Incidental Mutation 'IGL01823:Evc'
ID |
154594 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Evc
|
Ensembl Gene |
ENSMUSG00000029122 |
Gene Name |
EvC ciliary complex subunit 1 |
Synonyms |
Ellis van Creveld gene syndrome |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
IGL01823
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
37446442-37494238 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37485865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 104
(N104D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109785
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031005]
[ENSMUST00000114148]
[ENSMUST00000114154]
|
AlphaFold |
P57680 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031005
AA Change: N104D
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031005 Gene: ENSMUSG00000029122 AA Change: N104D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
low complexity region
|
77 |
92 |
N/A |
INTRINSIC |
low complexity region
|
173 |
183 |
N/A |
INTRINSIC |
low complexity region
|
449 |
472 |
N/A |
INTRINSIC |
low complexity region
|
640 |
652 |
N/A |
INTRINSIC |
low complexity region
|
670 |
682 |
N/A |
INTRINSIC |
coiled coil region
|
694 |
725 |
N/A |
INTRINSIC |
low complexity region
|
772 |
786 |
N/A |
INTRINSIC |
coiled coil region
|
871 |
911 |
N/A |
INTRINSIC |
low complexity region
|
927 |
944 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114148
AA Change: N104D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109785 Gene: ENSMUSG00000029122 AA Change: N104D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
low complexity region
|
77 |
92 |
N/A |
INTRINSIC |
low complexity region
|
173 |
183 |
N/A |
INTRINSIC |
low complexity region
|
449 |
472 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114154
|
SMART Domains |
Protein: ENSMUSP00000109791 Gene: ENSMUSG00000029122
Domain | Start | End | E-Value | Type |
low complexity region
|
272 |
295 |
N/A |
INTRINSIC |
low complexity region
|
463 |
475 |
N/A |
INTRINSIC |
low complexity region
|
493 |
505 |
N/A |
INTRINSIC |
coiled coil region
|
517 |
548 |
N/A |
INTRINSIC |
low complexity region
|
595 |
609 |
N/A |
INTRINSIC |
coiled coil region
|
694 |
734 |
N/A |
INTRINSIC |
low complexity region
|
750 |
767 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133376
|
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 containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele exhibit some lethality shortly after birth and exhibit aphagia, infertile, teeth abnormalities, short limbs and long bones, delays in ossification, and short ribs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bmp6 |
A |
G |
13: 38,682,798 (GRCm39) |
T460A |
probably damaging |
Het |
Cd209a |
T |
C |
8: 3,798,851 (GRCm39) |
|
probably benign |
Het |
Dock2 |
A |
G |
11: 34,212,391 (GRCm39) |
L1250P |
probably damaging |
Het |
Fam161a |
A |
T |
11: 22,965,785 (GRCm39) |
E26V |
probably damaging |
Het |
Foxa3 |
T |
C |
7: 18,748,443 (GRCm39) |
T228A |
probably benign |
Het |
Gm8206 |
A |
T |
14: 6,017,078 (GRCm38) |
D133E |
probably benign |
Het |
Ighv1-15 |
T |
A |
12: 114,621,212 (GRCm39) |
T38S |
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,719,091 (GRCm39) |
D266G |
possibly damaging |
Het |
Man2a1 |
T |
C |
17: 64,973,819 (GRCm39) |
I365T |
probably damaging |
Het |
Mcm4 |
T |
C |
16: 15,443,995 (GRCm39) |
D756G |
probably damaging |
Het |
Mroh9 |
G |
A |
1: 162,883,178 (GRCm39) |
L434F |
probably benign |
Het |
Or13p4 |
A |
G |
4: 118,546,918 (GRCm39) |
C244R |
probably damaging |
Het |
Or14c45 |
T |
C |
7: 86,176,249 (GRCm39) |
C95R |
probably damaging |
Het |
Phldb2 |
T |
A |
16: 45,645,507 (GRCm39) |
Y313F |
probably damaging |
Het |
Psd4 |
A |
G |
2: 24,284,444 (GRCm39) |
S103G |
probably benign |
Het |
Ripk4 |
T |
C |
16: 97,556,483 (GRCm39) |
I87V |
possibly damaging |
Het |
Scn9a |
A |
T |
2: 66,314,386 (GRCm39) |
F1766L |
probably damaging |
Het |
Slc10a5 |
A |
T |
3: 10,399,574 (GRCm39) |
V362D |
possibly damaging |
Het |
Slc12a3 |
A |
G |
8: 95,083,724 (GRCm39) |
D917G |
probably benign |
Het |
Slc30a4 |
A |
G |
2: 122,544,012 (GRCm39) |
V110A |
probably damaging |
Het |
Slc30a8 |
A |
G |
15: 52,159,358 (GRCm39) |
|
probably benign |
Het |
Slc5a8 |
T |
A |
10: 88,755,334 (GRCm39) |
C480* |
probably null |
Het |
Tmppe |
A |
G |
9: 114,234,175 (GRCm39) |
K158R |
probably benign |
Het |
Tubb6 |
A |
G |
18: 67,535,343 (GRCm39) |
N414S |
probably damaging |
Het |
Wnt8a |
A |
T |
18: 34,677,846 (GRCm39) |
T85S |
possibly damaging |
Het |
|
Other mutations in Evc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01399:Evc
|
APN |
5 |
37,490,357 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01799:Evc
|
APN |
5 |
37,482,258 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01806:Evc
|
APN |
5 |
37,477,578 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02821:Evc
|
APN |
5 |
37,483,740 (GRCm39) |
missense |
probably benign |
0.01 |
R0312:Evc
|
UTSW |
5 |
37,485,885 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0355:Evc
|
UTSW |
5 |
37,473,656 (GRCm39) |
splice site |
probably benign |
|
R0741:Evc
|
UTSW |
5 |
37,483,739 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0745:Evc
|
UTSW |
5 |
37,476,403 (GRCm39) |
missense |
probably damaging |
0.99 |
R1498:Evc
|
UTSW |
5 |
37,481,044 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1517:Evc
|
UTSW |
5 |
37,476,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R2680:Evc
|
UTSW |
5 |
37,467,581 (GRCm39) |
missense |
probably benign |
|
R2867:Evc
|
UTSW |
5 |
37,473,619 (GRCm39) |
intron |
probably benign |
|
R4585:Evc
|
UTSW |
5 |
37,481,057 (GRCm39) |
missense |
probably damaging |
0.96 |
R4586:Evc
|
UTSW |
5 |
37,481,057 (GRCm39) |
missense |
probably damaging |
0.96 |
R4731:Evc
|
UTSW |
5 |
37,481,141 (GRCm39) |
missense |
probably benign |
0.38 |
R4859:Evc
|
UTSW |
5 |
37,458,253 (GRCm39) |
missense |
probably damaging |
0.96 |
R4963:Evc
|
UTSW |
5 |
37,479,393 (GRCm39) |
critical splice donor site |
probably null |
|
R5536:Evc
|
UTSW |
5 |
37,483,927 (GRCm39) |
splice site |
probably benign |
|
R5693:Evc
|
UTSW |
5 |
37,477,584 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5781:Evc
|
UTSW |
5 |
37,483,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R6251:Evc
|
UTSW |
5 |
37,457,843 (GRCm39) |
missense |
probably benign |
|
R7061:Evc
|
UTSW |
5 |
37,476,446 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7286:Evc
|
UTSW |
5 |
37,479,527 (GRCm39) |
nonsense |
probably null |
|
R7503:Evc
|
UTSW |
5 |
37,458,111 (GRCm39) |
missense |
unknown |
|
R7831:Evc
|
UTSW |
5 |
37,476,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R8344:Evc
|
UTSW |
5 |
37,471,872 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8853:Evc
|
UTSW |
5 |
37,460,647 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9222:Evc
|
UTSW |
5 |
37,477,650 (GRCm39) |
missense |
probably benign |
0.04 |
R9396:Evc
|
UTSW |
5 |
37,476,434 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9583:Evc
|
UTSW |
5 |
37,473,701 (GRCm39) |
nonsense |
probably null |
|
R9650:Evc
|
UTSW |
5 |
37,458,162 (GRCm39) |
missense |
probably damaging |
0.96 |
X0012:Evc
|
UTSW |
5 |
37,458,073 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2014-02-04 |