Incidental Mutation 'R6280:Col18a1'
ID 507913
Institutional Source Beutler Lab
Gene Symbol Col18a1
Ensembl Gene ENSMUSG00000001435
Gene Name collagen, type XVIII, alpha 1
Synonyms endostatin
MMRRC Submission 044450-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6280 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 76888013-77002351 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 76948323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072755] [ENSMUST00000081654] [ENSMUST00000105409]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000072755
AA Change: H396Q
SMART Domains Protein: ENSMUSP00000072538
Gene: ENSMUSG00000001435
AA Change: H396Q

DomainStartEndE-ValueType
Pfam:DUF959 16 218 6.8e-104 PFAM
low complexity region 295 307 N/A INTRINSIC
FRI 369 484 4.03e-47 SMART
TSPN 492 680 4.25e-72 SMART
LamG 541 679 2.17e-2 SMART
low complexity region 699 715 N/A INTRINSIC
low complexity region 719 734 N/A INTRINSIC
low complexity region 739 751 N/A INTRINSIC
Pfam:Collagen 820 881 5.5e-11 PFAM
low complexity region 921 942 N/A INTRINSIC
Pfam:Collagen 951 1008 6.1e-10 PFAM
Pfam:Collagen 988 1053 1.4e-8 PFAM
Pfam:Collagen 1060 1117 7.3e-10 PFAM
low complexity region 1132 1147 N/A INTRINSIC
low complexity region 1166 1181 N/A INTRINSIC
low complexity region 1186 1202 N/A INTRINSIC
Pfam:Collagen 1207 1267 8.2e-10 PFAM
low complexity region 1275 1288 N/A INTRINSIC
low complexity region 1301 1319 N/A INTRINSIC
low complexity region 1358 1393 N/A INTRINSIC
low complexity region 1397 1414 N/A INTRINSIC
low complexity region 1417 1433 N/A INTRINSIC
low complexity region 1441 1454 N/A INTRINSIC
Pfam:Endostatin 1461 1769 4.4e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081654
SMART Domains Protein: ENSMUSP00000080358
Gene: ENSMUSG00000001435

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
TSPN 33 221 4.25e-72 SMART
LamG 82 220 2.17e-2 SMART
low complexity region 240 256 N/A INTRINSIC
low complexity region 260 275 N/A INTRINSIC
low complexity region 280 292 N/A INTRINSIC
Pfam:Collagen 359 422 1.6e-10 PFAM
low complexity region 462 483 N/A INTRINSIC
Pfam:Collagen 492 549 1.6e-9 PFAM
Pfam:Collagen 529 594 3.3e-8 PFAM
Pfam:Collagen 601 658 1.9e-9 PFAM
Pfam:Collagen 631 689 4e-8 PFAM
Pfam:Collagen 701 752 1.7e-7 PFAM
Pfam:Collagen 748 808 2.2e-9 PFAM
low complexity region 816 829 N/A INTRINSIC
low complexity region 842 860 N/A INTRINSIC
low complexity region 899 934 N/A INTRINSIC
low complexity region 938 955 N/A INTRINSIC
low complexity region 958 974 N/A INTRINSIC
low complexity region 982 995 N/A INTRINSIC
Pfam:Endostatin 999 1315 8.2e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105409
SMART Domains Protein: ENSMUSP00000101049
Gene: ENSMUSG00000001435

DomainStartEndE-ValueType
Pfam:DUF959 16 219 3.6e-100 PFAM
TSPN 245 433 4.25e-72 SMART
LamG 294 432 2.17e-2 SMART
low complexity region 452 468 N/A INTRINSIC
low complexity region 472 487 N/A INTRINSIC
low complexity region 492 504 N/A INTRINSIC
low complexity region 542 613 N/A INTRINSIC
low complexity region 630 648 N/A INTRINSIC
low complexity region 674 695 N/A INTRINSIC
Pfam:Collagen 700 761 5.4e-9 PFAM
Pfam:Collagen 741 806 4e-8 PFAM
Pfam:Collagen 813 874 2.1e-10 PFAM
Pfam:Collagen 846 901 1.2e-7 PFAM
Pfam:Collagen 913 964 2.1e-7 PFAM
Pfam:Collagen 960 1020 2.6e-9 PFAM
low complexity region 1028 1041 N/A INTRINSIC
low complexity region 1054 1072 N/A INTRINSIC
low complexity region 1111 1146 N/A INTRINSIC
low complexity region 1150 1167 N/A INTRINSIC
low complexity region 1170 1186 N/A INTRINSIC
low complexity region 1194 1207 N/A INTRINSIC
Pfam:Endostatin 1211 1527 1.1e-150 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,311,619 (GRCm39) D1930N probably benign Het
Adam8 A G 7: 139,564,720 (GRCm39) L667S probably damaging Het
Adcy4 A T 14: 56,016,500 (GRCm39) I317N probably damaging Het
Agpat3 A G 10: 78,120,872 (GRCm39) F102S probably damaging Het
Apbb2 A T 5: 66,522,325 (GRCm39) W443R probably damaging Het
BC049715 T A 6: 136,817,229 (GRCm39) Y156* probably null Het
Bpifc C T 10: 85,813,576 (GRCm39) V323I probably benign Het
Camp T G 9: 109,676,577 (GRCm39) I149L probably benign Het
Cfap20dc T G 14: 8,473,414 (GRCm38) probably null Het
Cibar2 A G 8: 120,898,858 (GRCm39) I94T possibly damaging Het
Cnih1 A G 14: 47,025,634 (GRCm39) probably null Het
Dsg4 A T 18: 20,599,724 (GRCm39) D780V probably damaging Het
Dync1i1 G A 6: 5,972,084 (GRCm39) V442I probably benign Het
Fam83g G T 11: 61,594,008 (GRCm39) S514I probably benign Het
Fbxo7 A G 10: 85,864,969 (GRCm39) N93D probably benign Het
Fgf20 G T 8: 40,734,153 (GRCm39) S76* probably null Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Fxr1 G A 3: 34,100,401 (GRCm39) probably benign Het
Gon4l T A 3: 88,798,195 (GRCm39) L800H probably damaging Het
Gpn3 T A 5: 122,512,022 (GRCm39) S33T probably benign Het
Gria4 T C 9: 4,456,072 (GRCm39) M743V probably damaging Het
Hira A G 16: 18,729,457 (GRCm39) N109D probably damaging Het
Hsd3b3 A G 3: 98,660,621 (GRCm39) probably null Het
Hsf2 T G 10: 57,387,591 (GRCm39) S370A probably benign Het
Htt T A 5: 35,028,103 (GRCm39) D1786E probably benign Het
Ifit1bl2 T A 19: 34,597,534 (GRCm39) R27S possibly damaging Het
Il17rb G A 14: 29,724,928 (GRCm39) A186V probably benign Het
Irak4 G T 15: 94,449,691 (GRCm39) E57* probably null Het
Kcnh2 T A 5: 24,536,921 (GRCm39) H221L probably benign Het
Kdm2b T C 5: 123,016,687 (GRCm39) N1149D probably damaging Het
Kif26a A G 12: 112,141,303 (GRCm39) H702R probably damaging Het
Kmt2e T C 5: 23,704,514 (GRCm39) S1236P possibly damaging Het
Krt77 T A 15: 101,773,910 (GRCm39) D248V probably damaging Het
Lgals3bp T C 11: 118,284,106 (GRCm39) N52S possibly damaging Het
Lhfpl6 T C 3: 53,167,935 (GRCm39) Y170H probably damaging Het
Lpin2 A G 17: 71,539,243 (GRCm39) probably benign Het
Lrig3 T C 10: 125,846,848 (GRCm39) I872T probably benign Het
Lrit3 T C 3: 129,582,412 (GRCm39) E525G probably damaging Het
Lrp1 T C 10: 127,425,453 (GRCm39) T726A probably benign Het
Mep1a A T 17: 43,813,283 (GRCm39) N46K probably damaging Het
Muc16 C A 9: 18,490,613 (GRCm39) probably null Het
N4bp1 A C 8: 87,579,794 (GRCm39) N669K possibly damaging Het
Nelfcd A G 2: 174,257,739 (GRCm39) D26G probably benign Het
Neu4 G A 1: 93,952,873 (GRCm39) S414N probably damaging Het
Nudt9 A G 5: 104,212,935 (GRCm39) D336G probably benign Het
Obscn C A 11: 58,954,509 (GRCm39) G3691V possibly damaging Het
Or4c52 A C 2: 89,845,393 (GRCm39) I40L possibly damaging Het
Or5t17 A G 2: 86,832,364 (GRCm39) N17S probably damaging Het
Pdgfd T A 9: 6,288,627 (GRCm39) S94T probably benign Het
Picalm A G 7: 89,826,770 (GRCm39) H290R probably benign Het
Pou2f3 A T 9: 43,050,634 (GRCm39) L242Q probably damaging Het
Pou2f3 G T 9: 43,050,635 (GRCm39) L242M probably damaging Het
Prkd3 C T 17: 79,289,360 (GRCm39) G187D probably damaging Het
Pwp1 A G 10: 85,710,326 (GRCm39) S49G probably damaging Het
Ralgapa2 A G 2: 146,184,129 (GRCm39) L1626P probably damaging Het
Resf1 T C 6: 149,228,555 (GRCm39) S534P probably damaging Het
Rin2 A G 2: 145,702,939 (GRCm39) Y545C probably damaging Het
Rwdd4a A G 8: 47,995,832 (GRCm39) T71A probably benign Het
Senp7 T C 16: 55,982,738 (GRCm39) F504L possibly damaging Het
Slc12a6 A G 2: 112,167,703 (GRCm39) T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc34a1 A G 13: 24,006,377 (GRCm39) S468G probably benign Het
Slc4a10 A G 2: 62,112,310 (GRCm39) N697S probably benign Het
Spint1 T A 2: 119,075,759 (GRCm39) V194E possibly damaging Het
Sptlc2 A T 12: 87,434,905 (GRCm39) M14K probably benign Het
Stard9 A G 2: 120,531,608 (GRCm39) K2622E probably benign Het
Tbc1d5 T C 17: 51,089,338 (GRCm39) N614S probably benign Het
Tdpoz2 A T 3: 93,559,190 (GRCm39) C261S probably benign Het
Tmem150b A T 7: 4,727,373 (GRCm39) I44N probably benign Het
Ttn A G 2: 76,608,502 (GRCm39) L17807P probably damaging Het
Vcan G A 13: 89,873,492 (GRCm39) R121W probably damaging Het
Vmn2r15 T A 5: 109,441,291 (GRCm39) H189L possibly damaging Het
Vmn2r19 A G 6: 123,313,212 (GRCm39) S761G probably benign Het
Wdr11 A T 7: 129,200,830 (GRCm39) K34* probably null Het
Zfp120 A T 2: 149,959,964 (GRCm39) S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 (GRCm39) P740A probably benign Het
Other mutations in Col18a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Col18a1 APN 10 76,905,813 (GRCm39) missense possibly damaging 0.93
IGL01023:Col18a1 APN 10 76,906,809 (GRCm39) missense probably damaging 0.98
IGL01304:Col18a1 APN 10 76,911,975 (GRCm39) unclassified probably benign
IGL01519:Col18a1 APN 10 76,895,157 (GRCm39) missense probably damaging 0.99
IGL02217:Col18a1 APN 10 76,889,132 (GRCm39) missense probably damaging 0.96
IGL02275:Col18a1 APN 10 76,895,217 (GRCm39) missense possibly damaging 0.92
IGL02283:Col18a1 APN 10 76,948,943 (GRCm39) missense possibly damaging 0.71
IGL02492:Col18a1 APN 10 76,907,855 (GRCm39) splice site probably benign
IGL02673:Col18a1 APN 10 76,894,997 (GRCm39) missense probably damaging 1.00
IGL02710:Col18a1 APN 10 76,949,146 (GRCm39) missense possibly damaging 0.92
IGL02850:Col18a1 APN 10 76,932,300 (GRCm39) missense probably damaging 0.98
IGL03085:Col18a1 APN 10 76,895,015 (GRCm39) splice site probably benign
IGL03102:Col18a1 APN 10 76,903,457 (GRCm39) splice site probably benign
IGL03139:Col18a1 APN 10 76,949,177 (GRCm39) missense possibly damaging 0.84
IGL03181:Col18a1 APN 10 76,891,532 (GRCm39) missense probably damaging 1.00
IGL03183:Col18a1 APN 10 76,909,588 (GRCm39) missense probably damaging 1.00
R0039:Col18a1 UTSW 10 76,913,002 (GRCm39) missense probably damaging 1.00
R0180:Col18a1 UTSW 10 76,932,351 (GRCm39) missense probably benign 0.33
R0225:Col18a1 UTSW 10 76,924,748 (GRCm39) missense possibly damaging 0.90
R0335:Col18a1 UTSW 10 76,895,197 (GRCm39) missense probably damaging 0.99
R0336:Col18a1 UTSW 10 76,894,570 (GRCm39) missense probably damaging 1.00
R1471:Col18a1 UTSW 10 76,932,040 (GRCm39) missense unknown
R1538:Col18a1 UTSW 10 76,907,170 (GRCm39) missense probably damaging 1.00
R1594:Col18a1 UTSW 10 76,948,870 (GRCm39) missense possibly damaging 0.51
R1631:Col18a1 UTSW 10 76,895,131 (GRCm39) missense probably damaging 0.99
R1774:Col18a1 UTSW 10 76,895,815 (GRCm39) missense probably damaging 0.96
R1934:Col18a1 UTSW 10 76,948,578 (GRCm39) missense possibly damaging 0.73
R1990:Col18a1 UTSW 10 76,916,988 (GRCm39) missense unknown
R1991:Col18a1 UTSW 10 76,916,988 (GRCm39) missense unknown
R1992:Col18a1 UTSW 10 76,916,988 (GRCm39) missense unknown
R2081:Col18a1 UTSW 10 76,890,019 (GRCm39) missense probably damaging 1.00
R2082:Col18a1 UTSW 10 76,895,127 (GRCm39) missense probably damaging 1.00
R2351:Col18a1 UTSW 10 76,948,538 (GRCm39) missense probably benign 0.00
R2510:Col18a1 UTSW 10 76,932,102 (GRCm39) missense unknown
R3076:Col18a1 UTSW 10 76,924,762 (GRCm39) missense possibly damaging 0.57
R3433:Col18a1 UTSW 10 76,932,102 (GRCm39) missense unknown
R3800:Col18a1 UTSW 10 76,903,221 (GRCm39) nonsense probably null
R3918:Col18a1 UTSW 10 76,889,192 (GRCm39) missense probably benign 0.05
R3981:Col18a1 UTSW 10 76,924,721 (GRCm39) missense probably damaging 0.99
R3983:Col18a1 UTSW 10 76,924,721 (GRCm39) missense probably damaging 0.99
R4182:Col18a1 UTSW 10 76,894,675 (GRCm39) splice site probably null
R4239:Col18a1 UTSW 10 76,932,001 (GRCm39) missense unknown
R5014:Col18a1 UTSW 10 76,906,794 (GRCm39) critical splice donor site probably null
R5107:Col18a1 UTSW 10 76,913,057 (GRCm39) critical splice acceptor site probably null
R5413:Col18a1 UTSW 10 76,905,310 (GRCm39) missense probably damaging 1.00
R5503:Col18a1 UTSW 10 76,907,454 (GRCm39) missense probably damaging 1.00
R5524:Col18a1 UTSW 10 76,894,558 (GRCm39) missense probably damaging 1.00
R5772:Col18a1 UTSW 10 77,002,177 (GRCm39) missense unknown
R5958:Col18a1 UTSW 10 76,932,231 (GRCm39) missense probably benign 0.01
R6309:Col18a1 UTSW 10 76,948,576 (GRCm39) intron probably benign
R6603:Col18a1 UTSW 10 76,899,811 (GRCm39) critical splice donor site probably null
R6608:Col18a1 UTSW 10 76,948,628 (GRCm39) intron probably benign
R6805:Col18a1 UTSW 10 76,890,073 (GRCm39) missense probably damaging 1.00
R6890:Col18a1 UTSW 10 76,949,318 (GRCm39) intron probably benign
R6938:Col18a1 UTSW 10 76,948,333 (GRCm39) intron probably benign
R7002:Col18a1 UTSW 10 77,002,177 (GRCm39) missense unknown
R7154:Col18a1 UTSW 10 76,908,799 (GRCm39) missense probably benign 0.25
R7204:Col18a1 UTSW 10 76,921,110 (GRCm39) missense unknown
R7278:Col18a1 UTSW 10 76,932,118 (GRCm39) missense unknown
R7442:Col18a1 UTSW 10 76,932,072 (GRCm39) missense unknown
R7453:Col18a1 UTSW 10 76,921,044 (GRCm39) splice site probably null
R7597:Col18a1 UTSW 10 76,949,137 (GRCm39) missense unknown
R7615:Col18a1 UTSW 10 76,902,839 (GRCm39) missense probably damaging 1.00
R7671:Col18a1 UTSW 10 76,921,217 (GRCm39) missense unknown
R7696:Col18a1 UTSW 10 76,921,106 (GRCm39) missense unknown
R7719:Col18a1 UTSW 10 76,913,846 (GRCm39) missense probably benign 0.13
R7772:Col18a1 UTSW 10 76,904,220 (GRCm39) splice site probably null
R8077:Col18a1 UTSW 10 76,916,685 (GRCm39) missense unknown
R8085:Col18a1 UTSW 10 76,924,741 (GRCm39) missense unknown
R8097:Col18a1 UTSW 10 76,948,342 (GRCm39) missense unknown
R8117:Col18a1 UTSW 10 76,895,808 (GRCm39) missense probably benign 0.41
R8130:Col18a1 UTSW 10 76,910,284 (GRCm39) missense probably benign 0.03
R8151:Col18a1 UTSW 10 76,948,418 (GRCm39) missense unknown
R8379:Col18a1 UTSW 10 76,889,072 (GRCm39) missense probably benign 0.08
R8479:Col18a1 UTSW 10 76,916,988 (GRCm39) missense unknown
R8523:Col18a1 UTSW 10 76,890,068 (GRCm39) missense probably damaging 0.99
R8862:Col18a1 UTSW 10 76,949,044 (GRCm39) nonsense probably null
R9109:Col18a1 UTSW 10 76,893,204 (GRCm39) missense probably damaging 1.00
R9298:Col18a1 UTSW 10 76,893,204 (GRCm39) missense probably damaging 1.00
R9312:Col18a1 UTSW 10 76,894,606 (GRCm39) missense probably damaging 0.98
R9366:Col18a1 UTSW 10 76,932,258 (GRCm39) missense unknown
R9399:Col18a1 UTSW 10 76,916,584 (GRCm39) missense unknown
R9559:Col18a1 UTSW 10 76,913,630 (GRCm39) missense probably damaging 1.00
R9649:Col18a1 UTSW 10 76,916,673 (GRCm39) missense unknown
R9689:Col18a1 UTSW 10 76,916,578 (GRCm39) nonsense probably null
R9719:Col18a1 UTSW 10 76,949,432 (GRCm39) missense unknown
Z1176:Col18a1 UTSW 10 76,948,685 (GRCm39) missense unknown
Z1176:Col18a1 UTSW 10 76,891,543 (GRCm39) missense possibly damaging 0.81
Z1177:Col18a1 UTSW 10 76,948,672 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGTCCCCAGCTAGGTAGTTC -3'
(R):5'- GTAGCAGCTTTACCTGGGTTCC -3'

Sequencing Primer
(F):5'- CAGCTAGGTAGTTCCAACATTCG -3'
(R):5'- CCTGGTACTTGGGTTTCGCAC -3'
Posted On 2018-03-15