Incidental Mutation 'IGL01294:Evc2'
| ID |
73036 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Evc2
|
| Ensembl Gene |
ENSMUSG00000050248 |
| Gene Name |
EvC ciliary complex subunit 2 |
| Synonyms |
Ellis van Creveld syndrome 2, Lbn, limbin |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01294
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
37495843-37582399 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 37504854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056365]
|
| AlphaFold |
Q8K1G2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056365
|
| SMART Domains |
Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
Pfam:EVC2_like
|
147 |
570 |
2.1e-191 |
PFAM |
|
low complexity region
|
576 |
600 |
N/A |
INTRINSIC |
|
coiled coil region
|
617 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
914 |
N/A |
INTRINSIC |
|
coiled coil region
|
922 |
956 |
N/A |
INTRINSIC |
|
low complexity region
|
1057 |
1071 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101258
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
T |
7: 127,836,291 (GRCm39) |
S101T |
probably benign |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Arglu1 |
G |
T |
8: 8,733,739 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
T |
G |
9: 107,391,280 (GRCm39) |
Y436D |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cpne8 |
G |
A |
15: 90,385,648 (GRCm39) |
S460L |
probably damaging |
Het |
| Crat |
G |
A |
2: 30,295,199 (GRCm39) |
A436V |
probably damaging |
Het |
| Dmd |
T |
C |
X: 83,475,604 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
G |
T |
17: 71,581,589 (GRCm39) |
A379E |
probably benign |
Het |
| Ercc2 |
A |
G |
7: 19,124,342 (GRCm39) |
I445V |
probably benign |
Het |
| Filip1l |
A |
T |
16: 57,392,711 (GRCm39) |
K1100* |
probably null |
Het |
| Gm4353 |
T |
A |
7: 115,683,077 (GRCm39) |
D168V |
possibly damaging |
Het |
| Hsf4 |
G |
T |
8: 106,002,289 (GRCm39) |
*417L |
probably null |
Het |
| Kmt2a |
A |
G |
9: 44,731,594 (GRCm39) |
|
probably benign |
Het |
| Macroh2a1 |
A |
T |
13: 56,222,113 (GRCm39) |
V346E |
probably damaging |
Het |
| Mpzl1 |
A |
G |
1: 165,421,177 (GRCm39) |
S261P |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,742,211 (GRCm39) |
S621P |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,232,926 (GRCm39) |
Y934C |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,353,588 (GRCm39) |
S1224P |
probably damaging |
Het |
| Nwd1 |
A |
T |
8: 73,438,373 (GRCm39) |
N1474Y |
probably damaging |
Het |
| Or2ag20 |
T |
C |
7: 106,464,970 (GRCm39) |
L261S |
probably damaging |
Het |
| Ptbp2 |
A |
G |
3: 119,541,461 (GRCm39) |
V192A |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,090,657 (GRCm39) |
Y421C |
probably damaging |
Het |
| Sfmbt2 |
T |
A |
2: 10,595,232 (GRCm39) |
|
probably benign |
Het |
| Slc4a10 |
A |
C |
2: 62,083,653 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
T |
C |
14: 110,987,506 (GRCm39) |
M734V |
probably benign |
Het |
| Tap1 |
T |
C |
17: 34,413,019 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
G |
14: 51,067,114 (GRCm39) |
|
probably benign |
Het |
| Uba6 |
T |
A |
5: 86,297,907 (GRCm39) |
I256L |
possibly damaging |
Het |
| Wnt3 |
A |
T |
11: 103,699,140 (GRCm39) |
H82L |
possibly damaging |
Het |
|
| Other mutations in Evc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Evc2
|
APN |
5 |
37,579,235 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01547:Evc2
|
APN |
5 |
37,550,431 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02233:Evc2
|
APN |
5 |
37,535,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02253:Evc2
|
APN |
5 |
37,535,771 (GRCm39) |
splice site |
probably benign |
|
|
IGL02993:Evc2
|
APN |
5 |
37,576,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0010:Evc2
|
UTSW |
5 |
37,574,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Evc2
|
UTSW |
5 |
37,574,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Evc2
|
UTSW |
5 |
37,550,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:Evc2
|
UTSW |
5 |
37,574,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Evc2
|
UTSW |
5 |
37,574,828 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1291:Evc2
|
UTSW |
5 |
37,544,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Evc2
|
UTSW |
5 |
37,550,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Evc2
|
UTSW |
5 |
37,527,900 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1491:Evc2
|
UTSW |
5 |
37,550,541 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1502:Evc2
|
UTSW |
5 |
37,550,440 (GRCm39) |
missense |
probably benign |
|
|
R1662:Evc2
|
UTSW |
5 |
37,506,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1891:Evc2
|
UTSW |
5 |
37,549,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Evc2
|
UTSW |
5 |
37,520,876 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1983:Evc2
|
UTSW |
5 |
37,573,275 (GRCm39) |
nonsense |
probably null |
|
|
R2160:Evc2
|
UTSW |
5 |
37,537,862 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2237:Evc2
|
UTSW |
5 |
37,535,527 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3926:Evc2
|
UTSW |
5 |
37,540,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3953:Evc2
|
UTSW |
5 |
37,537,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3959:Evc2
|
UTSW |
5 |
37,573,120 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4281:Evc2
|
UTSW |
5 |
37,495,938 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4366:Evc2
|
UTSW |
5 |
37,496,013 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4707:Evc2
|
UTSW |
5 |
37,579,204 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4754:Evc2
|
UTSW |
5 |
37,544,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5373:Evc2
|
UTSW |
5 |
37,535,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5593:Evc2
|
UTSW |
5 |
37,544,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5697:Evc2
|
UTSW |
5 |
37,527,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5847:Evc2
|
UTSW |
5 |
37,562,068 (GRCm39) |
intron |
probably benign |
|
|
R5874:Evc2
|
UTSW |
5 |
37,574,883 (GRCm39) |
intron |
probably benign |
|
|
R6023:Evc2
|
UTSW |
5 |
37,505,960 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6285:Evc2
|
UTSW |
5 |
37,581,923 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6394:Evc2
|
UTSW |
5 |
37,535,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6567:Evc2
|
UTSW |
5 |
37,576,508 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6669:Evc2
|
UTSW |
5 |
37,535,722 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7039:Evc2
|
UTSW |
5 |
37,579,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Evc2
|
UTSW |
5 |
37,567,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Evc2
|
UTSW |
5 |
37,544,183 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7372:Evc2
|
UTSW |
5 |
37,544,477 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7376:Evc2
|
UTSW |
5 |
37,527,983 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7607:Evc2
|
UTSW |
5 |
37,544,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7915:Evc2
|
UTSW |
5 |
37,544,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8144:Evc2
|
UTSW |
5 |
37,537,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Evc2
|
UTSW |
5 |
37,540,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Evc2
|
UTSW |
5 |
37,550,505 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9151:Evc2
|
UTSW |
5 |
37,504,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9261:Evc2
|
UTSW |
5 |
37,537,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9612:Evc2
|
UTSW |
5 |
37,544,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation