Incidental Mutation 'R5081:Col1a1'
ID 387141
Institutional Source Beutler Lab
Gene Symbol Col1a1
Ensembl Gene ENSMUSG00000001506
Gene Name collagen, type I, alpha 1
Synonyms Mov-13, Cola1, Cola-1, Col1a-1
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94827050-94843868 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94842402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1440 (D1440G)
Ref Sequence ENSEMBL: ENSMUSP00000001547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001547]
AlphaFold P11087
Predicted Effect unknown
Transcript: ENSMUST00000001547
AA Change: D1440G
SMART Domains Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: D1440G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VWC 31 86 1.04e-16 SMART
Pfam:Collagen 97 154 1.1e-9 PFAM
Pfam:Collagen 166 227 7e-10 PFAM
Pfam:Collagen 225 284 2.4e-13 PFAM
Pfam:Collagen 285 344 5.9e-12 PFAM
low complexity region 354 426 N/A INTRINSIC
internal_repeat_4 427 444 4.93e-7 PROSPERO
low complexity region 447 486 N/A INTRINSIC
low complexity region 495 516 N/A INTRINSIC
low complexity region 527 567 N/A INTRINSIC
internal_repeat_3 570 588 1.25e-9 PROSPERO
low complexity region 590 600 N/A INTRINSIC
low complexity region 603 627 N/A INTRINSIC
low complexity region 629 651 N/A INTRINSIC
internal_repeat_1 652 675 6.29e-11 PROSPERO
internal_repeat_4 658 675 4.93e-7 PROSPERO
low complexity region 678 699 N/A INTRINSIC
low complexity region 702 717 N/A INTRINSIC
internal_repeat_2 718 738 2.08e-10 PROSPERO
internal_repeat_1 718 741 6.29e-11 PROSPERO
internal_repeat_3 726 744 1.25e-9 PROSPERO
internal_repeat_5 737 752 9.8e-6 PROSPERO
Pfam:Collagen 768 827 2.8e-12 PFAM
Pfam:Collagen 828 887 6.8e-11 PFAM
internal_repeat_5 944 959 9.8e-6 PROSPERO
internal_repeat_2 952 972 2.08e-10 PROSPERO
Pfam:Collagen 1008 1077 4.8e-8 PFAM
Pfam:Collagen 1068 1127 1.2e-12 PFAM
Pfam:Collagen 1122 1184 2.8e-9 PFAM
PDB:3HR2|C 1185 1205 6e-6 PDB
COLFI 1217 1453 2.04e-162 SMART
Meta Mutation Damage Score 0.2573 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: This gene encodes the alpha-1 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-2 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice lacking the encoded protein die in utero caused by the rupture of a major blood vessel. Transgenic mice expressing significantly lower levels of this gene exhibit morphological and functional defects in mineralized and non-mineralized connective tissue and, progressive loss of hearing. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection. [provided by MGI curators]
Allele List at MGI

All alleles(46) : Targeted(40) Gene trapped(3) Transgenic(1) Chemically induced(2)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging Het
Other mutations in Col1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Col1a1 APN 11 94,840,204 (GRCm39) missense unknown
IGL01383:Col1a1 APN 11 94,836,351 (GRCm39) missense probably damaging 1.00
IGL01717:Col1a1 APN 11 94,841,603 (GRCm39) missense unknown
IGL02889:Col1a1 APN 11 94,842,335 (GRCm39) missense unknown
seal UTSW 11 94,838,009 (GRCm39) splice site probably benign
walrus UTSW 11 94,833,211 (GRCm39) missense unknown
R0121:Col1a1 UTSW 11 94,828,895 (GRCm39) missense unknown
R0400:Col1a1 UTSW 11 94,832,195 (GRCm39) splice site probably benign
R0545:Col1a1 UTSW 11 94,842,420 (GRCm39) missense unknown
R0661:Col1a1 UTSW 11 94,840,215 (GRCm39) missense unknown
R1220:Col1a1 UTSW 11 94,841,957 (GRCm39) missense unknown
R1717:Col1a1 UTSW 11 94,839,218 (GRCm39) missense unknown
R1732:Col1a1 UTSW 11 94,835,241 (GRCm39) splice site probably benign
R1879:Col1a1 UTSW 11 94,842,051 (GRCm39) missense unknown
R1880:Col1a1 UTSW 11 94,841,394 (GRCm39) missense unknown
R1901:Col1a1 UTSW 11 94,837,458 (GRCm39) splice site probably null
R2113:Col1a1 UTSW 11 94,839,188 (GRCm39) missense unknown
R2386:Col1a1 UTSW 11 94,841,217 (GRCm39) missense unknown
R3803:Col1a1 UTSW 11 94,828,895 (GRCm39) missense unknown
R4839:Col1a1 UTSW 11 94,840,921 (GRCm39) critical splice acceptor site probably null
R4936:Col1a1 UTSW 11 94,837,958 (GRCm39) missense unknown
R5105:Col1a1 UTSW 11 94,833,211 (GRCm39) missense unknown
R5110:Col1a1 UTSW 11 94,832,419 (GRCm39) critical splice donor site probably null
R5247:Col1a1 UTSW 11 94,838,013 (GRCm39) splice site probably null
R5773:Col1a1 UTSW 11 94,830,255 (GRCm39) missense probably benign 0.10
R5776:Col1a1 UTSW 11 94,840,550 (GRCm39) missense unknown
R5991:Col1a1 UTSW 11 94,828,745 (GRCm39) missense unknown
R6415:Col1a1 UTSW 11 94,830,986 (GRCm39) missense unknown
R6483:Col1a1 UTSW 11 94,833,444 (GRCm39) splice site probably null
R7207:Col1a1 UTSW 11 94,829,352 (GRCm39) missense unknown
R7853:Col1a1 UTSW 11 94,838,505 (GRCm39) missense unknown
R8219:Col1a1 UTSW 11 94,834,184 (GRCm39) missense probably damaging 1.00
R8228:Col1a1 UTSW 11 94,836,426 (GRCm39) critical splice donor site probably null
R8751:Col1a1 UTSW 11 94,838,100 (GRCm39) missense unknown
R8787:Col1a1 UTSW 11 94,833,634 (GRCm39) missense possibly damaging 0.95
R9278:Col1a1 UTSW 11 94,838,103 (GRCm39) missense unknown
R9656:Col1a1 UTSW 11 94,839,372 (GRCm39) missense unknown
R9662:Col1a1 UTSW 11 94,836,667 (GRCm39) missense probably benign 0.01
RF007:Col1a1 UTSW 11 94,833,866 (GRCm39) missense probably damaging 1.00
Z1177:Col1a1 UTSW 11 94,834,630 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- TCTGGCAGAACAGAGTGAGC -3'
(R):5'- TTGGTCACGTTCAGTTGGTCAAAG -3'

Sequencing Primer
(F):5'- GAGCCTCACTTCATTCCTACCTTGG -3'
(R):5'- CGTTCAGTTGGTCAAAGGTAAAAAC -3'
Posted On 2016-06-06