Incidental Mutation 'R1484:Col6a4'
ID 163327
Institutional Source Beutler Lab
Gene Symbol Col6a4
Ensembl Gene ENSMUSG00000032572
Gene Name collagen, type VI, alpha 4
Synonyms Vwa6, EG235580, 1110001D15Rik, Dvwa
MMRRC Submission 039537-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1484 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 105866653-105973982 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 105890501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121963] [ENSMUST00000121963]
AlphaFold A2AX52
Predicted Effect probably null
Transcript: ENSMUST00000121963
SMART Domains Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572

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
Predicted Effect probably null
Transcript: ENSMUST00000121963
SMART Domains Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213434
Predicted Effect probably benign
Transcript: ENSMUST00000218471
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 97% (85/88)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A T 5: 26,684,776 (GRCm39) noncoding transcript Het
Acvr1 A T 2: 58,369,901 (GRCm39) V36E probably damaging Het
Aldh4a1 A G 4: 139,370,758 (GRCm39) I414V probably benign Het
Alox5 C T 6: 116,431,128 (GRCm39) C100Y probably damaging Het
Ano5 T A 7: 51,216,068 (GRCm39) D348E probably damaging Het
Arhgap30 G A 1: 171,230,839 (GRCm39) V199M probably damaging Het
Arl13b T A 16: 62,626,999 (GRCm39) Q234L probably benign Het
Atxn1 C A 13: 45,711,052 (GRCm39) E627* probably null Het
Bend3 T C 10: 43,386,197 (GRCm39) F197L probably benign Het
Brca1 A T 11: 101,420,638 (GRCm39) V190E possibly damaging Het
Brpf1 T C 6: 113,292,096 (GRCm39) W381R probably damaging Het
Brwd1 A C 16: 95,829,491 (GRCm39) probably null Het
C1s2 T C 6: 124,602,604 (GRCm39) I530V possibly damaging Het
C2cd3 C T 7: 100,089,397 (GRCm39) R1638W probably damaging Het
Capns1 T A 7: 29,893,511 (GRCm39) probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cep126 G A 9: 8,100,554 (GRCm39) T660I possibly damaging Het
Cep295 A C 9: 15,246,080 (GRCm39) I744R probably damaging Het
Chd3 T C 11: 69,250,725 (GRCm39) E668G probably benign Het
Chek2 A G 5: 110,996,553 (GRCm39) T172A probably damaging Het
Coq3 G A 4: 21,900,291 (GRCm39) V173I probably benign Het
Cyp4x1 A T 4: 114,970,098 (GRCm39) I343N probably damaging Het
Dnah7b T A 1: 46,176,703 (GRCm39) D774E probably benign Het
Dnai3 T C 3: 145,802,996 (GRCm39) D65G probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Esrra T C 19: 6,890,197 (GRCm39) Y209C probably damaging Het
Gpr149 A T 3: 62,502,592 (GRCm39) D421E probably benign Het
Gpr15 T C 16: 58,538,937 (GRCm39) N51D probably damaging Het
Gpr156 T C 16: 37,812,558 (GRCm39) V298A probably damaging Het
Hmcn2 G A 2: 31,236,507 (GRCm39) G350D probably damaging Het
Ifih1 A T 2: 62,440,902 (GRCm39) N421K probably benign Het
Ilvbl C A 10: 78,412,564 (GRCm39) T95K probably damaging Het
Itgb4 T A 11: 115,890,625 (GRCm39) D1104E probably benign Het
Katnip C A 7: 125,415,743 (GRCm39) probably benign Het
Lipf A T 19: 33,942,180 (GRCm39) M37L probably benign Het
Lyst T A 13: 13,852,775 (GRCm39) N2258K probably benign Het
Moxd1 A G 10: 24,099,758 (GRCm39) Y86C probably damaging Het
Muc5ac T C 7: 141,367,629 (GRCm39) probably null Het
Myo16 G A 8: 10,610,145 (GRCm39) R1162H probably damaging Het
Myo5c A T 9: 75,208,092 (GRCm39) N1609Y probably damaging Het
Nbeal1 T C 1: 60,240,098 (GRCm39) F155L probably damaging Het
Nek4 A T 14: 30,704,290 (GRCm39) M602L possibly damaging Het
Nek9 A G 12: 85,348,622 (GRCm39) S971P probably damaging Het
Nfya A T 17: 48,700,570 (GRCm39) probably benign Het
Nrxn3 A T 12: 89,221,547 (GRCm39) N442I probably damaging Het
Nup42 A C 5: 24,383,075 (GRCm39) K200N probably benign Het
Or1e26 T A 11: 73,480,187 (GRCm39) I126L possibly damaging Het
Or4c111 G A 2: 88,843,713 (GRCm39) R232* probably null Het
Or7g32 G A 9: 19,389,423 (GRCm39) T38I probably damaging Het
Pcdh15 T A 10: 74,126,833 (GRCm39) I304N probably damaging Het
Pigo G C 4: 43,024,779 (GRCm39) P107A probably damaging Het
Plce1 C T 19: 38,693,783 (GRCm39) Q769* probably null Het
Plin2 C T 4: 86,575,481 (GRCm39) R356H probably benign Het
Ppp1r9a G T 6: 5,113,712 (GRCm39) E739* probably null Het
Ppp3cc G T 14: 70,478,397 (GRCm39) N268K probably damaging Het
Prkag3 T A 1: 74,779,919 (GRCm39) D472V probably damaging Het
Ptch2 A T 4: 116,968,046 (GRCm39) D846V probably damaging Het
Rhob A T 12: 8,549,388 (GRCm39) M82K probably damaging Het
Rps6kc1 T A 1: 190,531,672 (GRCm39) R777W possibly damaging Het
Sap130 T A 18: 31,844,380 (GRCm39) V850E probably damaging Het
Sema3a T G 5: 13,523,407 (GRCm39) N125K probably damaging Het
Sema5a A G 15: 32,460,431 (GRCm39) D64G probably damaging Het
Sgo2b T A 8: 64,384,507 (GRCm39) D163V possibly damaging Het
Slc15a1 A T 14: 121,728,651 (GRCm39) Y31* probably null Het
Smchd1 A T 17: 71,685,252 (GRCm39) M1392K probably benign Het
Sobp T A 10: 43,036,827 (GRCm39) N37I probably damaging Het
Spock3 G T 8: 63,673,739 (GRCm39) C142F probably damaging Het
Stx6 A C 1: 155,053,650 (GRCm39) S86R probably benign Het
Sult2a4 C A 7: 13,643,726 (GRCm39) M280I probably benign Het
Synm A T 7: 67,386,080 (GRCm39) D527E probably damaging Het
Tax1bp1 C T 6: 52,710,305 (GRCm39) R195W probably damaging Het
Themis2 A T 4: 132,519,796 (GRCm39) N76K possibly damaging Het
Tmem8b A G 4: 43,690,234 (GRCm39) T890A probably benign Het
Traf7 T A 17: 24,730,785 (GRCm39) H366L possibly damaging Het
Trim30c A T 7: 104,032,459 (GRCm39) V289D probably benign Het
Tsr1 T A 11: 74,792,914 (GRCm39) D407E probably damaging Het
Ubap2 G T 4: 41,235,593 (GRCm39) A33E probably damaging Het
Unc13d C A 11: 115,964,701 (GRCm39) R255L possibly damaging Het
Ush2a G T 1: 188,542,534 (GRCm39) G3367* probably null Het
Vmn1r229 T C 17: 21,034,791 (GRCm39) L12P probably damaging Het
Vmn2r27 C A 6: 124,177,474 (GRCm39) G510V probably damaging Het
Vps4b T C 1: 106,707,712 (GRCm39) E257G probably damaging Het
Vps72 T C 3: 95,026,462 (GRCm39) S136P probably damaging Het
Wdr36 T C 18: 32,976,938 (GRCm39) I181T possibly damaging Het
Wfikkn1 C T 17: 26,096,765 (GRCm39) A520T 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
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
R7027:Col6a4 UTSW 9 105,944,213 (GRCm39) missense probably damaging 1.00
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'- AATTCATGCGCCTCCTAAGAGCC -3'
(R):5'- TTGTCAGACCATCGGGGAAAAGC -3'

Sequencing Primer
(F):5'- AGCCAGGTCATCTGTAGTAGC -3'
(R):5'- GTGGCTAGACACGTATTCAAAC -3'
Posted On 2014-03-28