Incidental Mutation 'IGL01799:Evc'
| ID |
155440 |
| 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 # |
IGL01799
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
37446442-37494238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37482258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 32
(I32V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031005]
[ENSMUST00000114148]
[ENSMUST00000114154]
|
| AlphaFold |
P57680 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031005
AA Change: I209V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: I209V
| 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 benign
Transcript: ENSMUST00000114148
AA Change: I209V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: I209V
| 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 |
possibly damaging
Transcript: ENSMUST00000114154
AA Change: I32V
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: I32V
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
A |
13: 4,564,257 (GRCm39) |
|
probably null |
Het |
| Anp32a |
A |
G |
9: 62,279,092 (GRCm39) |
T35A |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,938,754 (GRCm39) |
Y119H |
probably damaging |
Het |
| Fbll1 |
A |
C |
11: 35,688,936 (GRCm39) |
V109G |
possibly damaging |
Het |
| Gli3 |
T |
C |
13: 15,900,746 (GRCm39) |
S1378P |
probably benign |
Het |
| Hcfc2 |
G |
A |
10: 82,536,825 (GRCm39) |
C79Y |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,090,911 (GRCm39) |
I741N |
possibly damaging |
Het |
| Heatr5a |
T |
C |
12: 51,944,618 (GRCm39) |
D1289G |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,891,336 (GRCm39) |
N383K |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,645,770 (GRCm39) |
L59P |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,633,757 (GRCm39) |
L743Q |
probably benign |
Het |
| Micos10 |
G |
T |
4: 138,831,308 (GRCm39) |
|
probably benign |
Het |
| Mks1 |
A |
T |
11: 87,747,689 (GRCm39) |
I191F |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,243,187 (GRCm39) |
N104K |
probably damaging |
Het |
| Ms4a6d |
A |
T |
19: 11,567,499 (GRCm39) |
I26N |
probably damaging |
Het |
| Mup17 |
T |
C |
4: 61,511,948 (GRCm39) |
T109A |
probably benign |
Het |
| Mylk4 |
T |
G |
13: 32,965,674 (GRCm39) |
E9A |
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,095,823 (GRCm39) |
V1812M |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,374,401 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,222,599 (GRCm39) |
|
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,335,276 (GRCm39) |
H771R |
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,435,476 (GRCm39) |
V642A |
possibly damaging |
Het |
| Or9g3 |
T |
A |
2: 85,589,986 (GRCm39) |
I245F |
probably benign |
Het |
| Pate12 |
T |
C |
9: 36,344,179 (GRCm39) |
L54P |
possibly damaging |
Het |
| Pi4ka |
C |
A |
16: 17,207,235 (GRCm39) |
L23F |
probably damaging |
Het |
| Rerg |
T |
A |
6: 137,033,376 (GRCm39) |
K100* |
probably null |
Het |
| Sema6c |
T |
C |
3: 95,078,142 (GRCm39) |
V506A |
probably damaging |
Het |
| Slc15a1 |
T |
G |
14: 121,718,141 (GRCm39) |
N246T |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,218,647 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
A |
G |
17: 55,899,990 (GRCm39) |
L638P |
probably damaging |
Het |
| Vmn2r80 |
G |
A |
10: 79,007,385 (GRCm39) |
G454S |
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 |
|
IGL01806:Evc
|
APN |
5 |
37,477,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01823:Evc
|
APN |
5 |
37,485,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation