Incidental Mutation 'IGL01542:Col9a3'
ID90201
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col9a3
Ensembl Gene ENSMUSG00000027570
Gene Namecollagen, type IX, alpha 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.241) question?
Stock #IGL01542
Quality Score
Status
Chromosome2
Chromosomal Location180597790-180622189 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 180609316 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103059] [ENSMUST00000132527]
Predicted Effect probably benign
Transcript: ENSMUST00000103059
SMART Domains Protein: ENSMUSP00000099348
Gene: ENSMUSG00000027570

DomainStartEndE-ValueType
Pfam:Collagen 21 80 7.7e-12 PFAM
Pfam:Collagen 58 114 4.2e-9 PFAM
low complexity region 126 162 N/A INTRINSIC
Pfam:Collagen 174 236 4.1e-12 PFAM
Pfam:Collagen 213 292 8e-9 PFAM
internal_repeat_1 315 366 1.58e-12 PROSPERO
internal_repeat_2 360 382 2.94e-6 PROSPERO
low complexity region 384 396 N/A INTRINSIC
Pfam:Collagen 456 518 1.8e-11 PFAM
Pfam:Collagen 545 606 3.8e-11 PFAM
low complexity region 635 656 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129090
Predicted Effect probably benign
Transcript: ENSMUST00000132527
SMART Domains Protein: ENSMUSP00000128718
Gene: ENSMUSG00000027570

DomainStartEndE-ValueType
Pfam:Collagen 21 80 7.9e-12 PFAM
Pfam:Collagen 58 114 4.3e-9 PFAM
Pfam:Collagen 109 166 4.5e-8 PFAM
Pfam:Collagen 174 236 4.2e-12 PFAM
Pfam:Collagen 213 292 8.2e-9 PFAM
internal_repeat_1 315 366 1.58e-12 PROSPERO
internal_repeat_2 360 382 2.94e-6 PROSPERO
low complexity region 384 396 N/A INTRINSIC
Pfam:Collagen 402 474 8.2e-8 PFAM
Pfam:Collagen 456 518 1.8e-11 PFAM
Pfam:Collagen 545 606 3.9e-11 PFAM
Pfam:Collagen 603 662 2.5e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165879
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A G 1: 177,743,384 T95A possibly damaging Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arhgap20 A G 9: 51,838,887 M316V probably benign Het
Chd7 T G 4: 8,859,285 N2458K possibly damaging Het
Clock T C 5: 76,231,475 E538G possibly damaging Het
Clpb G A 7: 101,787,505 V596I probably damaging Het
D130043K22Rik G A 13: 24,876,037 probably null Het
Drd4 T C 7: 141,293,831 probably benign Het
Fam228b A T 12: 4,763,055 I105N probably damaging Het
Gm20939 A T 17: 94,874,293 probably benign Het
Gm4952 A G 19: 12,618,407 T54A possibly damaging Het
Hbs1l T C 10: 21,307,756 V132A probably benign Het
Kpna2 T A 11: 106,991,201 E266D probably benign Het
Lars T C 18: 42,214,827 E977G probably benign Het
Lrrn4 T C 2: 132,879,472 T142A probably benign Het
Myo19 T C 11: 84,909,546 L919P probably damaging Het
Nhlrc1 A T 13: 47,014,131 F217I probably damaging Het
Olfr1495 T C 19: 13,768,537 F65S probably damaging Het
Plch1 T C 3: 63,731,649 I468V probably damaging Het
Rergl T A 6: 139,493,498 probably null Het
Sctr A G 1: 120,044,769 probably benign Het
Sdhb T C 4: 140,972,967 V126A probably benign Het
Smad3 C T 9: 63,655,586 R214Q probably damaging Het
Tdrd9 T C 12: 112,046,989 M1219T possibly damaging Het
Tmem167b A T 3: 108,558,906 N75K possibly damaging Het
Vmn2r83 T C 10: 79,479,012 S365P probably benign Het
Vps16 T C 2: 130,438,394 F153L probably damaging Het
Other mutations in Col9a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Col9a3 APN 2 180616434 missense probably damaging 0.96
IGL01727:Col9a3 APN 2 180616565 critical splice donor site probably null
IGL02558:Col9a3 APN 2 180606806 critical splice acceptor site probably null
IGL03112:Col9a3 APN 2 180607642 missense possibly damaging 0.60
IGL02796:Col9a3 UTSW 2 180614162 missense probably damaging 1.00
R0022:Col9a3 UTSW 2 180619756 missense probably damaging 1.00
R0022:Col9a3 UTSW 2 180619756 missense probably damaging 1.00
R0046:Col9a3 UTSW 2 180609487 missense possibly damaging 0.47
R0046:Col9a3 UTSW 2 180609487 missense possibly damaging 0.47
R0477:Col9a3 UTSW 2 180609470 splice site probably benign
R0890:Col9a3 UTSW 2 180610063 missense probably benign 0.23
R1934:Col9a3 UTSW 2 180607134 missense probably damaging 0.98
R4355:Col9a3 UTSW 2 180606478 missense probably benign 0.00
R4571:Col9a3 UTSW 2 180616366 splice site probably benign
R4688:Col9a3 UTSW 2 180607631 missense probably damaging 0.99
R4731:Col9a3 UTSW 2 180610681 missense probably damaging 0.99
R4742:Col9a3 UTSW 2 180603387 missense unknown
R4847:Col9a3 UTSW 2 180615525 missense probably damaging 1.00
R4985:Col9a3 UTSW 2 180603400 missense unknown
R5488:Col9a3 UTSW 2 180616525 missense probably damaging 1.00
R5489:Col9a3 UTSW 2 180616525 missense probably damaging 1.00
R5573:Col9a3 UTSW 2 180619732 missense probably benign 0.17
R5575:Col9a3 UTSW 2 180598846 intron probably benign
R6820:Col9a3 UTSW 2 180607134 missense probably damaging 0.98
R7114:Col9a3 UTSW 2 180603797 missense unknown
R7710:Col9a3 UTSW 2 180609365 missense probably damaging 0.98
R8177:Col9a3 UTSW 2 180607657 missense probably damaging 0.97
R8342:Col9a3 UTSW 2 180603390 missense unknown
R8472:Col9a3 UTSW 2 180605264 missense probably damaging 1.00
R8783:Col9a3 UTSW 2 180614177 missense probably damaging 0.98
Posted On2013-12-03