Mutagenetix > Incidental Mutation

Incidental Mutation 'R4284:Cilp'

322002

Institutional Source

Beutler Lab

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 #

R4284 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65172462-65187887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65185560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 552 (T552S)

Ref Sequence

ENSEMBL: ENSMUSP00000036631 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048762
AA Change: T552S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036631
Gene: ENSMUSG00000042254
AA Change: T552S

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

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	G	A	3: 116,545,827 (GRCm39)	S1323L	possibly damaging	Het
Capg	T	C	6: 72,538,082 (GRCm39)	Y323H	probably damaging	Het
Cdh23	T	C	10: 60,139,272 (GRCm39)	T3314A	possibly damaging	Het
Cox16	T	C	12: 81,521,293 (GRCm39)		probably null	Het
Ctu2	G	A	8: 123,204,978 (GRCm39)	V88I	probably benign	Het
Elfn1	A	T	5: 139,958,069 (GRCm39)	K358*	probably null	Het
Enpp6	T	C	8: 47,522,050 (GRCm39)	F328S	probably damaging	Het
Galnt12	T	C	4: 47,104,231 (GRCm39)	L163P	probably damaging	Het
Gcfc2	G	A	6: 81,918,372 (GRCm39)	R354H	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Ikbke	C	T	1: 131,203,515 (GRCm39)		probably null	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Jmjd6	T	C	11: 116,733,534 (GRCm39)	R48G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lilra6	T	C	7: 3,911,803 (GRCm39)	H285R	possibly damaging	Het
Lrp2	G	A	2: 69,310,438 (GRCm39)	R2712C	possibly damaging	Het
Magi3	C	A	3: 103,923,184 (GRCm39)	G1178*	probably null	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mug2	T	A	6: 122,040,632 (GRCm39)	D727E	probably benign	Het
Relch	A	G	1: 105,649,012 (GRCm39)	D717G	probably damaging	Het
Sema3c	A	G	5: 17,883,345 (GRCm39)	T318A	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc20a2	G	A	8: 23,051,365 (GRCm39)	R466Q	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Sox5	T	C	6: 143,781,055 (GRCm39)	K570E	probably damaging	Het
Ssbp1	T	G	6: 40,454,851 (GRCm39)		probably null	Het
Sult5a1	A	G	8: 123,875,969 (GRCm39)	S116P	probably damaging	Het
Tktl2	T	A	8: 66,965,808 (GRCm39)	D455E	probably damaging	Het
Tm9sf1	T	C	14: 55,878,780 (GRCm39)	Y204C	probably damaging	Het
Tmem161a	A	G	8: 70,630,076 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,623,211 (GRCm39)	K13663*	probably null	Het
Unc5c	T	C	3: 141,420,435 (GRCm39)	I52T	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
IGL02330:Cilp	APN	9	65,181,804 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCACTGCTGCTGACAAC -3'
(R):5'- ATGTTCCGAGGATCCAGGAAG -3'

Sequencing Primer
(F):5'- TGACAACGGGGAGCCCATG -3'
(R):5'- ATCCAGGAAGGTCACGCTG -3'

Posted On

2015-06-20