Incidental Mutation 'R6263:Col3a1'
ID 506791
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 044437-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.766) question?
Stock # R6263 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 45350698-45388866 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45360735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 55 (V55A)
Ref Sequence ENSEMBL: ENSMUSP00000085192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087883]
AlphaFold P08121
Predicted Effect unknown
Transcript: ENSMUST00000087883
AA Change: V55A
SMART Domains Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043
AA Change: V55A

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: ENSMUST00000129611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189818
Meta Mutation Damage Score 0.1964 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,995,641 (GRCm39) I5642V probably benign Het
Atp5f1a A G 18: 77,866,930 (GRCm39) probably null Het
Bltp1 T A 3: 36,985,260 (GRCm39) N863K probably benign Het
Bsn A T 9: 107,990,453 (GRCm39) F1766L probably damaging Het
Ccdc141 T C 2: 76,938,807 (GRCm39) Q266R probably damaging Het
Cdh10 T A 15: 18,964,154 (GRCm39) D105E possibly damaging Het
Clca3a1 T A 3: 144,455,539 (GRCm39) D418V probably damaging Het
Cnnm2 C A 19: 46,845,344 (GRCm39) T612K probably benign Het
Cpd A C 11: 76,737,097 (GRCm39) D232E probably benign Het
Csde1 A G 3: 102,947,333 (GRCm39) H95R probably benign Het
Ctcfl T A 2: 172,937,130 (GRCm39) H596L probably benign Het
Cwc22 T C 2: 77,726,515 (GRCm39) R855G possibly damaging Het
Cwc25 A G 11: 97,644,053 (GRCm39) Y227H probably damaging Het
Cyp2c38 G A 19: 39,380,659 (GRCm39) P409S probably damaging Het
Ddx5 A G 11: 106,679,139 (GRCm39) S2P possibly damaging Het
Dnah2 C A 11: 69,348,238 (GRCm39) G2570W probably damaging Het
Dnajc10 T A 2: 80,174,292 (GRCm39) V528E probably damaging Het
Efcab3 G A 11: 104,810,312 (GRCm39) D3150N unknown Het
Fmo1 A G 1: 162,677,629 (GRCm39) probably null Het
Gpatch1 C A 7: 35,002,848 (GRCm39) D221Y probably damaging Het
Ino80 T C 2: 119,213,895 (GRCm39) Y1225C probably damaging Het
Itga7 T A 10: 128,779,955 (GRCm39) D501E probably benign Het
Lgr4 T C 2: 109,842,243 (GRCm39) S743P possibly damaging Het
Lilra5 A T 7: 4,241,360 (GRCm39) Y99F probably damaging Het
Lmna A G 3: 88,410,265 (GRCm39) V49A probably damaging Het
Lrrc72 G A 12: 36,258,603 (GRCm39) R267* probably null Het
Mapkbp1 T C 2: 119,853,772 (GRCm39) S1199P probably damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Myh10 A T 11: 68,701,058 (GRCm39) N1756Y probably damaging Het
Nfe2 A G 15: 103,159,378 (GRCm39) I31T probably damaging Het
Nfe2l1 A T 11: 96,708,570 (GRCm39) F732I probably benign Het
Or4a39 C G 2: 89,237,074 (GRCm39) M116I possibly damaging Het
Or4c12b T A 2: 89,647,104 (GRCm39) C145S probably damaging Het
Or52e19b C A 7: 103,032,403 (GRCm39) V269F possibly damaging Het
Pax6 T C 2: 105,523,199 (GRCm39) probably null Het
Phb1 A G 11: 95,568,941 (GRCm39) E192G probably damaging Het
Plekhn1 A T 4: 156,309,650 (GRCm39) probably null Het
Plxnb2 A T 15: 89,046,189 (GRCm39) V942E probably damaging Het
Potegl T A 2: 23,156,745 (GRCm39) probably benign Het
Rsrc2 G A 5: 123,877,751 (GRCm39) probably benign Het
Septin8 G A 11: 53,439,210 (GRCm39) C460Y probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc16a7 A G 10: 125,130,508 (GRCm39) I59T probably benign Het
Slc35d1 A T 4: 103,065,365 (GRCm39) I172N possibly damaging Het
Smg5 A T 3: 88,249,208 (GRCm39) N40Y possibly damaging Het
Smurf1 A G 5: 144,818,541 (GRCm39) V633A probably damaging Het
Snx9 T C 17: 5,937,324 (GRCm39) V22A probably damaging Het
Sox6 A T 7: 115,076,295 (GRCm39) M741K probably damaging Het
Spata31d1d T C 13: 59,873,797 (GRCm39) Q1246R probably benign Het
Sval1 A G 6: 41,928,660 (GRCm39) E24G probably damaging Het
Tas2r124 A G 6: 132,731,867 (GRCm39) I59V probably benign Het
Tmem151b T A 17: 45,857,992 (GRCm39) T85S probably benign Het
Tpr T A 1: 150,317,996 (GRCm39) probably null Het
Trpm6 A C 19: 18,831,472 (GRCm39) T1446P possibly damaging Het
Tsc22d4 A T 5: 137,766,441 (GRCm39) K502N possibly damaging Het
Tssk3 C T 4: 129,383,051 (GRCm39) S207N probably benign Het
Ttbk1 G T 17: 46,778,188 (GRCm39) P618Q probably damaging Het
Ttll6 A T 11: 96,047,371 (GRCm39) M657L probably benign Het
Ubash3a T A 17: 31,434,069 (GRCm39) I138N probably benign Het
Ush2a A G 1: 188,090,839 (GRCm39) Y490C probably damaging Het
Vmn1r82 G T 7: 12,039,461 (GRCm39) V127F probably damaging Het
Vmn2r32 A T 7: 7,479,691 (GRCm39) S161T possibly damaging Het
Wdr49 T C 3: 75,388,824 (GRCm39) I58M possibly damaging Het
Wiz A T 17: 32,579,417 (GRCm39) probably null Het
Wrap53 A T 11: 69,453,619 (GRCm39) Y324* probably null Het
Zfp747 A C 7: 126,975,138 (GRCm39) probably benign Het
Zfp827 A G 8: 79,905,702 (GRCm39) Y33C 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
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
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'- TCCAGCTGCATAAGTAATAGACAAG -3'
(R):5'- TGGCAACAGACATGGCTTGC -3'

Sequencing Primer
(F):5'- TGATGAAAAATTGCACTGTGCC -3'
(R):5'- GCAACAGACATGGCTTGCATTTC -3'
Posted On 2018-03-15