Incidental Mutation 'R4516:Col6a6'
ID 332921
Institutional Source Beutler Lab
Gene Symbol Col6a6
Ensembl Gene ENSMUSG00000043719
Gene Name collagen, type VI, alpha 6
Synonyms E330026B02Rik
MMRRC Submission 041760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4516 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 105687809-105828160 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105698949 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 2071 (V2071I)
Ref Sequence ENSEMBL: ENSMUSP00000125765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098441] [ENSMUST00000166431]
AlphaFold Q8C6K9
Predicted Effect probably benign
Transcript: ENSMUST00000098441
AA Change: V2071I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: V2071I

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 possibly damaging
Transcript: ENSMUST00000166431
AA Change: V2071I

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: V2071I

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
Meta Mutation Damage Score 0.0978 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 92.9%
Validation Efficiency 86% (51/59)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bean1 T C 8: 104,215,154 (GRCm38) S211P probably damaging Het
Bltp1 T C 3: 36,895,311 (GRCm38) S369P possibly damaging Het
Camta1 A G 4: 151,144,720 (GRCm38) S552P possibly damaging Het
Cdh11 T C 8: 102,673,962 (GRCm38) T125A possibly damaging Het
Cdk5rap2 A T 4: 70,276,715 (GRCm38) probably null Het
Cenpc1 A G 5: 86,047,587 (GRCm38) S108P possibly damaging Het
Cfap20dc A T 14: 8,536,609 (GRCm38) D199E probably damaging Het
Cfap44 T A 16: 44,473,864 (GRCm38) Y224* probably null Het
Cfap46 G A 7: 139,660,082 (GRCm38) probably benign Het
Cntrl G A 2: 35,127,981 (GRCm38) V468I probably benign Het
Coq7 A T 7: 118,509,907 (GRCm38) L306Q unknown Het
D7Ertd443e C G 7: 134,293,328 (GRCm38) Q591H probably damaging Het
Dchs1 C T 7: 105,754,852 (GRCm38) V2828M probably damaging Het
Dzank1 T A 2: 144,510,122 (GRCm38) probably benign Het
Elmo1 C T 13: 20,282,914 (GRCm38) T235I probably benign Het
Elp3 A T 14: 65,547,877 (GRCm38) F492I possibly damaging Het
Espl1 A G 15: 102,323,236 (GRCm38) S90G probably benign Het
Fbxl20 T C 11: 98,095,235 (GRCm38) probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm38) C6R probably benign Het
Got1 T C 19: 43,504,841 (GRCm38) Y243C probably damaging Het
Hipk1 G T 3: 103,750,372 (GRCm38) H799N probably damaging Het
Kif21a A T 15: 90,971,142 (GRCm38) M673K probably benign Het
Lama3 T A 18: 12,495,358 (GRCm38) D1502E probably damaging Het
Limk1 A G 5: 134,676,786 (GRCm38) probably benign Het
Myo5b A G 18: 74,625,674 (GRCm38) Y242C probably damaging Het
Naa12 G A 18: 80,211,576 (GRCm38) M28I probably benign Het
Ncbp1 T C 4: 46,157,824 (GRCm38) V354A probably damaging Het
Ncoa2 T C 1: 13,146,906 (GRCm38) D1380G probably damaging Het
Ntng1 A G 3: 109,935,013 (GRCm38) I148T probably damaging Het
Oas1d A T 5: 120,919,170 (GRCm38) T280S probably damaging Het
Or1e29 C T 11: 73,777,040 (GRCm38) G96S probably benign Het
Or4c15b T A 2: 89,282,843 (GRCm38) M118L probably benign Het
Pax7 T G 4: 139,780,793 (GRCm38) D307A probably benign Het
Pdxdc1 G A 16: 13,838,346 (GRCm38) Q621* probably null Het
Rab29 A T 1: 131,867,731 (GRCm38) Y27F possibly damaging Het
Rab3gap2 G A 1: 185,267,068 (GRCm38) V991I probably benign Het
Ric1 A G 19: 29,570,765 (GRCm38) T278A probably benign Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Slc47a1 T C 11: 61,344,513 (GRCm38) H498R probably benign Het
Spmip6 T C 4: 41,517,200 (GRCm38) probably benign Het
Tas2r116 T C 6: 132,856,150 (GRCm38) L238P probably damaging Het
Tigd5 A T 15: 75,910,515 (GRCm38) R252* probably null Het
Tlr6 A G 5: 64,954,904 (GRCm38) F220S possibly damaging Het
Tmem106b C T 6: 13,075,099 (GRCm38) T95I probably damaging Het
Ubqlnl C T 7: 104,149,718 (GRCm38) V191M probably benign Het
Vmn1r174 A G 7: 23,754,343 (GRCm38) I145V probably benign Het
Vps26a T C 10: 62,468,345 (GRCm38) M116V 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
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
R6284:Col6a6 UTSW 9 105,727,227 (GRCm38) splice site probably null
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'- GTTCCTTGTCATCCCAGTCAGG -3'
(R):5'- GGCACTGCTAGATCACTTCG -3'

Sequencing Primer
(F):5'- TCAGGGCCCAAGGAAAAGAC -3'
(R):5'- GGCACTGCTAGATCACTTCGAAATC -3'
Posted On 2015-08-18