Incidental Mutation 'IGL01620:Col17a1'
ID92493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col17a1
Ensembl Gene ENSMUSG00000025064
Gene Namecollagen, type XVII, alpha 1
SynonymsBP180, Bpag2, BPAg2, Bpag
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01620
Quality Score
Status
Chromosome19
Chromosomal Location47646344-47692094 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 47668539 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 555 (I555T)
Ref Sequence ENSEMBL: ENSMUSP00000084141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026045] [ENSMUST00000086923]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026045
AA Change: I555T

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: I555T

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: I555T

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: I555T

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,339,950 V277D probably damaging Het
Akap9 T A 5: 3,960,218 V325D probably benign Het
Ambra1 A G 2: 91,911,412 probably null Het
Ano9 A G 7: 141,110,439 L94P probably damaging Het
Atad3a G T 4: 155,746,078 T521K probably damaging Het
Bckdk A G 7: 127,905,776 K126E possibly damaging Het
Bdp1 A T 13: 100,084,205 probably benign Het
Btbd17 T C 11: 114,795,773 T26A probably benign Het
Cadps2 G A 6: 23,587,462 S314L probably benign Het
Ccdc155 T C 7: 45,189,960 D359G probably damaging Het
Ccl8 A T 11: 82,116,609 Q90L probably damaging Het
Chit1 T C 1: 134,150,519 V355A probably damaging Het
Dmwd T A 7: 19,081,234 probably null Het
Dtna T C 18: 23,625,087 I483T probably damaging Het
Eloc T A 1: 16,643,278 probably benign Het
Emc7 T A 2: 112,464,774 L177H probably damaging Het
Emsy T A 7: 98,626,624 K352I probably damaging Het
Ermn T C 2: 58,052,490 E76G probably benign Het
Flot1 A T 17: 35,829,871 E203V possibly damaging Het
Hsd11b2 A G 8: 105,522,897 K266R probably benign Het
Iqck A T 7: 118,877,678 K154M probably damaging Het
Itgb5 T A 16: 33,919,798 V426E probably damaging Het
Kif13a T C 13: 46,864,820 K53R probably benign Het
Klhl2 A T 8: 64,779,738 H168Q probably damaging Het
Lpcat2b T C 5: 107,433,893 Y363H probably damaging Het
Lrp6 A T 6: 134,511,262 N290K probably damaging Het
Map2k3 T C 11: 60,950,047 F301L possibly damaging Het
Mns1 A G 9: 72,456,913 probably benign Het
Nos1 A G 5: 117,905,309 probably null Het
Olfr346 T A 2: 36,688,538 C179S probably damaging Het
Olfr652 T A 7: 104,565,013 V264D probably damaging Het
Pask A T 1: 93,310,122 H1374Q possibly damaging Het
Pik3r1 G A 13: 101,686,220 A658V probably damaging Het
Ppp2r2a A T 14: 67,070,277 F14I probably damaging Het
Ptprc C T 1: 138,068,410 E904K possibly damaging Het
Rab11fip4 G T 11: 79,691,879 D591Y possibly damaging Het
Rab3gap2 A G 1: 185,204,326 T29A probably benign Het
Rgs19 A G 2: 181,689,588 V84A possibly damaging Het
Shisa6 T G 11: 66,217,879 M391L probably benign Het
Sipa1l1 G A 12: 82,422,489 G1254D probably damaging Het
Slfn8 A T 11: 83,004,233 Y358* probably null Het
Taf3 G T 2: 9,952,661 R232S probably benign Het
Terb2 T A 2: 122,204,857 H186Q possibly damaging Het
Trav13n-4 T C 14: 53,364,016 S81P probably damaging Het
Trim30d G T 7: 104,472,126 P321T possibly damaging Het
Tyrp1 G T 4: 80,844,802 G309* probably null Het
Vps13d C A 4: 145,094,867 G2979V possibly damaging Het
Other mutations in Col17a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Col17a1 APN 19 47681403 missense probably damaging 1.00
IGL02149:Col17a1 APN 19 47668632 missense probably benign 0.01
IGL02176:Col17a1 APN 19 47651219 missense probably benign 0.02
IGL03352:Col17a1 APN 19 47681375 splice site probably null
IGL03409:Col17a1 APN 19 47666540 missense possibly damaging 0.79
scabby UTSW 19 47680408 nonsense probably null
IGL03050:Col17a1 UTSW 19 47648098 critical splice donor site probably null
PIT4480001:Col17a1 UTSW 19 47671374 missense probably benign 0.05
R0309:Col17a1 UTSW 19 47671362 splice site probably benign
R0316:Col17a1 UTSW 19 47685533 critical splice donor site probably null
R0330:Col17a1 UTSW 19 47670432 missense probably benign 0.27
R0391:Col17a1 UTSW 19 47663824 missense probably damaging 0.99
R0570:Col17a1 UTSW 19 47665878 missense possibly damaging 0.93
R0737:Col17a1 UTSW 19 47669433 missense possibly damaging 0.95
R1344:Col17a1 UTSW 19 47671505 missense probably damaging 1.00
R1418:Col17a1 UTSW 19 47671505 missense probably damaging 1.00
R1549:Col17a1 UTSW 19 47648910 unclassified probably benign
R1585:Col17a1 UTSW 19 47650837 missense probably benign 0.00
R1710:Col17a1 UTSW 19 47670931 missense probably damaging 1.00
R1712:Col17a1 UTSW 19 47649003 unclassified probably benign
R1800:Col17a1 UTSW 19 47650862 missense possibly damaging 0.72
R2007:Col17a1 UTSW 19 47667702 missense probably damaging 1.00
R2024:Col17a1 UTSW 19 47650746 missense probably benign 0.02
R2258:Col17a1 UTSW 19 47681377 critical splice donor site probably null
R2268:Col17a1 UTSW 19 47650111 missense probably benign 0.00
R3608:Col17a1 UTSW 19 47680405 missense probably benign 0.00
R4380:Col17a1 UTSW 19 47657090 missense possibly damaging 0.94
R4675:Col17a1 UTSW 19 47663058 critical splice acceptor site probably null
R4928:Col17a1 UTSW 19 47670458 splice site probably null
R5058:Col17a1 UTSW 19 47685550 nonsense probably null
R5407:Col17a1 UTSW 19 47666507 missense probably damaging 1.00
R5417:Col17a1 UTSW 19 47662390 missense probably damaging 1.00
R5572:Col17a1 UTSW 19 47650729 missense probably benign 0.44
R5889:Col17a1 UTSW 19 47649072 missense possibly damaging 0.93
R5988:Col17a1 UTSW 19 47654220 missense probably damaging 1.00
R6054:Col17a1 UTSW 19 47680420 missense probably damaging 1.00
R6345:Col17a1 UTSW 19 47653379 missense possibly damaging 0.93
R6432:Col17a1 UTSW 19 47680408 nonsense probably null
R6484:Col17a1 UTSW 19 47670429 missense possibly damaging 0.67
R6754:Col17a1 UTSW 19 47650721 splice site probably null
R7028:Col17a1 UTSW 19 47652183 missense probably damaging 0.96
R7465:Col17a1 UTSW 19 47668105 nonsense probably null
R7565:Col17a1 UTSW 19 47671524 missense possibly damaging 0.77
Z1088:Col17a1 UTSW 19 47652178 missense possibly damaging 0.85
Posted On2013-12-09