Incidental Mutation 'R5407:Col17a1'
ID 426358
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 # R5407 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 47634783-47680460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47654946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 610 (G610E)
Ref Sequence ENSEMBL: ENSMUSP00000084141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026045] [ENSMUST00000086923]
AlphaFold Q07563
Predicted Effect probably damaging
Transcript: ENSMUST00000026045
AA Change: G610E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: G610E

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 damaging
Transcript: ENSMUST00000086923
AA Change: G610E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: G610E

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 T C 4: 144,396,895 (GRCm39) K279R probably benign Het
Aldoart2 A C 12: 55,612,981 (GRCm39) Y302S probably damaging Het
Arpp21 G T 9: 111,945,821 (GRCm39) probably benign Het
Camk1g C T 1: 193,029,680 (GRCm39) probably null Het
Cand2 G A 6: 115,762,161 (GRCm39) V196I possibly damaging Het
Cdc25b T A 2: 131,035,567 (GRCm39) L381Q probably damaging Het
Col19a1 C T 1: 24,342,575 (GRCm39) E797K probably damaging Het
Col3a1 A T 1: 45,385,212 (GRCm39) I110L probably benign Het
Col5a2 T A 1: 45,445,440 (GRCm39) D506V possibly damaging Het
Crp A T 1: 172,525,676 (GRCm39) probably null Het
Esco1 G T 18: 10,574,886 (GRCm39) H729N probably damaging Het
Evx2 A G 2: 74,488,170 (GRCm39) S217P probably damaging Het
Gabrb1 T C 5: 72,279,364 (GRCm39) V303A possibly damaging Het
Gcnt3 A G 9: 69,941,471 (GRCm39) Y366H probably benign Het
Gmpr2 A G 14: 55,915,733 (GRCm39) T304A possibly damaging Het
Golga3 C T 5: 110,349,856 (GRCm39) Q656* probably null Het
Gramd1b T A 9: 40,366,951 (GRCm39) M6L probably damaging Het
Kif17 T C 4: 138,025,532 (GRCm39) Y945H probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lrrk1 T A 7: 65,920,545 (GRCm39) Q1486L probably benign Het
Mboat7 G T 7: 3,694,380 (GRCm39) H72N probably damaging Het
Med12l G A 3: 59,165,622 (GRCm39) V1447M probably damaging Het
Mrpl3 T C 9: 104,954,294 (GRCm39) F333L probably benign Het
Nav3 T C 10: 109,702,796 (GRCm39) T246A probably benign Het
Neil3 A T 8: 54,054,054 (GRCm39) V325E probably benign Het
Nlrp4g A T 9: 124,349,930 (GRCm38) noncoding transcript Het
Onecut1 C T 9: 74,796,738 (GRCm39) S419F probably damaging Het
Or10n1 A T 9: 39,524,991 (GRCm39) I43F probably damaging Het
Ptp4a1 A T 1: 30,984,044 (GRCm39) V58E probably benign Het
Radil C T 5: 142,493,970 (GRCm39) R49H probably damaging Het
Ralgapa1 T C 12: 55,723,582 (GRCm39) E1648G possibly damaging Het
Rnft2 C T 5: 118,380,567 (GRCm39) M13I probably damaging Het
Satb2 A G 1: 56,987,309 (GRCm39) L92P probably damaging Het
Scn4a T C 11: 106,211,715 (GRCm39) Y1434C probably damaging Het
Setx T A 2: 29,035,486 (GRCm39) M657K probably benign Het
Shd A G 17: 56,280,936 (GRCm39) E204G probably damaging Het
Shh T A 5: 28,671,578 (GRCm39) R62* probably null Het
Slc9a4 A G 1: 40,646,954 (GRCm39) T483A probably benign Het
Tbc1d7 A C 13: 43,308,178 (GRCm39) S96A probably benign Het
Tfcp2 T C 15: 100,425,755 (GRCm39) probably null Het
Tlk2 T A 11: 105,131,201 (GRCm39) S182R probably damaging Het
Tppp2 A G 14: 52,156,955 (GRCm39) probably null Het
Trim65 T C 11: 116,016,906 (GRCm39) T519A probably benign Het
Trio T C 15: 27,844,892 (GRCm39) probably null Het
Usf3 G A 16: 44,037,769 (GRCm39) V750I probably benign Het
Utrn T A 10: 12,556,369 (GRCm39) K1480N probably damaging Het
Vmn1r58 T A 7: 5,413,872 (GRCm39) R119S probably benign Het
Xirp2 A G 2: 67,341,313 (GRCm39) I1185V probably benign Het
Zc3h7b A G 15: 81,670,092 (GRCm39) H654R probably damaging Het
Zfyve16 G T 13: 92,636,792 (GRCm39) A1306E probably damaging 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
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
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'- CTCTGAATGTGTCCCTAGGTC -3'
(R):5'- GCCAGGTTCTCCATCTGACATC -3'

Sequencing Primer
(F):5'- AATGTGTCCCTAGGTCTGTGCC -3'
(R):5'- GGTTCTCCATCTGACATCTCCTTTTG -3'
Posted On 2016-09-01