Incidental Mutation 'IGL03409:Col17a1'
ID 421694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col17a1
Ensembl Gene ENSMUSG00000025064
Gene Name collagen, type XVII, alpha 1
Synonyms Bpag2, BP180, BPAg2, Bpag
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03409
Quality Score
Status
Chromosome 19
Chromosomal Location 47634783-47680460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47654979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 599 (I599N)
Ref Sequence ENSEMBL: ENSMUSP00000084141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026045] [ENSMUST00000086923]
AlphaFold Q07563
Predicted Effect possibly damaging
Transcript: ENSMUST00000026045
AA Change: I599N

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: I599N

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
low complexity region 60 74 N/A INTRINSIC
low complexity region 317 335 N/A INTRINSIC
low complexity region 431 461 N/A INTRINSIC
transmembrane domain 476 498 N/A INTRINSIC
Pfam:Collagen 570 631 3.2e-10 PFAM
low complexity region 634 651 N/A INTRINSIC
low complexity region 657 693 N/A INTRINSIC
internal_repeat_4 695 714 1.12e-5 PROSPERO
internal_repeat_3 695 723 3.81e-6 PROSPERO
internal_repeat_1 709 735 1.93e-9 PROSPERO
internal_repeat_4 719 738 1.12e-5 PROSPERO
Pfam:Collagen 753 816 1.3e-10 PFAM
Pfam:Collagen 825 871 5.9e-9 PFAM
low complexity region 889 927 N/A INTRINSIC
low complexity region 939 960 N/A INTRINSIC
low complexity region 981 999 N/A INTRINSIC
low complexity region 1024 1034 N/A INTRINSIC
low complexity region 1054 1071 N/A INTRINSIC
low complexity region 1091 1113 N/A INTRINSIC
low complexity region 1126 1147 N/A INTRINSIC
low complexity region 1165 1177 N/A INTRINSIC
low complexity region 1201 1217 N/A INTRINSIC
low complexity region 1252 1266 N/A INTRINSIC
low complexity region 1275 1337 N/A INTRINSIC
low complexity region 1375 1385 N/A INTRINSIC
Pfam:Collagen 1408 1462 3.5e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000086923
AA Change: I599N

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: I599N

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
low complexity region 60 74 N/A INTRINSIC
low complexity region 317 335 N/A INTRINSIC
low complexity region 431 461 N/A INTRINSIC
transmembrane domain 476 498 N/A INTRINSIC
Pfam:Collagen 570 631 3.1e-10 PFAM
Pfam:Collagen 647 726 5.2e-7 PFAM
Pfam:Collagen 699 772 1.8e-9 PFAM
Pfam:Collagen 753 816 1.3e-10 PFAM
Pfam:Collagen 825 871 5.9e-9 PFAM
low complexity region 889 927 N/A INTRINSIC
low complexity region 939 960 N/A INTRINSIC
low complexity region 981 999 N/A INTRINSIC
low complexity region 1024 1034 N/A INTRINSIC
low complexity region 1054 1071 N/A INTRINSIC
low complexity region 1091 1113 N/A INTRINSIC
low complexity region 1126 1147 N/A INTRINSIC
low complexity region 1164 1180 N/A INTRINSIC
low complexity region 1215 1229 N/A INTRINSIC
low complexity region 1238 1300 N/A INTRINSIC
low complexity region 1338 1348 N/A INTRINSIC
Pfam:Collagen 1371 1425 3.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145254
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 124,691,762 (GRCm39) M401K possibly damaging Het
Ablim3 T A 18: 61,978,922 (GRCm39) H203L probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aox1 T G 1: 58,393,588 (GRCm39) D1249E possibly damaging Het
Astn2 T C 4: 65,353,423 (GRCm39) I1116V possibly damaging Het
Atad3a T C 4: 155,831,807 (GRCm39) D489G probably damaging Het
Caln1 G T 5: 130,646,719 (GRCm39) G52C probably damaging Het
Clcn7 A G 17: 25,374,359 (GRCm39) T467A probably damaging Het
Cul2 T A 18: 3,429,593 (GRCm39) H547Q probably damaging Het
Cxcl14 T C 13: 56,440,320 (GRCm39) T80A probably damaging Het
Dscaml1 T A 9: 45,581,401 (GRCm39) Y407N probably damaging Het
Edc4 T A 8: 106,611,748 (GRCm39) I108N probably damaging Het
Exoc2 T C 13: 31,124,720 (GRCm39) probably benign Het
Gm1110 T G 9: 26,807,916 (GRCm39) H290P probably benign Het
Gm16223 T A 5: 42,225,336 (GRCm39) W12R unknown Het
Herc2 C A 7: 55,878,317 (GRCm39) H4623Q probably damaging Het
Igkv18-36 A T 6: 69,969,589 (GRCm39) H68Q possibly damaging Het
Kif7 T C 7: 79,357,301 (GRCm39) E635G probably benign Het
Or2t47 T C 11: 58,442,388 (GRCm39) K226E probably benign Het
Or4c109 A T 2: 88,817,931 (GRCm39) I205N possibly damaging Het
Or52z13 T A 7: 103,246,574 (GRCm39) M17K possibly damaging Het
Or9m1b A T 2: 87,836,239 (GRCm39) N285K probably damaging Het
Pam C A 1: 97,792,054 (GRCm39) A456S probably benign Het
Pgap3 T C 11: 98,289,764 (GRCm39) T76A possibly damaging Het
Pkd2 C A 5: 104,637,215 (GRCm39) Y609* probably null Het
Plcg2 A G 8: 118,310,234 (GRCm39) D362G probably damaging Het
Polr3h C A 15: 81,801,595 (GRCm39) A94S probably benign Het
Rhod T C 19: 4,482,186 (GRCm39) D76G probably damaging Het
Rims2 T C 15: 39,320,129 (GRCm39) V670A probably damaging Het
Rpap3 G A 15: 97,579,620 (GRCm39) T464M possibly damaging Het
Rufy1 T A 11: 50,297,310 (GRCm39) I381L probably benign Het
Slc1a4 T C 11: 20,256,506 (GRCm39) T442A probably damaging Het
Slc9b1 T C 3: 135,100,670 (GRCm39) S472P probably damaging Het
Tmtc3 T C 10: 100,287,294 (GRCm39) T501A possibly damaging Het
Tnpo3 C A 6: 29,555,181 (GRCm39) D801Y probably damaging Het
Ttc39b T C 4: 83,179,193 (GRCm39) Y111C probably damaging Het
Ubr4 A T 4: 139,127,240 (GRCm39) R543* probably null Het
Vmn1r74 T G 7: 11,581,240 (GRCm39) L180R probably damaging Het
Vps45 T G 3: 95,960,401 (GRCm39) E80A probably benign Het
Zfp677 T C 17: 21,617,107 (GRCm39) Y55H probably damaging Het
Zng1 A G 19: 24,900,130 (GRCm39) V289A probably benign Het
Other mutations in Col17a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Col17a1 APN 19 47,669,842 (GRCm39) missense probably damaging 1.00
IGL01620:Col17a1 APN 19 47,656,978 (GRCm39) missense possibly damaging 0.81
IGL02149:Col17a1 APN 19 47,657,071 (GRCm39) missense probably benign 0.01
IGL02176:Col17a1 APN 19 47,639,658 (GRCm39) missense probably benign 0.02
IGL03352:Col17a1 APN 19 47,669,814 (GRCm39) splice site probably null
fleabitten UTSW 19 47,656,544 (GRCm39) nonsense probably null
idaho UTSW 19 47,667,861 (GRCm39) nonsense probably null
scabby UTSW 19 47,668,847 (GRCm39) nonsense probably null
testimony UTSW 19 47,643,629 (GRCm39) critical splice donor site probably null
IGL03050:Col17a1 UTSW 19 47,636,537 (GRCm39) critical splice donor site probably null
PIT4480001:Col17a1 UTSW 19 47,659,813 (GRCm39) missense probably benign 0.05
R0309:Col17a1 UTSW 19 47,659,801 (GRCm39) splice site probably benign
R0316:Col17a1 UTSW 19 47,673,972 (GRCm39) critical splice donor site probably null
R0330:Col17a1 UTSW 19 47,658,871 (GRCm39) missense probably benign 0.27
R0391:Col17a1 UTSW 19 47,652,263 (GRCm39) missense probably damaging 0.99
R0570:Col17a1 UTSW 19 47,654,317 (GRCm39) missense possibly damaging 0.93
R0737:Col17a1 UTSW 19 47,657,872 (GRCm39) missense possibly damaging 0.95
R1344:Col17a1 UTSW 19 47,659,944 (GRCm39) missense probably damaging 1.00
R1418:Col17a1 UTSW 19 47,659,944 (GRCm39) missense probably damaging 1.00
R1549:Col17a1 UTSW 19 47,637,349 (GRCm39) unclassified probably benign
R1585:Col17a1 UTSW 19 47,639,276 (GRCm39) missense probably benign 0.00
R1710:Col17a1 UTSW 19 47,659,370 (GRCm39) missense probably damaging 1.00
R1712:Col17a1 UTSW 19 47,637,442 (GRCm39) unclassified probably benign
R1800:Col17a1 UTSW 19 47,639,301 (GRCm39) missense possibly damaging 0.72
R2007:Col17a1 UTSW 19 47,656,141 (GRCm39) missense probably damaging 1.00
R2024:Col17a1 UTSW 19 47,639,185 (GRCm39) missense probably benign 0.02
R2258:Col17a1 UTSW 19 47,669,816 (GRCm39) critical splice donor site probably null
R2268:Col17a1 UTSW 19 47,638,550 (GRCm39) missense probably benign 0.00
R3608:Col17a1 UTSW 19 47,668,844 (GRCm39) missense probably benign 0.00
R4380:Col17a1 UTSW 19 47,645,529 (GRCm39) missense possibly damaging 0.94
R4675:Col17a1 UTSW 19 47,651,497 (GRCm39) critical splice acceptor site probably null
R4928:Col17a1 UTSW 19 47,658,897 (GRCm39) splice site probably null
R5058:Col17a1 UTSW 19 47,673,989 (GRCm39) nonsense probably null
R5407:Col17a1 UTSW 19 47,654,946 (GRCm39) missense probably damaging 1.00
R5417:Col17a1 UTSW 19 47,650,829 (GRCm39) missense probably damaging 1.00
R5572:Col17a1 UTSW 19 47,639,168 (GRCm39) missense probably benign 0.44
R5889:Col17a1 UTSW 19 47,637,511 (GRCm39) missense possibly damaging 0.93
R5988:Col17a1 UTSW 19 47,642,659 (GRCm39) missense probably damaging 1.00
R6054:Col17a1 UTSW 19 47,668,859 (GRCm39) missense probably damaging 1.00
R6345:Col17a1 UTSW 19 47,641,818 (GRCm39) missense possibly damaging 0.93
R6432:Col17a1 UTSW 19 47,668,847 (GRCm39) nonsense probably null
R6484:Col17a1 UTSW 19 47,658,868 (GRCm39) missense possibly damaging 0.67
R6754:Col17a1 UTSW 19 47,639,160 (GRCm39) splice site probably null
R7028:Col17a1 UTSW 19 47,640,622 (GRCm39) missense probably damaging 0.96
R7465:Col17a1 UTSW 19 47,656,544 (GRCm39) nonsense probably null
R7565:Col17a1 UTSW 19 47,659,963 (GRCm39) missense possibly damaging 0.77
R7662:Col17a1 UTSW 19 47,669,940 (GRCm39) missense probably benign 0.04
R7726:Col17a1 UTSW 19 47,643,629 (GRCm39) critical splice donor site probably null
R7957:Col17a1 UTSW 19 47,649,556 (GRCm39) missense probably damaging 1.00
R8677:Col17a1 UTSW 19 47,640,240 (GRCm39) missense probably benign 0.14
R8720:Col17a1 UTSW 19 47,637,531 (GRCm39) critical splice acceptor site probably benign
R8877:Col17a1 UTSW 19 47,637,197 (GRCm39) missense unknown
R9017:Col17a1 UTSW 19 47,657,898 (GRCm39) missense probably benign 0.00
R9057:Col17a1 UTSW 19 47,637,522 (GRCm39) missense probably damaging 0.96
R9231:Col17a1 UTSW 19 47,667,861 (GRCm39) nonsense probably null
R9714:Col17a1 UTSW 19 47,636,634 (GRCm39) missense unknown
Z1088:Col17a1 UTSW 19 47,640,617 (GRCm39) missense possibly damaging 0.85
Z1176:Col17a1 UTSW 19 47,637,868 (GRCm39) small deletion probably benign
Z1177:Col17a1 UTSW 19 47,638,743 (GRCm39) missense possibly damaging 0.65
Posted On 2016-08-02