Incidental Mutation 'R0024:Emid1'
| ID |
177912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emid1
|
| Ensembl Gene |
ENSMUSG00000034164 |
| Gene Name |
EMI domain containing 1 |
| Synonyms |
CO-5, Emu1 |
| MMRRC Submission |
038319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0024 (G1)
|
| Quality Score |
45 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
5056265-5102257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5093869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 93
(W93R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062821]
[ENSMUST00000156492]
[ENSMUST00000163299]
|
| AlphaFold |
Q91VF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062821
AA Change: W93R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061704
Gene: ENSMUSG00000034164
AA Change: W93R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
34 |
101 |
8.7e-18 |
PFAM |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
267 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
282 |
342 |
5e-10 |
PFAM |
|
Pfam:Collagen
|
312 |
377 |
4.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138551
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156492
AA Change: W93R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124431
Gene: ENSMUSG00000034164
AA Change: W93R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
33 |
103 |
3.5e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163299
AA Change: W91R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131391
Gene: ENSMUSG00000034164
AA Change: W91R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
33 |
101 |
7.3e-24 |
PFAM |
|
low complexity region
|
198 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
265 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
280 |
340 |
5.1e-10 |
PFAM |
|
Pfam:Collagen
|
310 |
375 |
4.3e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.9616 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,032,608 (GRCm39) |
D209V |
probably damaging |
Het |
| Abtb3 |
A |
G |
10: 85,223,311 (GRCm39) |
D40G |
unknown |
Het |
| Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
| Chdh |
G |
A |
14: 29,753,553 (GRCm39) |
R154H |
possibly damaging |
Het |
| Grid2ip |
T |
A |
5: 143,376,796 (GRCm39) |
S947T |
probably damaging |
Het |
| Gstt4 |
T |
A |
10: 75,653,038 (GRCm39) |
M175L |
possibly damaging |
Het |
| Hectd4 |
C |
T |
5: 121,446,639 (GRCm39) |
T242I |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
| Kif13b |
A |
G |
14: 64,987,722 (GRCm39) |
I750V |
probably benign |
Het |
| Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
| Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
| Myof |
G |
T |
19: 37,904,188 (GRCm39) |
T4N |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,448,194 (GRCm39) |
M306T |
probably benign |
Het |
| P3h3 |
T |
C |
6: 124,834,421 (GRCm39) |
Q77R |
probably benign |
Het |
| Picalm |
T |
C |
7: 89,779,912 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,581,568 (GRCm39) |
L141P |
probably damaging |
Het |
| Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
| Rgs5 |
T |
A |
1: 169,504,461 (GRCm39) |
V37D |
probably damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
| Ssh2 |
A |
T |
11: 77,345,792 (GRCm39) |
Q1259L |
possibly damaging |
Het |
| Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
probably benign |
Het |
|
| Other mutations in Emid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Emid1
|
APN |
11 |
5,093,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Emid1
|
UTSW |
11 |
5,139,704 (GRCm38) |
intron |
probably benign |
|
|
R0684:Emid1
|
UTSW |
11 |
5,093,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Emid1
|
UTSW |
11 |
5,085,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2266:Emid1
|
UTSW |
11 |
5,094,331 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4913:Emid1
|
UTSW |
11 |
5,082,012 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4942:Emid1
|
UTSW |
11 |
5,079,430 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4993:Emid1
|
UTSW |
11 |
5,081,512 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6010:Emid1
|
UTSW |
11 |
5,085,389 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8261:Emid1
|
UTSW |
11 |
5,084,353 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8786:Emid1
|
UTSW |
11 |
5,081,517 (GRCm39) |
missense |
probably benign |
|
|
RF043:Emid1
|
UTSW |
11 |
5,094,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0975:Emid1
|
UTSW |
11 |
5,094,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0975:Emid1
|
UTSW |
11 |
5,078,884 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGGCACAACAGATATGAGAATCTCC -3'
(R):5'- CCTTCTGTGGGTTTGTCTCAGGAAC -3'
Sequencing Primer
(F):5'- CAGATATGAGAATCTCCTGGGTC -3'
(R):5'- GCTCTGAGCAGCACAGTTAG -3'
|
| Posted On |
2014-04-30 |
Incidental Mutation