Incidental Mutation 'IGL01806:Evc'
| ID |
155690 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Evc
|
| Ensembl Gene |
ENSMUSG00000029122 |
| Gene Name |
EvC ciliary complex subunit 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
IGL01806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
37289098-37336894 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 37320234 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031005]
[ENSMUST00000114148]
[ENSMUST00000114154]
|
| AlphaFold |
P57680 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031005
|
| SMART Domains |
Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
| 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 null
Transcript: ENSMUST00000114148
|
| SMART Domains |
Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
| 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 null
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: ENSMUST00000124426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133376
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154885
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
C |
8: 95,012,931 |
S670P |
probably damaging |
Het |
| Ap5m1 |
T |
A |
14: 49,080,340 |
F351L |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,614,268 |
Y38C |
probably damaging |
Het |
| Ccdc28a |
C |
T |
10: 18,219,514 |
A151T |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,650,322 |
E976G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,536,820 |
Y189C |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,533,305 |
V101A |
probably damaging |
Het |
| Fastkd5 |
A |
G |
2: 130,615,612 |
Y353H |
probably benign |
Het |
| Gm6408 |
G |
A |
5: 146,482,082 |
R30H |
probably damaging |
Het |
| Lhx8 |
A |
G |
3: 154,322,355 |
S156P |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,698,957 |
I1449M |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,580,600 |
V27E |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,657,939 |
V226A |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,124,212 |
S1076P |
possibly damaging |
Het |
| Olfr522 |
G |
T |
7: 140,162,928 |
N7K |
probably benign |
Het |
| Olfr619 |
C |
T |
7: 103,604,341 |
A229V |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,342,495 |
D228G |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,703,757 |
S414P |
probably benign |
Het |
| Plcd4 |
G |
A |
1: 74,552,033 |
V196I |
probably benign |
Het |
| Proca1 |
A |
G |
11: 78,204,911 |
D123G |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,254,915 |
|
probably null |
Het |
| Ptprq |
C |
A |
10: 107,699,608 |
R432L |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 29,139,050 |
K108E |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,411,464 |
|
probably null |
Het |
| Srpr |
A |
G |
9: 35,214,905 |
T465A |
possibly damaging |
Het |
| Tmpo |
G |
A |
10: 91,163,242 |
R228C |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,767,867 |
V793M |
possibly damaging |
Het |
|
| Other mutations in Evc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Evc
|
APN |
5 |
37,333,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01799:Evc
|
APN |
5 |
37,324,914 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL01823:Evc
|
APN |
5 |
37,328,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02821:Evc
|
APN |
5 |
37,326,396 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0312:Evc
|
UTSW |
5 |
37,328,541 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0355:Evc
|
UTSW |
5 |
37,316,312 (GRCm38) |
splice site |
probably benign |
|
|
R0741:Evc
|
UTSW |
5 |
37,326,395 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R0745:Evc
|
UTSW |
5 |
37,319,059 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1498:Evc
|
UTSW |
5 |
37,323,700 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1517:Evc
|
UTSW |
5 |
37,319,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2680:Evc
|
UTSW |
5 |
37,310,237 (GRCm38) |
missense |
probably benign |
|
|
R2867:Evc
|
UTSW |
5 |
37,316,275 (GRCm38) |
intron |
probably benign |
|
|
R4585:Evc
|
UTSW |
5 |
37,323,713 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4586:Evc
|
UTSW |
5 |
37,323,713 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4731:Evc
|
UTSW |
5 |
37,323,797 (GRCm38) |
missense |
probably benign |
0.38 |
|
R4859:Evc
|
UTSW |
5 |
37,300,909 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4963:Evc
|
UTSW |
5 |
37,322,049 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5536:Evc
|
UTSW |
5 |
37,326,583 (GRCm38) |
splice site |
probably benign |
|
|
R5693:Evc
|
UTSW |
5 |
37,320,240 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5781:Evc
|
UTSW |
5 |
37,326,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6251:Evc
|
UTSW |
5 |
37,300,499 (GRCm38) |
missense |
probably benign |
|
|
R7061:Evc
|
UTSW |
5 |
37,319,102 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R7286:Evc
|
UTSW |
5 |
37,322,183 (GRCm38) |
nonsense |
probably null |
|
|
R7503:Evc
|
UTSW |
5 |
37,300,767 (GRCm38) |
missense |
unknown |
|
|
R7831:Evc
|
UTSW |
5 |
37,319,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8344:Evc
|
UTSW |
5 |
37,314,528 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8853:Evc
|
UTSW |
5 |
37,303,303 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9222:Evc
|
UTSW |
5 |
37,320,306 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9396:Evc
|
UTSW |
5 |
37,319,090 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9583:Evc
|
UTSW |
5 |
37,316,357 (GRCm38) |
nonsense |
probably null |
|
|
R9650:Evc
|
UTSW |
5 |
37,300,818 (GRCm38) |
missense |
probably damaging |
0.96 |
|
X0012:Evc
|
UTSW |
5 |
37,300,729 (GRCm38) |
intron |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation