Incidental Mutation 'R4640:Cnmd'
| ID |
351622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnmd
|
| Ensembl Gene |
ENSMUSG00000022025 |
| Gene Name |
chondromodulin |
| Synonyms |
Bricd3, Chondromodulin 1, Chmd, ChM-I, Lect1 |
| MMRRC Submission |
041902-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4640 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
79875130-79899610 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79894093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 98
(N98S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022603]
[ENSMUST00000165835]
|
| AlphaFold |
Q9Z1F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022603
AA Change: N98S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022603
Gene: ENSMUSG00000022025
AA Change: N98S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
BRICHOS
|
105 |
201 |
1.24e-33 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165835
AA Change: N98S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126958
Gene: ENSMUSG00000022025
AA Change: N98S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
BRICHOS
|
105 |
201 |
1.24e-33 |
SMART |
|
| Meta Mutation Damage Score |
0.1643 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
93% (39/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and show no gross morphologic defects. While cartilage development and embryonic endochondral bone formation were found to be normal in mutant mice, one line of targeted mutants showed increased bone density and impairedbone resorption. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,205,947 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,878,434 (GRCm39) |
|
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,952,297 (GRCm39) |
S463T |
probably benign |
Het |
| Cfap251 |
G |
T |
5: 123,440,495 (GRCm39) |
V1094L |
probably benign |
Het |
| Copz2 |
A |
T |
11: 96,747,533 (GRCm39) |
Q172L |
possibly damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,494,369 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
C |
T |
7: 55,563,199 (GRCm39) |
T865I |
possibly damaging |
Het |
| Cyp2c37 |
A |
T |
19: 40,000,276 (GRCm39) |
D466V |
possibly damaging |
Het |
| Dytn |
A |
G |
1: 63,682,507 (GRCm39) |
L380P |
possibly damaging |
Het |
| Fam124b |
G |
A |
1: 80,191,243 (GRCm39) |
R47C |
probably damaging |
Het |
| Foxe3 |
G |
A |
4: 114,782,972 (GRCm39) |
A80V |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,734 (GRCm39) |
|
noncoding transcript |
Het |
| Kera |
A |
T |
10: 97,448,749 (GRCm39) |
Y323F |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,946,197 (GRCm39) |
Y205F |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,698,237 (GRCm39) |
E380G |
probably benign |
Het |
| Mcm2 |
A |
T |
6: 88,864,786 (GRCm39) |
H563Q |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,352,974 (GRCm39) |
E409G |
probably benign |
Het |
| Mns1 |
A |
G |
9: 72,346,564 (GRCm39) |
K16E |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,349,153 (GRCm38) |
|
noncoding transcript |
Het |
| Nrxn1 |
A |
G |
17: 90,868,196 (GRCm39) |
S1105P |
probably damaging |
Het |
| Odf2l |
G |
A |
3: 144,834,706 (GRCm39) |
R186H |
probably damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,274 (GRCm39) |
T16S |
probably benign |
Het |
| Or2d3c |
T |
C |
7: 106,525,800 (GRCm39) |
I289V |
possibly damaging |
Het |
| Phxr2 |
T |
C |
10: 98,961,931 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,725 (GRCm39) |
F243S |
probably damaging |
Het |
| Ppp1r27 |
T |
C |
11: 120,441,553 (GRCm39) |
N76D |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 22,972,797 (GRCm39) |
T236A |
probably damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,102,975 (GRCm39) |
|
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,552,616 (GRCm39) |
Q193L |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,827,698 (GRCm39) |
S39G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,564,513 (GRCm39) |
V883A |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,134,550 (GRCm39) |
V362E |
probably damaging |
Het |
|
| Other mutations in Cnmd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01995:Cnmd
|
APN |
14 |
79,879,508 (GRCm39) |
splice site |
probably benign |
|
|
IGL02556:Cnmd
|
APN |
14 |
79,899,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03034:Cnmd
|
APN |
14 |
79,879,368 (GRCm39) |
missense |
probably benign |
|
|
R0529:Cnmd
|
UTSW |
14 |
79,879,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0811:Cnmd
|
UTSW |
14 |
79,898,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Cnmd
|
UTSW |
14 |
79,898,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0844:Cnmd
|
UTSW |
14 |
79,879,391 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2401:Cnmd
|
UTSW |
14 |
79,894,045 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2419:Cnmd
|
UTSW |
14 |
79,875,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3697:Cnmd
|
UTSW |
14 |
79,875,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Cnmd
|
UTSW |
14 |
79,887,762 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4845:Cnmd
|
UTSW |
14 |
79,899,448 (GRCm39) |
missense |
probably benign |
|
|
R5157:Cnmd
|
UTSW |
14 |
79,894,126 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5959:Cnmd
|
UTSW |
14 |
79,894,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Cnmd
|
UTSW |
14 |
79,898,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6033:Cnmd
|
UTSW |
14 |
79,898,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7421:Cnmd
|
UTSW |
14 |
79,882,947 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7640:Cnmd
|
UTSW |
14 |
79,898,974 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8007:Cnmd
|
UTSW |
14 |
79,875,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Cnmd
|
UTSW |
14 |
79,882,821 (GRCm39) |
nonsense |
probably null |
|
|
R8450:Cnmd
|
UTSW |
14 |
79,882,821 (GRCm39) |
nonsense |
probably null |
|
|
R9009:Cnmd
|
UTSW |
14 |
79,894,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Cnmd
|
UTSW |
14 |
79,887,850 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGAGAAGCTGCTGTTGAGAAC -3'
(R):5'- AGCTGACTGGTATATGGATAGATTCC -3'
Sequencing Primer
(F):5'- AGTAACCACTGCGTGCGTG -3'
(R):5'- CCAAAGACTCTTGTTCTCC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation