Incidental Mutation 'R1245:Col6a6'
ID 152132
Institutional Source Beutler Lab
Gene Symbol Col6a6
Ensembl Gene ENSMUSG00000043719
Gene Name collagen, type VI, alpha 6
Synonyms E330026B02Rik
MMRRC Submission 039312-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R1245 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 105687809-105828160 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105748910 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1515 (R1515C)
Ref Sequence ENSEMBL: ENSMUSP00000096040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098441] [ENSMUST00000166431]
AlphaFold Q8C6K9
Predicted Effect possibly damaging
Transcript: ENSMUST00000098441
AA Change: R1515C

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: R1515C

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 benign
Transcript: ENSMUST00000166431
AA Change: R1515C

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: R1515C

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,169,410 (GRCm38) probably benign Het
Ahnak A G 19: 9,004,169 (GRCm38) N939S probably benign Het
Cblb C A 16: 52,047,187 (GRCm38) probably benign Het
Cd22 A G 7: 30,869,883 (GRCm38) S603P probably damaging Het
Csf1r C A 18: 61,114,812 (GRCm38) D317E probably benign Het
Dlg2 T C 7: 92,442,595 (GRCm38) probably benign Het
Enpp3 G A 10: 24,784,953 (GRCm38) probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,577,224 (GRCm38) probably null Het
Gm5828 A T 1: 16,769,129 (GRCm38) noncoding transcript Het
Gpr137c T C 14: 45,279,065 (GRCm38) probably benign Het
Ibtk A G 9: 85,720,742 (GRCm38) probably null Het
Kctd7 A G 5: 130,148,217 (GRCm38) H96R possibly damaging Het
Lmcd1 T A 6: 112,315,712 (GRCm38) V175E probably benign Het
Lrfn2 A T 17: 49,096,249 (GRCm38) probably null Het
Ltbp1 C T 17: 75,327,194 (GRCm38) probably benign Het
Myc A G 15: 61,987,897 (GRCm38) I140V probably damaging Het
Nckap1l A G 15: 103,455,925 (GRCm38) E100G probably damaging Het
Ncs1 A G 2: 31,284,693 (GRCm38) N143S probably benign Het
Nmnat2 A G 1: 153,112,203 (GRCm38) D238G probably benign Het
Olfr1122 T A 2: 87,388,209 (GRCm38) V168E probably benign Het
Ppp2r3a G A 9: 101,194,394 (GRCm38) T675I probably damaging Het
Psma2 A G 13: 14,613,291 (GRCm38) Y6C probably damaging Het
Rspo4 G A 2: 151,867,926 (GRCm38) E84K probably damaging Het
Shank2 G A 7: 144,411,720 (GRCm38) V1015I probably benign Het
Slc35e1 T C 8: 72,492,571 (GRCm38) probably benign Het
Smg8 T C 11: 87,083,610 (GRCm38) D632G possibly damaging Het
Sppl2a A T 2: 126,913,521 (GRCm38) probably benign Het
Svep1 A G 4: 58,066,427 (GRCm38) probably null Het
Ttn T A 2: 76,945,700 (GRCm38) K1666M probably damaging Het
Ulk1 A G 5: 110,789,340 (GRCm38) probably null Het
Unc80 A G 1: 66,555,095 (GRCm38) D1211G possibly damaging Het
Vmn2r112 A G 17: 22,603,247 (GRCm38) Q302R probably benign Het
Vmn2r6 A G 3: 64,556,790 (GRCm38) S208P possibly damaging Het
Wnk1 C T 6: 119,948,457 (GRCm38) V1847I probably benign Het
Zfp653 A T 9: 22,056,422 (GRCm38) I529N probably damaging Het
Zfp948 T C 17: 21,586,842 (GRCm38) S99P probably damaging Het
Zfyve9 A G 4: 108,693,311 (GRCm38) probably benign Het
Zscan29 T C 2: 121,166,503 (GRCm38) T246A 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
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
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'- GCAGCCAGTTGACAAACAATGCTC -3'
(R):5'- GGACACAAGTTCTGTCCTCTTGCC -3'

Sequencing Primer
(F):5'- GCTCCTAATGTTCAGAAGTTCAG -3'
(R):5'- CACAGCTCCTGTAGCGAG -3'
Posted On 2014-01-29