Incidental Mutation 'R5536:Evc'
ID |
501137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Evc
|
Ensembl Gene |
ENSMUSG00000029122 |
Gene Name |
EvC ciliary complex subunit 1 |
Synonyms |
Ellis van Creveld gene syndrome |
MMRRC Submission |
043094-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R5536 (G1)
|
Quality Score |
103 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
37446442-37494238 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 37483927 bp (GRCm39)
|
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 |
silent
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 |
silent
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 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,772,149 (GRCm39) |
G446V |
possibly damaging |
Het |
Aadac |
T |
G |
3: 59,946,984 (GRCm39) |
N227K |
probably benign |
Het |
Acap1 |
C |
T |
11: 69,780,133 (GRCm39) |
G74R |
probably benign |
Het |
Adrm1 |
A |
G |
2: 179,813,981 (GRCm39) |
|
probably benign |
Het |
Appl1 |
G |
C |
14: 26,645,737 (GRCm39) |
S691* |
probably null |
Het |
Atp2a2 |
T |
C |
5: 122,595,245 (GRCm39) |
D1035G |
probably benign |
Het |
AW551984 |
A |
G |
9: 39,504,169 (GRCm39) |
I599T |
probably benign |
Het |
Col23a1 |
C |
A |
11: 51,458,776 (GRCm39) |
D304E |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,338,674 (GRCm39) |
R478G |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,464,412 (GRCm39) |
N3660D |
probably benign |
Het |
Drosha |
T |
A |
15: 12,929,797 (GRCm39) |
Y1331N |
possibly damaging |
Het |
E2f6 |
T |
G |
12: 16,874,685 (GRCm39) |
S256A |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
Galnt2 |
T |
C |
8: 125,050,412 (GRCm39) |
C91R |
probably damaging |
Het |
Gm3095 |
G |
T |
14: 15,170,371 (GRCm39) |
M73I |
probably benign |
Het |
Gpr179 |
T |
A |
11: 97,234,641 (GRCm39) |
Q480L |
probably damaging |
Het |
Gucy2g |
T |
A |
19: 55,226,359 (GRCm39) |
I186F |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,631,042 (GRCm39) |
I919F |
probably benign |
Het |
Kdm3a |
A |
C |
6: 71,588,920 (GRCm39) |
V363G |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lama5 |
C |
T |
2: 179,831,142 (GRCm39) |
R1839H |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,707,389 (GRCm39) |
D208G |
probably damaging |
Het |
Lpp |
A |
G |
16: 24,663,956 (GRCm39) |
D411G |
possibly damaging |
Het |
Marco |
T |
C |
1: 120,432,464 (GRCm39) |
S8G |
possibly damaging |
Het |
Mthfr |
T |
C |
4: 148,128,940 (GRCm39) |
F171S |
probably damaging |
Het |
Nlrx1 |
A |
T |
9: 44,175,183 (GRCm39) |
S198T |
probably damaging |
Het |
Nol10 |
C |
A |
12: 17,466,138 (GRCm39) |
S511* |
probably null |
Het |
Nup153 |
T |
C |
13: 46,836,485 (GRCm39) |
T1375A |
probably benign |
Het |
Obscn |
A |
G |
11: 58,998,697 (GRCm39) |
S1367P |
probably damaging |
Het |
Or4x6 |
A |
G |
2: 89,949,183 (GRCm39) |
V253A |
probably benign |
Het |
Pcdha7 |
G |
A |
18: 37,108,303 (GRCm39) |
V443M |
probably damaging |
Het |
Plekha1 |
G |
T |
7: 130,511,331 (GRCm39) |
R305I |
probably damaging |
Het |
Psmb2 |
T |
A |
4: 126,578,002 (GRCm39) |
I60N |
probably damaging |
Het |
Rad17 |
C |
A |
13: 100,767,612 (GRCm39) |
G330C |
probably damaging |
Het |
Slc5a6 |
A |
G |
5: 31,200,446 (GRCm39) |
S80P |
probably damaging |
Het |
Srgap2 |
T |
A |
1: 131,228,128 (GRCm39) |
|
probably null |
Het |
Taf8 |
C |
A |
17: 47,805,407 (GRCm39) |
R164L |
possibly damaging |
Het |
Tmem87a |
C |
A |
2: 120,227,911 (GRCm39) |
D79Y |
probably damaging |
Het |
Tmtc4 |
G |
A |
14: 123,170,291 (GRCm39) |
R574W |
probably benign |
Het |
Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
Usf3 |
A |
G |
16: 44,037,733 (GRCm39) |
T738A |
probably benign |
Het |
Vmn2r54 |
A |
C |
7: 12,366,343 (GRCm39) |
V197G |
probably benign |
Het |
Zbtb40 |
G |
T |
4: 136,714,642 (GRCm39) |
P1049Q |
probably damaging |
Het |
Zfp551 |
A |
T |
7: 12,149,488 (GRCm39) |
S640R |
possibly damaging |
Het |
Zfp932 |
T |
A |
5: 110,157,713 (GRCm39) |
C470* |
probably null |
Het |
Zkscan8 |
T |
C |
13: 21,710,838 (GRCm39) |
I91V |
probably damaging |
Het |
Zmat4 |
T |
C |
8: 24,238,508 (GRCm39) |
V30A |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAAGGCACACTGGAGGATCC -3'
(R):5'- TGGGGACAGATCCTAATGGCTC -3'
Sequencing Primer
(F):5'- ATCCGGTCGTCGCTGTAG -3'
(R):5'- ATCCTAATGGCTCCAGGGTAG -3'
|
Posted On |
2017-12-01 |