Incidental Mutation 'R9177:Col6a5'
ID 696761
Institutional Source Beutler Lab
Gene Symbol Col6a5
Ensembl Gene ENSMUSG00000091345
Gene Name collagen, type VI, alpha 5
Synonyms Gm7455, Col6a5
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.842) question?
Stock # R9177 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 105856078-105960643 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 105930953 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 965 (K965N)
Ref Sequence ENSEMBL: ENSMUSP00000139398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165165] [ENSMUST00000190193]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000165165
AA Change: K965N
SMART Domains Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: K965N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
VWA 28 200 1.8e-24 SMART
low complexity region 222 248 N/A INTRINSIC
VWA 266 439 2.23e-20 SMART
VWA 472 649 6.84e-39 SMART
VWA 658 834 1.52e-45 SMART
VWA 844 1024 2.44e-44 SMART
VWA 1035 1208 2.95e-20 SMART
Pfam:Collagen 1425 1478 3.3e-8 PFAM
low complexity region 1493 1508 N/A INTRINSIC
low complexity region 1535 1552 N/A INTRINSIC
Pfam:Collagen 1555 1616 9.6e-10 PFAM
low complexity region 1711 1730 N/A INTRINSIC
low complexity region 1739 1757 N/A INTRINSIC
VWA 1788 1964 1.99e-17 SMART
VWA 1994 2173 5.98e-21 SMART
VWA 2319 2513 4.4e-19 SMART
Predicted Effect unknown
Transcript: ENSMUST00000190193
AA Change: K965N
SMART Domains Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: K965N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
VWA 28 200 1.1e-26 SMART
low complexity region 222 248 N/A INTRINSIC
VWA 266 439 1.4e-22 SMART
VWA 472 649 4.4e-41 SMART
VWA 658 834 9.5e-48 SMART
VWA 844 1024 1.6e-46 SMART
VWA 1035 1208 1.9e-22 SMART
Pfam:Collagen 1425 1478 1.2e-6 PFAM
Pfam:Collagen 1457 1530 5.9e-6 PFAM
low complexity region 1535 1552 N/A INTRINSIC
Pfam:Collagen 1555 1616 3.6e-8 PFAM
Pfam:Collagen 1631 1691 8.4e-6 PFAM
Pfam:Collagen 1706 1764 6.6e-6 PFAM
VWA 1788 1964 1.2e-19 SMART
VWA 1994 2173 3.7e-23 SMART
VWA 2319 2513 2.8e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 138,069,916 V1622D probably damaging Het
Acadsb C T 7: 131,432,034 T260I probably damaging Het
Acap2 A T 16: 31,136,574 V161E probably damaging Het
Alk T C 17: 71,874,195 T1367A probably damaging Het
Atg2a A C 19: 6,241,875 H27P probably damaging Het
Atp2c1 C T 9: 105,459,659 probably null Het
C1s1 T G 6: 124,531,403 K542N probably damaging Het
Camk1d A G 2: 5,299,090 S351P probably benign Het
Carf C A 1: 60,109,399 Q85K possibly damaging Het
Caskin2 T C 11: 115,807,857 N43S probably damaging Het
Cd40 T C 2: 165,063,545 C161R probably damaging Het
Cdh19 A G 1: 110,949,381 F76S probably damaging Het
Cdkl1 T C 12: 69,747,326 N346D probably benign Het
Cdon A G 9: 35,469,934 D540G probably benign Het
Cep164 T A 9: 45,779,762 E379V probably damaging Het
Clock T C 5: 76,229,409 N681S probably benign Het
Col15a1 G C 4: 47,288,200 probably benign Het
Dctn4 T A 18: 60,526,232 M1K probably null Het
Dhx30 T C 9: 110,086,682 D741G probably damaging Het
Dhx37 A G 5: 125,430,894 V104A probably benign Het
Dnah12 A G 14: 26,849,298 K2788R possibly damaging Het
Egfr T A 11: 16,905,410 D898E probably damaging Het
Eif2ak4 G C 2: 118,441,220 probably null Het
Eif6 A G 2: 155,823,932 L101P probably damaging Het
Etaa1 A T 11: 17,946,419 V566E probably damaging Het
Fam126b T C 1: 58,552,202 D94G probably damaging Het
Far2 C T 6: 148,158,920 T257I probably benign Het
Fuca2 G A 10: 13,514,819 W453* probably null Het
Galntl6 A T 8: 57,857,556 Y370* probably null Het
Gcn1l1 T C 5: 115,581,808 V374A probably benign Het
Gm11238 T C 4: 73,657,136 S351P probably damaging Het
Gm884 T A 11: 103,617,437 H1235L unknown Het
Hfe2 T C 3: 96,528,565 F380L probably benign Het
Ifi202b A T 1: 173,977,383 M1K probably null Het
Lama4 A G 10: 39,074,692 Y997C probably damaging Het
Lepr T A 4: 101,745,601 C195* probably null Het
Lrrc73 T C 17: 46,254,609 S89P probably benign Het
Macf1 T C 4: 123,473,789 E2393G probably damaging Het
Mdga2 T A 12: 66,470,707 T118S possibly damaging Het
Mtf2 A G 5: 108,087,083 K124R probably benign Het
Muc5b T C 7: 141,845,338 Y339H unknown Het
Nes G A 3: 87,979,705 G1757E probably damaging Het
Nfatc4 A T 14: 55,827,228 I391F probably damaging Het
Nup93 A T 8: 94,227,743 I23F probably benign Het
Olfr1197 A C 2: 88,728,830 Y256* probably null Het
Olfr1499 A T 19: 13,815,024 C189S probably damaging Het
Olfr183 T G 16: 58,999,720 F12V probably damaging Het
Olfr220 A C 1: 174,449,357 T245P probably damaging Het
Olfr828 G T 9: 18,815,446 Q283K probably damaging Het
Pak7 A C 2: 136,101,206 M338R probably benign Het
Papola A G 12: 105,799,773 E44G probably benign Het
Pcdh15 A T 10: 74,643,623 E522V probably benign Het
Peli2 A G 14: 48,281,470 E225G probably benign Het
Pla2g1b T G 5: 115,474,536 I117S probably damaging Het
Plxnd1 G T 6: 115,966,508 Q1246K probably benign Het
Pole A G 5: 110,332,422 E1953G probably benign Het
Pus7l T C 15: 94,533,564 I395V probably benign Het
Shisa7 T G 7: 4,834,334 D244A probably damaging Het
Slco3a1 T C 7: 74,303,198 T538A probably benign Het
Syk T A 13: 52,612,444 N188K probably benign Het
Tcf20 A G 15: 82,856,504 S249P probably benign Het
Tmem25 T C 9: 44,798,232 T91A possibly damaging Het
Trank1 T C 9: 111,392,511 V2772A probably benign Het
Ttn A T 2: 76,766,103 Y20155* probably null Het
Uchl4 C T 9: 64,235,704 H156Y probably benign Het
Ulbp1 A T 10: 7,446,392 L295Q unknown Het
Vwf G A 6: 125,604,291 A631T Het
Zfp810 C T 9: 22,278,640 C324Y probably damaging Het
Zswim8 T C 14: 20,711,840 L227P probably damaging Het
Other mutations in Col6a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Col6a5 APN 9 105882683 missense probably damaging 1.00
IGL01462:Col6a5 APN 9 105946075 missense unknown
IGL01530:Col6a5 APN 9 105915186 splice site probably benign
IGL01717:Col6a5 APN 9 105940273 missense unknown
IGL01859:Col6a5 APN 9 105930961 nonsense probably null
IGL01945:Col6a5 APN 9 105928290 missense unknown
IGL01985:Col6a5 APN 9 105937283 missense unknown
IGL02128:Col6a5 APN 9 105939894 missense unknown
IGL02170:Col6a5 APN 9 105928422 missense unknown
IGL02224:Col6a5 APN 9 105864335 missense probably damaging 1.00
IGL02246:Col6a5 APN 9 105911107 nonsense probably null
IGL02304:Col6a5 APN 9 105928414 missense unknown
IGL02338:Col6a5 APN 9 105878630 missense probably damaging 1.00
IGL02375:Col6a5 APN 9 105906113 missense unknown
IGL02660:Col6a5 APN 9 105936886 missense unknown
IGL02829:Col6a5 APN 9 105934307 missense unknown
IGL02882:Col6a5 APN 9 105934321 missense unknown
IGL02973:Col6a5 APN 9 105925821 missense unknown
IGL03089:Col6a5 APN 9 105933839 missense unknown
IGL03100:Col6a5 APN 9 105937313 missense unknown
IGL03257:Col6a5 APN 9 105881873 missense possibly damaging 0.95
FR4340:Col6a5 UTSW 9 105934174 missense unknown
FR4342:Col6a5 UTSW 9 105934174 missense unknown
FR4589:Col6a5 UTSW 9 105934174 missense unknown
PIT4131001:Col6a5 UTSW 9 105881914 missense probably damaging 0.98
R0147:Col6a5 UTSW 9 105925794 missense unknown
R0549:Col6a5 UTSW 9 105904579 splice site probably benign
R0622:Col6a5 UTSW 9 105925852 missense unknown
R0628:Col6a5 UTSW 9 105912450 splice site probably null
R0635:Col6a5 UTSW 9 105928606 missense unknown
R0644:Col6a5 UTSW 9 105948324 critical splice donor site probably null
R0828:Col6a5 UTSW 9 105862064 critical splice acceptor site probably null
R0972:Col6a5 UTSW 9 105940285 missense unknown
R1065:Col6a5 UTSW 9 105881783 missense probably damaging 0.99
R1142:Col6a5 UTSW 9 105934317 missense unknown
R1169:Col6a5 UTSW 9 105896974 splice site probably null
R1522:Col6a5 UTSW 9 105939994 missense unknown
R1646:Col6a5 UTSW 9 105862749 nonsense probably null
R1719:Col6a5 UTSW 9 105931293 missense unknown
R1759:Col6a5 UTSW 9 105930846 missense unknown
R1780:Col6a5 UTSW 9 105936878 missense unknown
R1812:Col6a5 UTSW 9 105928054 missense unknown
R1838:Col6a5 UTSW 9 105864833 missense probably benign 0.28
R1839:Col6a5 UTSW 9 105864833 missense probably benign 0.28
R1863:Col6a5 UTSW 9 105940201 missense unknown
R1900:Col6a5 UTSW 9 105931213 missense unknown
R1951:Col6a5 UTSW 9 105936957 missense unknown
R2024:Col6a5 UTSW 9 105936994 missense unknown
R2126:Col6a5 UTSW 9 105945600 missense unknown
R2319:Col6a5 UTSW 9 105937218 missense unknown
R2344:Col6a5 UTSW 9 105928537 missense unknown
R2483:Col6a5 UTSW 9 105864148 missense probably damaging 1.00
R3176:Col6a5 UTSW 9 105911107 nonsense probably null
R3276:Col6a5 UTSW 9 105911107 nonsense probably null
R3438:Col6a5 UTSW 9 105875792 missense possibly damaging 0.88
R3791:Col6a5 UTSW 9 105864669 missense probably damaging 0.99
R3840:Col6a5 UTSW 9 105928611 missense unknown
R3886:Col6a5 UTSW 9 105930930 missense unknown
R3941:Col6a5 UTSW 9 105939834 missense unknown
R4194:Col6a5 UTSW 9 105945914 missense unknown
R4399:Col6a5 UTSW 9 105888965 missense possibly damaging 0.75
R4421:Col6a5 UTSW 9 105928473 missense unknown
R4450:Col6a5 UTSW 9 105904521 missense unknown
R4491:Col6a5 UTSW 9 105940012 missense unknown
R4582:Col6a5 UTSW 9 105862764 missense probably benign 0.17
R4693:Col6a5 UTSW 9 105937172 missense unknown
R4787:Col6a5 UTSW 9 105931081 missense unknown
R4789:Col6a5 UTSW 9 105937335 missense unknown
R4791:Col6a5 UTSW 9 105930784 missense unknown
R4792:Col6a5 UTSW 9 105930784 missense unknown
R4817:Col6a5 UTSW 9 105934298 missense unknown
R4854:Col6a5 UTSW 9 105898751 missense probably benign 0.18
R4927:Col6a5 UTSW 9 105933964 missense unknown
R4969:Col6a5 UTSW 9 105864607 missense probably damaging 1.00
R5037:Col6a5 UTSW 9 105928138 missense unknown
R5118:Col6a5 UTSW 9 105937005 missense unknown
R5144:Col6a5 UTSW 9 105889283 missense probably damaging 1.00
R5145:Col6a5 UTSW 9 105934245 missense unknown
R5160:Col6a5 UTSW 9 105931009 missense unknown
R5182:Col6a5 UTSW 9 105857332 nonsense probably null
R5234:Col6a5 UTSW 9 105864205 missense probably damaging 1.00
R5252:Col6a5 UTSW 9 105940290 missense unknown
R5290:Col6a5 UTSW 9 105946083 missense unknown
R5313:Col6a5 UTSW 9 105945544 missense unknown
R5321:Col6a5 UTSW 9 105928465 missense unknown
R5466:Col6a5 UTSW 9 105931083 missense unknown
R5540:Col6a5 UTSW 9 105862776 missense probably benign 0.44
R5669:Col6a5 UTSW 9 105925998 missense unknown
R5789:Col6a5 UTSW 9 105864608 missense possibly damaging 0.91
R5801:Col6a5 UTSW 9 105948367 missense unknown
R5827:Col6a5 UTSW 9 105928120 nonsense probably null
R5839:Col6a5 UTSW 9 105945393 critical splice donor site probably null
R5908:Col6a5 UTSW 9 105862801 missense possibly damaging 0.88
R5970:Col6a5 UTSW 9 105945847 missense unknown
R6045:Col6a5 UTSW 9 105925918 missense unknown
R6107:Col6a5 UTSW 9 105892272 nonsense probably null
R6168:Col6a5 UTSW 9 105875787 critical splice donor site probably null
R6315:Col6a5 UTSW 9 105881970 missense probably damaging 1.00
R6317:Col6a5 UTSW 9 105889067 missense probably damaging 1.00
R6414:Col6a5 UTSW 9 105892266 splice site probably null
R6434:Col6a5 UTSW 9 105937345 missense unknown
R6456:Col6a5 UTSW 9 105945477 missense unknown
R6698:Col6a5 UTSW 9 105934175 missense unknown
R6876:Col6a5 UTSW 9 105937307 missense unknown
R6882:Col6a5 UTSW 9 105940270 nonsense probably null
R6928:Col6a5 UTSW 9 105939919 missense unknown
R7024:Col6a5 UTSW 9 105912475 nonsense probably null
R7038:Col6a5 UTSW 9 105945738 missense unknown
R7082:Col6a5 UTSW 9 105931239 missense unknown
R7158:Col6a5 UTSW 9 105864208 missense possibly damaging 0.90
R7211:Col6a5 UTSW 9 105928164 missense unknown
R7431:Col6a5 UTSW 9 105928269 missense unknown
R7440:Col6a5 UTSW 9 105881431 nonsense probably null
R7502:Col6a5 UTSW 9 105875876 missense probably benign 0.05
R7577:Col6a5 UTSW 9 105864688 nonsense probably null
R7582:Col6a5 UTSW 9 105945426 missense unknown
R7641:Col6a5 UTSW 9 105881426 nonsense probably null
R7762:Col6a5 UTSW 9 105931324 missense unknown
R7793:Col6a5 UTSW 9 105898735 missense probably damaging 1.00
R7821:Col6a5 UTSW 9 105864259 missense probably damaging 1.00
R7848:Col6a5 UTSW 9 105928186 missense unknown
R7897:Col6a5 UTSW 9 105889183 missense possibly damaging 0.96
R7904:Col6a5 UTSW 9 105928521 missense unknown
R7960:Col6a5 UTSW 9 105945850 missense unknown
R8015:Col6a5 UTSW 9 105881741 missense possibly damaging 0.65
R8100:Col6a5 UTSW 9 105878640 missense probably damaging 1.00
R8131:Col6a5 UTSW 9 105901616 missense unknown
R8418:Col6a5 UTSW 9 105878622 missense probably damaging 1.00
R8425:Col6a5 UTSW 9 105945957 missense unknown
R8678:Col6a5 UTSW 9 105934352 missense unknown
R8690:Col6a5 UTSW 9 105882597 missense probably damaging 0.97
R8847:Col6a5 UTSW 9 105864273 missense possibly damaging 0.81
R8946:Col6a5 UTSW 9 105945634 missense unknown
R8947:Col6a5 UTSW 9 105945634 missense unknown
R8949:Col6a5 UTSW 9 105945634 missense unknown
R8950:Col6a5 UTSW 9 105945634 missense unknown
R9089:Col6a5 UTSW 9 105888943 missense probably damaging 1.00
R9118:Col6a5 UTSW 9 105878654 splice site probably benign
R9169:Col6a5 UTSW 9 105945397 missense unknown
R9180:Col6a5 UTSW 9 105861979 missense probably damaging 0.99
R9205:Col6a5 UTSW 9 105878638 missense probably damaging 1.00
R9214:Col6a5 UTSW 9 105881741 missense possibly damaging 0.65
R9224:Col6a5 UTSW 9 105937395 missense unknown
R9279:Col6a5 UTSW 9 105881777 missense probably damaging 1.00
R9383:Col6a5 UTSW 9 105925911 missense unknown
R9427:Col6a5 UTSW 9 105939793 missense unknown
R9488:Col6a5 UTSW 9 105864589 missense probably damaging 1.00
R9494:Col6a5 UTSW 9 105945533 missense unknown
RF013:Col6a5 UTSW 9 105878597 frame shift probably null
X0054:Col6a5 UTSW 9 105915158 missense unknown
X0058:Col6a5 UTSW 9 105881778 nonsense probably null
Z1088:Col6a5 UTSW 9 105926067 missense unknown
Z1177:Col6a5 UTSW 9 105930785 missense unknown
Predicted Primers PCR Primer
(F):5'- ACACAGAGTCTCTTGCAGAGG -3'
(R):5'- TTGGAGCGCTCACATACTCC -3'

Sequencing Primer
(F):5'- GCAGAGGCAGGTAAATATCTCTC -3'
(R):5'- ACTTACTCAAGTGGATCAGCC -3'
Posted On 2022-02-07