Incidental Mutation 'R7207:Col1a1'
ID 560712
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7207 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 94827050-94843868 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94829352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 121 (R121Q)
Ref Sequence ENSEMBL: ENSMUSP00000001547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001547]
AlphaFold P11087
Predicted Effect unknown
Transcript: ENSMUST00000001547
AA Change: R121Q
SMART Domains Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: R121Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,527,734 (GRCm39) Y1019H probably benign Het
Adam11 C A 11: 102,662,883 (GRCm39) A212D probably benign Het
Adamts13 C A 2: 26,868,707 (GRCm39) H230Q probably damaging Het
Adgrl3 G A 5: 81,457,874 (GRCm39) M1I probably null Het
Agap1 A T 1: 89,770,821 (GRCm39) H657L possibly damaging Het
Ano3 T C 2: 110,611,768 (GRCm39) D238G probably damaging Het
Atp8b5 A T 4: 43,357,018 (GRCm39) I589F probably damaging Het
Bmp1 C T 14: 70,717,000 (GRCm39) A859T possibly damaging Het
Cdh20 C A 1: 104,921,702 (GRCm39) D666E probably damaging Het
Cep135 T G 5: 76,780,090 (GRCm39) D807E probably benign Het
Cldn13 G A 5: 134,943,766 (GRCm39) H140Y probably benign Het
Cnksr1 G T 4: 133,962,434 (GRCm39) Q155K possibly damaging Het
Coro6 G A 11: 77,358,089 (GRCm39) A225T possibly damaging Het
Ctse C A 1: 131,592,112 (GRCm39) T146K possibly damaging Het
Dhrs7b C A 11: 60,746,623 (GRCm39) Y237* probably null Het
Dnah3 A G 7: 119,570,312 (GRCm39) F2303L probably damaging Het
Dsg2 T A 18: 20,734,516 (GRCm39) D831E probably damaging Het
Dst T C 1: 34,202,418 (GRCm39) S575P probably damaging Het
Epg5 T C 18: 77,992,170 (GRCm39) L289P probably damaging Het
Etl4 A G 2: 20,714,387 (GRCm39) N162S probably damaging Het
Fbf1 A T 11: 116,040,300 (GRCm39) Y602N probably benign Het
Fgd4 A T 16: 16,302,420 (GRCm39) M45K probably benign Het
Fryl C T 5: 73,222,438 (GRCm39) V2048I probably benign Het
Gulp1 T C 1: 44,805,292 (GRCm39) V127A possibly damaging Het
H2-DMb1 T A 17: 34,376,490 (GRCm39) I203N probably damaging Het
Harbi1 T C 2: 91,542,790 (GRCm39) S84P probably damaging Het
Hrh2 T C 13: 54,368,266 (GRCm39) S81P possibly damaging Het
Iars1 T C 13: 49,841,791 (GRCm39) probably null Het
Kcnma1 T C 14: 23,359,083 (GRCm39) *1087W probably null Het
Lama5 T A 2: 179,848,877 (GRCm39) N241I probably damaging Het
Lig4 T A 8: 10,022,101 (GRCm39) K560* probably null Het
Lpin3 G T 2: 160,735,923 (GRCm39) E68* probably null Het
Mrtfb A T 16: 13,144,300 (GRCm39) I7L probably benign Het
Msrb3 A T 10: 120,627,305 (GRCm39) probably null Het
Muc5b A G 7: 141,416,602 (GRCm39) T3183A probably benign Het
Mx1 T A 16: 97,253,398 (GRCm39) D342V probably benign Het
Nrap G T 19: 56,333,953 (GRCm39) T1003K probably damaging Het
Or8u10 A G 2: 85,915,159 (GRCm39) S321P possibly damaging Het
Plxna2 C T 1: 194,326,327 (GRCm39) P87L probably damaging Het
Pms2 C T 5: 143,850,452 (GRCm39) T89I probably damaging Het
Ppp1r12c C A 7: 4,492,867 (GRCm39) R203L probably damaging Het
Pramel31 A G 4: 144,088,473 (GRCm39) T90A probably benign Het
Rab44 C T 17: 29,357,013 (GRCm39) Q48* probably null Het
Rgs14 T C 13: 55,531,047 (GRCm39) V417A probably benign Het
Sgms1 T A 19: 32,120,147 (GRCm39) K253M probably null Het
Sidt2 T C 9: 45,856,449 (GRCm39) Y492C probably damaging Het
Slco1a5 G T 6: 142,194,475 (GRCm39) Y389* probably null Het
Slfn14 G A 11: 83,170,214 (GRCm39) Q477* probably null Het
Sorbs3 T C 14: 70,438,934 (GRCm39) K142R probably damaging Het
Sphk1 A T 11: 116,426,590 (GRCm39) D182V probably damaging Het
Srsf9 C G 5: 115,465,481 (GRCm39) Y38* probably null Het
Stk40 A C 4: 126,019,547 (GRCm39) E107A probably damaging Het
Syngr4 T C 7: 45,538,101 (GRCm39) Y89C possibly damaging Het
Tead1 G A 7: 112,441,287 (GRCm39) R109H possibly damaging Het
Thra A G 11: 98,651,802 (GRCm39) Q108R probably damaging Het
Tnni3k G A 3: 154,580,782 (GRCm39) T621I probably damaging Het
Trim3 A C 7: 105,262,583 (GRCm39) V525G possibly damaging Het
Usp49 T C 17: 47,989,802 (GRCm39) V529A probably benign Het
Vill A T 9: 118,900,281 (GRCm39) Q849L possibly damaging Het
Vps36 T A 8: 22,701,623 (GRCm39) S237T probably benign Het
Zar1l A T 5: 150,430,558 (GRCm39) C284* probably null Het
Zfp948 T C 17: 21,808,602 (GRCm39) V598A possibly damaging Het
Zfp952 T C 17: 33,222,489 (GRCm39) Y323H possibly 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
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
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'- TCCAATAAACTGCAGTTTTCTTTGC -3'
(R):5'- CTATGTCTGACAAAACCAAAGCA -3'

Sequencing Primer
(F):5'- ATAAACTGCAGTTTTCTTTGCTTCTC -3'
(R):5'- TGACAAAACCAAAGCAAAGAAAAAC -3'
Posted On 2019-06-26