Incidental Mutation 'IGL02833:Cilp'
ID 361521
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cilp
Ensembl Gene ENSMUSG00000042254
Gene Name cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
Synonyms C130036G17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02833
Quality Score
Status
Chromosome 9
Chromosomal Location 65265180-65280605 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65277924 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 434 (I434V)
Ref Sequence ENSEMBL: ENSMUSP00000036631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048762] [ENSMUST00000141382]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048762
AA Change: I434V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036631
Gene: ENSMUSG00000042254
AA Change: I434V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Mucin2_WxxW 55 139 1.9e-24 PFAM
TSP1 152 201 3.09e-10 SMART
low complexity region 233 242 N/A INTRINSIC
IGc2 321 383 4.45e-10 SMART
low complexity region 1154 1170 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141382
SMART Domains Protein: ENSMUSP00000121326
Gene: ENSMUSG00000042254

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik G T 2: 85,502,207 R158S possibly damaging Het
Ache A G 5: 137,291,109 probably benign Het
Atr A T 9: 95,862,852 H74L probably damaging Het
Brca2 A T 5: 150,541,790 H1673L possibly damaging Het
Brwd1 A T 16: 96,052,571 I495K probably damaging Het
Cacna1s A T 1: 136,071,005 I213F probably benign Het
Cds1 T C 5: 101,814,466 S316P possibly damaging Het
Ces1b G A 8: 93,079,410 P68S probably damaging Het
Csgalnact2 A G 6: 118,129,268 Y30H probably damaging Het
D430042O09Rik A T 7: 125,850,412 R883* probably null Het
Defb7 T C 8: 19,495,124 V6A probably benign Het
Dlg2 A T 7: 92,431,127 L841F probably damaging Het
Dnajc14 A G 10: 128,806,599 N130S possibly damaging Het
Dock7 T A 4: 98,945,495 D1863V probably damaging Het
Dsp A G 13: 38,192,921 R1561G possibly damaging Het
Gstt4 G T 10: 75,822,340 F28L probably damaging Het
Hectd1 G T 12: 51,764,081 D1690E probably damaging Het
Hspb11 T C 4: 107,275,295 probably benign Het
Hspg2 T C 4: 137,555,130 S3394P probably benign Het
Igf2r A T 17: 12,692,723 C1910S probably damaging Het
Jakmip2 T C 18: 43,575,451 probably benign Het
Kif1b C T 4: 149,246,364 V612M probably damaging Het
Lrrd1 A G 5: 3,850,709 E338G probably damaging Het
Mmp9 C A 2: 164,949,803 D205E probably damaging Het
Mylk A T 16: 34,914,900 H750L probably benign Het
Naip6 A G 13: 100,299,613 S801P probably damaging Het
Nlrp1b A T 11: 71,161,172 M980K probably benign Het
Olfr1173 C A 2: 88,274,432 V206F probably benign Het
Olfr125 G A 17: 37,835,940 V314I probably benign Het
Olfr131 T C 17: 38,082,352 K209E possibly damaging Het
Olfr794 A G 10: 129,570,750 T32A probably benign Het
Pdk1 A G 2: 71,897,645 probably null Het
Pex7 A G 10: 19,894,754 S125P probably damaging Het
Pigu T C 2: 155,345,645 probably benign Het
Prr16 T A 18: 51,303,092 H214Q probably damaging Het
Psme4 C T 11: 30,850,715 probably benign Het
Sf3b3 A G 8: 110,811,977 probably null Het
Sp4 T C 12: 118,261,881 I583V probably benign Het
Spata22 A G 11: 73,343,743 T224A probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tmem119 T A 5: 113,795,371 Y123F probably damaging Het
Umps A T 16: 33,962,153 L133* probably null Het
Usp46 T A 5: 74,016,682 T179S probably benign Het
Vtcn1 T A 3: 100,888,385 Y223N probably damaging Het
Wiz A G 17: 32,357,879 M567T probably damaging Het
Other mutations in Cilp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Cilp APN 9 65278983 missense possibly damaging 0.80
IGL01340:Cilp APN 9 65275974 missense probably damaging 0.99
IGL02330:Cilp APN 9 65274522 splice site probably benign
IGL02729:Cilp APN 9 65278090 missense possibly damaging 0.63
IGL02961:Cilp APN 9 65278609 missense possibly damaging 0.88
IGL03137:Cilp APN 9 65278168 missense probably benign
IGL03211:Cilp APN 9 65280175 missense probably benign
IGL03301:Cilp APN 9 65280217 missense probably benign 0.01
IGL03341:Cilp APN 9 65278002 missense probably benign 0.07
ANU05:Cilp UTSW 9 65278983 missense possibly damaging 0.80
IGL02984:Cilp UTSW 9 65280130 frame shift probably null
IGL02988:Cilp UTSW 9 65280130 frame shift probably null
IGL02991:Cilp UTSW 9 65280130 frame shift probably null
IGL03014:Cilp UTSW 9 65280130 frame shift probably null
IGL03050:Cilp UTSW 9 65280130 frame shift probably null
IGL03054:Cilp UTSW 9 65280130 frame shift probably null
IGL03055:Cilp UTSW 9 65280130 frame shift probably null
IGL03097:Cilp UTSW 9 65280130 frame shift probably null
IGL03098:Cilp UTSW 9 65280130 frame shift probably null
IGL03134:Cilp UTSW 9 65280130 frame shift probably null
IGL03138:Cilp UTSW 9 65280130 frame shift probably null
IGL03147:Cilp UTSW 9 65280130 frame shift probably null
R0096:Cilp UTSW 9 65273670 missense possibly damaging 0.57
R0219:Cilp UTSW 9 65269590 missense possibly damaging 0.64
R0347:Cilp UTSW 9 65280153 missense probably benign
R0699:Cilp UTSW 9 65270326 missense probably damaging 1.00
R1148:Cilp UTSW 9 65280316 missense possibly damaging 0.96
R1148:Cilp UTSW 9 65280316 missense possibly damaging 0.96
R1155:Cilp UTSW 9 65269587 missense probably benign 0.01
R1544:Cilp UTSW 9 65275845 missense probably benign 0.03
R1584:Cilp UTSW 9 65279715 missense probably damaging 1.00
R1586:Cilp UTSW 9 65279715 missense probably damaging 1.00
R2055:Cilp UTSW 9 65279715 missense probably damaging 1.00
R2069:Cilp UTSW 9 65278090 missense possibly damaging 0.63
R2070:Cilp UTSW 9 65279095 missense probably damaging 1.00
R2414:Cilp UTSW 9 65274645 splice site probably benign
R4284:Cilp UTSW 9 65278278 missense probably damaging 1.00
R4630:Cilp UTSW 9 65279880 missense probably benign 0.17
R4632:Cilp UTSW 9 65279880 missense probably benign 0.17
R4870:Cilp UTSW 9 65279698 missense probably damaging 1.00
R4908:Cilp UTSW 9 65278020 missense probably benign 0.17
R5568:Cilp UTSW 9 65280233 missense probably benign 0.04
R5621:Cilp UTSW 9 65278791 missense possibly damaging 0.71
R5889:Cilp UTSW 9 65280343 missense possibly damaging 0.93
R6645:Cilp UTSW 9 65279305 missense possibly damaging 0.66
R6878:Cilp UTSW 9 65279847 missense probably damaging 1.00
R6982:Cilp UTSW 9 65279805 missense probably damaging 1.00
R7330:Cilp UTSW 9 65280245 missense probably benign
R7967:Cilp UTSW 9 65278212 missense possibly damaging 0.80
R8305:Cilp UTSW 9 65279004 missense probably damaging 0.98
R8306:Cilp UTSW 9 65279004 missense probably damaging 0.98
R8307:Cilp UTSW 9 65279004 missense probably damaging 0.98
R8308:Cilp UTSW 9 65279004 missense probably damaging 0.98
R8386:Cilp UTSW 9 65279004 missense probably damaging 0.98
R8407:Cilp UTSW 9 65274616 missense probably damaging 1.00
R8542:Cilp UTSW 9 65278123 missense probably damaging 1.00
R8794:Cilp UTSW 9 65279253 missense probably benign 0.26
R8951:Cilp UTSW 9 65272938 missense probably benign 0.01
R9060:Cilp UTSW 9 65279020 missense probably benign 0.01
R9257:Cilp UTSW 9 65267169 missense possibly damaging 0.72
R9265:Cilp UTSW 9 65280051 missense probably benign
R9358:Cilp UTSW 9 65275987 missense probably benign
R9401:Cilp UTSW 9 65278099 missense probably damaging 0.98
X0024:Cilp UTSW 9 65279643 missense probably damaging 1.00
X0025:Cilp UTSW 9 65279698 missense probably damaging 1.00
Z1088:Cilp UTSW 9 65280130 frame shift probably null
Z1176:Cilp UTSW 9 65280130 frame shift probably null
Z1177:Cilp UTSW 9 65280130 frame shift probably null
Posted On 2015-12-18