Incidental Mutation 'IGL02821:Evc'
ID |
361026 |
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 # |
IGL02821
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
37446442-37494238 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37483740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 187
(I187F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031005]
[ENSMUST00000114148]
[ENSMUST00000114154]
|
AlphaFold |
P57680 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031005
AA Change: I187F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000031005 Gene: ENSMUSG00000029122 AA Change: I187F
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: I187F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109785 Gene: ENSMUSG00000029122 AA Change: I187F
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
AA Change: I10F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000109791 Gene: ENSMUSG00000029122 AA Change: I10F
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
T |
C |
14: 35,818,473 (GRCm39) |
L157S |
probably benign |
Het |
Adam15 |
A |
G |
3: 89,252,663 (GRCm39) |
S309P |
probably damaging |
Het |
Agtpbp1 |
A |
T |
13: 59,630,415 (GRCm39) |
M772K |
possibly damaging |
Het |
Ankfn1 |
T |
C |
11: 89,282,442 (GRCm39) |
M402V |
probably benign |
Het |
Anln |
G |
A |
9: 22,269,418 (GRCm39) |
T822I |
possibly damaging |
Het |
Atp13a4 |
A |
G |
16: 29,260,125 (GRCm39) |
V589A |
probably benign |
Het |
Ccm2l |
C |
T |
2: 152,909,779 (GRCm39) |
L44F |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,443,818 (GRCm39) |
L760Q |
probably damaging |
Het |
Cd177 |
G |
T |
7: 24,443,819 (GRCm39) |
L760M |
probably damaging |
Het |
Cfap69 |
T |
C |
5: 5,714,017 (GRCm39) |
E5G |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,731,600 (GRCm39) |
D1551V |
probably damaging |
Het |
Ddx20 |
A |
G |
3: 105,586,593 (GRCm39) |
V584A |
probably benign |
Het |
Dop1a |
C |
A |
9: 86,402,209 (GRCm39) |
H1136Q |
probably benign |
Het |
Egf |
T |
C |
3: 129,496,128 (GRCm39) |
E329G |
probably damaging |
Het |
Eif3c |
A |
G |
7: 126,157,831 (GRCm39) |
V337A |
probably benign |
Het |
Eif3f |
G |
T |
7: 108,533,881 (GRCm39) |
|
probably benign |
Het |
Eif3f |
C |
T |
7: 108,533,882 (GRCm39) |
|
probably benign |
Het |
Fam117a |
T |
G |
11: 95,254,815 (GRCm39) |
|
probably benign |
Het |
H2-M10.4 |
A |
T |
17: 36,771,323 (GRCm39) |
V285E |
probably damaging |
Het |
Hps4 |
G |
T |
5: 112,523,307 (GRCm39) |
M608I |
probably benign |
Het |
Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
Itgam |
A |
T |
7: 127,675,281 (GRCm39) |
M169L |
probably damaging |
Het |
Kcnn3 |
G |
A |
3: 89,570,029 (GRCm39) |
G614D |
possibly damaging |
Het |
Kcnn3 |
A |
G |
3: 89,428,281 (GRCm39) |
N169S |
possibly damaging |
Het |
Mn1 |
A |
T |
5: 111,569,717 (GRCm39) |
K1229M |
probably damaging |
Het |
Ms4a19 |
A |
G |
19: 11,118,897 (GRCm39) |
*71Q |
probably null |
Het |
Nckap5 |
A |
G |
1: 125,955,553 (GRCm39) |
M401T |
probably damaging |
Het |
Or1af1 |
T |
C |
2: 37,110,112 (GRCm39) |
S204P |
probably damaging |
Het |
Or8c13 |
T |
C |
9: 38,091,964 (GRCm39) |
N52D |
possibly damaging |
Het |
Or8d4 |
T |
G |
9: 40,038,561 (GRCm39) |
E232A |
probably benign |
Het |
Pttg1ip2 |
G |
A |
5: 5,502,039 (GRCm39) |
Q138* |
probably null |
Het |
Sim2 |
G |
A |
16: 93,898,047 (GRCm39) |
V94M |
probably damaging |
Het |
Slc46a3 |
G |
A |
5: 147,822,822 (GRCm39) |
T340M |
probably benign |
Het |
Ssc4d |
A |
G |
5: 135,994,923 (GRCm39) |
|
probably benign |
Het |
Trav12-1 |
A |
G |
14: 53,775,916 (GRCm39) |
D22G |
probably damaging |
Het |
Trgv4 |
T |
A |
13: 19,369,422 (GRCm39) |
D55E |
possibly damaging |
Het |
Trps1 |
G |
A |
15: 50,524,273 (GRCm39) |
T969M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,719,894 (GRCm39) |
|
probably benign |
Het |
Ubqln4 |
A |
G |
3: 88,470,458 (GRCm39) |
N310S |
probably benign |
Het |
Vapa |
T |
C |
17: 65,889,756 (GRCm39) |
|
probably benign |
Het |
Vmn1r65 |
T |
C |
7: 6,011,893 (GRCm39) |
T114A |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,875,332 (GRCm39) |
E1725G |
probably damaging |
Het |
Vps53 |
A |
G |
11: 76,027,143 (GRCm39) |
|
probably benign |
Het |
Xkr9 |
T |
C |
1: 13,742,799 (GRCm39) |
L28P |
probably 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 |
|
IGL01823:Evc
|
APN |
5 |
37,485,865 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-12-18 |