Incidental Mutation 'R4934:Col3a1'
ID 380756
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 042534-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # R4934 (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 45379112 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 unknown
Transcript: ENSMUST00000087883
AA Change: A841T
SMART Domains Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043
AA Change: A841T

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 unknown
Transcript: ENSMUST00000185687
AA Change: A152T
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
Meta Mutation Damage Score 0.1300 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 99% (134/135)
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: 125 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428L18Rik A T 1: 31,261,580 (GRCm39) probably benign Het
Acy1 T A 9: 106,312,321 (GRCm39) I14F probably null Het
Ago1 T C 4: 126,342,652 (GRCm39) D193G possibly damaging Het
Arhgap45 A T 10: 79,856,791 (GRCm39) H201L probably damaging Het
Armc9 G A 1: 86,140,801 (GRCm39) D63N probably damaging Het
Asb17 A T 3: 153,556,336 (GRCm39) I148F possibly damaging Het
Atf7ip2 A G 16: 10,059,447 (GRCm39) E329G possibly damaging Het
Atp2a1 T A 7: 126,052,600 (GRCm39) D373V probably benign Het
Cacna1e G T 1: 154,357,380 (GRCm39) Y603* probably null Het
Cbln4 G A 2: 171,880,901 (GRCm39) T131I probably damaging Het
Ccdc126 A G 6: 49,311,181 (GRCm39) E63G probably damaging Het
Ccl4 T A 11: 83,553,504 (GRCm39) S6T unknown Het
Ccnb1 A T 13: 100,918,209 (GRCm39) I146K possibly damaging Het
Ccr8 T A 9: 119,923,815 (GRCm39) M310K probably benign Het
Cd180 A T 13: 102,875,672 (GRCm39) probably null Het
Cd46 G C 1: 194,765,107 (GRCm39) probably benign Het
Cebpb A G 2: 167,531,005 (GRCm39) M22V probably benign Het
Cep152 A G 2: 125,453,016 (GRCm39) I352T possibly damaging Het
Cep295 T G 9: 15,244,456 (GRCm39) E1333D probably damaging Het
Ces4a A G 8: 105,864,613 (GRCm39) H30R probably benign Het
Chrm3 A G 13: 9,927,450 (GRCm39) Y529H probably damaging Het
Chrnb4 T C 9: 54,942,101 (GRCm39) Y391C probably benign Het
Clca3a2 A G 3: 144,523,692 (GRCm39) Y98H probably damaging Het
Clvs1 C T 4: 9,424,216 (GRCm39) H221Y possibly damaging Het
Cpn2 T G 16: 30,079,344 (GRCm39) N119T probably damaging Het
Cspg4b C A 13: 113,504,882 (GRCm39) Q2004K probably damaging Het
Cubn T A 2: 13,494,721 (GRCm39) Q109H probably benign Het
Cyp26b1 A G 6: 84,553,954 (GRCm39) V221A possibly damaging Het
Cyp2e1 T G 7: 140,350,030 (GRCm39) N238K probably damaging Het
Dst C T 1: 34,247,669 (GRCm39) A1693V probably damaging Het
Dync2li1 A G 17: 84,956,683 (GRCm39) Q281R probably benign Het
Enpp2 C T 15: 54,745,543 (GRCm39) G318S probably damaging Het
Entrep1 T C 19: 23,950,789 (GRCm39) *597W probably null Het
F13a1 G T 13: 37,061,736 (GRCm39) P676T probably benign Het
Fam227a T C 15: 79,521,262 (GRCm39) H267R possibly damaging Het
Fam78a G A 2: 31,959,427 (GRCm39) R228C probably damaging Het
Fbxw25 T C 9: 109,480,705 (GRCm39) N325S possibly damaging Het
Foxred1 T C 9: 35,121,210 (GRCm39) probably benign Het
Fstl5 T A 3: 76,496,272 (GRCm39) V345E probably damaging Het
Fzd8 GAAAAACTCA GA 18: 9,214,492 (GRCm39) probably null Het
Hand1 T C 11: 57,722,078 (GRCm39) R179G possibly damaging Het
Hk1 G T 10: 62,194,165 (GRCm39) probably benign Het
Hmcn1 A C 1: 150,598,286 (GRCm39) L1672R probably damaging Het
Hps5 G A 7: 46,418,775 (GRCm39) Q297* probably null Het
Iars1 T A 13: 49,871,460 (GRCm39) F699I probably benign Het
Ift140 G A 17: 25,267,462 (GRCm39) G620E probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Inpp4a T G 1: 37,426,922 (GRCm39) Y628D possibly damaging Het
Itk C T 11: 46,280,152 (GRCm39) R29H probably damaging Het
Kcnv1 A G 15: 44,972,644 (GRCm39) F413S probably damaging Het
Klhl3 A T 13: 58,250,231 (GRCm39) Y4* probably null Het
Lonrf1 C A 8: 36,701,103 (GRCm39) C369F probably damaging Het
Magohb A T 6: 131,261,558 (GRCm39) probably benign Het
Map3k4 G A 17: 12,490,787 (GRCm39) R215C probably damaging Het
Map3k8 A T 18: 4,339,548 (GRCm39) S274R possibly damaging Het
Masp1 T G 16: 23,283,826 (GRCm39) M470L probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Muc4 A T 16: 32,576,472 (GRCm39) probably benign Het
Myo1c T A 11: 75,562,676 (GRCm39) V981E probably damaging Het
Nedd9 A T 13: 41,492,411 (GRCm39) I27K probably damaging Het
Nkd2 C A 13: 73,970,841 (GRCm39) G247V probably damaging Het
Nucb2 A C 7: 116,139,199 (GRCm39) Q398P possibly damaging Het
Numa1 T A 7: 101,660,064 (GRCm39) D376E probably benign Het
Or2w1 G A 13: 21,317,241 (GRCm39) V99I probably benign Het
Or4c101 C T 2: 88,389,930 (GRCm39) T39I probably benign Het
Or4n5 T C 14: 50,133,206 (GRCm39) T18A probably benign Het
Or4p23 A T 2: 88,576,398 (GRCm39) L278* probably null Het
Or4q3 C T 14: 50,583,345 (GRCm39) V185M probably damaging Het
Or5b119 G A 19: 13,456,956 (GRCm39) T202I possibly damaging Het
Or6c76b A T 10: 129,692,896 (GRCm39) N170Y possibly damaging Het
Or8d23 A T 9: 38,842,129 (GRCm39) I221F probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pamr1 C T 2: 102,472,549 (GRCm39) T616I probably benign Het
Pcnx1 G A 12: 82,038,599 (GRCm39) V1955I possibly damaging Het
Pira13 A G 7: 3,825,676 (GRCm39) Y398H probably damaging Het
Plekha3 T A 2: 76,510,571 (GRCm39) D35E possibly damaging Het
Pnpla2 T G 7: 141,038,085 (GRCm39) N184K probably damaging Het
Polr3a C T 14: 24,502,692 (GRCm39) E1216K probably benign Het
Ppp1r21 A T 17: 88,852,803 (GRCm39) S61C probably damaging Het
Ppp1r21 G C 17: 88,852,804 (GRCm39) S61T probably damaging Het
Prdm13 G T 4: 21,678,223 (GRCm39) probably benign Het
Prss53 T C 7: 127,487,879 (GRCm39) N201S probably benign Het
Rab11fip2 A G 19: 59,924,290 (GRCm39) L338S probably damaging Het
Rad50 T C 11: 53,575,102 (GRCm39) N546S probably benign Het
Ralgapa1 T C 12: 55,809,359 (GRCm39) D472G possibly damaging Het
Rexo4 A G 2: 26,850,346 (GRCm39) I277T probably damaging Het
Rimbp2 C T 5: 128,865,579 (GRCm39) V590I probably benign Het
Ripor3 A G 2: 167,824,736 (GRCm39) V864A probably benign Het
Rnpc3 G A 3: 113,418,628 (GRCm39) H107Y possibly damaging Het
Ryr1 A T 7: 28,767,520 (GRCm39) D2927E probably damaging Het
Samd9l G A 6: 3,375,621 (GRCm39) Q547* probably null Het
Scaper T C 9: 55,716,459 (GRCm39) E724G probably damaging Het
Secisbp2l C T 2: 125,582,409 (GRCm39) V1016I probably damaging Het
Selenoo T A 15: 88,982,970 (GRCm39) M499K probably damaging Het
Sema4a T A 3: 88,345,568 (GRCm39) D505V probably damaging Het
Sema5a T C 15: 32,679,310 (GRCm39) M863T probably damaging Het
Slc24a5 T C 2: 124,929,940 (GRCm39) C414R probably damaging Het
Slc34a2 A G 5: 53,224,942 (GRCm39) D361G probably damaging Het
Slc5a1 T C 5: 33,261,858 (GRCm39) Y20H probably benign Het
Slx4ip A T 2: 136,910,267 (GRCm39) probably benign Het
Snx14 T A 9: 88,280,341 (GRCm39) E538V probably damaging Het
Sspo C A 6: 48,442,486 (GRCm39) L1994I probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stap2 A G 17: 56,304,901 (GRCm39) S294P possibly damaging Het
Stat1 C A 1: 52,193,082 (GRCm39) Y651* probably null Het
Syne2 A G 12: 75,946,046 (GRCm39) T373A probably benign Het
Tacc2 A G 7: 130,330,318 (GRCm39) S201G probably damaging Het
Tdpoz3 G A 3: 93,734,287 (GRCm39) E321K probably benign Het
Thumpd1 T C 7: 119,316,002 (GRCm39) T316A probably benign Het
Tlr3 A T 8: 45,850,072 (GRCm39) C866S probably benign Het
Tmprss11g T A 5: 86,644,401 (GRCm39) I148F probably benign Het
Topbp1 T A 9: 103,205,568 (GRCm39) probably benign Het
Tpm1 T C 9: 66,935,331 (GRCm39) probably null Het
Traf3ip2 T A 10: 39,502,096 (GRCm39) S81R probably damaging Het
Trim29 T A 9: 43,222,265 (GRCm39) N31K probably benign Het
Ubn2 C T 6: 38,467,433 (GRCm39) P563S probably benign Het
Usp24 T C 4: 106,283,743 (GRCm39) Y2418H probably benign Het
Vmn2r6 T A 3: 64,463,766 (GRCm39) D267V probably damaging Het
Wapl T A 14: 34,414,052 (GRCm39) C305S probably benign Het
Yme1l1 C A 2: 23,058,333 (GRCm39) S155* probably null Het
Ythdf3 T A 3: 16,258,220 (GRCm39) H126Q probably damaging Het
Zbtb32 A T 7: 30,290,678 (GRCm39) C206S possibly damaging Het
Zbtb47 T C 9: 121,593,045 (GRCm39) V455A probably damaging Het
Zfp518a A T 19: 40,902,707 (GRCm39) I879F probably benign Het
Zfp938 A T 10: 82,062,012 (GRCm39) Y203N possibly 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
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
Predicted Primers PCR Primer
(F):5'- GAGCCTCCTATCCCTATTTGATGG -3'
(R):5'- GCTCCCTGAAGAGATTAAATTAGCTC -3'

Sequencing Primer
(F):5'- CAGATGGTCACTGTTGCT -3'
(R):5'- GCTCACCTATGATCATATCCAA -3'
Posted On 2016-04-15