Incidental Mutation 'R8188:Col20a1'
ID 634956
Institutional Source Beutler Lab
Gene Symbol Col20a1
Ensembl Gene ENSMUSG00000016356
Gene Name collagen, type XX, alpha 1
Synonyms 1700051I12Rik
MMRRC Submission 067611-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8188 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 180628328-180660156 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 180658126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000108851] [ENSMUST00000108856] [ENSMUST00000149179]
AlphaFold Q923P0
Predicted Effect probably benign
Transcript: ENSMUST00000108851
SMART Domains Protein: ENSMUSP00000104479
Gene: ENSMUSG00000027577

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Neur_chan_LBD 39 245 8.4e-79 PFAM
Pfam:Neur_chan_memb 252 620 3.3e-112 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108856
SMART Domains Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356

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 benign
Transcript: ENSMUST00000149179
SMART Domains Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356

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 null
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 benign
Transcript: ENSMUST00000198922
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C G 4: 40,180,284 (GRCm39) A395G probably benign Het
Adgrf5 G A 17: 43,741,503 (GRCm39) C380Y probably damaging Het
Astn2 T C 4: 65,977,418 (GRCm39) T422A unknown Het
Baz1b G T 5: 135,233,916 (GRCm39) V148F probably benign Het
Bicd1 A C 6: 149,451,854 (GRCm39) S823R probably damaging Het
Bltp3b C T 10: 89,647,928 (GRCm39) T1330M possibly damaging Het
Blvra A C 2: 126,937,047 (GRCm39) S167R probably damaging Het
Camsap2 G T 1: 136,225,132 (GRCm39) probably null Het
Card14 T C 11: 119,228,623 (GRCm39) S650P probably damaging Het
Ccdc121rt2 A G 5: 112,597,993 (GRCm39) D180G possibly damaging Het
Cdh2 A G 18: 16,781,593 (GRCm39) I166T probably damaging Het
Cdnf T C 2: 3,514,228 (GRCm39) V22A probably benign Het
Cfhr4 T A 1: 139,625,868 (GRCm39) I869F probably damaging Het
Chd2 T A 7: 73,079,504 (GRCm39) K1799* probably null Het
Cyp4a31 T C 4: 115,426,943 (GRCm39) I182T probably benign Het
Dap3 A T 3: 88,843,543 (GRCm39) F25L probably benign Het
Dcc T A 18: 71,943,928 (GRCm39) Y241F probably benign Het
Ddx46 A G 13: 55,814,029 (GRCm39) I662V possibly damaging Het
Dzip3 T C 16: 48,772,499 (GRCm39) D390G probably damaging Het
Eif1 A G 11: 100,211,624 (GRCm39) D55G probably benign Het
Exosc5 T A 7: 25,358,790 (GRCm39) S44T probably damaging Het
Fat2 A G 11: 55,163,997 (GRCm39) V3086A probably damaging Het
Fcamr T A 1: 130,730,665 (GRCm39) probably null Het
Gcg T C 2: 62,309,004 (GRCm39) D50G probably damaging Het
Gm7298 A G 6: 121,763,537 (GRCm39) probably null Het
Hfe A G 13: 23,892,175 (GRCm39) V63A probably damaging Het
Hoxd11 T A 2: 74,514,298 (GRCm39) I276N probably damaging Het
Htt T C 5: 34,919,287 (GRCm39) S13P probably benign Het
Il12a T A 3: 68,598,872 (GRCm39) C18S unknown Het
Itk G T 11: 46,222,776 (GRCm39) Y564* probably null Het
Lrrc46 A T 11: 96,931,705 (GRCm39) L39Q probably damaging Het
Myom3 T A 4: 135,507,231 (GRCm39) L537Q probably damaging Het
Nrap A C 19: 56,325,010 (GRCm39) Y1234* probably null Het
Or51q1 T C 7: 103,628,743 (GRCm39) S121P probably damaging Het
Or8b9 A T 9: 37,766,407 (GRCm39) M98L probably benign Het
Parn T C 16: 13,359,020 (GRCm39) D574G probably benign Het
Pbrm1 A G 14: 30,789,773 (GRCm39) I807V probably damaging Het
Pclo T A 5: 14,725,193 (GRCm39) S1350R unknown Het
Pira13 T C 7: 3,826,126 (GRCm39) H289R unknown Het
Plaa T C 4: 94,474,586 (GRCm39) Q272R probably damaging Het
Rfx6 T A 10: 51,594,292 (GRCm39) I174N probably benign Het
Ripk2 T A 4: 16,139,218 (GRCm39) K226N probably damaging Het
Scgb1b2 T C 7: 30,990,946 (GRCm39) D54G possibly damaging Het
Slc45a4 T C 15: 73,456,383 (GRCm39) Y599C probably benign Het
Slc7a13 T C 4: 19,819,082 (GRCm39) V94A probably benign Het
Slc7a8 A G 14: 54,972,579 (GRCm39) F281L probably benign Het
Slco4c1 T A 1: 96,772,261 (GRCm39) T243S probably damaging Het
Smim30 C T 6: 13,870,541 (GRCm39) G57E probably damaging Het
Stat5b A G 11: 100,692,262 (GRCm39) I174T probably damaging Het
Styk1 C A 6: 131,281,848 (GRCm39) V257L probably benign Het
Tmem268 T C 4: 63,498,209 (GRCm39) F210L probably damaging Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Vps50 T A 6: 3,562,297 (GRCm39) L464* probably null Het
Zfhx2 A T 14: 55,301,898 (GRCm39) S2029T probably benign Het
Zfp235 T A 7: 23,841,296 (GRCm39) F572I probably damaging Het
Zfp280d T C 9: 72,267,615 (GRCm39) I766T probably benign Het
Zfr T G 15: 12,171,904 (GRCm39) C933W probably damaging 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
IGL03189:Col20a1 APN 2 180,651,200 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ATGCTTCTCCCAAGAGGACC -3'
(R):5'- CCATTATAGGGCTTCTCCAAGAC -3'

Sequencing Primer
(F):5'- GACCCAGCCTTCCTCTGACAG -3'
(R):5'- TTCTCCAAGACCCGTGAGC -3'
Posted On 2020-07-13