Incidental Mutation 'IGL00834:Col1a1'
ID 9810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col1a1
Ensembl Gene ENSMUSG00000001506
Gene Name collagen, type I, alpha 1
Synonyms Mov-13, Cola1, Cola-1, Col1a-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00834
Quality Score
Status
Chromosome 11
Chromosomal Location 94827050-94843868 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94840204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1084 (D1084G)
Ref Sequence ENSEMBL: ENSMUSP00000001547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001547]
AlphaFold P11087
Predicted Effect unknown
Transcript: ENSMUST00000001547
AA Change: D1084G
SMART Domains Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: D1084G

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: ENSMUST00000148046
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A G 13: 4,562,664 (GRCm39) probably null Het
Alg5 T C 3: 54,652,140 (GRCm39) probably benign Het
App A T 16: 84,762,599 (GRCm39) F675I probably damaging Het
Atad1 C A 19: 32,675,968 (GRCm39) C152F probably benign Het
Atp2a3 A C 11: 72,873,613 (GRCm39) I829L probably damaging Het
B3galt1 C T 2: 67,949,050 (GRCm39) S255L probably damaging Het
Bptf A G 11: 106,964,754 (GRCm39) V1417A possibly damaging Het
Cast T A 13: 74,885,093 (GRCm39) T219S probably damaging Het
Cep95 A T 11: 106,709,043 (GRCm39) I705F probably damaging Het
Cnot3 C T 7: 3,653,854 (GRCm39) A2V probably damaging Het
Col5a3 G A 9: 20,697,685 (GRCm39) Q873* probably null Het
Cubn C T 2: 13,386,738 (GRCm39) G1509D probably damaging Het
Defb10 T A 8: 22,351,952 (GRCm39) C66S possibly damaging Het
Dennd4b T C 3: 90,186,993 (GRCm39) probably null Het
Dido1 G A 2: 180,331,319 (GRCm39) T43M possibly damaging Het
Hmcn1 C T 1: 150,506,091 (GRCm39) V3812I probably benign Het
Islr2 T C 9: 58,107,069 (GRCm39) T64A probably benign Het
Kif2b A T 11: 91,467,206 (GRCm39) I359N probably damaging Het
Kit A C 5: 75,806,619 (GRCm39) N704T probably damaging Het
Ksr1 A G 11: 78,918,343 (GRCm39) F604L probably damaging Het
Lrp5 A T 19: 3,699,404 (GRCm39) F294I probably benign Het
Lrrn1 A G 6: 107,545,269 (GRCm39) T356A probably benign Het
Mrps17 G A 5: 129,793,829 (GRCm39) V8I probably benign Het
Nop56 T A 2: 130,117,915 (GRCm39) H130Q possibly damaging Het
Plg T A 17: 12,630,380 (GRCm39) L639Q probably damaging Het
Ppcdc A G 9: 57,322,423 (GRCm39) F159L probably benign Het
Ppp1ca A G 19: 4,244,519 (GRCm39) T193A probably benign Het
Prpf39 A G 12: 65,090,037 (GRCm39) D117G probably damaging Het
Ranbp2 C A 10: 58,289,145 (GRCm39) T51K possibly damaging Het
Sytl2 A G 7: 90,031,844 (GRCm39) probably benign Het
Tenm2 T A 11: 35,915,085 (GRCm39) I2150F probably damaging Het
Wdr11 T G 7: 129,194,817 (GRCm39) probably null Het
Other mutations in Col1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06