Incidental Mutation 'R7027:Col6a4'
ID 546052
Institutional Source Beutler Lab
Gene Symbol Col6a4
Ensembl Gene ENSMUSG00000032572
Gene Name collagen, type VI, alpha 4
Synonyms Vwa6, EG235580, 1110001D15Rik, Dvwa
MMRRC Submission 045128-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7027 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 105866653-105973982 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105944213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1087 (Y1087C)
Ref Sequence ENSEMBL: ENSMUSP00000112472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121963]
AlphaFold A2AX52
Predicted Effect probably damaging
Transcript: ENSMUST00000121963
AA Change: Y1087C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: Y1087C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VWA 32 211 2.44e-35 SMART
VWA 233 410 8.67e-50 SMART
VWA 428 604 2.74e-29 SMART
VWA 632 816 4.78e-20 SMART
VWA 847 1019 3.02e-40 SMART
VWA 1028 1204 3.17e-43 SMART
VWA 1210 1391 4.73e-1 SMART
low complexity region 1444 1462 N/A INTRINSIC
PDB:3HR2|B 1469 1593 3e-7 PDB
low complexity region 1594 1622 N/A INTRINSIC
low complexity region 1625 1643 N/A INTRINSIC
low complexity region 1649 1671 N/A INTRINSIC
Pfam:Collagen 1684 1748 1.4e-9 PFAM
VWA 1774 1953 2.18e-14 SMART
VWA 1980 2174 1.89e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (85/87)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A T 2: 127,852,003 (GRCm39) M102L probably benign Het
Adcy10 A G 1: 165,345,815 (GRCm39) E288G probably damaging Het
Agap1 A G 1: 89,816,444 (GRCm39) H748R probably benign Het
Ahsg T C 16: 22,711,007 (GRCm39) L48P probably damaging Het
Ankrd27 A G 7: 35,311,951 (GRCm39) T394A probably benign Het
Apc T G 18: 34,445,129 (GRCm39) V657G probably damaging Het
Arl2 T C 19: 6,191,119 (GRCm39) T5A probably benign Het
B020011L13Rik A G 1: 117,729,180 (GRCm39) Y229C probably benign Het
B3gnt5 T A 16: 19,588,740 (GRCm39) S320T probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
BC107364 T G 3: 96,348,057 (GRCm39) R77S unknown Het
Brox G A 1: 183,065,750 (GRCm39) P206L possibly damaging Het
Ccrl2 T C 9: 110,884,953 (GRCm39) K182E probably benign Het
Cd19 A G 7: 126,009,671 (GRCm39) V465A possibly damaging Het
Chrdl2 A T 7: 99,671,240 (GRCm39) Q126H probably damaging Het
Cnbd1 G A 4: 18,862,063 (GRCm39) P376S probably benign Het
Cobll1 A G 2: 64,919,847 (GRCm39) S1194P probably benign Het
Col9a2 G A 4: 120,901,216 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,763,289 (GRCm39) S341P possibly damaging Het
Dnah7a T A 1: 53,670,665 (GRCm39) Y529F probably benign Het
Eif3b C T 5: 140,411,043 (GRCm39) R165W probably damaging Het
Erlec1 C A 11: 30,900,790 (GRCm39) C126F probably damaging Het
Fads2b A G 2: 85,315,871 (GRCm39) Y440H probably damaging Het
Fat2 T C 11: 55,160,259 (GRCm39) T3285A probably benign Het
Fat2 G A 11: 55,172,677 (GRCm39) R2679* probably null Het
Fbxo31 T C 8: 122,305,224 (GRCm39) T91A probably damaging Het
Fkbp5 A G 17: 28,631,037 (GRCm39) Y243H probably damaging Het
Flcn C T 11: 59,686,632 (GRCm39) V374M probably damaging Het
Fndc5 A G 4: 129,033,316 (GRCm39) M128V probably benign Het
Gal3st1 A G 11: 3,949,002 (GRCm39) D403G probably damaging Het
Garem1 T C 18: 21,263,051 (GRCm39) N588D probably benign Het
Gas1 T C 13: 60,324,047 (GRCm39) T196A probably damaging Het
Gcn1 T C 5: 115,754,605 (GRCm39) probably null Het
Gprc5d T G 6: 135,093,646 (GRCm39) Q87P probably damaging Het
Grm1 A G 10: 10,595,339 (GRCm39) L763P probably damaging Het
Hivep2 G T 10: 14,025,321 (GRCm39) K2378N probably damaging Het
Hivep2 G T 10: 14,025,322 (GRCm39) D2379Y probably damaging Het
Itgad A G 7: 127,782,161 (GRCm39) Y199C probably damaging Het
Itm2c A G 1: 85,834,206 (GRCm39) I174V probably benign Het
Khdrbs2 A G 1: 32,453,997 (GRCm39) S128G probably benign Het
Map3k9 T C 12: 81,777,398 (GRCm39) T528A probably benign Het
Mmp11 G A 10: 75,768,230 (GRCm39) probably benign Het
Mycbpap T A 11: 94,405,440 (GRCm39) I30F probably damaging Het
Nfya T C 17: 48,696,340 (GRCm39) T335A probably benign Het
Npat T A 9: 53,481,216 (GRCm39) S1008T possibly damaging Het
Or10al5 G A 17: 38,063,300 (GRCm39) C185Y probably damaging Het
Or12e10 A G 2: 87,641,060 (GRCm39) T299A possibly damaging Het
Or5p69 A T 7: 107,967,557 (GRCm39) M287L probably damaging Het
Or6c219 C T 10: 129,781,041 (GRCm39) A297T possibly damaging Het
Osbpl10 T C 9: 115,052,766 (GRCm39) V613A probably damaging Het
Pcdhga8 T C 18: 37,860,164 (GRCm39) W407R probably benign Het
Pcdhgb4 A G 18: 37,854,415 (GRCm39) D270G probably damaging Het
Pde2a A C 7: 101,160,804 (GRCm39) E918D probably damaging Het
Plekhg5 A G 4: 152,198,431 (GRCm39) D873G probably benign Het
Pno1 A T 11: 17,158,880 (GRCm39) S173T possibly damaging Het
Ppfia3 A G 7: 45,004,160 (GRCm39) I494T possibly damaging Het
Prkrip1 C A 5: 136,210,267 (GRCm39) probably benign Het
Psma5 A G 3: 108,172,484 (GRCm39) I67V probably benign Het
Reep6 G A 10: 80,169,799 (GRCm39) probably null Het
Rtl1 CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC 12: 109,557,848 (GRCm39) probably benign Het
Scyl2 C G 10: 89,481,323 (GRCm39) probably null Het
Sdk1 T A 5: 142,082,481 (GRCm39) probably null Het
Senp5 C A 16: 31,808,113 (GRCm39) K380N probably benign Het
Slc22a14 A T 9: 119,060,281 (GRCm39) probably null Het
Slc26a5 T A 5: 22,021,972 (GRCm39) T485S possibly damaging Het
Slc44a5 T C 3: 153,959,356 (GRCm39) I349T probably benign Het
Smarca5 T C 8: 81,463,355 (GRCm39) E71G probably benign Het
Smok2a A T 17: 13,444,666 (GRCm39) H81L probably damaging Het
Snrnp200 A G 2: 127,059,192 (GRCm39) D388G probably benign Het
Tank T C 2: 61,483,766 (GRCm39) V404A probably benign Het
Tek A G 4: 94,753,747 (GRCm39) D1063G probably damaging Het
Tfap2a C T 13: 40,887,150 (GRCm39) C16Y probably benign Het
Tmc1 A G 19: 20,918,267 (GRCm39) probably null Het
Tnc A G 4: 63,902,826 (GRCm39) F1484L probably benign Het
Tnfsf13 T A 11: 69,575,958 (GRCm39) probably null Het
Tnrc6c T A 11: 117,624,444 (GRCm39) S919T probably damaging Het
Trim17 C A 11: 58,859,442 (GRCm39) Q219K probably benign Het
Trim5 T A 7: 103,914,875 (GRCm39) H389L probably benign Het
Trio T A 15: 27,805,740 (GRCm39) M583L possibly damaging Het
Ttll10 A T 4: 156,120,258 (GRCm39) H389Q possibly damaging Het
Usp24 T C 4: 106,219,441 (GRCm39) S546P probably benign Het
Vmn1r19 T A 6: 57,381,475 (GRCm39) Y9* probably null Het
Vmn2r50 T A 7: 9,781,539 (GRCm39) D402V probably damaging Het
Vmn2r93 C A 17: 18,533,548 (GRCm39) A484E probably benign Het
Vps13a T C 19: 16,642,028 (GRCm39) T2200A probably benign Het
Wdr36 T A 18: 32,974,958 (GRCm39) H103Q probably benign Het
Zfp534 G A 4: 147,759,667 (GRCm39) T334I possibly damaging Het
Zfp804b C T 5: 6,820,372 (GRCm39) S897N probably benign Het
Other mutations in Col6a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Col6a4 APN 9 105,900,095 (GRCm39) missense probably benign 0.00
IGL00691:Col6a4 APN 9 105,934,606 (GRCm39) missense probably damaging 1.00
IGL01508:Col6a4 APN 9 105,890,804 (GRCm39) missense possibly damaging 0.95
IGL01580:Col6a4 APN 9 105,945,397 (GRCm39) missense probably damaging 1.00
IGL01610:Col6a4 APN 9 105,924,906 (GRCm39) splice site probably benign
IGL01813:Col6a4 APN 9 105,954,452 (GRCm39) missense probably damaging 1.00
IGL01933:Col6a4 APN 9 105,937,313 (GRCm39) missense probably benign 0.04
IGL01973:Col6a4 APN 9 105,940,093 (GRCm39) missense probably damaging 1.00
IGL02053:Col6a4 APN 9 105,940,294 (GRCm39) missense possibly damaging 0.92
IGL02063:Col6a4 APN 9 105,934,617 (GRCm39) missense probably benign 0.01
IGL02065:Col6a4 APN 9 105,954,302 (GRCm39) missense probably damaging 0.99
IGL02106:Col6a4 APN 9 105,940,304 (GRCm39) missense possibly damaging 0.95
IGL02220:Col6a4 APN 9 105,940,141 (GRCm39) missense possibly damaging 0.91
IGL02228:Col6a4 APN 9 105,945,277 (GRCm39) missense probably benign
IGL02234:Col6a4 APN 9 105,890,631 (GRCm39) missense possibly damaging 0.92
IGL02294:Col6a4 APN 9 105,943,931 (GRCm39) missense probably benign 0.04
IGL02314:Col6a4 APN 9 105,874,355 (GRCm39) missense probably damaging 0.99
IGL03065:Col6a4 APN 9 105,918,363 (GRCm39) splice site probably benign
IGL03086:Col6a4 APN 9 105,960,061 (GRCm39) splice site probably benign
IGL03185:Col6a4 APN 9 105,896,653 (GRCm39) missense probably damaging 0.97
R0092:Col6a4 UTSW 9 105,890,513 (GRCm39) missense probably benign 0.04
R0095:Col6a4 UTSW 9 105,952,555 (GRCm39) missense probably benign 0.03
R0230:Col6a4 UTSW 9 105,949,565 (GRCm39) missense probably benign 0.11
R0359:Col6a4 UTSW 9 105,874,345 (GRCm39) missense probably benign
R0415:Col6a4 UTSW 9 105,952,279 (GRCm39) missense probably damaging 0.99
R0433:Col6a4 UTSW 9 105,945,193 (GRCm39) missense probably damaging 0.99
R0450:Col6a4 UTSW 9 105,957,746 (GRCm39) missense probably damaging 1.00
R0469:Col6a4 UTSW 9 105,957,746 (GRCm39) missense probably damaging 1.00
R0490:Col6a4 UTSW 9 105,890,969 (GRCm39) missense probably damaging 0.99
R0621:Col6a4 UTSW 9 105,943,990 (GRCm39) missense probably damaging 0.97
R0667:Col6a4 UTSW 9 105,907,158 (GRCm39) splice site probably benign
R0681:Col6a4 UTSW 9 105,944,343 (GRCm39) nonsense probably null
R0690:Col6a4 UTSW 9 105,905,386 (GRCm39) splice site probably benign
R0714:Col6a4 UTSW 9 105,895,102 (GRCm39) unclassified probably benign
R0788:Col6a4 UTSW 9 105,949,197 (GRCm39) missense probably benign 0.15
R1036:Col6a4 UTSW 9 105,945,397 (GRCm39) missense probably damaging 1.00
R1296:Col6a4 UTSW 9 105,940,052 (GRCm39) missense possibly damaging 0.47
R1386:Col6a4 UTSW 9 105,940,144 (GRCm39) missense probably benign 0.15
R1484:Col6a4 UTSW 9 105,890,501 (GRCm39) critical splice donor site probably null
R1528:Col6a4 UTSW 9 105,952,419 (GRCm39) missense probably damaging 0.99
R1555:Col6a4 UTSW 9 105,878,085 (GRCm39) missense possibly damaging 0.93
R1622:Col6a4 UTSW 9 105,874,334 (GRCm39) missense probably benign 0.01
R1653:Col6a4 UTSW 9 105,949,608 (GRCm39) missense probably damaging 0.99
R1720:Col6a4 UTSW 9 105,903,671 (GRCm39) missense probably damaging 1.00
R1768:Col6a4 UTSW 9 105,957,299 (GRCm39) missense probably benign
R1941:Col6a4 UTSW 9 105,952,209 (GRCm39) missense probably benign 0.00
R2092:Col6a4 UTSW 9 105,937,530 (GRCm39) missense probably damaging 1.00
R2134:Col6a4 UTSW 9 105,943,860 (GRCm39) missense probably benign 0.09
R2149:Col6a4 UTSW 9 105,954,128 (GRCm39) missense probably benign 0.00
R2174:Col6a4 UTSW 9 105,937,331 (GRCm39) missense probably damaging 0.98
R2204:Col6a4 UTSW 9 105,937,331 (GRCm39) missense probably damaging 0.98
R2248:Col6a4 UTSW 9 105,957,158 (GRCm39) missense probably benign 0.15
R2568:Col6a4 UTSW 9 105,940,275 (GRCm39) missense possibly damaging 0.90
R3750:Col6a4 UTSW 9 105,897,864 (GRCm39) critical splice acceptor site probably null
R3751:Col6a4 UTSW 9 105,949,313 (GRCm39) missense probably damaging 0.98
R3776:Col6a4 UTSW 9 105,928,900 (GRCm39) nonsense probably null
R3872:Col6a4 UTSW 9 105,890,858 (GRCm39) missense possibly damaging 0.95
R4043:Col6a4 UTSW 9 105,949,610 (GRCm39) nonsense probably null
R4056:Col6a4 UTSW 9 105,903,665 (GRCm39) missense probably damaging 0.98
R4212:Col6a4 UTSW 9 105,952,569 (GRCm39) missense probably benign 0.28
R4417:Col6a4 UTSW 9 105,949,215 (GRCm39) missense probably damaging 0.99
R4683:Col6a4 UTSW 9 105,957,329 (GRCm39) missense probably benign 0.00
R4719:Col6a4 UTSW 9 105,945,451 (GRCm39) missense probably damaging 0.99
R4791:Col6a4 UTSW 9 105,957,401 (GRCm39) missense possibly damaging 0.68
R4833:Col6a4 UTSW 9 105,949,178 (GRCm39) missense probably benign 0.00
R4886:Col6a4 UTSW 9 105,937,271 (GRCm39) missense probably benign 0.00
R4998:Col6a4 UTSW 9 105,867,977 (GRCm39) utr 3 prime probably benign
R5091:Col6a4 UTSW 9 105,952,262 (GRCm39) missense probably damaging 1.00
R5113:Col6a4 UTSW 9 105,944,159 (GRCm39) missense possibly damaging 0.89
R5129:Col6a4 UTSW 9 105,890,576 (GRCm39) missense probably damaging 0.98
R5231:Col6a4 UTSW 9 105,902,730 (GRCm39) missense probably damaging 0.96
R5297:Col6a4 UTSW 9 105,952,066 (GRCm39) missense probably benign 0.02
R5352:Col6a4 UTSW 9 105,938,743 (GRCm39) missense probably damaging 1.00
R5438:Col6a4 UTSW 9 105,890,895 (GRCm39) missense possibly damaging 0.95
R5518:Col6a4 UTSW 9 105,949,387 (GRCm39) missense possibly damaging 0.68
R5657:Col6a4 UTSW 9 105,949,397 (GRCm39) missense probably damaging 0.99
R5660:Col6a4 UTSW 9 105,873,315 (GRCm39) missense probably benign 0.01
R5662:Col6a4 UTSW 9 105,945,200 (GRCm39) missense probably damaging 0.99
R5777:Col6a4 UTSW 9 105,890,895 (GRCm39) missense possibly damaging 0.95
R5800:Col6a4 UTSW 9 105,957,474 (GRCm39) missense probably damaging 0.99
R5929:Col6a4 UTSW 9 105,940,243 (GRCm39) missense probably benign 0.15
R5999:Col6a4 UTSW 9 105,945,120 (GRCm39) missense probably benign 0.11
R6243:Col6a4 UTSW 9 105,890,589 (GRCm39) missense possibly damaging 0.95
R6285:Col6a4 UTSW 9 105,952,185 (GRCm39) missense probably damaging 0.96
R6288:Col6a4 UTSW 9 105,945,462 (GRCm39) missense probably damaging 0.99
R6361:Col6a4 UTSW 9 105,943,902 (GRCm39) missense probably benign 0.28
R6485:Col6a4 UTSW 9 105,954,069 (GRCm39) critical splice donor site probably null
R6490:Col6a4 UTSW 9 105,952,191 (GRCm39) nonsense probably null
R6537:Col6a4 UTSW 9 105,945,153 (GRCm39) missense possibly damaging 0.87
R6598:Col6a4 UTSW 9 105,877,611 (GRCm39) missense probably damaging 0.99
R6643:Col6a4 UTSW 9 105,877,830 (GRCm39) missense probably damaging 0.96
R6905:Col6a4 UTSW 9 105,937,517 (GRCm39) splice site probably null
R6944:Col6a4 UTSW 9 105,949,370 (GRCm39) missense probably damaging 0.98
R7015:Col6a4 UTSW 9 105,910,954 (GRCm39) critical splice donor site probably null
R7088:Col6a4 UTSW 9 105,877,885 (GRCm39) missense possibly damaging 0.56
R7200:Col6a4 UTSW 9 105,949,448 (GRCm39) missense possibly damaging 0.68
R7238:Col6a4 UTSW 9 105,877,519 (GRCm39) missense probably damaging 0.99
R7273:Col6a4 UTSW 9 105,877,656 (GRCm39) missense possibly damaging 0.92
R7335:Col6a4 UTSW 9 105,954,091 (GRCm39) missense possibly damaging 0.90
R7418:Col6a4 UTSW 9 105,900,114 (GRCm39) missense probably damaging 1.00
R7421:Col6a4 UTSW 9 105,897,994 (GRCm39) missense probably damaging 0.99
R7530:Col6a4 UTSW 9 105,945,589 (GRCm39) missense probably damaging 0.99
R7600:Col6a4 UTSW 9 105,944,198 (GRCm39) missense possibly damaging 0.86
R7701:Col6a4 UTSW 9 105,960,087 (GRCm39) missense probably benign 0.17
R7830:Col6a4 UTSW 9 105,952,589 (GRCm39) missense probably damaging 0.99
R7881:Col6a4 UTSW 9 105,957,497 (GRCm39) missense probably benign 0.14
R8157:Col6a4 UTSW 9 105,945,097 (GRCm39) missense possibly damaging 0.92
R8292:Col6a4 UTSW 9 105,954,076 (GRCm39) missense probably benign 0.01
R8309:Col6a4 UTSW 9 105,952,414 (GRCm39) missense probably benign 0.08
R8336:Col6a4 UTSW 9 105,952,528 (GRCm39) missense possibly damaging 0.65
R8359:Col6a4 UTSW 9 105,945,583 (GRCm39) missense probably benign 0.00
R8530:Col6a4 UTSW 9 105,957,704 (GRCm39) missense probably benign 0.31
R8556:Col6a4 UTSW 9 105,944,252 (GRCm39) missense probably damaging 0.96
R8832:Col6a4 UTSW 9 105,949,353 (GRCm39) missense probably benign
R9001:Col6a4 UTSW 9 105,944,370 (GRCm39) missense probably benign 0.26
R9009:Col6a4 UTSW 9 105,954,404 (GRCm39) missense probably benign 0.38
R9069:Col6a4 UTSW 9 105,952,138 (GRCm39) missense possibly damaging 0.85
R9155:Col6a4 UTSW 9 105,952,209 (GRCm39) missense probably benign
R9175:Col6a4 UTSW 9 105,957,560 (GRCm39) missense probably benign
R9176:Col6a4 UTSW 9 105,938,755 (GRCm39) missense probably damaging 1.00
R9295:Col6a4 UTSW 9 105,957,734 (GRCm39) missense probably damaging 1.00
R9298:Col6a4 UTSW 9 105,945,534 (GRCm39) missense probably damaging 0.96
R9389:Col6a4 UTSW 9 105,877,983 (GRCm39) missense probably damaging 1.00
R9424:Col6a4 UTSW 9 105,945,271 (GRCm39) missense probably benign 0.30
R9576:Col6a4 UTSW 9 105,945,271 (GRCm39) missense probably benign 0.30
RF022:Col6a4 UTSW 9 105,954,207 (GRCm39) missense probably damaging 0.99
X0025:Col6a4 UTSW 9 105,877,654 (GRCm39) missense probably damaging 0.99
Z1176:Col6a4 UTSW 9 105,878,069 (GRCm39) missense probably damaging 0.99
Z1176:Col6a4 UTSW 9 105,877,996 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGTTTCTGTCCCTGAGGGC -3'
(R):5'- TGTAAGAGCCAGAAAGCTGACATC -3'

Sequencing Primer
(F):5'- GAGCTACATTATCCTGGGAGAC -3'
(R):5'- GCCAGAAAGCTGACATCATCTTCTTG -3'
Posted On 2019-05-13