Incidental Mutation 'IGL03189:Col20a1'
ID 412586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col20a1
Ensembl Gene ENSMUSG00000016356
Gene Name collagen, type XX, alpha 1
Synonyms 1700051I12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03189
Quality Score
Status
Chromosome 2
Chromosomal Location 180628328-180660156 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 180651200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 1089 (Q1089*)
Ref Sequence ENSEMBL: ENSMUSP00000153871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108856] [ENSMUST00000149179] [ENSMUST00000228434]
AlphaFold Q923P0
Predicted Effect probably null
Transcript: ENSMUST00000108856
AA Change: Q1131*
SMART Domains Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: Q1131*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FN3 24 103 2.18e1 SMART
VWA 175 354 4.68e-55 SMART
FN3 375 453 6.2e-7 SMART
FN3 464 543 7.34e-9 SMART
FN3 555 633 8.18e-7 SMART
FN3 644 723 8.98e-4 SMART
FN3 738 817 1.43e-11 SMART
TSPN 840 1035 6.45e-31 SMART
Pfam:Collagen 1067 1125 3.8e-9 PFAM
Pfam:Collagen 1122 1174 7.4e-9 PFAM
Pfam:Collagen 1165 1223 3e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000149179
AA Change: Q1089*
SMART Domains Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: Q1089*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FN3 24 103 2.18e1 SMART
VWA 175 354 4.68e-55 SMART
FN3 375 453 6.2e-7 SMART
FN3 464 543 7.34e-9 SMART
FN3 555 633 8.18e-7 SMART
FN3 644 723 8.98e-4 SMART
FN3 738 817 1.43e-11 SMART
TSPN 840 1035 6.45e-31 SMART
low complexity region 1069 1106 N/A INTRINSIC
low complexity region 1108 1121 N/A INTRINSIC
low complexity region 1136 1155 N/A INTRINSIC
Blast:TSPN 1156 1202 2e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000155425
SMART Domains Protein: ENSMUSP00000114654
Gene: ENSMUSG00000016356

DomainStartEndE-ValueType
Pfam:Collagen 1 55 4.9e-12 PFAM
Pfam:Collagen 36 94 2.2e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000228434
AA Change: Q1089*
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,895,814 (GRCm39) T916A probably benign Het
Adam22 A T 5: 8,161,897 (GRCm39) Y50* probably null Het
Adprs T C 4: 126,211,087 (GRCm39) probably benign Het
Ahnak G A 19: 8,988,603 (GRCm39) V3296M possibly damaging Het
Bfar A G 16: 13,505,365 (GRCm39) D125G possibly damaging Het
Bmp3 A T 5: 99,020,579 (GRCm39) Q334L probably benign Het
Camsap2 A T 1: 136,209,400 (GRCm39) D697E probably damaging Het
Car11 A G 7: 45,351,879 (GRCm39) T103A probably damaging Het
Cecr2 T A 6: 120,739,391 (GRCm39) S1373T probably benign Het
Cenpm A G 15: 82,118,634 (GRCm39) V160A possibly damaging Het
Chl1 A T 6: 103,660,168 (GRCm39) I365F possibly damaging Het
Csf1r A T 18: 61,239,058 (GRCm39) T13S probably benign Het
Fam13a T C 6: 58,933,843 (GRCm39) E249G probably damaging Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fhdc1 G A 3: 84,362,368 (GRCm39) probably benign Het
Fn3krp T C 11: 121,320,456 (GRCm39) I267T probably damaging Het
Fras1 A T 5: 96,890,930 (GRCm39) I2820F probably benign Het
Fyb2 A G 4: 104,872,939 (GRCm39) I771V probably damaging Het
Gata3os A G 2: 9,888,634 (GRCm39) probably benign Het
Glis1 A G 4: 107,472,248 (GRCm39) Y275C probably damaging Het
Hdgf A G 3: 87,820,735 (GRCm39) T62A possibly damaging Het
Hsd17b3 C T 13: 64,210,901 (GRCm39) probably null Het
Ift56 C T 6: 38,402,166 (GRCm39) P553S probably benign Het
Iqgap1 T A 7: 80,363,590 (GRCm39) Y1655F probably benign Het
Izumo1 A G 7: 45,274,588 (GRCm39) D181G probably damaging Het
Lrp2 T C 2: 69,268,822 (GRCm39) probably benign Het
Mark1 T C 1: 184,651,890 (GRCm39) N95S probably damaging Het
Mbd5 A G 2: 49,147,763 (GRCm39) K658E probably damaging Het
Mcm6 C T 1: 128,272,039 (GRCm39) D453N probably damaging Het
Mfsd14a T C 3: 116,435,504 (GRCm39) D187G probably benign Het
Mrpl19 G T 6: 81,938,974 (GRCm39) S276* probably null Het
Ncoa2 G A 1: 13,260,360 (GRCm39) T105M probably damaging Het
Nop14 A G 5: 34,807,972 (GRCm39) probably benign Het
Or2ah1 A G 2: 85,653,902 (GRCm39) T196A probably benign Het
Or2aj5 T C 16: 19,425,341 (GRCm39) T26A probably benign Het
Or5w19 G A 2: 87,698,559 (GRCm39) A75T possibly damaging Het
Otud7b G A 3: 96,062,795 (GRCm39) S678N probably benign Het
Pcdhb6 G A 18: 37,469,205 (GRCm39) V25M probably damaging Het
Prpf39 G T 12: 65,090,076 (GRCm39) G5* probably null Het
Serpinb9d T C 13: 33,386,895 (GRCm39) V321A probably damaging Het
Sh2b1 A G 7: 126,067,702 (GRCm39) S613P possibly damaging Het
Snx30 T C 4: 59,857,452 (GRCm39) I55T probably benign Het
Spata13 T C 14: 60,929,063 (GRCm39) I207T possibly damaging Het
Suco T C 1: 161,684,906 (GRCm39) probably benign Het
Svs5 A G 2: 164,079,032 (GRCm39) S292P possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Tmem45a A T 16: 56,631,936 (GRCm39) Y227* probably null Het
Tnfsf15 A G 4: 63,648,289 (GRCm39) probably benign Het
Vmn2r4 C A 3: 64,296,589 (GRCm39) R732L possibly damaging Het
Wdr7 C T 18: 63,893,672 (GRCm39) T602I probably benign Het
Other mutations in Col20a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Col20a1 APN 2 180,645,272 (GRCm39) missense possibly damaging 0.93
IGL00975:Col20a1 APN 2 180,634,271 (GRCm39) missense probably damaging 1.00
IGL01094:Col20a1 APN 2 180,641,559 (GRCm39) missense probably damaging 0.99
IGL01388:Col20a1 APN 2 180,645,264 (GRCm39) missense probably benign 0.24
IGL01472:Col20a1 APN 2 180,649,625 (GRCm39) missense probably benign 0.44
IGL01936:Col20a1 APN 2 180,651,161 (GRCm39) splice site probably benign
IGL02133:Col20a1 APN 2 180,648,937 (GRCm39) missense probably damaging 1.00
IGL02318:Col20a1 APN 2 180,648,952 (GRCm39) missense probably damaging 0.99
IGL02576:Col20a1 APN 2 180,655,198 (GRCm39) nonsense probably null
IGL02822:Col20a1 APN 2 180,638,600 (GRCm39) missense probably damaging 1.00
IGL02898:Col20a1 APN 2 180,630,905 (GRCm39) nonsense probably null
IGL03056:Col20a1 APN 2 180,636,682 (GRCm39) missense probably damaging 1.00
IGL03196:Col20a1 APN 2 180,649,671 (GRCm39) splice site probably null
R0001:Col20a1 UTSW 2 180,626,205 (GRCm39) unclassified probably benign
R0200:Col20a1 UTSW 2 180,642,231 (GRCm39) missense probably damaging 1.00
R0384:Col20a1 UTSW 2 180,640,955 (GRCm39) missense probably benign 0.00
R0964:Col20a1 UTSW 2 180,626,278 (GRCm39) unclassified probably benign
R0975:Col20a1 UTSW 2 180,648,619 (GRCm39) missense possibly damaging 0.75
R1359:Col20a1 UTSW 2 180,641,585 (GRCm39) missense probably benign 0.02
R1395:Col20a1 UTSW 2 180,640,400 (GRCm39) missense probably damaging 0.99
R1470:Col20a1 UTSW 2 180,636,753 (GRCm39) missense probably benign 0.01
R1470:Col20a1 UTSW 2 180,636,753 (GRCm39) missense probably benign 0.01
R1508:Col20a1 UTSW 2 180,634,370 (GRCm39) missense probably damaging 0.98
R1865:Col20a1 UTSW 2 180,657,606 (GRCm39) missense possibly damaging 0.87
R1883:Col20a1 UTSW 2 180,634,703 (GRCm39) missense possibly damaging 0.52
R1884:Col20a1 UTSW 2 180,634,703 (GRCm39) missense possibly damaging 0.52
R1906:Col20a1 UTSW 2 180,640,490 (GRCm39) missense probably benign 0.00
R2020:Col20a1 UTSW 2 180,654,956 (GRCm39) critical splice donor site probably null
R2121:Col20a1 UTSW 2 180,638,249 (GRCm39) missense probably damaging 0.99
R2131:Col20a1 UTSW 2 180,634,366 (GRCm39) missense probably damaging 1.00
R2343:Col20a1 UTSW 2 180,643,124 (GRCm39) missense possibly damaging 0.73
R3153:Col20a1 UTSW 2 180,650,386 (GRCm39) missense probably damaging 1.00
R3430:Col20a1 UTSW 2 180,655,078 (GRCm39) nonsense probably null
R3547:Col20a1 UTSW 2 180,636,704 (GRCm39) missense probably damaging 1.00
R3844:Col20a1 UTSW 2 180,634,242 (GRCm39) missense probably damaging 1.00
R3914:Col20a1 UTSW 2 180,640,285 (GRCm39) missense probably benign 0.00
R4414:Col20a1 UTSW 2 180,643,043 (GRCm39) missense possibly damaging 0.92
R4711:Col20a1 UTSW 2 180,634,284 (GRCm39) missense probably damaging 1.00
R4760:Col20a1 UTSW 2 180,626,196 (GRCm39) unclassified probably benign
R4771:Col20a1 UTSW 2 180,630,917 (GRCm39) missense probably benign 0.17
R4809:Col20a1 UTSW 2 180,640,454 (GRCm39) missense probably damaging 1.00
R4872:Col20a1 UTSW 2 180,639,156 (GRCm39) missense possibly damaging 0.74
R5045:Col20a1 UTSW 2 180,648,638 (GRCm39) missense probably damaging 1.00
R5238:Col20a1 UTSW 2 180,640,379 (GRCm39) missense probably damaging 1.00
R5566:Col20a1 UTSW 2 180,628,316 (GRCm39) splice site probably null
R6389:Col20a1 UTSW 2 180,634,376 (GRCm39) splice site probably null
R6422:Col20a1 UTSW 2 180,656,612 (GRCm39) missense possibly damaging 0.75
R6924:Col20a1 UTSW 2 180,638,643 (GRCm39) missense probably damaging 1.00
R6982:Col20a1 UTSW 2 180,638,499 (GRCm39) missense probably benign 0.00
R7177:Col20a1 UTSW 2 180,636,007 (GRCm39) nonsense probably null
R7195:Col20a1 UTSW 2 180,649,024 (GRCm39) missense probably damaging 1.00
R7717:Col20a1 UTSW 2 180,649,408 (GRCm39) missense probably damaging 1.00
R7872:Col20a1 UTSW 2 180,628,371 (GRCm39) missense probably benign 0.14
R8183:Col20a1 UTSW 2 180,640,207 (GRCm39) missense
R8188:Col20a1 UTSW 2 180,658,126 (GRCm39) critical splice donor site probably null
R8331:Col20a1 UTSW 2 180,638,559 (GRCm39) missense possibly damaging 0.95
R8423:Col20a1 UTSW 2 180,640,498 (GRCm39) missense probably damaging 1.00
R8803:Col20a1 UTSW 2 180,643,131 (GRCm39) missense possibly damaging 0.75
R8849:Col20a1 UTSW 2 180,640,432 (GRCm39) missense probably damaging 1.00
R8855:Col20a1 UTSW 2 180,655,684 (GRCm39) missense
R8885:Col20a1 UTSW 2 180,640,296 (GRCm39) splice site probably benign
R9160:Col20a1 UTSW 2 180,641,538 (GRCm39) missense probably benign
R9223:Col20a1 UTSW 2 180,648,528 (GRCm39) missense probably damaging 1.00
R9697:Col20a1 UTSW 2 180,641,577 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02