Incidental Mutation 'R1170:Col3a1'
ID99260
Institutional Source Beutler Lab
Gene Symbol Col3a1
Ensembl Gene ENSMUSG00000026043
Gene Namecollagen, type III, alpha 1
SynonymsCol3a-1
MMRRC Submission 039243-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.805) question?
Stock #R1170 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location45311538-45349706 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45327601 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 234 (R234G)
Ref Sequence ENSEMBL: ENSMUSP00000085192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087883]
Predicted Effect unknown
Transcript: ENSMUST00000087883
AA Change: R234G
SMART Domains Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043
AA Change: R234G

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 noncoding transcript
Transcript: ENSMUST00000129611
Meta Mutation Damage Score 0.2534 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 100% (105/105)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A G 1: 151,980,412 probably benign Het
4932438A13Rik T C 3: 37,044,631 S1136P probably damaging Het
Akap9 G A 5: 4,055,671 S2914N probably benign Het
Alk T C 17: 71,900,734 D1002G probably damaging Het
Ap3d1 A G 10: 80,732,840 probably benign Het
Asb15 T C 6: 24,562,487 probably benign Het
Asxl3 C A 18: 22,524,507 P1858Q probably benign Het
BC003331 T A 1: 150,386,391 E99D probably benign Het
Bud31 T A 5: 145,142,578 probably benign Het
C1qtnf1 G T 11: 118,448,269 R255L probably damaging Het
Cacna2d4 C T 6: 119,307,286 R745W probably damaging Het
Cage1 C T 13: 38,022,880 E330K probably damaging Het
Catsperz T A 19: 6,924,949 N59I probably benign Het
Ccdc110 G T 8: 45,941,885 S271I probably benign Het
Ccdc88b T A 19: 6,853,213 E787V probably damaging Het
Ccna2 A T 3: 36,568,970 probably benign Het
Cd36 T A 5: 17,813,088 D209V probably damaging Het
Cers4 T A 8: 4,519,475 W161R probably damaging Het
Ces2f T A 8: 104,953,546 H442Q probably damaging Het
Chchd6 A C 6: 89,384,687 C245G probably damaging Het
Cndp1 T G 18: 84,611,625 Q481P probably benign Het
Colgalt2 A T 1: 152,503,017 D398V probably damaging Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,348,082 probably null Het
Dcdc2a C A 13: 25,056,307 Q13K probably benign Het
Dzip3 A T 16: 48,961,208 I240N probably damaging Het
Epb41l3 T A 17: 69,259,180 L452* probably null Het
Fam193b C T 13: 55,541,705 A753T probably damaging Het
Fam35a A T 14: 34,268,491 S153T possibly damaging Het
Fam47e G C 5: 92,565,922 probably benign Het
Fastkd1 A G 2: 69,708,649 probably benign Het
Fmnl1 G A 11: 103,197,370 G69D probably benign Het
Foxn2 A G 17: 88,473,666 probably benign Het
Fsip2 A G 2: 82,991,500 E5859G possibly damaging Het
Gm9894 T A 13: 67,764,701 noncoding transcript Het
H2-Bl T C 17: 36,081,091 N44S possibly damaging Het
Helz2 T C 2: 181,229,815 Y2668C probably damaging Het
Hhipl1 T A 12: 108,311,693 C93* probably null Het
Lig1 C T 7: 13,292,153 A278V probably benign Het
Lipn T A 19: 34,071,758 I108K probably benign Het
Lsamp A G 16: 42,151,229 probably benign Het
Map3k14 A G 11: 103,238,917 probably benign Het
Mdm4 A T 1: 132,991,820 C436S probably damaging Het
Mdm4 A G 1: 133,012,692 L33P probably damaging Het
Meiob T C 17: 24,836,484 W422R probably damaging Het
Mppe1 T C 18: 67,227,706 Y254C probably damaging Het
Mterf1a A T 5: 3,890,964 N301K probably benign Het
Muc6 C T 7: 141,644,233 S1210N probably damaging Het
Mycbp2 A T 14: 103,200,152 Y2091* probably null Het
Mylk G A 16: 34,874,039 R156H probably benign Het
Myo15 G T 11: 60,479,407 D998Y probably benign Het
Neb A T 2: 52,196,357 Y5235N probably damaging Het
Nop58 A G 1: 59,704,211 probably benign Het
Nr4a3 A G 4: 48,083,324 K619R probably benign Het
Nr4a3 A G 4: 48,051,564 H135R probably damaging Het
Nrg1 T C 8: 31,837,667 probably benign Het
Olfr1031 A T 2: 85,992,696 N293I probably damaging Het
Olfr1312 A T 2: 112,042,215 D272E probably benign Het
Olfr1484 T C 19: 13,586,213 V260A probably benign Het
Olfr938 T A 9: 39,078,229 D172V possibly damaging Het
Parp3 T C 9: 106,476,005 probably benign Het
Pde2a A G 7: 101,484,543 E103G probably benign Het
Pds5a A T 5: 65,635,302 probably benign Het
Pip4k2c A G 10: 127,211,393 V40A unknown Het
Pitrm1 T C 13: 6,552,744 probably benign Het
Plk4 A G 3: 40,801,847 I64M probably damaging Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Ppp2r1a T C 17: 20,951,331 probably benign Het
Ppp4r3b T A 11: 29,209,426 N172K probably damaging Het
Prkcg G A 7: 3,319,661 R357Q probably damaging Het
Prmt3 T C 7: 49,848,547 probably null Het
Prx T A 7: 27,518,007 C644* probably null Het
Ptpru A G 4: 131,808,527 probably benign Het
Rbm5 A T 9: 107,742,497 D738E probably damaging Het
Recql5 A T 11: 115,897,234 Y420N probably damaging Het
Rnf17 T C 14: 56,425,631 I152T probably benign Het
Rnpepl1 A G 1: 92,919,195 S580G possibly damaging Het
Ryr3 C T 2: 112,946,987 G275D probably damaging Het
Serpinb9e T A 13: 33,257,752 Y222* probably null Het
Slc10a1 T A 12: 80,956,028 I279F probably damaging Het
Slc12a8 G T 16: 33,662,977 G584V probably damaging Het
Slc35b3 T A 13: 38,937,331 Y311F probably benign Het
Slc44a5 A G 3: 154,257,720 probably null Het
Slc6a9 A G 4: 117,864,806 E422G possibly damaging Het
Smpd2 A G 10: 41,488,732 probably null Het
Spast A G 17: 74,381,968 probably null Het
Spink5 A T 18: 43,983,563 E208V probably benign Het
Stag1 T C 9: 100,888,453 probably benign Het
Stambp A G 6: 83,563,821 probably null Het
Sult3a2 A T 10: 33,777,192 M184K possibly damaging Het
Tcp11 T C 17: 28,071,662 D162G probably damaging Het
Themis A C 10: 28,668,748 E30A possibly damaging Het
Tmc7 G A 7: 118,551,260 S350L probably benign Het
Tmem131 A T 1: 36,834,898 Y271* probably null Het
Trim35 T A 14: 66,308,799 S338R probably benign Het
Trim42 C A 9: 97,363,620 V376F probably benign Het
Tshr A T 12: 91,538,097 K11M probably damaging Het
Vps8 A G 16: 21,459,820 probably benign Het
Wdr11 T C 7: 129,607,107 probably benign Het
Wdr26 A T 1: 181,181,294 probably benign Het
Wdtc1 A G 4: 133,297,546 Y447H probably damaging Het
Zfp687 C T 3: 95,008,473 C996Y probably damaging Het
Zfp984 A T 4: 147,755,989 V135E probably benign Het
Zranb2 T C 3: 157,541,865 probably benign Het
Other mutations in Col3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Col3a1 APN 1 45347135 missense probably damaging 1.00
IGL00928:Col3a1 APN 1 45340858 intron probably benign
IGL00958:Col3a1 APN 1 45327595 missense unknown
IGL01353:Col3a1 APN 1 45333638 unclassified probably benign
IGL01820:Col3a1 APN 1 45321608 missense unknown
IGL01839:Col3a1 APN 1 45311830 missense unknown
IGL02517:Col3a1 APN 1 45325803 critical splice acceptor site probably null
IGL02879:Col3a1 APN 1 45340959 intron probably benign
IGL02960:Col3a1 APN 1 45328455 missense unknown
IGL03245:Col3a1 APN 1 45331109 unclassified probably benign
IGL03308:Col3a1 APN 1 45330617 splice site probably benign
Kraken UTSW 1 45327866 splice site probably null
IGL03050:Col3a1 UTSW 1 45328925 splice site probably null
PIT4520001:Col3a1 UTSW 1 45335783 critical splice donor site probably null
R0063:Col3a1 UTSW 1 45330541 splice site probably benign
R0122:Col3a1 UTSW 1 45340897 intron probably benign
R0131:Col3a1 UTSW 1 45328868 splice site probably benign
R0762:Col3a1 UTSW 1 45321526 missense unknown
R0765:Col3a1 UTSW 1 45336651 unclassified probably benign
R0853:Col3a1 UTSW 1 45343324 intron probably benign
R0898:Col3a1 UTSW 1 45333993 unclassified probably benign
R1170:Col3a1 UTSW 1 45347724 missense probably damaging 1.00
R1440:Col3a1 UTSW 1 45343312 splice site probably null
R1449:Col3a1 UTSW 1 45321611 missense unknown
R1526:Col3a1 UTSW 1 45321688 missense unknown
R1572:Col3a1 UTSW 1 45345968 missense possibly damaging 0.95
R1585:Col3a1 UTSW 1 45327866 splice site probably null
R1616:Col3a1 UTSW 1 45328488 critical splice donor site probably null
R1691:Col3a1 UTSW 1 45348616 unclassified probably benign
R1876:Col3a1 UTSW 1 45342235 splice site probably null
R1937:Col3a1 UTSW 1 45334293 unclassified probably benign
R2093:Col3a1 UTSW 1 45332990 missense probably damaging 1.00
R2110:Col3a1 UTSW 1 45330145 missense unknown
R2119:Col3a1 UTSW 1 45346121 missense probably damaging 1.00
R2256:Col3a1 UTSW 1 45321632 missense unknown
R2327:Col3a1 UTSW 1 45338611 unclassified probably benign
R2518:Col3a1 UTSW 1 45337512 unclassified probably benign
R2991:Col3a1 UTSW 1 45335779 unclassified probably benign
R3405:Col3a1 UTSW 1 45338753 unclassified probably benign
R3784:Col3a1 UTSW 1 45347135 missense probably damaging 1.00
R3847:Col3a1 UTSW 1 45321990 missense unknown
R3848:Col3a1 UTSW 1 45321990 missense unknown
R3849:Col3a1 UTSW 1 45321990 missense unknown
R4502:Col3a1 UTSW 1 45348677 unclassified probably benign
R4503:Col3a1 UTSW 1 45348677 unclassified probably benign
R4764:Col3a1 UTSW 1 45346110 missense probably damaging 1.00
R4839:Col3a1 UTSW 1 45323803 splice site probably null
R4934:Col3a1 UTSW 1 45339952 unclassified probably benign
R5033:Col3a1 UTSW 1 45346110 missense probably damaging 1.00
R5123:Col3a1 UTSW 1 45333596 unclassified probably benign
R5190:Col3a1 UTSW 1 45329084 missense unknown
R5190:Col3a1 UTSW 1 45344807 intron probably benign
R5375:Col3a1 UTSW 1 45347899 splice site probably null
R5407:Col3a1 UTSW 1 45346052 missense probably benign 0.03
R5627:Col3a1 UTSW 1 45331560 unclassified probably benign
R5642:Col3a1 UTSW 1 45331712 unclassified probably benign
R6014:Col3a1 UTSW 1 45321579 nonsense probably null
R6052:Col3a1 UTSW 1 45345013 unclassified probably benign
R6263:Col3a1 UTSW 1 45321575 missense unknown
R6453:Col3a1 UTSW 1 45339378 unclassified probably benign
R6463:Col3a1 UTSW 1 45342205 intron probably benign
R6488:Col3a1 UTSW 1 45331534 unclassified probably benign
R6525:Col3a1 UTSW 1 45347179 missense possibly damaging 0.88
R6637:Col3a1 UTSW 1 45347730 missense probably damaging 1.00
R6704:Col3a1 UTSW 1 45347732 missense probably damaging 1.00
R6744:Col3a1 UTSW 1 45338622 unclassified probably benign
R6745:Col3a1 UTSW 1 45338622 unclassified probably benign
R6747:Col3a1 UTSW 1 45338622 unclassified probably benign
R6858:Col3a1 UTSW 1 45345984 missense probably damaging 1.00
R6903:Col3a1 UTSW 1 45331988 missense probably damaging 0.96
R7189:Col3a1 UTSW 1 45333657 missense unknown
R7194:Col3a1 UTSW 1 45331700 missense unknown
R7199:Col3a1 UTSW 1 45332141 missense probably null 0.99
R7204:Col3a1 UTSW 1 45322418 missense unknown
R7304:Col3a1 UTSW 1 45347811 missense unknown
R7378:Col3a1 UTSW 1 45327647 splice site probably null
R7398:Col3a1 UTSW 1 45327813 missense unknown
R7742:Col3a1 UTSW 1 45345001 missense unknown
R8072:Col3a1 UTSW 1 45321574 missense unknown
R8177:Col3a1 UTSW 1 45335764 missense unknown
R8183:Col3a1 UTSW 1 45334810 missense unknown
R8445:Col3a1 UTSW 1 45341180 nonsense probably null
R8490:Col3a1 UTSW 1 45345956 missense probably benign 0.01
R8546:Col3a1 UTSW 1 45340939 intron probably benign
Z1177:Col3a1 UTSW 1 45311800 missense unknown
Predicted Primers
Posted On2014-01-15