Incidental Mutation 'R0741:Evc'
| ID |
70678 |
| 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 |
038922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R0741 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
37446442-37494238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37483739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 187
(I187N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031005]
[ENSMUST00000114148]
[ENSMUST00000114154]
|
| AlphaFold |
P57680 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031005
AA Change: I187N
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: I187N
| 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 |
possibly damaging
Transcript: ENSMUST00000114148
AA Change: I187N
PolyPhen 2
Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: I187N
| 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: I10N
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: I10N
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
T |
A |
1: 93,329,309 (GRCm39) |
I701N |
probably damaging |
Het |
| Asb7 |
A |
T |
7: 66,309,882 (GRCm39) |
N111K |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,478,337 (GRCm39) |
L1460Q |
possibly damaging |
Het |
| Auh |
T |
C |
13: 53,083,638 (GRCm39) |
T14A |
possibly damaging |
Het |
| Caskin2 |
A |
G |
11: 115,695,626 (GRCm39) |
V245A |
probably damaging |
Het |
| Cryba4 |
G |
A |
5: 112,394,554 (GRCm39) |
R192C |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,184,019 (GRCm39) |
D301V |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,468,154 (GRCm39) |
E56G |
possibly damaging |
Het |
| Dtd2 |
T |
C |
12: 52,046,455 (GRCm39) |
K128R |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,790,141 (GRCm39) |
T141A |
probably benign |
Het |
| Fam120a |
A |
G |
13: 49,045,416 (GRCm39) |
S807P |
possibly damaging |
Het |
| Fbxw22 |
G |
A |
9: 109,211,287 (GRCm39) |
S338L |
probably benign |
Het |
| Gcnt4 |
G |
T |
13: 97,082,940 (GRCm39) |
E79* |
probably null |
Het |
| Get4 |
G |
A |
5: 139,249,384 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,654,128 (GRCm39) |
V954A |
probably benign |
Het |
| Ifi206 |
C |
T |
1: 173,301,315 (GRCm39) |
V788M |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,370,735 (GRCm39) |
S1545P |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,482 (GRCm39) |
T933A |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,899,472 (GRCm39) |
L393P |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,727,658 (GRCm39) |
|
probably null |
Het |
| Nes |
A |
G |
3: 87,886,274 (GRCm39) |
E1467G |
probably damaging |
Het |
| Nol3 |
C |
G |
8: 106,005,756 (GRCm39) |
A50G |
probably damaging |
Het |
| Nr2f2 |
G |
A |
7: 70,007,745 (GRCm39) |
R113C |
probably damaging |
Het |
| Obscn |
CCACACACACACAC |
CCACACACACAC |
11: 58,954,279 (GRCm39) |
|
probably null |
Het |
| Or10a3m |
T |
A |
7: 108,312,811 (GRCm39) |
C84S |
probably benign |
Het |
| Pnkd |
T |
A |
1: 74,391,018 (GRCm39) |
S337R |
possibly damaging |
Het |
| Ptprh |
A |
G |
7: 4,557,172 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
A |
C |
12: 55,723,366 (GRCm39) |
V1767G |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Skap1 |
A |
C |
11: 96,383,759 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,722,902 (GRCm39) |
S1250P |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,236 (GRCm39) |
H50R |
possibly damaging |
Het |
| Usp25 |
C |
A |
16: 76,868,596 (GRCm39) |
D332E |
possibly damaging |
Het |
| Vgll1 |
A |
T |
X: 56,141,644 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTCCCTTTGCCATGCAATG -3'
(R):5'- TGAAAACCTGACACAGGCAGCG -3'
Sequencing Primer
(F):5'- cactgctaccttgtcacctc -3'
(R):5'- AGCAGAGGCCTCACCAGCCA -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation