Incidental Mutation 'R1148:Cilp'
| ID |
165208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cilp
|
| Ensembl Gene |
ENSMUSG00000042254 |
| Gene Name |
cartilage intermediate layer protein, nucleotide pyrophosphohydrolase |
| Synonyms |
C130036G17Rik |
| MMRRC Submission |
039221-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1148 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65172462-65187887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65187598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1231
(L1231Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048762]
[ENSMUST00000141382]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048762
AA Change: L1231Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036631
Gene: ENSMUSG00000042254
AA Change: L1231Q
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (42/42) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
| AC149051.1 |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
| Alg10b |
T |
C |
15: 90,112,068 (GRCm39) |
F304S |
possibly damaging |
Het |
| Ank3 |
C |
T |
10: 69,718,369 (GRCm39) |
S540F |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,365,346 (GRCm39) |
N590D |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,486,396 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
| Coq8a |
G |
A |
1: 179,996,968 (GRCm39) |
|
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 114,983,752 (GRCm39) |
|
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,294,646 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
G |
A |
2: 118,636,899 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,421,836 (GRCm39) |
L3896P |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,961,114 (GRCm39) |
|
probably null |
Het |
| Esp4 |
A |
C |
17: 40,913,262 (GRCm39) |
N43T |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,908,070 (GRCm39) |
D2644G |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Homo |
| Hexd |
A |
G |
11: 121,112,093 (GRCm39) |
I438V |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,363,168 (GRCm39) |
E262G |
probably benign |
Het |
| Ly6h |
G |
T |
15: 75,437,021 (GRCm39) |
S118R |
unknown |
Het |
| Mapk12 |
T |
C |
15: 89,018,826 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mapk15 |
A |
G |
15: 75,870,004 (GRCm39) |
T375A |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 26,203,407 (GRCm39) |
D1307G |
probably benign |
Het |
| Or5g9 |
C |
A |
2: 85,552,620 (GRCm39) |
Y290* |
probably null |
Het |
| Osbpl11 |
T |
C |
16: 33,047,582 (GRCm39) |
F515S |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,006,392 (GRCm39) |
V90A |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,603,439 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,612,270 (GRCm39) |
D41G |
probably damaging |
Het |
| Rbm4b |
A |
G |
19: 4,807,527 (GRCm39) |
H81R |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
| Sez6l2 |
C |
A |
7: 126,560,984 (GRCm39) |
P483Q |
probably damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,014,634 (GRCm39) |
D475G |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,089,226 (GRCm39) |
S1655P |
possibly damaging |
Het |
| Slc25a12 |
G |
A |
2: 71,142,912 (GRCm39) |
|
probably benign |
Het |
| Strc |
A |
G |
2: 121,202,558 (GRCm39) |
|
probably benign |
Het |
| Trp53rka |
C |
A |
2: 165,334,961 (GRCm39) |
|
probably benign |
Het |
| Ttc22 |
G |
A |
4: 106,480,228 (GRCm39) |
V161M |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,078,926 (GRCm39) |
L1504P |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,928,967 (GRCm39) |
|
probably benign |
Het |
| Wsb2 |
T |
C |
5: 117,508,742 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGATGGCACTTCCGATGGCTCC -3'
(R):5'- TGGACACCAGAGTTCCAAATTCCCC -3'
Sequencing Primer
(F):5'- TGGCTCCTCCAGAATCATGAAG -3'
(R):5'- GACTGTGACAGAGACTTTGCTTAC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation