Incidental Mutation 'IGL00928:Col3a1'
ID 26651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col3a1
Ensembl Gene ENSMUSG00000026043
Gene Name collagen, type III, alpha 1
Synonyms Tsk-2, Tsk2, Col3a-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # IGL00928
Quality Score
Status
Chromosome 1
Chromosomal Location 45350698-45388866 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 45380018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087883] [ENSMUST00000186021]
AlphaFold P08121
Predicted Effect probably benign
Transcript: ENSMUST00000087883
SMART Domains Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
VWC 33 89 2.73e-20 SMART
low complexity region 100 140 N/A INTRINSIC
low complexity region 163 227 N/A INTRINSIC
low complexity region 230 248 N/A INTRINSIC
internal_repeat_2 249 284 3.45e-13 PROSPERO
internal_repeat_1 250 290 1.9e-17 PROSPERO
Pfam:Collagen 293 366 7.3e-9 PFAM
low complexity region 368 419 N/A INTRINSIC
internal_repeat_4 423 476 2.52e-11 PROSPERO
internal_repeat_1 427 488 1.9e-17 PROSPERO
internal_repeat_3 427 491 7.39e-12 PROSPERO
internal_repeat_2 456 491 3.45e-13 PROSPERO
Pfam:Collagen 533 592 2.6e-11 PFAM
low complexity region 632 680 N/A INTRINSIC
low complexity region 683 776 N/A INTRINSIC
low complexity region 784 815 N/A INTRINSIC
low complexity region 818 855 N/A INTRINSIC
low complexity region 865 921 N/A INTRINSIC
low complexity region 925 950 N/A INTRINSIC
low complexity region 953 974 N/A INTRINSIC
internal_repeat_4 975 1028 2.52e-11 PROSPERO
internal_repeat_3 976 1029 7.39e-12 PROSPERO
internal_repeat_5 977 991 3.33e-5 PROSPERO
internal_repeat_5 1019 1033 3.33e-5 PROSPERO
low complexity region 1037 1058 N/A INTRINSIC
Pfam:Collagen 1076 1135 5.6e-13 PFAM
Pfam:Collagen 1136 1209 4.3e-11 PFAM
COLFI 1229 1464 5.73e-166 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185687
Predicted Effect probably benign
Transcript: ENSMUST00000186021
SMART Domains Protein: ENSMUSP00000139802
Gene: ENSMUSG00000026043

DomainStartEndE-ValueType
Pfam:Collagen 3 62 1.5e-11 PFAM
COLFI 96 244 7.9e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190943
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the alpha-1 subunit of the fibril-forming type III collagen found in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue. The encoded protein forms homotrimeric type III procollagen that undergoes proteolytic processing during fibril formation. A majority of mice lacking the encoded protein die within two days of birth but about 5% of the animals survive to adulthood. The surviving mice exhibit severe cortical malformation and experience significantly shorter lifespan. The mutant mouse named "tight skin 2" exhibiting systemic sclerosis phenotype was found to harbor a missense point mutation in this gene. A pseudogene of this gene has been defined on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,217,720 (GRCm39) probably benign Het
Ablim3 T C 18: 61,982,477 (GRCm39) E156G possibly damaging Het
Adgrb2 A G 4: 129,886,096 (GRCm39) T79A probably benign Het
Arel1 A T 12: 84,980,936 (GRCm39) V357E probably damaging Het
Asph T C 4: 9,594,675 (GRCm39) I241V probably benign Het
B3galt2 A G 1: 143,522,893 (GRCm39) Y343C probably damaging Het
Brf1 A G 12: 112,927,220 (GRCm39) probably benign Het
Cps1 A C 1: 67,162,393 (GRCm39) T24P probably benign Het
Cyp3a25 A G 5: 145,923,764 (GRCm39) L293P possibly damaging Het
Engase C A 11: 118,373,796 (GRCm39) R313S possibly damaging Het
Espn A G 4: 152,220,059 (GRCm39) S28P probably damaging Het
Gnas T A 2: 174,139,746 (GRCm39) L31* probably null Het
Gorasp2 A G 2: 70,521,208 (GRCm39) T393A probably benign Het
Gpc6 T A 14: 117,163,370 (GRCm39) V8E possibly damaging Het
Gtf2a1l T C 17: 89,001,890 (GRCm39) S202P probably benign Het
Gucy1a2 T C 9: 3,759,777 (GRCm39) F528L probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Igsf10 T C 3: 59,238,018 (GRCm39) H721R probably benign Het
Kcnu1 T C 8: 26,339,763 (GRCm39) F27S probably damaging Het
Mprip T A 11: 59,635,578 (GRCm39) W366R probably damaging Het
Myom1 T C 17: 71,396,908 (GRCm39) V954A probably damaging Het
Nudt13 T C 14: 20,366,231 (GRCm39) I303T possibly damaging Het
Or10s1 T A 9: 39,986,072 (GRCm39) H160Q probably damaging Het
Or2h1 A C 17: 37,404,224 (GRCm39) S181A probably benign Het
Orc4 A G 2: 48,800,281 (GRCm39) V289A probably benign Het
Pamr1 C A 2: 102,469,686 (GRCm39) Q411K probably benign Het
Pdcl A G 2: 37,247,386 (GRCm39) M1T probably null Het
Phf20 T C 2: 156,146,736 (GRCm39) probably null Het
Pla2r1 T C 2: 60,365,424 (GRCm39) S49G probably damaging Het
Ppp2r3c A G 12: 55,339,283 (GRCm39) probably null Het
Rdh14 G A 12: 10,444,803 (GRCm39) S218N probably damaging Het
Rfx4 A G 10: 84,675,978 (GRCm39) R16G probably benign Het
Scarb2 A C 5: 92,594,203 (GRCm39) F453C probably damaging Het
Sh2d7 A G 9: 54,448,515 (GRCm39) T179A probably benign Het
Spag6l C T 16: 16,584,877 (GRCm39) A424T possibly damaging Het
Trim71 T C 9: 114,354,083 (GRCm39) D307G probably benign Het
Ufl1 A T 4: 25,267,790 (GRCm39) L294M probably damaging Het
Wdr93 C A 7: 79,425,301 (GRCm39) P540Q probably damaging Het
Wmp T A X: 106,989,449 (GRCm39) E488V possibly damaging Het
Other mutations in Col3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Col3a1 APN 1 45,386,295 (GRCm39) missense probably damaging 1.00
IGL00958:Col3a1 APN 1 45,366,755 (GRCm39) missense unknown
IGL01353:Col3a1 APN 1 45,372,798 (GRCm39) unclassified probably benign
IGL01820:Col3a1 APN 1 45,360,768 (GRCm39) missense unknown
IGL01839:Col3a1 APN 1 45,350,990 (GRCm39) missense unknown
IGL02517:Col3a1 APN 1 45,364,963 (GRCm39) critical splice acceptor site probably null
IGL02879:Col3a1 APN 1 45,380,119 (GRCm39) intron probably benign
IGL02960:Col3a1 APN 1 45,367,615 (GRCm39) missense unknown
IGL03245:Col3a1 APN 1 45,370,269 (GRCm39) unclassified probably benign
IGL03308:Col3a1 APN 1 45,369,777 (GRCm39) splice site probably benign
Creation UTSW 1 45,385,144 (GRCm39) missense probably damaging 1.00
Kraken UTSW 1 45,367,026 (GRCm39) splice site probably null
Wealth UTSW 1 45,379,472 (GRCm39) splice site probably benign
IGL03050:Col3a1 UTSW 1 45,368,085 (GRCm39) splice site probably null
PIT4520001:Col3a1 UTSW 1 45,374,943 (GRCm39) critical splice donor site probably null
R0063:Col3a1 UTSW 1 45,369,701 (GRCm39) splice site probably benign
R0122:Col3a1 UTSW 1 45,380,057 (GRCm39) intron probably benign
R0131:Col3a1 UTSW 1 45,368,028 (GRCm39) splice site probably benign
R0762:Col3a1 UTSW 1 45,360,686 (GRCm39) missense unknown
R0765:Col3a1 UTSW 1 45,375,811 (GRCm39) unclassified probably benign
R0853:Col3a1 UTSW 1 45,382,484 (GRCm39) intron probably benign
R0898:Col3a1 UTSW 1 45,373,153 (GRCm39) unclassified probably benign
R1170:Col3a1 UTSW 1 45,386,884 (GRCm39) missense probably damaging 1.00
R1170:Col3a1 UTSW 1 45,366,761 (GRCm39) missense unknown
R1440:Col3a1 UTSW 1 45,382,472 (GRCm39) splice site probably null
R1449:Col3a1 UTSW 1 45,360,771 (GRCm39) missense unknown
R1526:Col3a1 UTSW 1 45,360,848 (GRCm39) missense unknown
R1572:Col3a1 UTSW 1 45,385,128 (GRCm39) missense possibly damaging 0.95
R1585:Col3a1 UTSW 1 45,367,026 (GRCm39) splice site probably null
R1616:Col3a1 UTSW 1 45,367,648 (GRCm39) critical splice donor site probably null
R1691:Col3a1 UTSW 1 45,387,776 (GRCm39) unclassified probably benign
R1876:Col3a1 UTSW 1 45,381,395 (GRCm39) splice site probably null
R1937:Col3a1 UTSW 1 45,373,453 (GRCm39) unclassified probably benign
R2093:Col3a1 UTSW 1 45,372,150 (GRCm39) missense probably damaging 1.00
R2110:Col3a1 UTSW 1 45,369,305 (GRCm39) missense unknown
R2119:Col3a1 UTSW 1 45,385,281 (GRCm39) missense probably damaging 1.00
R2256:Col3a1 UTSW 1 45,360,792 (GRCm39) missense unknown
R2327:Col3a1 UTSW 1 45,377,771 (GRCm39) unclassified probably benign
R2518:Col3a1 UTSW 1 45,376,672 (GRCm39) unclassified probably benign
R2991:Col3a1 UTSW 1 45,374,939 (GRCm39) unclassified probably benign
R3405:Col3a1 UTSW 1 45,377,913 (GRCm39) unclassified probably benign
R3784:Col3a1 UTSW 1 45,386,295 (GRCm39) missense probably damaging 1.00
R3847:Col3a1 UTSW 1 45,361,150 (GRCm39) missense unknown
R3848:Col3a1 UTSW 1 45,361,150 (GRCm39) missense unknown
R3849:Col3a1 UTSW 1 45,361,150 (GRCm39) missense unknown
R4502:Col3a1 UTSW 1 45,387,837 (GRCm39) unclassified probably benign
R4503:Col3a1 UTSW 1 45,387,837 (GRCm39) unclassified probably benign
R4764:Col3a1 UTSW 1 45,385,270 (GRCm39) missense probably damaging 1.00
R4839:Col3a1 UTSW 1 45,362,963 (GRCm39) splice site probably null
R4934:Col3a1 UTSW 1 45,379,112 (GRCm39) unclassified probably benign
R5033:Col3a1 UTSW 1 45,385,270 (GRCm39) missense probably damaging 1.00
R5123:Col3a1 UTSW 1 45,372,756 (GRCm39) unclassified probably benign
R5190:Col3a1 UTSW 1 45,383,967 (GRCm39) intron probably benign
R5190:Col3a1 UTSW 1 45,368,244 (GRCm39) missense unknown
R5375:Col3a1 UTSW 1 45,387,059 (GRCm39) splice site probably null
R5407:Col3a1 UTSW 1 45,385,212 (GRCm39) missense probably benign 0.03
R5627:Col3a1 UTSW 1 45,370,720 (GRCm39) unclassified probably benign
R5642:Col3a1 UTSW 1 45,370,872 (GRCm39) unclassified probably benign
R6014:Col3a1 UTSW 1 45,360,739 (GRCm39) nonsense probably null
R6052:Col3a1 UTSW 1 45,384,173 (GRCm39) unclassified probably benign
R6263:Col3a1 UTSW 1 45,360,735 (GRCm39) missense unknown
R6453:Col3a1 UTSW 1 45,378,538 (GRCm39) unclassified probably benign
R6463:Col3a1 UTSW 1 45,381,365 (GRCm39) intron probably benign
R6488:Col3a1 UTSW 1 45,370,694 (GRCm39) unclassified probably benign
R6525:Col3a1 UTSW 1 45,386,339 (GRCm39) missense possibly damaging 0.88
R6637:Col3a1 UTSW 1 45,386,890 (GRCm39) missense probably damaging 1.00
R6704:Col3a1 UTSW 1 45,386,892 (GRCm39) missense probably damaging 1.00
R6744:Col3a1 UTSW 1 45,377,782 (GRCm39) unclassified probably benign
R6745:Col3a1 UTSW 1 45,377,782 (GRCm39) unclassified probably benign
R6747:Col3a1 UTSW 1 45,377,782 (GRCm39) unclassified probably benign
R6858:Col3a1 UTSW 1 45,385,144 (GRCm39) missense probably damaging 1.00
R6903:Col3a1 UTSW 1 45,371,148 (GRCm39) missense probably damaging 0.96
R7189:Col3a1 UTSW 1 45,372,817 (GRCm39) missense unknown
R7194:Col3a1 UTSW 1 45,370,860 (GRCm39) missense unknown
R7199:Col3a1 UTSW 1 45,371,301 (GRCm39) missense probably null 0.99
R7204:Col3a1 UTSW 1 45,361,578 (GRCm39) missense unknown
R7304:Col3a1 UTSW 1 45,386,971 (GRCm39) missense unknown
R7378:Col3a1 UTSW 1 45,366,807 (GRCm39) splice site probably null
R7398:Col3a1 UTSW 1 45,366,973 (GRCm39) missense unknown
R7742:Col3a1 UTSW 1 45,384,161 (GRCm39) missense unknown
R8072:Col3a1 UTSW 1 45,360,734 (GRCm39) missense unknown
R8177:Col3a1 UTSW 1 45,374,924 (GRCm39) missense unknown
R8183:Col3a1 UTSW 1 45,373,970 (GRCm39) missense unknown
R8445:Col3a1 UTSW 1 45,380,340 (GRCm39) nonsense probably null
R8490:Col3a1 UTSW 1 45,385,116 (GRCm39) missense probably benign 0.01
R8546:Col3a1 UTSW 1 45,380,099 (GRCm39) intron probably benign
R8720:Col3a1 UTSW 1 45,386,893 (GRCm39) missense unknown
R8733:Col3a1 UTSW 1 45,379,472 (GRCm39) splice site probably benign
R8888:Col3a1 UTSW 1 45,379,139 (GRCm39) missense unknown
R9227:Col3a1 UTSW 1 45,383,138 (GRCm39) missense unknown
R9230:Col3a1 UTSW 1 45,383,138 (GRCm39) missense unknown
R9302:Col3a1 UTSW 1 45,350,980 (GRCm39) nonsense probably null
R9366:Col3a1 UTSW 1 45,380,391 (GRCm39) missense unknown
R9653:Col3a1 UTSW 1 45,360,728 (GRCm39) missense unknown
R9677:Col3a1 UTSW 1 45,369,727 (GRCm39) missense unknown
Z1177:Col3a1 UTSW 1 45,350,960 (GRCm39) missense unknown
Posted On 2013-04-17