45G possibly damaging Het
Tnrc6a T C 7: 123,171,335 (GRCm38) S783P probably damaging Het
Trap1 A G 16: 4,060,809 (GRCm38) Y220H probably benign Het
Trpc6 A G 9: 8,643,600 (GRCm38) D462G possibly damaging Het
Ttc21a A G 9: 119,943,962 (GRCm38) E235G probably damaging Het
Tubb4a A G 17: 57,080,833 (GRCm38) Y398H probably damaging Het
Ube2z A G 11: 96,050,407 (GRCm38) F303S probably damaging Het
Vmn1r211 A G 13: 22,852,084 (GRCm38) S138P probably damaging Het
Zfp93 T A 7: 24,275,629 (GRCm38) C346* probably null Het
Zfp938 A T 10: 82,227,566 (GRCm38) S52R possibly damaging Het
Zp1 A T 19: 10,916,503 (GRCm38) L446Q probably damaging Het
Other mutations in Col6a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Col6a6 APN 9 105,758,191 (GRCm38) critical splice acceptor site probably null
IGL00768:Col6a6 APN 9 105,782,412 (GRCm38) missense probably benign 0.04
IGL00917:Col6a6 APN 9 105,784,254 (GRCm38) splice site probably benign
IGL01385:Col6a6 APN 9 105,783,666 (GRCm38) missense probably damaging 1.00
IGL01411:Col6a6 APN 9 105,785,958 (GRCm38) nonsense probably null
IGL01508:Col6a6 APN 9 105,727,166 (GRCm38) splice site probably benign
IGL01668:Col6a6 APN 9 105,709,271 (GRCm38) missense probably damaging 1.00
IGL01733:Col6a6 APN 9 105,709,255 (GRCm38) missense possibly damaging 0.92
IGL01932:Col6a6 APN 9 105,689,626 (GRCm38) missense probably benign 0.02
IGL01934:Col6a6 APN 9 105,698,659 (GRCm38) critical splice donor site probably null
IGL01944:Col6a6 APN 9 105,783,909 (GRCm38) missense probably damaging 1.00
IGL01980:Col6a6 APN 9 105,780,985 (GRCm38) missense probably damaging 0.96
IGL02114:Col6a6 APN 9 105,767,199 (GRCm38) critical splice donor site probably null
IGL02129:Col6a6 APN 9 105,736,340 (GRCm38) splice site probably benign
IGL02201:Col6a6 APN 9 105,780,995 (GRCm38) missense probably damaging 1.00
IGL02335:Col6a6 APN 9 105,784,101 (GRCm38) missense probably damaging 1.00
IGL02541:Col6a6 APN 9 105,732,216 (GRCm38) missense probably benign 0.05
IGL02574:Col6a6 APN 9 105,782,191 (GRCm38) missense probably damaging 1.00
IGL02649:Col6a6 APN 9 105,727,170 (GRCm38) critical splice donor site probably null
IGL02852:Col6a6 APN 9 105,784,073 (GRCm38) missense probably damaging 0.99
IGL03278:Col6a6 APN 9 105,709,452 (GRCm38) missense probably benign 0.01
IGL03327:Col6a6 APN 9 105,767,234 (GRCm38) missense possibly damaging 0.90
PIT4519001:Col6a6 UTSW 9 105,732,263 (GRCm38) missense probably benign 0.23
R0042:Col6a6 UTSW 9 105,780,697 (GRCm38) missense possibly damaging 0.89
R0046:Col6a6 UTSW 9 105,748,848 (GRCm38) splice site probably benign
R0066:Col6a6 UTSW 9 105,702,213 (GRCm38) missense probably damaging 0.99
R0066:Col6a6 UTSW 9 105,702,213 (GRCm38) missense probably damaging 0.99
R0140:Col6a6 UTSW 9 105,702,275 (GRCm38) missense probably damaging 1.00
R0278:Col6a6 UTSW 9 105,767,288 (GRCm38) missense possibly damaging 0.87
R0281:Col6a6 UTSW 9 105,784,116 (GRCm38) missense probably benign 0.13
R0382:Col6a6 UTSW 9 105,755,555 (GRCm38) missense probably damaging 0.98
R0389:Col6a6 UTSW 9 105,784,204 (GRCm38) missense probably benign 0.02
R0421:Col6a6 UTSW 9 105,784,206 (GRCm38) missense probably benign 0.02
R0502:Col6a6 UTSW 9 105,767,351 (GRCm38) missense probably benign 0.04
R0503:Col6a6 UTSW 9 105,767,351 (GRCm38) missense probably benign 0.04
R0600:Col6a6 UTSW 9 105,761,440 (GRCm38) missense probably damaging 1.00
R0626:Col6a6 UTSW 9 105,777,744 (GRCm38) missense probably benign 0.45
R0629:Col6a6 UTSW 9 105,727,165 (GRCm38) splice site probably benign
R0690:Col6a6 UTSW 9 105,709,486 (GRCm38) missense probably benign 0.01
R1155:Col6a6 UTSW 9 105,782,090 (GRCm38) missense possibly damaging 0.64
R1245:Col6a6 UTSW 9 105,748,910 (GRCm38) missense possibly damaging 0.62
R1253:Col6a6 UTSW 9 105,774,303 (GRCm38) missense probably null 0.98
R1263:Col6a6 UTSW 9 105,709,489 (GRCm38) missense probably benign 0.01
R1296:Col6a6 UTSW 9 105,781,091 (GRCm38) missense probably damaging 1.00
R1556:Col6a6 UTSW 9 105,709,473 (GRCm38) missense possibly damaging 0.82
R1600:Col6a6 UTSW 9 105,778,075 (GRCm38) missense probably damaging 1.00
R1612:Col6a6 UTSW 9 105,777,549 (GRCm38) missense probably damaging 1.00
R1613:Col6a6 UTSW 9 105,732,211 (GRCm38) critical splice donor site probably null
R1830:Col6a6 UTSW 9 105,702,270 (GRCm38) missense probably damaging 0.99
R1858:Col6a6 UTSW 9 105,781,102 (GRCm38) missense probably damaging 1.00
R1897:Col6a6 UTSW 9 105,785,744 (GRCm38) missense possibly damaging 0.74
R1944:Col6a6 UTSW 9 105,709,384 (GRCm38) missense probably damaging 1.00
R2366:Col6a6 UTSW 9 105,755,694 (GRCm38) missense probably damaging 1.00
R2484:Col6a6 UTSW 9 105,780,804 (GRCm38) missense probably damaging 0.98
R3079:Col6a6 UTSW 9 105,754,223 (GRCm38) missense probably benign 0.01
R3176:Col6a6 UTSW 9 105,786,230 (GRCm38) missense probably benign 0.01
R3276:Col6a6 UTSW 9 105,786,230 (GRCm38) missense probably benign 0.01
R3429:Col6a6 UTSW 9 105,777,967 (GRCm38) missense probably damaging 1.00
R3716:Col6a6 UTSW 9 105,782,174 (GRCm38) missense probably damaging 0.98
R3809:Col6a6 UTSW 9 105,780,692 (GRCm38) missense probably damaging 1.00
R3978:Col6a6 UTSW 9 105,698,879 (GRCm38) missense probably damaging 0.98
R4087:Col6a6 UTSW 9 105,783,956 (GRCm38) missense possibly damaging 0.68
R4382:Col6a6 UTSW 9 105,783,690 (GRCm38) missense probably damaging 1.00
R4516:Col6a6 UTSW 9 105,698,949 (GRCm38) missense possibly damaging 0.64
R4666:Col6a6 UTSW 9 105,767,342 (GRCm38) missense possibly damaging 0.93
R4905:Col6a6 UTSW 9 105,767,424 (GRCm38) missense probably damaging 1.00
R4923:Col6a6 UTSW 9 105,788,948 (GRCm38) missense probably damaging 1.00
R4951:Col6a6 UTSW 9 105,767,198 (GRCm38) critical splice donor site probably null
R5002:Col6a6 UTSW 9 105,786,093 (GRCm38) missense probably benign 0.00
R5111:Col6a6 UTSW 9 105,709,474 (GRCm38) missense possibly damaging 0.70
R5205:Col6a6 UTSW 9 105,782,033 (GRCm38) missense probably damaging 0.99
R5399:Col6a6 UTSW 9 105,709,107 (GRCm38) missense possibly damaging 0.50
R5475:Col6a6 UTSW 9 105,774,338 (GRCm38) missense probably null 0.79
R5491:Col6a6 UTSW 9 105,738,236 (GRCm38) missense probably damaging 0.98
R5758:Col6a6 UTSW 9 105,761,518 (GRCm38) critical splice acceptor site probably null
R5934:Col6a6 UTSW 9 105,767,075 (GRCm38) missense probably damaging 1.00
R6059:Col6a6 UTSW 9 105,783,917 (GRCm38) missense probably damaging 1.00
R6425:Col6a6 UTSW 9 105,698,865 (GRCm38) missense probably benign 0.21
R6464:Col6a6 UTSW 9 105,788,953 (GRCm38) start codon destroyed probably null 0.60
R6469:Col6a6 UTSW 9 105,698,691 (GRCm38) missense probably damaging 0.97
R6520:Col6a6 UTSW 9 105,785,825 (GRCm38) missense possibly damaging 0.89
R6552:Col6a6 UTSW 9 105,698,913 (GRCm38) missense probably damaging 1.00
R6750:Col6a6 UTSW 9 105,783,680 (GRCm38) missense probably damaging 1.00
R6813:Col6a6 UTSW 9 105,783,941 (GRCm38) missense probably benign 0.32
R7032:Col6a6 UTSW 9 105,767,508 (GRCm38) missense probably damaging 0.96
R7260:Col6a6 UTSW 9 105,783,969 (GRCm38) missense probably benign 0.00
R7472:Col6a6 UTSW 9 105,782,423 (GRCm38) missense probably damaging 1.00
R7541:Col6a6 UTSW 9 105,767,324 (GRCm38) missense probably damaging 1.00
R7640:Col6a6 UTSW 9 105,785,744 (GRCm38) missense possibly damaging 0.74
R7645:Col6a6 UTSW 9 105,767,198 (GRCm38) critical splice donor site probably null
R7716:Col6a6 UTSW 9 105,783,903 (GRCm38) missense possibly damaging 0.84
R7866:Col6a6 UTSW 9 105,689,561 (GRCm38) missense probably damaging 0.96
R7938:Col6a6 UTSW 9 105,780,684 (GRCm38) nonsense probably null
R8016:Col6a6 UTSW 9 105,767,528 (GRCm38) missense possibly damaging 0.73
R8043:Col6a6 UTSW 9 105,699,020 (GRCm38) missense probably damaging 0.98
R8073:Col6a6 UTSW 9 105,781,947 (GRCm38) missense probably benign 0.01
R8082:Col6a6 UTSW 9 105,783,930 (GRCm38) nonsense probably null
R8243:Col6a6 UTSW 9 105,699,269 (GRCm38) missense probably damaging 1.00
R8306:Col6a6 UTSW 9 105,784,073 (GRCm38) missense probably damaging 0.96
R8324:Col6a6 UTSW 9 105,755,654 (GRCm38) missense probably benign 0.25
R8384:Col6a6 UTSW 9 105,755,694 (GRCm38) missense probably damaging 1.00
R8400:Col6a6 UTSW 9 105,774,796 (GRCm38) missense probably damaging 1.00
R8523:Col6a6 UTSW 9 105,774,788 (GRCm38) missense possibly damaging 0.71
R8842:Col6a6 UTSW 9 105,777,967 (GRCm38) missense probably damaging 1.00
R8862:Col6a6 UTSW 9 105,786,149 (GRCm38) missense probably damaging 1.00
R8907:Col6a6 UTSW 9 105,767,329 (GRCm38) missense probably damaging 0.99
R9021:Col6a6 UTSW 9 105,709,546 (GRCm38) missense possibly damaging 0.85
R9088:Col6a6 UTSW 9 105,784,077 (GRCm38) missense probably damaging 0.99
R9178:Col6a6 UTSW 9 105,781,970 (GRCm38) missense probably benign 0.30
R9225:Col6a6 UTSW 9 105,782,238 (GRCm38) missense possibly damaging 0.75
R9340:Col6a6 UTSW 9 105,774,558 (GRCm38) missense probably damaging 1.00
R9342:Col6a6 UTSW 9 105,785,973 (GRCm38) missense probably benign 0.00
R9360:Col6a6 UTSW 9 105,767,487 (GRCm38) missense probably benign 0.00
R9368:Col6a6 UTSW 9 105,786,101 (GRCm38) missense possibly damaging 0.48
R9398:Col6a6 UTSW 9 105,774,626 (GRCm38) missense probably benign 0.40
R9450:Col6a6 UTSW 9 105,784,174 (GRCm38) missense probably benign
R9454:Col6a6 UTSW 9 105,783,860 (GRCm38) missense probably damaging 0.99
R9458:Col6a6 UTSW 9 105,709,162 (GRCm38) missense probably benign 0.01
R9563:Col6a6 UTSW 9 105,695,753 (GRCm38) missense probably benign 0.02
R9568:Col6a6 UTSW 9 105,780,727 (GRCm38) missense possibly damaging 0.58
R9613:Col6a6 UTSW 9 105,739,202 (GRCm38) missense probably benign 0.07
R9664:Col6a6 UTSW 9 105,781,055 (GRCm38) missense probably benign 0.11
R9747:Col6a6 UTSW 9 105,784,040 (GRCm38) missense probably benign 0.29
R9760:Col6a6 UTSW 9 105,782,054 (GRCm38) missense probably damaging 0.99
X0022:Col6a6 UTSW 9 105,699,332 (GRCm38) missense probably damaging 1.00
Z1176:Col6a6 UTSW 9 105,780,952 (GRCm38) missense probably damaging 1.00
Z1177:Col6a6 UTSW 9 105,788,895 (GRCm38) missense probably null 0.24
Z1177:Col6a6 UTSW 9 105,728,255 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGGACATCAGTAAGTGAACC -3'
(R):5'- GAAAGATGGCTGCATGTCCAG -3'

Sequencing Primer
(F):5'- AATGGTACCAGACCCCTT -3'
(R):5'- AGTAGCTGTAATTGTCATTTACAGGG -3'
Posted On 2018-03-15