Incidental Mutation 'IGL02898:Col20a1'
ID363486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col20a1
Ensembl Gene ENSMUSG00000016356
Gene Namecollagen, type XX, alpha 1
Synonyms1700051I12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02898
Quality Score
Status
Chromosome2
Chromosomal Location180986535-181018363 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 180989112 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 58 (Q58*)
Ref Sequence ENSEMBL: ENSMUSP00000153871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108856] [ENSMUST00000149179] [ENSMUST00000228434]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000094214
SMART Domains Protein: ENSMUSP00000091767
Gene: ENSMUSG00000070461

DomainStartEndE-ValueType
low complexity region 107 120 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108856
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: Q58*

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: Q58*
SMART Domains Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: Q58*

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 noncoding transcript
Transcript: ENSMUST00000189441
Predicted Effect probably null
Transcript: ENSMUST00000228434
AA Change: Q58*
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 A G 10: 80,342,231 probably benign Het
Brd3 A G 2: 27,459,741 S267P possibly damaging Het
Btaf1 A G 19: 36,969,068 T425A probably benign Het
Caskin1 A T 17: 24,502,409 E544D probably benign Het
Eif2ak1 G A 5: 143,889,452 V428I probably damaging Het
Fez2 A G 17: 78,384,755 I345T probably benign Het
Focad A T 4: 88,391,997 M1388L probably benign Het
Gfer T C 17: 24,695,947 R41G probably benign Het
Gm6614 T A 6: 141,994,297 Y140F probably benign Het
Gm9956 C T 10: 56,745,254 S4L unknown Het
Krtap6-1 G A 16: 89,031,755 G13D unknown Het
Megf8 A G 7: 25,346,508 E1492G possibly damaging Het
Myh7 T C 14: 54,983,740 I909V probably damaging Het
Olfr380 T A 11: 73,453,735 H159L probably damaging Het
Olfr741 T A 14: 50,486,186 S243T probably damaging Het
Otog A G 7: 46,310,138 E717G probably damaging Het
Pik3r4 A G 9: 105,650,406 I319M probably benign Het
Piwil4 A T 9: 14,706,287 probably benign Het
Plekho1 T A 3: 95,992,181 H100L probably damaging Het
Prr30 T G 14: 101,198,481 D215A probably benign Het
Prss52 C T 14: 64,113,666 A300V possibly damaging Het
Ralgps2 C A 1: 156,817,744 K514N probably benign Het
Robo4 T C 9: 37,408,176 I463T probably damaging Het
Sars A T 3: 108,429,263 F268Y probably damaging Het
Sidt1 C T 16: 44,282,495 R289Q possibly damaging Het
Slco2a1 T C 9: 103,079,606 V539A probably damaging Het
Snrnp200 A G 2: 127,216,756 probably benign Het
Spag17 A G 3: 100,101,386 D1944G probably benign Het
Spata1 C T 3: 146,475,339 R288Q possibly damaging Het
Tatdn3 T C 1: 191,046,310 *233W probably null Het
Ttc3 T A 16: 94,419,426 V536E probably damaging Het
V1rd19 A C 7: 24,003,429 T107P probably damaging Het
Other mutations in Col20a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Col20a1 APN 2 181003479 missense possibly damaging 0.93
IGL00975:Col20a1 APN 2 180992478 missense probably damaging 1.00
IGL01094:Col20a1 APN 2 180999766 missense probably damaging 0.99
IGL01388:Col20a1 APN 2 181003471 missense probably benign 0.24
IGL01472:Col20a1 APN 2 181007832 missense probably benign 0.44
IGL01936:Col20a1 APN 2 181009368 splice site probably benign
IGL02133:Col20a1 APN 2 181007144 missense probably damaging 1.00
IGL02318:Col20a1 APN 2 181007159 missense probably damaging 0.99
IGL02576:Col20a1 APN 2 181013405 nonsense probably null
IGL02822:Col20a1 APN 2 180996807 missense probably damaging 1.00
IGL03056:Col20a1 APN 2 180994889 missense probably damaging 1.00
IGL03189:Col20a1 APN 2 181009407 nonsense probably null
IGL03196:Col20a1 APN 2 181007878 splice site probably null
R0001:Col20a1 UTSW 2 180984412 unclassified probably benign
R0200:Col20a1 UTSW 2 181000438 missense probably damaging 1.00
R0384:Col20a1 UTSW 2 180999162 missense probably benign 0.00
R0964:Col20a1 UTSW 2 180984485 unclassified probably benign
R0975:Col20a1 UTSW 2 181006826 missense possibly damaging 0.75
R1359:Col20a1 UTSW 2 180999792 missense probably benign 0.02
R1395:Col20a1 UTSW 2 180998607 missense probably damaging 0.99
R1470:Col20a1 UTSW 2 180994960 missense probably benign 0.01
R1470:Col20a1 UTSW 2 180994960 missense probably benign 0.01
R1508:Col20a1 UTSW 2 180992577 missense probably damaging 0.98
R1865:Col20a1 UTSW 2 181015813 missense possibly damaging 0.87
R1883:Col20a1 UTSW 2 180992910 missense possibly damaging 0.52
R1884:Col20a1 UTSW 2 180992910 missense possibly damaging 0.52
R1906:Col20a1 UTSW 2 180998697 missense probably benign 0.00
R2020:Col20a1 UTSW 2 181013163 critical splice donor site probably null
R2121:Col20a1 UTSW 2 180996456 missense probably damaging 0.99
R2131:Col20a1 UTSW 2 180992573 missense probably damaging 1.00
R2343:Col20a1 UTSW 2 181001331 missense possibly damaging 0.73
R3153:Col20a1 UTSW 2 181008593 missense probably damaging 1.00
R3430:Col20a1 UTSW 2 181013285 nonsense probably null
R3547:Col20a1 UTSW 2 180994911 missense probably damaging 1.00
R3844:Col20a1 UTSW 2 180992449 missense probably damaging 1.00
R3914:Col20a1 UTSW 2 180998492 missense probably benign 0.00
R4414:Col20a1 UTSW 2 181001250 missense possibly damaging 0.92
R4711:Col20a1 UTSW 2 180992491 missense probably damaging 1.00
R4760:Col20a1 UTSW 2 180984403 unclassified probably benign
R4771:Col20a1 UTSW 2 180989124 missense probably benign 0.17
R4809:Col20a1 UTSW 2 180998661 missense probably damaging 1.00
R4872:Col20a1 UTSW 2 180997363 missense possibly damaging 0.74
R5045:Col20a1 UTSW 2 181006845 missense probably damaging 1.00
R5238:Col20a1 UTSW 2 180998586 missense probably damaging 1.00
R5566:Col20a1 UTSW 2 180986523 unclassified probably null
R6389:Col20a1 UTSW 2 180992583 splice site probably null
R6422:Col20a1 UTSW 2 181014819 missense possibly damaging 0.75
R6924:Col20a1 UTSW 2 180996850 missense probably damaging 1.00
R6982:Col20a1 UTSW 2 180996706 missense probably benign 0.00
R7177:Col20a1 UTSW 2 180994214 nonsense probably null
R7195:Col20a1 UTSW 2 181007231 missense probably damaging 1.00
R7717:Col20a1 UTSW 2 181007615 missense probably damaging 1.00
Posted On2015-12-18