Incidental Mutation 'IGL03181:Col18a1'
ID 412226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col18a1
Ensembl Gene ENSMUSG00000001435
Gene Name collagen, type XVIII, alpha 1
Synonyms endostatin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03181
Quality Score
Status
Chromosome 10
Chromosomal Location 76888013-77002351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76891532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1560 (R1560C)
Ref Sequence ENSEMBL: ENSMUSP00000072538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072755] [ENSMUST00000081654] [ENSMUST00000105409]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000072755
AA Change: R1560C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072538
Gene: ENSMUSG00000001435
AA Change: R1560C

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 possibly damaging
Transcript: ENSMUST00000081654
AA Change: R1101C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080358
Gene: ENSMUSG00000001435
AA Change: R1101C

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 damaging
Transcript: ENSMUST00000105409
AA Change: R1313C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101049
Gene: ENSMUSG00000001435
AA Change: R1313C

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: R195C
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C 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
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
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
Posted On 2016-08-02