Incidental Mutation 'R5123:Col3a1'
ID 393381
Institutional Source Beutler Lab
Gene Symbol Col3a1
Ensembl Gene ENSMUSG00000026043
Gene Name collagen, type III, alpha 1
Synonyms Tsk-2, Tsk2, Col3a-1
MMRRC Submission 042711-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # R5123 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 45350698-45388866 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 45372756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000087883]
AlphaFold P08121
Predicted Effect unknown
Transcript: ENSMUST00000087883
AA Change: A514T
SMART Domains Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043
AA Change: A514T

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 noncoding transcript
Transcript: ENSMUST00000123204
Predicted Effect probably benign
Transcript: ENSMUST00000185687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190943
Meta Mutation Damage Score 0.0867 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (53/54)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,603,434 (GRCm39) G542D possibly damaging Het
Adh6b A G 3: 138,063,450 (GRCm39) Y343C probably damaging Het
Adsl T A 15: 80,836,495 (GRCm39) probably null Het
Apob T A 12: 8,057,630 (GRCm39) probably null Het
Atp6ap1l T A 13: 91,047,017 (GRCm39) probably benign Het
Cacnb3 A G 15: 98,537,750 (GRCm39) D74G probably damaging Het
Cfap251 A G 5: 123,411,696 (GRCm39) probably benign Het
Clca3a2 T A 3: 144,512,104 (GRCm39) D544V probably damaging Het
D7Ertd443e A G 7: 133,951,397 (GRCm39) probably null Het
Dscam T C 16: 96,573,637 (GRCm39) D775G probably damaging Het
Eif2b3 T A 4: 116,879,408 (GRCm39) M16K probably damaging Het
Eml5 T C 12: 98,840,771 (GRCm39) Y281C probably damaging Het
Epha2 T A 4: 141,036,176 (GRCm39) L204Q possibly damaging Het
Filip1l A C 16: 57,391,025 (GRCm39) I538L possibly damaging Het
Gcnt2 T A 13: 41,071,831 (GRCm39) V158D probably damaging Het
Gnaq A G 19: 16,309,449 (GRCm39) N162S probably benign Het
Haus5 A T 7: 30,353,651 (GRCm39) N575K probably benign Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Igsf5 A G 16: 96,174,279 (GRCm39) D103G probably damaging Het
Myo10 A G 15: 25,726,569 (GRCm39) D297G possibly damaging Het
Net1 C T 13: 3,936,623 (GRCm39) R314H probably damaging Het
Or4b1c C A 2: 90,126,512 (GRCm39) R231L probably benign Het
Or4k51 T A 2: 111,584,897 (GRCm39) V101D probably damaging Het
Pcsk4 C A 10: 80,157,979 (GRCm39) Q586H probably null Het
Pramel11 A T 4: 143,623,706 (GRCm39) M156K probably benign Het
Prss1 A G 6: 41,440,131 (GRCm39) D156G possibly damaging Het
Rnf133 A T 6: 23,649,259 (GRCm39) N266K probably damaging Het
Setd2 G T 9: 110,446,595 (GRCm39) A2482S possibly damaging Het
Sgo2a A T 1: 58,055,726 (GRCm39) S637C probably damaging Het
Slc2a5 C A 4: 150,224,262 (GRCm39) S290* probably null Het
Spata6 T G 4: 111,625,992 (GRCm39) H120Q possibly damaging Het
Stk11 G A 10: 79,963,775 (GRCm39) V194I probably damaging Het
Tkt T C 14: 30,287,603 (GRCm39) V199A probably benign Het
Traf3 G A 12: 111,209,952 (GRCm39) V183M possibly damaging Het
Trappc11 T C 8: 47,966,437 (GRCm39) Y483C probably damaging Het
Trappc9 T C 15: 72,785,215 (GRCm39) probably benign Het
Trim59 T C 3: 68,945,067 (GRCm39) H91R probably benign Het
Ttc21a A G 9: 119,781,278 (GRCm39) S484G probably benign Het
Usp13 A T 3: 32,969,947 (GRCm39) H691L probably benign Het
Vmn1r238 T C 18: 3,123,243 (GRCm39) Y57C probably benign Het
Vmn2r111 T A 17: 22,790,124 (GRCm39) Q294L possibly damaging Het
Vmn2r17 A G 5: 109,575,774 (GRCm39) D215G possibly damaging Het
Zfp280b A G 10: 75,875,183 (GRCm39) D354G probably benign Het
Zfp607a A G 7: 27,578,523 (GRCm39) H531R probably damaging Het
Zfp74 A T 7: 29,634,158 (GRCm39) C517S probably damaging Het
Other mutations in Col3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Col3a1 APN 1 45,386,295 (GRCm39) missense probably damaging 1.00
IGL00928:Col3a1 APN 1 45,380,018 (GRCm39) intron probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCATGGAAAATTCATCATAGTTGCCC -3'
(R):5'- TATGTATCCTTGCAAATGTACTCCC -3'

Sequencing Primer
(F):5'- GTTGCCCAATTTTTCTTCAAGATG -3'
(R):5'- AATCTGTCTTGACCCATGGTTG -3'
Posted On 2016-06-15