Incidental Mutation 'R5375:Col3a1'
ID 428984
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 042951-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.766) question?
Stock # R5375 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 45350698-45388866 bp(+) (GRCm39)
Type of Mutation splice site (133 bp from exon)
DNA Base Change (assembly) A to G at 45387059 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 null
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 null
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 T A 12: 4,260,870 (GRCm39) N995K probably damaging Het
Aldh4a1 T C 4: 139,361,233 (GRCm39) M60T probably benign Het
Alpk2 A T 18: 65,505,809 (GRCm39) H70Q probably damaging Het
Babam2 T A 5: 31,859,207 (GRCm39) I5N possibly damaging Het
Blm T C 7: 80,162,977 (GRCm39) T125A probably benign Het
Bloc1s1 T C 10: 128,759,826 (GRCm39) probably benign Het
Calcr G T 6: 3,714,651 (GRCm39) Q160K probably benign Het
Ccdc43 C T 11: 102,581,058 (GRCm39) A131T probably damaging Het
Cdh15 A T 8: 123,591,839 (GRCm39) N575Y probably damaging Het
Chd8 T C 14: 52,441,611 (GRCm39) D827G probably damaging Het
Creb5 A T 6: 53,658,002 (GRCm39) M255L possibly damaging Het
Cst8 A G 2: 148,646,503 (GRCm39) I78V probably benign Het
Cyld A G 8: 89,459,664 (GRCm39) E440G possibly damaging Het
Cyp2b9 A C 7: 25,887,167 (GRCm39) D192A probably damaging Het
Dclre1b C T 3: 103,711,290 (GRCm39) R207H probably damaging Het
Dnah6 A T 6: 73,100,838 (GRCm39) F1936L probably damaging Het
Dpp9 A C 17: 56,496,424 (GRCm39) Y761* probably null Het
Drc1 A T 5: 30,513,745 (GRCm39) M434L probably benign Het
Dtx3l A T 16: 35,753,397 (GRCm39) I403N probably damaging Het
Ecpas T A 4: 58,809,401 (GRCm39) K1658* probably null Het
Efcab9 A G 11: 32,477,484 (GRCm39) Y13H probably damaging Het
Efhb T A 17: 53,708,654 (GRCm39) N672I possibly damaging Het
Eif5b T C 1: 38,084,835 (GRCm39) V894A possibly damaging Het
Elovl3 T C 19: 46,123,135 (GRCm39) F237S probably benign Het
Emc1 T A 4: 139,093,802 (GRCm39) D637E probably damaging Het
Erbb2 C A 11: 98,324,238 (GRCm39) P742Q probably damaging Het
Fam234b C A 6: 135,210,355 (GRCm39) L584M probably damaging Het
Fancd2 A T 6: 113,545,673 (GRCm39) D14V possibly damaging Het
Fat2 T C 11: 55,153,646 (GRCm39) H3522R probably benign Het
Fgfr2 T C 7: 129,842,945 (GRCm39) N147D possibly damaging Het
Gm26657 A G 4: 56,741,180 (GRCm39) probably benign Het
Hcrtr1 C T 4: 130,029,518 (GRCm39) V188M probably benign Het
Herc1 T C 9: 66,375,169 (GRCm39) V3331A probably damaging Het
Hmcn2 T C 2: 31,320,453 (GRCm39) V3978A possibly damaging Het
Invs G A 4: 48,385,262 (GRCm39) R202K probably benign Het
Lgr5 C T 10: 115,314,469 (GRCm39) S156N probably benign Het
Mras T G 9: 99,276,669 (GRCm39) D67A probably damaging Het
Mrpl39 A G 16: 84,520,790 (GRCm39) L283P probably damaging Het
Ncoa6 A T 2: 155,275,915 (GRCm39) I110N probably benign Het
Neb T C 2: 52,102,596 (GRCm39) D544G possibly damaging Het
Nlrc3 A G 16: 3,782,617 (GRCm39) I264T possibly damaging Het
Or10a2 T A 7: 106,673,080 (GRCm39) M15K probably benign Het
Or1j13 A G 2: 36,369,309 (GRCm39) Y278H probably damaging Het
Or5k16 T C 16: 58,736,248 (GRCm39) Y252C possibly damaging Het
Or7g18 A G 9: 18,787,442 (GRCm39) K273R probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phf11d T C 14: 59,590,120 (GRCm39) D234G probably null Het
Polq A T 16: 36,903,146 (GRCm39) D1980V probably damaging Het
Rasa1 A T 13: 85,437,022 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec23a A G 12: 59,053,791 (GRCm39) V69A probably benign Het
Sipa1 A G 19: 5,709,640 (GRCm39) I260T probably damaging Het
Smarcc1 T A 9: 110,020,017 (GRCm39) L628H probably damaging Het
Snx31 A G 15: 36,525,730 (GRCm39) V323A probably damaging Het
Sun2 A G 15: 79,611,723 (GRCm39) S565P probably damaging Het
Tmem74 C T 15: 43,730,564 (GRCm39) D160N possibly damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Trp53inp1 A G 4: 11,165,305 (GRCm39) T110A probably benign Het
Ttll9 G T 2: 152,826,144 (GRCm39) C118F probably benign Het
Vps4b A G 1: 106,719,422 (GRCm39) L42P probably benign Het
Xirp2 A T 2: 67,342,250 (GRCm39) N1497I probably damaging Het
Xpo4 A G 14: 57,875,764 (GRCm39) V123A probably damaging Het
Zfhx4 A T 3: 5,477,485 (GRCm39) T3367S probably damaging Het
Zfp236 T C 18: 82,615,813 (GRCm39) E1782G possibly damaging Het
Zfp35 T A 18: 24,135,973 (GRCm39) C106S possibly damaging Het
Zfpm1 A G 8: 123,062,812 (GRCm39) T624A probably benign Het
Zmiz2 C T 11: 6,347,519 (GRCm39) Q276* probably null 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
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'- TCAGACTTCTTTCCAGCCGG -3'
(R):5'- TGAGTCACCCCTAACAGGAG -3'

Sequencing Primer
(F):5'- GGGCCTCCCAGAACATTAC -3'
(R):5'- CTGTTTTCCATCTAGAAGTTAAGGTC -3'
Posted On 2016-09-06