Incidental Mutation 'R6608:Col18a1'
ID 525781
Institutional Source Beutler Lab
Gene Symbol Col18a1
Ensembl Gene ENSMUSG00000001435
Gene Name collagen, type XVIII, alpha 1
Synonyms endostatin
MMRRC Submission 044731-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6608 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 76888013-77002351 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 76948628 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: V295I
SMART Domains Protein: ENSMUSP00000072538
Gene: ENSMUSG00000001435
AA Change: V295I

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 98% (43/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,770,555 (GRCm39) T571A probably benign Het
Adamts18 A T 8: 114,501,911 (GRCm39) Y317N probably damaging Het
Adgrg5 T C 8: 95,668,348 (GRCm39) F470S probably damaging Het
AK157302 T C 13: 21,679,794 (GRCm39) S107P probably damaging Het
Ankrd31 A G 13: 96,969,288 (GRCm39) Y975C probably damaging Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Aox1 T C 1: 58,096,705 (GRCm39) Y267H probably benign Het
Cdan1 A C 2: 120,557,161 (GRCm39) I555R possibly damaging Het
Clns1a A G 7: 97,365,675 (GRCm39) T226A probably benign Het
Col5a3 C A 9: 20,685,315 (GRCm39) V1454L unknown Het
Coq6 G A 12: 84,418,922 (GRCm39) V309I probably benign Het
Decr2 C T 17: 26,302,858 (GRCm39) V173M probably benign Het
Dmgdh G A 13: 93,843,252 (GRCm39) G363S possibly damaging Het
Dnah7a A T 1: 53,564,277 (GRCm39) D1927E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epm2a T C 10: 11,266,731 (GRCm39) probably null Het
Gm1979 T A 5: 26,206,094 (GRCm39) H162L probably benign Het
Irag1 A T 7: 110,487,758 (GRCm39) S486T probably damaging Het
Knl1 A G 2: 118,917,093 (GRCm39) N1759D probably damaging Het
Man1b1 T A 2: 25,233,263 (GRCm39) V212E probably damaging Het
Marf1 A G 16: 13,950,578 (GRCm39) L936S probably damaging Het
Mki67 G A 7: 135,300,090 (GRCm39) T1648I probably benign Het
Or2n1c T C 17: 38,519,370 (GRCm39) V78A probably damaging Het
Or3a1b T C 11: 74,012,454 (GRCm39) V113A probably benign Het
Or5d40 A G 2: 88,016,049 (GRCm39) Y276C possibly damaging Het
Or6n2 A G 1: 173,897,295 (GRCm39) M144V probably benign Het
Parp11 A G 6: 127,454,811 (GRCm39) I110V possibly damaging Het
Pcdhb5 A G 18: 37,454,876 (GRCm39) T419A probably damaging Het
Pitpnm1 A G 19: 4,160,875 (GRCm39) D838G probably damaging Het
Rbm26 T A 14: 105,389,934 (GRCm39) N230I probably damaging Het
Rnf20 C T 4: 49,650,051 (GRCm39) S540F probably benign Het
Rsad1 T C 11: 94,433,435 (GRCm39) D417G probably damaging Het
Serpina3c A T 12: 104,115,883 (GRCm39) N220K probably benign Het
Slc6a19 A G 13: 73,832,091 (GRCm39) L495P probably damaging Het
Stard7 A T 2: 127,132,715 (GRCm39) K194N probably damaging Het
Tinagl1 A G 4: 130,066,782 (GRCm39) M105T probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Usp10 C T 8: 120,675,161 (GRCm39) R461W probably benign Het
Wsb1 C T 11: 79,131,188 (GRCm39) E403K probably benign Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zp1 C T 19: 10,896,344 (GRCm39) C127Y possibly damaging Het
Zzef1 T A 11: 72,803,652 (GRCm39) F2466L probably damaging 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
R6280:Col18a1 UTSW 10 76,948,323 (GRCm39) intron probably benign
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
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'- CTAAACGGCTGCAGAGAGTC -3'
(R):5'- TTCCCAGGTAGAGCATTTCTC -3'

Sequencing Primer
(F):5'- TAGAGGTCAGAGAGCCGTTTCC -3'
(R):5'- CTCTTCTCCACGGATCAGGG -3'
Posted On 2018-06-22