Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02330:Cilp'

288649

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 #

IGL02330

Quality Score

Status

Chromosome

Chromosomal Location

65172462-65187887 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 65181804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048762] [ENSMUST00000141382]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048762

SMART Domains

Protein: ENSMUSP00000036631
Gene: ENSMUSG00000042254

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,325,398 (GRCm39)	I352K	probably benign	Het
Atp8a1	T	C	5: 67,970,520 (GRCm39)	N73S	probably damaging	Het
Csf2rb2	C	T	15: 78,169,328 (GRCm39)	G500D	possibly damaging	Het
Cyp4a14	A	C	4: 115,352,224 (GRCm39)		probably benign	Het
Dagla	T	G	19: 10,225,386 (GRCm39)	D926A	probably damaging	Het
Ddr2	T	A	1: 169,816,093 (GRCm39)	Y538F	probably damaging	Het
Eng	T	A	2: 32,559,581 (GRCm39)		probably null	Het
Fbxo24	G	T	5: 137,619,579 (GRCm39)	L99M	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Foxp1	T	C	6: 98,922,373 (GRCm39)	N453D	probably damaging	Het
Fut8	A	G	12: 77,497,017 (GRCm39)	D409G	probably damaging	Het
Hmces	A	G	6: 87,891,517 (GRCm39)	H8R	probably damaging	Het
Ing3	T	C	6: 21,952,120 (GRCm39)	C44R	probably benign	Het
Itga1	T	A	13: 115,148,740 (GRCm39)	I294F	probably damaging	Het
Mov10l1	T	A	15: 88,910,693 (GRCm39)	S976T	probably damaging	Het
Myo15a	A	G	11: 60,367,987 (GRCm39)	Y249C	possibly damaging	Het
Nop56	T	C	2: 130,118,686 (GRCm39)	S273P	probably damaging	Het
Or10a48	A	T	7: 108,425,206 (GRCm39)		probably benign	Het
Or1j21	C	T	2: 36,683,907 (GRCm39)	H220Y	probably benign	Het
Otog	C	T	7: 45,937,493 (GRCm39)	S1734F	possibly damaging	Het
Phc3	T	G	3: 30,990,530 (GRCm39)	E562D	probably damaging	Het
Ralb	A	T	1: 119,399,450 (GRCm39)	C203S	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Sf3b4	A	T	3: 96,080,376 (GRCm39)	T42S	possibly damaging	Het
Sgsm2	T	C	11: 74,749,493 (GRCm39)	T584A	probably benign	Het
Slco5a1	T	C	1: 13,009,284 (GRCm39)	K397R	probably damaging	Het
Trim30c	A	G	7: 104,032,165 (GRCm39)	Y299H	possibly damaging	Het
Trip6	T	C	5: 137,311,620 (GRCm39)	D119G	probably benign	Het
Uap1	A	T	1: 169,977,896 (GRCm39)	I385N	possibly damaging	Het
Vmn1r123	T	A	7: 20,896,969 (GRCm39)	I287N	probably damaging	Het
Vwce	T	C	19: 10,624,165 (GRCm39)	L352P	possibly damaging	Het
Xrn1	T	A	9: 95,855,401 (GRCm39)	Y260*	probably null	Het
Zfp738	T	C	13: 67,819,550 (GRCm39)	Y147C	probably damaging	Het

Other mutations in Cilp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Cilp	APN	9	65,186,265 (GRCm39)	missense	possibly damaging	0.80
IGL01340:Cilp	APN	9	65,183,256 (GRCm39)	missense	probably damaging	0.99
IGL02729:Cilp	APN	9	65,185,372 (GRCm39)	missense	possibly damaging	0.63
IGL02833:Cilp	APN	9	65,185,206 (GRCm39)	missense	probably benign
IGL02961:Cilp	APN	9	65,185,891 (GRCm39)	missense	possibly damaging	0.88
IGL03137:Cilp	APN	9	65,185,450 (GRCm39)	missense	probably benign
IGL03211:Cilp	APN	9	65,187,457 (GRCm39)	missense	probably benign
IGL03301:Cilp	APN	9	65,187,499 (GRCm39)	missense	probably benign	0.01
IGL03341:Cilp	APN	9	65,185,284 (GRCm39)	missense	probably benign	0.07
ANU05:Cilp	UTSW	9	65,186,265 (GRCm39)	missense	possibly damaging	0.80
IGL02984:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL02988:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL02991:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL03014:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL03050:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL03054:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL03055:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL03097:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL03098:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL03134:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL03138:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
IGL03147:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
R0096:Cilp	UTSW	9	65,180,952 (GRCm39)	missense	possibly damaging	0.57
R0219:Cilp	UTSW	9	65,176,872 (GRCm39)	missense	possibly damaging	0.64
R0347:Cilp	UTSW	9	65,187,435 (GRCm39)	missense	probably benign
R0699:Cilp	UTSW	9	65,177,608 (GRCm39)	missense	probably damaging	1.00
R1148:Cilp	UTSW	9	65,187,598 (GRCm39)	missense	possibly damaging	0.96
R1148:Cilp	UTSW	9	65,187,598 (GRCm39)	missense	possibly damaging	0.96
R1155:Cilp	UTSW	9	65,176,869 (GRCm39)	missense	probably benign	0.01
R1544:Cilp	UTSW	9	65,183,127 (GRCm39)	missense	probably benign	0.03
R1584:Cilp	UTSW	9	65,186,997 (GRCm39)	missense	probably damaging	1.00
R1586:Cilp	UTSW	9	65,186,997 (GRCm39)	missense	probably damaging	1.00
R2055:Cilp	UTSW	9	65,186,997 (GRCm39)	missense	probably damaging	1.00
R2069:Cilp	UTSW	9	65,185,372 (GRCm39)	missense	possibly damaging	0.63
R2070:Cilp	UTSW	9	65,186,377 (GRCm39)	missense	probably damaging	1.00
R2414:Cilp	UTSW	9	65,181,927 (GRCm39)	splice site	probably benign
R4284:Cilp	UTSW	9	65,185,560 (GRCm39)	missense	probably damaging	1.00
R4630:Cilp	UTSW	9	65,187,162 (GRCm39)	missense	probably benign	0.17
R4632:Cilp	UTSW	9	65,187,162 (GRCm39)	missense	probably benign	0.17
R4870:Cilp	UTSW	9	65,186,980 (GRCm39)	missense	probably damaging	1.00
R4908:Cilp	UTSW	9	65,185,302 (GRCm39)	missense	probably benign	0.17
R5568:Cilp	UTSW	9	65,187,515 (GRCm39)	missense	probably benign	0.04
R5621:Cilp	UTSW	9	65,186,073 (GRCm39)	missense	possibly damaging	0.71
R5889:Cilp	UTSW	9	65,187,625 (GRCm39)	missense	possibly damaging	0.93
R6645:Cilp	UTSW	9	65,186,587 (GRCm39)	missense	possibly damaging	0.66
R6878:Cilp	UTSW	9	65,187,129 (GRCm39)	missense	probably damaging	1.00
R6982:Cilp	UTSW	9	65,187,087 (GRCm39)	missense	probably damaging	1.00
R7330:Cilp	UTSW	9	65,187,527 (GRCm39)	missense	probably benign
R7967:Cilp	UTSW	9	65,185,494 (GRCm39)	missense	possibly damaging	0.80
R8305:Cilp	UTSW	9	65,186,286 (GRCm39)	missense	probably damaging	0.98
R8306:Cilp	UTSW	9	65,186,286 (GRCm39)	missense	probably damaging	0.98
R8307:Cilp	UTSW	9	65,186,286 (GRCm39)	missense	probably damaging	0.98
R8308:Cilp	UTSW	9	65,186,286 (GRCm39)	missense	probably damaging	0.98
R8386:Cilp	UTSW	9	65,186,286 (GRCm39)	missense	probably damaging	0.98
R8407:Cilp	UTSW	9	65,181,898 (GRCm39)	missense	probably damaging	1.00
R8542:Cilp	UTSW	9	65,185,405 (GRCm39)	missense	probably damaging	1.00
R8794:Cilp	UTSW	9	65,186,535 (GRCm39)	missense	probably benign	0.26
R8951:Cilp	UTSW	9	65,180,220 (GRCm39)	missense	probably benign	0.01
R9060:Cilp	UTSW	9	65,186,302 (GRCm39)	missense	probably benign	0.01
R9257:Cilp	UTSW	9	65,174,451 (GRCm39)	missense	possibly damaging	0.72
R9265:Cilp	UTSW	9	65,187,333 (GRCm39)	missense	probably benign
R9358:Cilp	UTSW	9	65,183,269 (GRCm39)	missense	probably benign
R9401:Cilp	UTSW	9	65,185,381 (GRCm39)	missense	probably damaging	0.98
X0024:Cilp	UTSW	9	65,186,925 (GRCm39)	missense	probably damaging	1.00
X0025:Cilp	UTSW	9	65,186,980 (GRCm39)	missense	probably damaging	1.00
Z1088:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
Z1176:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null
Z1177:Cilp	UTSW	9	65,187,412 (GRCm39)	frame shift	probably null

Posted On

2015-04-16