Incidental Mutation 'R3608:Col17a1'
ID 269173
Institutional Source Beutler Lab
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 # R3608 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 47634783-47680460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 47668844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 127 (L127F)
Ref Sequence ENSEMBL: ENSMUSP00000084141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026045] [ENSMUST00000086923]
AlphaFold Q07563
Predicted Effect probably benign
Transcript: ENSMUST00000026045
AA Change: L127F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: L127F

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 probably benign
Transcript: ENSMUST00000086923
AA Change: L127F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: L127F

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.1%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B3gnt4 C A 5: 123,648,838 (GRCm39) R68S probably damaging Het
Brf1 A G 12: 112,924,894 (GRCm39) L610P probably benign Het
Cacna1e T A 1: 154,291,831 (GRCm39) R1783S probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
CK137956 A T 4: 127,845,119 (GRCm39) I208N probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dlgap4 C T 2: 156,590,332 (GRCm39) probably benign Het
Ect2l A T 10: 18,018,688 (GRCm39) N619K possibly damaging Het
Hamp2 T C 7: 30,623,539 (GRCm39) T8A probably benign Het
Lamb1 T A 12: 31,337,909 (GRCm39) N407K probably damaging Het
Lrrc32 C T 7: 98,148,393 (GRCm39) T391M probably benign Het
Mroh2a G T 1: 88,172,717 (GRCm39) A829S probably damaging Het
Ncoa1 T C 12: 4,328,186 (GRCm39) N884S probably benign Het
Neil1 T C 9: 57,051,485 (GRCm39) T278A probably damaging Het
Pcnx2 T C 8: 126,614,840 (GRCm39) T204A probably benign Het
Psmc3 T A 2: 90,884,925 (GRCm39) D30E probably benign Het
Rtkn T A 6: 83,127,016 (GRCm39) C328S probably damaging Het
Speer4f2 C A 5: 17,579,492 (GRCm39) T97K probably benign Het
Srd5a2 A G 17: 74,334,026 (GRCm39) V131A probably benign Het
Tm9sf4 A G 2: 153,020,897 (GRCm39) H35R probably benign Het
Ubr2 G T 17: 47,255,449 (GRCm39) D1412E probably damaging Het
Vmn2r95 G A 17: 18,660,235 (GRCm39) V216I possibly damaging Het
Ypel1 A T 16: 16,910,154 (GRCm39) C126* probably null 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
IGL03409:Col17a1 APN 19 47,654,979 (GRCm39) missense possibly damaging 0.79
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
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
Predicted Primers PCR Primer
(F):5'- GGCAGCCACTCTTAAGATGC -3'
(R):5'- TGGTGTCCACAGTTGAAATAGG -3'

Sequencing Primer
(F):5'- GCCACTCTTAAGATGCTTCAGAGTG -3'
(R):5'- GTGTCCACAGTTGAAATAGGAAACTC -3'
Posted On 2015-02-19