Incidental Mutation 'R5110:Col1a1'
ID 393811
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 042698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5110 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94827050-94843868 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 94832419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001547] [ENSMUST00000001547] [ENSMUST00000001547]
AlphaFold P11087
Predicted Effect probably null
Transcript: ENSMUST00000001547
SMART Domains Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506

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
Predicted Effect probably null
Transcript: ENSMUST00000001547
SMART Domains Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506

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
Predicted Effect probably null
Transcript: ENSMUST00000001547
SMART Domains Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148593
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 100% (61/61)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C A 9: 124,057,987 (GRCm39) probably null Het
2310016G11Rik G A 7: 44,327,286 (GRCm39) noncoding transcript Het
Abi2 G A 1: 60,489,280 (GRCm39) V98I probably benign Het
Adam21 T C 12: 81,606,989 (GRCm39) T258A probably benign Het
Adam33 A T 2: 130,895,690 (GRCm39) C542S probably damaging Het
Adamts15 A G 9: 30,832,740 (GRCm39) V265A probably benign Het
Ahnak A T 19: 8,992,123 (GRCm39) D4469V probably damaging Het
Aicda A G 6: 122,538,144 (GRCm39) N101D probably benign Het
Als2 A T 1: 59,224,600 (GRCm39) D1040E probably damaging Het
Car15 T C 16: 17,653,211 (GRCm39) R319G possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Col25a1 A G 3: 130,378,374 (GRCm39) *594W probably null Het
Cwf19l2 A G 9: 3,450,012 (GRCm39) probably null Het
Dctn4 C T 18: 60,679,387 (GRCm39) P236S probably damaging Het
Dennd2b A G 7: 109,141,697 (GRCm39) S556P probably benign Het
Ehmt1 C A 2: 24,742,802 (GRCm39) C459F probably benign Het
Enox1 T C 14: 77,945,127 (GRCm39) probably null Het
Fam136b-ps A G 15: 31,276,856 (GRCm39) probably benign Het
Fzd1 T C 5: 4,806,448 (GRCm39) D378G probably benign Het
Golga5 G A 12: 102,438,336 (GRCm39) R17Q probably benign Het
Hk1 A T 10: 62,122,430 (GRCm39) Y422N probably damaging Het
Hsf4 A G 8: 105,999,427 (GRCm39) D255G probably benign Het
Ift81 A G 5: 122,689,121 (GRCm39) V665A probably benign Het
Igkv13-84 T C 6: 68,916,592 (GRCm39) F3L probably benign Het
Kcnh1 T A 1: 192,020,055 (GRCm39) S433R possibly damaging Het
Ktn1 A G 14: 47,941,744 (GRCm39) probably benign Het
Lrp4 A T 2: 91,327,417 (GRCm39) D1471V possibly damaging Het
Macf1 A T 4: 123,261,801 (GRCm39) D6990E probably damaging Het
Map3k6 G A 4: 132,974,859 (GRCm39) probably benign Het
Miox T A 15: 89,219,759 (GRCm39) D82E probably benign Het
Or4n5 T G 14: 50,133,032 (GRCm39) I76L possibly damaging Het
Ovgp1 G C 3: 105,885,099 (GRCm39) R133P probably damaging Het
Per2 G A 1: 91,357,237 (GRCm39) T642I possibly damaging Het
Pparg T C 6: 115,449,964 (GRCm39) V321A probably damaging Het
Pptc7 T A 5: 122,446,312 (GRCm39) N17K probably benign Het
Prpf19 T C 19: 10,876,651 (GRCm39) probably benign Het
Rai14 T C 15: 10,690,496 (GRCm39) probably benign Het
Sardh T C 2: 27,079,559 (GRCm39) D911G probably benign Het
Sbf2 T A 7: 109,963,864 (GRCm39) T994S probably benign Het
Slc1a1 G A 19: 28,889,208 (GRCm39) E494K probably benign Het
Smarcc1 A G 9: 110,026,852 (GRCm39) K771E possibly damaging Het
Stim1 T C 7: 101,917,629 (GRCm39) V3A unknown Het
Syne3 G A 12: 104,909,629 (GRCm39) R736C probably benign Het
Synj2 T C 17: 6,087,990 (GRCm39) V986A probably benign Het
Tinag A G 9: 76,859,289 (GRCm39) S440P probably damaging Het
Tshz2 A G 2: 169,726,117 (GRCm39) T238A possibly damaging Het
Ttc8 T C 12: 98,908,562 (GRCm39) M17T probably benign Het
Tubgcp5 G A 7: 55,458,385 (GRCm39) R432Q probably damaging Het
Ugt1a10 T A 1: 87,983,974 (GRCm39) probably null Het
Usp4 T A 9: 108,239,877 (GRCm39) I202N probably damaging Het
Vmn1r194 T G 13: 22,429,170 (GRCm39) S262R probably benign Het
Vmn2r101 T C 17: 19,831,897 (GRCm39) F631S possibly damaging Het
Vps13b T A 15: 35,770,955 (GRCm39) S2133T probably damaging Het
Zfp13 C A 17: 23,799,834 (GRCm39) V77F probably benign Het
Zscan10 T A 17: 23,828,606 (GRCm39) C306S 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
R5081:Col1a1 UTSW 11 94,842,402 (GRCm39) missense unknown
R5105:Col1a1 UTSW 11 94,833,211 (GRCm39) missense unknown
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'- GCACTGCTGTAAGTACTCCTG -3'
(R):5'- GCCCATTGCCTATGACAATCATG -3'

Sequencing Primer
(F):5'- GCTGTAAGTACTCCTGCCCCC -3'
(R):5'- TGTTCAAAGAAAGAACGTGCCTC -3'
Posted On 2016-06-15