Incidental Mutation 'R2174:Col6a4'
ID 237708
Institutional Source Beutler Lab
Gene Symbol Col6a4
Ensembl Gene ENSMUSG00000032572
Gene Name collagen, type VI, alpha 4
Synonyms Vwa6, EG235580, 1110001D15Rik, Dvwa
MMRRC Submission 040176-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2174 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 105866653-105973982 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105937331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1395 (D1395G)
Ref Sequence ENSEMBL: ENSMUSP00000112472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121963]
AlphaFold A2AX52
Predicted Effect probably damaging
Transcript: ENSMUST00000121963
AA Change: D1395G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: D1395G

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik T C 7: 37,894,252 (GRCm39) I95T possibly damaging Het
Adarb1 A G 10: 77,131,632 (GRCm39) I619T probably benign Het
Aldh2 T C 5: 121,710,731 (GRCm39) probably benign Het
Antxrl T A 14: 33,782,357 (GRCm39) L180Q probably damaging Het
Asnsd1 A T 1: 53,386,760 (GRCm39) I289N probably benign Het
Asxl3 T G 18: 22,586,701 (GRCm39) S164A possibly damaging Het
Cacnb2 C T 2: 14,963,578 (GRCm39) T108I probably benign Het
Capn2 A T 1: 182,307,290 (GRCm39) I516N probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cenpo T C 12: 4,267,318 (GRCm39) K73R probably benign Het
Cfap20dc T C 14: 8,558,109 (GRCm38) I159V probably benign Het
Clasp1 A G 1: 118,487,825 (GRCm39) H823R probably damaging Het
Ddx60 A G 8: 62,409,175 (GRCm39) I404V probably damaging Het
Ddx60 G T 8: 62,470,234 (GRCm39) M1407I probably benign Het
Dennd3 A T 15: 73,427,154 (GRCm39) R844W probably damaging Het
Depdc1b A T 13: 108,498,787 (GRCm39) K157* probably null Het
Dnai7 T C 6: 145,120,896 (GRCm39) H641R probably damaging Het
Dnajc1 T C 2: 18,312,762 (GRCm39) D196G probably damaging Het
Fanca A G 8: 123,998,009 (GRCm39) W1226R probably benign Het
Fbxl13 A G 5: 21,787,046 (GRCm39) V297A possibly damaging Het
Fnta A T 8: 26,503,498 (GRCm39) F96I possibly damaging Het
Fzd3 T C 14: 65,449,680 (GRCm39) probably benign Het
Gckr T C 5: 31,484,353 (GRCm39) V597A possibly damaging Het
Gm43302 T C 5: 105,422,216 (GRCm39) K496R probably benign Het
Gm5283 A G 3: 17,285,005 (GRCm39) noncoding transcript Het
Gm6741 A G 17: 91,544,332 (GRCm39) I32V probably benign Het
Gnptab T A 10: 88,269,906 (GRCm39) F870I probably damaging Het
Gpx8 G A 13: 113,182,140 (GRCm39) P98S probably benign Het
Grm2 T C 9: 106,524,994 (GRCm39) I574V probably benign Het
Gtf3c5 T C 2: 28,457,787 (GRCm39) D468G probably benign Het
Hectd3 A T 4: 116,856,898 (GRCm39) M482L probably benign Het
Ier5 G T 1: 154,974,599 (GRCm39) P193H possibly damaging Het
Inpp4a A G 1: 37,435,211 (GRCm39) N827S probably damaging Het
Kif13a A G 13: 46,922,652 (GRCm39) L387P probably damaging Het
Map3k1 G C 13: 111,889,016 (GRCm39) H1314D possibly damaging Het
Mbl2 G A 19: 30,211,412 (GRCm39) C11Y possibly damaging Het
Msr1 A G 8: 40,084,381 (GRCm39) L58P probably damaging Het
Mtmr10 T A 7: 63,986,512 (GRCm39) F530Y possibly damaging Het
Myo7b A G 18: 32,116,610 (GRCm39) L999P probably damaging Het
Myoz3 T C 18: 60,723,296 (GRCm39) E8G probably benign Het
Naip6 C A 13: 100,435,495 (GRCm39) M1009I probably benign Het
Nav2 T A 7: 49,102,411 (GRCm39) M342K probably damaging Het
Ndufaf6 T C 4: 11,070,228 (GRCm39) H131R probably benign Het
Nlrp4a T C 7: 26,148,849 (GRCm39) L152P probably damaging Het
Or9s23 A G 1: 92,501,379 (GRCm39) N162S probably benign Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Prkdc A T 16: 15,552,786 (GRCm39) Q2074L probably benign Het
Pthlh G A 6: 147,158,510 (GRCm39) T150I probably benign Het
Ptprq A T 10: 107,541,414 (GRCm39) Y371N probably damaging Het
Rfwd3 A G 8: 112,009,975 (GRCm39) S377P probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sap130 T C 18: 31,810,532 (GRCm39) probably null Het
Sap25 T G 5: 137,640,891 (GRCm39) M229R possibly damaging Het
Scaper A T 9: 55,766,321 (GRCm39) V479E probably null Het
Scn3a T A 2: 65,337,550 (GRCm39) D649V probably damaging Het
Slco1a7 A T 6: 141,673,319 (GRCm39) Y406* probably null Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Sowahb T C 5: 93,192,284 (GRCm39) E145G possibly damaging Het
Stxbp5 T A 10: 9,711,590 (GRCm39) I277F possibly damaging Het
Tanc1 T C 2: 59,674,177 (GRCm39) S1754P possibly damaging Het
Tanc2 A G 11: 105,801,135 (GRCm39) D1117G probably benign Het
Tbc1d31 A G 15: 57,815,137 (GRCm39) M605V possibly damaging Het
Tekt3 A T 11: 62,985,514 (GRCm39) D440V possibly damaging Het
Tmem67 C T 4: 12,063,730 (GRCm39) W477* probably null Het
Tra2a T C 6: 49,227,861 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,380 (GRCm39) F51L possibly damaging Het
Trrap C A 5: 144,758,665 (GRCm39) P2183Q probably benign Het
Ubn2 T A 6: 38,447,076 (GRCm39) probably null Het
Unc5d A T 8: 29,184,568 (GRCm39) V644E probably damaging Het
Xpo4 A G 14: 57,827,547 (GRCm39) L883P probably damaging Het
Zbbx T G 3: 74,959,721 (GRCm39) D616A possibly damaging Het
Zfp943 T A 17: 22,211,804 (GRCm39) C297S 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
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'- CCTGAAAGGTTTGCTAGGACTG -3'
(R):5'- GTGAGTCCTCTTCCAAAGCTTTG -3'

Sequencing Primer
(F):5'- CTGAAAGGTTTGCTAGGACTGTAGAG -3'
(R):5'- CCAAAGCTTTGTTTTTCACTTGG -3'
Posted On 2014-10-02