Incidental Mutation 'R1774:Col18a1'
ID 196943
Institutional Source Beutler Lab
Gene Symbol Col18a1
Ensembl Gene ENSMUSG00000001435
Gene Name collagen, type XVIII, alpha 1
Synonyms endostatin
MMRRC Submission 039805-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1774 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 76888013-77002351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76895815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 901 (R901G)
Ref Sequence ENSEMBL: ENSMUSP00000080358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072755] [ENSMUST00000081654] [ENSMUST00000105409]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000072755
AA Change: R1360G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072538
Gene: ENSMUSG00000001435
AA Change: R1360G

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 damaging
Transcript: ENSMUST00000081654
AA Change: R901G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080358
Gene: ENSMUSG00000001435
AA Change: R901G

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
AA Change: R1113G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101049
Gene: ENSMUSG00000001435
AA Change: R1113G

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
Predicted Effect probably benign
Transcript: ENSMUST00000131031
SMART Domains Protein: ENSMUSP00000114884
Gene: ENSMUSG00000001436

DomainStartEndE-ValueType
Pfam:Folate_carrier 1 112 1.3e-45 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000218407
AA Change: R6G
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T C 5: 144,982,351 (GRCm39) V312A probably damaging Het
2810408A11Rik A G 11: 69,791,453 (GRCm39) V42A probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Angpt1 T A 15: 42,387,012 (GRCm39) Q114L probably damaging Het
Apc2 T C 10: 80,144,964 (GRCm39) I625T probably damaging Het
Atg2a T C 19: 6,300,628 (GRCm39) V735A probably benign Het
Birc6 T A 17: 74,947,008 (GRCm39) I2909N probably damaging Het
C7 C G 15: 5,041,557 (GRCm39) D450H probably damaging Het
Cachd1 C T 4: 100,821,632 (GRCm39) T403I probably damaging Het
Cachd1 T A 4: 100,824,240 (GRCm39) F560L probably benign Het
Cacna2d2 A T 9: 107,403,350 (GRCm39) Y944F probably benign Het
Cdkal1 C T 13: 30,034,031 (GRCm39) D21N probably damaging Het
Col27a1 C T 4: 63,143,950 (GRCm39) P546L probably damaging Het
Cps1 C T 1: 67,210,041 (GRCm39) R624W possibly damaging Het
Cyp11a1 A T 9: 57,925,643 (GRCm39) I93F probably benign Het
Cyp2c40 G C 19: 39,775,250 (GRCm39) T334R probably damaging Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
D630003M21Rik A T 2: 158,062,390 (GRCm39) D43E probably damaging Het
Ep400 C A 5: 110,833,357 (GRCm39) C1955F unknown Het
Ethe1 G A 7: 24,293,371 (GRCm39) V6I probably benign Het
F5 C A 1: 164,020,104 (GRCm39) Q860K probably benign Het
Fasn T C 11: 120,707,997 (GRCm39) Y685C probably damaging Het
Gga2 T G 7: 121,611,444 (GRCm39) D38A probably damaging Het
Gm43302 T A 5: 105,423,660 (GRCm39) I438F probably benign Het
Grm1 T A 10: 10,955,610 (GRCm39) T225S possibly damaging Het
Hic2 G T 16: 17,076,511 (GRCm39) V447L probably damaging Het
Hsf2 G A 10: 57,388,242 (GRCm39) C462Y probably damaging Het
Ice1 T C 13: 70,752,672 (GRCm39) D1138G probably damaging Het
Il6 A G 5: 30,224,433 (GRCm39) T158A probably benign Het
Inpp5d T A 1: 87,595,611 (GRCm39) V120E probably benign Het
Iqca1 T C 1: 90,008,625 (GRCm39) N456S probably benign Het
Itgal T A 7: 126,908,794 (GRCm39) probably null Het
Lrrc66 G C 5: 73,768,198 (GRCm39) Q248E probably benign Het
Lrrc7 T A 3: 157,865,929 (GRCm39) M1271L possibly damaging Het
Lrrc74a T C 12: 86,795,827 (GRCm39) S267P probably damaging Het
Map2 T C 1: 66,453,233 (GRCm39) S550P probably damaging Het
Mapk8ip3 A T 17: 25,143,119 (GRCm39) probably null Het
Mdm4 A C 1: 132,924,384 (GRCm39) S246A probably damaging Het
Med23 A G 10: 24,779,584 (GRCm39) E887G probably damaging Het
Mta1 C T 12: 113,091,659 (GRCm39) A254V probably damaging Het
Myh2 A G 11: 67,064,300 (GRCm39) Y85C possibly damaging Het
Myo1g A G 11: 6,465,988 (GRCm39) Y366H probably damaging Het
Nalcn G A 14: 123,515,678 (GRCm39) P1708S probably benign Het
Nlrp9c A T 7: 26,093,543 (GRCm39) S41T probably benign Het
Nptx2 T A 5: 144,490,248 (GRCm39) S226T possibly damaging Het
Nup85 T A 11: 115,473,771 (GRCm39) S562T probably benign Het
Nxpe5 T C 5: 138,237,797 (GRCm39) V107A probably benign Het
Obi1 A G 14: 104,717,098 (GRCm39) V425A possibly damaging Het
Oga T C 19: 45,765,423 (GRCm39) E128G probably benign Het
Or10ac1 A T 6: 42,515,453 (GRCm39) F168I probably damaging Het
Or10al7 A G 17: 38,366,328 (GRCm39) V43A probably benign Het
Or13c3 T A 4: 52,855,674 (GRCm39) I280F probably benign Het
Or6p1 A G 1: 174,258,905 (GRCm39) T304A probably benign Het
Pcdhb12 C T 18: 37,569,495 (GRCm39) P214S possibly damaging Het
Pcdhb5 T A 18: 37,455,725 (GRCm39) F702I probably damaging Het
Pcnx1 T C 12: 82,022,094 (GRCm39) F1475S probably damaging Het
Pde5a C A 3: 122,523,013 (GRCm39) T40N probably benign Het
Pnpla2 T A 7: 141,039,481 (GRCm39) V398E probably damaging Het
Pramel19 G A 4: 101,797,655 (GRCm39) V18M probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rab20 T C 8: 11,504,223 (GRCm39) K159R probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rgs12 T A 5: 35,123,747 (GRCm39) V510D probably benign Het
Slamf6 T C 1: 171,770,154 (GRCm39) probably benign Het
Slc27a5 A T 7: 12,731,534 (GRCm39) C23* probably null Het
Slc35e2 T C 4: 155,694,621 (GRCm39) V56A possibly damaging Het
Slx4ip T C 2: 136,909,643 (GRCm39) S143P probably damaging Het
Stat5a C T 11: 100,770,112 (GRCm39) S463F probably damaging Het
Svep1 T C 4: 58,146,562 (GRCm39) D360G possibly damaging Het
Tas2r143 A T 6: 42,377,305 (GRCm39) D45V probably damaging Het
Tdrd5 G T 1: 156,105,079 (GRCm39) R516S probably damaging Het
Thy1 A G 9: 43,958,636 (GRCm39) D126G probably benign Het
Tspear C T 10: 77,709,019 (GRCm39) T415I probably benign Het
Ttll5 C A 12: 85,980,176 (GRCm39) T920K probably benign Het
Tut4 T C 4: 108,365,152 (GRCm39) F542L probably damaging Het
Umod T C 7: 119,076,574 (GRCm39) E64G possibly damaging Het
Usf3 A G 16: 44,036,033 (GRCm39) N171S probably damaging Het
Vmn1r23 T A 6: 57,903,675 (GRCm39) R34S probably damaging Het
Wasf1 C G 10: 40,810,475 (GRCm39) P239R possibly damaging Het
Wdr95 C T 5: 149,487,857 (GRCm39) R164* probably null Het
Zan C A 5: 137,418,251 (GRCm39) C2949F unknown Het
Zbed4 T C 15: 88,665,080 (GRCm39) S383P probably benign Het
Zfand5 T A 19: 21,253,895 (GRCm39) C33S probably damaging Het
Zfp12 A G 5: 143,230,984 (GRCm39) Y437C probably damaging Het
Zfp451 A C 1: 33,852,849 (GRCm39) S22A 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
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
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'- ACAACCAATGTCCCTTGTCTGTGC -3'
(R):5'- TCTAATGACGCTGAGCCAAGAAACC -3'

Sequencing Primer
(F):5'- TGTGCCCAAGTTCACAGG -3'
(R):5'- TTCTCCCATGAGGAACACTGG -3'
Posted On 2014-05-23