Incidental Mutation 'R4791:Col6a4'
ID 368594
Institutional Source Beutler Lab
Gene Symbol Col6a4
Ensembl Gene ENSMUSG00000032572
Gene Name collagen, type VI, alpha 4
Synonyms Vwa6, EG235580, 1110001D15Rik, Dvwa
MMRRC Submission 041976-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4791 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 105866653-105973982 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105957401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 141 (V141E)
Ref Sequence ENSEMBL: ENSMUSP00000112472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121963]
AlphaFold A2AX52
Predicted Effect possibly damaging
Transcript: ENSMUST00000121963
AA Change: V141E

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: V141E

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 45,631,584 (GRCm39) V1231M probably benign Het
Agl A G 3: 116,580,177 (GRCm39) probably null Het
Ak7 T C 12: 105,676,404 (GRCm39) F35L probably benign Het
Aldh1a1 A G 19: 20,597,349 (GRCm39) N110S probably damaging Het
Arhgef5 C T 6: 43,260,117 (GRCm39) L1368F probably damaging Het
Atp5mf T C 5: 145,121,365 (GRCm39) Y72C possibly damaging Het
Atp6v0a2 T G 5: 124,784,667 (GRCm39) F317V probably benign Het
Bank1 A T 3: 135,960,690 (GRCm39) S56T probably benign Het
Cachd1 T A 4: 100,775,282 (GRCm39) C166S probably damaging Het
Cand1 A G 10: 119,046,607 (GRCm39) I961T probably benign Het
Ccdc73 G A 2: 104,811,450 (GRCm39) probably null Het
Cct6b A T 11: 82,632,830 (GRCm39) probably null Het
Chd2 A C 7: 73,118,325 (GRCm39) S1098A probably benign Het
Col6a5 T C 9: 105,807,983 (GRCm39) T1022A unknown Het
Cr2 A T 1: 194,838,243 (GRCm39) C698S probably damaging Het
Dnaaf5 C A 5: 139,170,405 (GRCm39) Q786K possibly damaging Het
Dnah6 T C 6: 73,072,057 (GRCm39) D2423G probably benign Het
Dnhd1 T C 7: 105,370,324 (GRCm39) F4583S probably damaging Het
Duoxa2 A T 2: 122,131,679 (GRCm39) T123S probably damaging Het
Edem1 T G 6: 108,818,595 (GRCm39) V201G probably damaging Het
Eef1d C T 15: 75,775,531 (GRCm39) A43T possibly damaging Het
Elavl3 T C 9: 21,935,974 (GRCm39) K249E probably damaging Het
Epg5 G T 18: 77,992,211 (GRCm39) E303* probably null Het
Fam83h T C 15: 75,874,217 (GRCm39) D1040G probably damaging Het
Fndc7 A T 3: 108,783,975 (GRCm39) F211L probably benign Het
Fsip2 A G 2: 82,812,452 (GRCm39) T2924A possibly damaging Het
Gm5616 T C 9: 48,361,983 (GRCm39) noncoding transcript Het
Gpr135 T A 12: 72,116,642 (GRCm39) D375V probably benign Het
Hgd A G 16: 37,452,187 (GRCm39) *446W probably null Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Htra2 A G 6: 83,028,798 (GRCm39) L379P probably damaging Het
Hypk G T 2: 121,288,136 (GRCm39) probably null Het
Ica1l A G 1: 60,049,360 (GRCm39) F198L probably damaging Het
Igsf11 G A 16: 38,845,226 (GRCm39) S319N probably damaging Het
Il12rb1 T C 8: 71,266,012 (GRCm39) S213P possibly damaging Het
Katnal1 C T 5: 148,841,460 (GRCm39) V135M probably damaging Het
Kcnc4 G A 3: 107,354,859 (GRCm39) P530S probably benign Het
Kcnu1 T C 8: 26,403,780 (GRCm39) Y24H probably damaging Het
Kdm5b A G 1: 134,558,538 (GRCm39) E1515G possibly damaging Het
Kif18a A T 2: 109,118,220 (GRCm39) M12L probably benign Het
Klre1 T C 6: 129,561,118 (GRCm39) S160P probably damaging Het
Lama2 A T 10: 27,343,267 (GRCm39) H68Q probably damaging Het
Lgals8 T C 13: 12,468,203 (GRCm39) K49R possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lsr T C 7: 30,657,977 (GRCm39) T328A probably damaging Het
Mark4 C T 7: 19,185,582 (GRCm39) E51K probably benign Het
Mindy2 T C 9: 70,541,283 (GRCm39) probably null Het
Mkks G A 2: 136,718,082 (GRCm39) T400I probably benign Het
Mon2 T A 10: 122,841,962 (GRCm39) M1544L probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myo5c T G 9: 75,198,198 (GRCm39) L1341R probably damaging Het
Nin T C 12: 70,090,581 (GRCm39) R945G possibly damaging Het
Nox4 T C 7: 86,954,055 (GRCm39) V120A probably benign Het
Or1s2 T A 19: 13,758,706 (GRCm39) C243* probably null Het
Or2aj4 G T 16: 19,385,413 (GRCm39) H73Q possibly damaging Het
Or2z2 A T 11: 58,346,370 (GRCm39) V135E possibly damaging Het
Or4a66 C T 2: 88,531,242 (GRCm39) V144I probably benign Het
Or7g29 T C 9: 19,287,105 (GRCm39) E24G probably benign Het
Plekha2 T A 8: 25,532,778 (GRCm39) R398W probably damaging Het
Pradc1 A G 6: 85,424,173 (GRCm39) W58R probably damaging Het
Pramel20 A G 4: 143,297,559 (GRCm39) probably benign Het
Prrc2b A G 2: 32,107,351 (GRCm39) probably null Het
Psg19 T A 7: 18,528,071 (GRCm39) N224I probably damaging Het
Ranbp17 A C 11: 33,437,746 (GRCm39) V164G probably benign Het
Rasgrp3 A G 17: 75,807,168 (GRCm39) S211G probably benign Het
Rcc1l G A 5: 134,192,615 (GRCm39) P270S possibly damaging Het
Rfx6 T A 10: 51,596,040 (GRCm39) probably null Het
Rnf222 A T 11: 68,783,845 (GRCm39) E137D probably damaging Het
Selenof T G 3: 144,302,584 (GRCm39) Y120D probably damaging Het
Sema3b G T 9: 107,481,012 (GRCm39) D108E probably damaging Het
Shank3 T A 15: 89,384,557 (GRCm39) L143Q probably damaging Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Sirt4 T C 5: 115,618,373 (GRCm39) T234A possibly damaging Het
Slc25a30 C A 14: 76,000,806 (GRCm39) W266L probably benign Het
Spata20 A T 11: 94,375,412 (GRCm39) N127K probably damaging Het
Spmip4 G T 6: 50,572,817 (GRCm39) P32Q probably damaging Het
St14 C T 9: 31,006,918 (GRCm39) G636D probably benign Het
Stat5a G A 11: 100,756,289 (GRCm39) E170K probably damaging Het
Sugp2 C T 8: 70,695,440 (GRCm39) R138C probably damaging Het
Sult1e1 C A 5: 87,734,589 (GRCm39) W119L possibly damaging Het
Sv2a T C 3: 96,099,874 (GRCm39) V608A possibly damaging Het
Syne2 T C 12: 75,956,018 (GRCm39) Y575H possibly damaging Het
Taok2 G A 7: 126,467,304 (GRCm39) S167L possibly damaging Het
Thoc6 T C 17: 23,889,041 (GRCm39) H151R possibly damaging Het
Tm9sf2 T C 14: 122,377,062 (GRCm39) S197P probably benign Het
Tmem260 CAGGGACCGGCATAG CAG 14: 48,749,451 (GRCm39) probably benign Het
Tmx2 G A 2: 84,508,340 (GRCm39) P15L probably damaging Het
Top1mt C T 15: 75,540,474 (GRCm39) probably null Het
Trpm6 T A 19: 18,845,345 (GRCm39) S1682T probably benign Het
Trrap C T 5: 144,740,087 (GRCm39) R1171W probably damaging Het
Ugt3a1 A G 15: 9,361,665 (GRCm39) D147G probably damaging Het
Utp25 G A 1: 192,810,575 (GRCm39) H143Y probably benign Het
Vnn3 A G 10: 23,740,519 (GRCm39) H274R probably benign Het
Vwf C A 6: 125,620,326 (GRCm39) T1668K Het
Zfp568 T C 7: 29,714,608 (GRCm39) S162P probably damaging Het
Zfp658 T A 7: 43,223,890 (GRCm39) C722S possibly damaging Het
Zfp808 T A 13: 62,319,045 (GRCm39) H91Q probably damaging 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
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'- AGAGTACTGCAGAGCTCTGG -3'
(R):5'- CAGCGATACACCCACTTCTG -3'

Sequencing Primer
(F):5'- GCAGCTTCTGGGCAAGG -3'
(R):5'- AGCGATACACCCACTTCTGAGTTC -3'
Posted On 2016-02-04