Incidental Mutation 'R1712:Col17a1'
ID 190726
Institutional Source Beutler Lab
Gene Symbol Col17a1
Ensembl Gene ENSMUSG00000025064
Gene Name collagen, type XVII, alpha 1
Synonyms Bpag2, BP180, BPAg2, Bpag
MMRRC Submission 039745-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1712 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 47634783-47680460 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 47637442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026043] [ENSMUST00000026045] [ENSMUST00000086923]
AlphaFold Q07563
Predicted Effect probably benign
Transcript: ENSMUST00000026043
SMART Domains Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060

DomainStartEndE-ValueType
S_TKc 34 292 3.18e-99 SMART
low complexity region 305 328 N/A INTRINSIC
low complexity region 442 452 N/A INTRINSIC
low complexity region 585 600 N/A INTRINSIC
low complexity region 690 703 N/A INTRINSIC
low complexity region 783 795 N/A INTRINSIC
Pfam:PKK 849 928 1.2e-19 PFAM
Pfam:PKK 986 1127 7.4e-49 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000026045
AA Change: Y1272C
SMART Domains Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: Y1272C

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 unknown
Transcript: ENSMUST00000086923
AA Change: Y1235C
SMART Domains Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: Y1235C

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: ENSMUST00000151102
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,678,448 (GRCm39) E12D probably damaging Het
Ahnak2 C A 12: 112,748,998 (GRCm39) R283L probably benign Het
BC005624 T C 2: 30,864,020 (GRCm39) E191G probably damaging Het
C1galt1 A G 6: 7,871,217 (GRCm39) N351S probably benign Het
Ccdc162 T C 10: 41,415,427 (GRCm39) R2179G probably benign Het
Ccdc88c G A 12: 100,905,284 (GRCm39) T1108M probably benign Het
Cd47 T C 16: 49,714,543 (GRCm39) L184P probably damaging Het
Cdc40 T C 10: 40,717,372 (GRCm39) K440E probably damaging Het
Cenpe G A 3: 134,971,694 (GRCm39) V2262I probably damaging Het
Cep290 A G 10: 100,390,361 (GRCm39) K2035E probably benign Het
Cks1brt G T 8: 85,898,172 (GRCm39) L8F probably benign Het
Coro6 A T 11: 77,360,293 (GRCm39) N421I probably benign Het
Cps1 T C 1: 67,269,440 (GRCm39) S1480P probably damaging Het
Csrnp3 G T 2: 65,832,826 (GRCm39) A110S probably damaging Het
Cyp2d10 G T 15: 82,287,240 (GRCm39) T461K probably damaging Het
Dmxl2 A G 9: 54,308,769 (GRCm39) V1994A probably benign Het
Dnah11 T A 12: 118,160,379 (GRCm39) N117I probably benign Het
Dnajc3 A G 14: 119,195,307 (GRCm39) Y74C probably damaging Het
Fam13c T A 10: 70,390,403 (GRCm39) F555I possibly damaging Het
Fbn1 T A 2: 125,188,354 (GRCm39) D1495V probably damaging Het
Fbrsl1 T C 5: 110,595,862 (GRCm39) T58A probably benign Het
Gjd3 A G 11: 102,691,706 (GRCm39) I99T possibly damaging Het
Glce T C 9: 61,977,857 (GRCm39) N9S probably damaging Het
Gosr1 T C 11: 76,641,704 (GRCm39) T125A possibly damaging Het
Ifi27l2a T A 12: 103,406,202 (GRCm39) probably null Het
Jph1 C T 1: 17,167,456 (GRCm39) D125N possibly damaging Het
Kbtbd12 A T 6: 88,595,676 (GRCm39) S51R probably damaging Het
Klra9 A T 6: 130,166,659 (GRCm39) probably null Het
Kmo A T 1: 175,484,289 (GRCm39) M340L probably benign Het
Lama1 T C 17: 68,024,181 (GRCm39) I93T possibly damaging Het
Limk2 A T 11: 3,308,104 (GRCm39) probably null Het
Mgat5 C A 1: 127,248,375 (GRCm39) N92K probably benign Het
Mib2 T A 4: 155,739,256 (GRCm39) I908F probably damaging Het
Mical1 T G 10: 41,356,359 (GRCm39) L304R probably damaging Het
Mtbp G T 15: 55,434,690 (GRCm39) probably null Het
Myo3a T C 2: 22,455,004 (GRCm39) Y70H probably damaging Het
Neb T C 2: 52,133,401 (GRCm39) Y3379C probably damaging Het
Neurod2 G T 11: 98,218,029 (GRCm39) N378K probably damaging Het
Oog4 G A 4: 143,166,484 (GRCm39) L107F probably damaging Het
Or2g25 A G 17: 37,970,799 (GRCm39) S142P probably benign Het
Or4k40 T A 2: 111,251,003 (GRCm39) M98L probably benign Het
Or6x1 A G 9: 40,099,161 (GRCm39) Y250C probably damaging Het
Or8k20 T A 2: 86,106,337 (GRCm39) T165S probably damaging Het
Pfdn6 T C 17: 34,158,528 (GRCm39) Y82C probably damaging Het
Pla2g4d C A 2: 120,107,971 (GRCm39) A313S possibly damaging Het
Ptcd3 C A 6: 71,885,637 (GRCm39) E30* probably null Het
Rai1 A G 11: 60,078,428 (GRCm39) T831A probably benign Het
Rims1 G A 1: 22,367,172 (GRCm39) T1176M probably damaging Het
Rin1 A C 19: 5,105,171 (GRCm39) I744L probably benign Het
Rora T A 9: 69,282,771 (GRCm39) S430T probably benign Het
Rsph10b T A 5: 143,873,967 (GRCm39) S23T probably damaging Het
Ryr1 T C 7: 28,746,928 (GRCm39) N3773S probably benign Het
Scn4a A G 11: 106,230,180 (GRCm39) Y543H probably damaging Het
Scn4a C A 11: 106,236,373 (GRCm39) G296C probably benign Het
Scn7a T C 2: 66,535,447 (GRCm39) T435A probably benign Het
Shank2 G T 7: 143,964,890 (GRCm39) D833Y probably damaging Het
Slc9a2 T C 1: 40,802,770 (GRCm39) S607P possibly damaging Het
Slx4 G A 16: 3,809,458 (GRCm39) R346W probably damaging Het
Spata20 A T 11: 94,371,340 (GRCm39) C675S probably benign Het
Suclg2 A T 6: 95,563,997 (GRCm39) I196N probably damaging Het
Sv2b G A 7: 74,798,807 (GRCm39) H272Y possibly damaging Het
Svep1 T C 4: 58,070,629 (GRCm39) I2386V probably benign Het
Taf13 A T 3: 108,488,445 (GRCm39) E109D possibly damaging Het
Tanc2 A G 11: 105,790,606 (GRCm39) T976A probably benign Het
Tax1bp1 A G 6: 52,706,311 (GRCm39) Y104C probably damaging Het
Tfeb T C 17: 48,099,911 (GRCm39) probably null Het
Tlr9 T C 9: 106,101,248 (GRCm39) Y180H probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttc12 T A 9: 49,356,499 (GRCm39) T510S probably benign Het
Ubqln1 T C 13: 58,339,895 (GRCm39) E280G probably damaging Het
Urm1 T C 2: 29,731,437 (GRCm39) W44R probably damaging Het
Usp32 A T 11: 84,933,406 (GRCm39) I34N probably benign Het
Vars1 T C 17: 35,233,728 (GRCm39) L1018P probably damaging Het
Vcan A T 13: 89,869,894 (GRCm39) V206D probably damaging Het
Vim T C 2: 13,583,270 (GRCm39) V224A probably damaging Het
Vmn2r106 G T 17: 20,498,997 (GRCm39) H305N probably benign Het
Vmn2r78 A G 7: 86,604,132 (GRCm39) N770S probably damaging Het
Wdr33 T A 18: 32,029,684 (GRCm39) L961Q unknown Het
Xylt2 A G 11: 94,559,575 (GRCm39) S356P possibly damaging Het
Zbtb14 A G 17: 69,694,575 (GRCm39) N91S probably damaging Het
Zc3h6 T C 2: 128,858,654 (GRCm39) L895S probably damaging Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfp131 T C 13: 120,228,079 (GRCm39) T523A 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
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
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
Predicted Primers PCR Primer
(F):5'- CGCACTGCCAGCTTGTTGTAATC -3'
(R):5'- CAAGGGCCTCAAAGGTCACTCTAAG -3'

Sequencing Primer
(F):5'- TAGGTCTCCAGTGAAGCCATC -3'
(R):5'- CTCTAAGGGGTGTTAAAACTCCAG -3'
Posted On 2014-05-14