Incidental Mutation 'IGL00766:Egfem1'
| ID |
12599 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Egfem1
|
| Ensembl Gene |
ENSMUSG00000063600 |
| Gene Name |
EGF-like and EMI domain containing 1 |
| Synonyms |
6130401L20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00766
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
29136172-29745358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29711302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 237
(I237V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118531]
[ENSMUST00000119598]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118531
AA Change: I237V
PolyPhen 2
Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: I237V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
30 |
104 |
1.4e-15 |
PFAM |
|
Blast:EGF_like
|
108 |
145 |
7e-10 |
BLAST |
|
EGF
|
150 |
187 |
2.16e1 |
SMART |
|
EGF_CA
|
188 |
228 |
2.66e-10 |
SMART |
|
EGF
|
237 |
274 |
1.08e-1 |
SMART |
|
EGF_like
|
275 |
313 |
9.19e-5 |
SMART |
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
371 |
N/A |
INTRINSIC |
|
EGF
|
391 |
424 |
1.09e1 |
SMART |
|
Blast:EGF_like
|
449 |
481 |
5e-10 |
BLAST |
|
EGF
|
492 |
526 |
2.43e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119598
AA Change: I294V
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: I294V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
31 |
102 |
1.1e-15 |
PFAM |
|
Blast:EGF_like
|
108 |
145 |
6e-10 |
BLAST |
|
EGF_CA
|
164 |
204 |
1.61e-9 |
SMART |
|
EGF
|
208 |
244 |
6.4e-4 |
SMART |
|
EGF_CA
|
245 |
285 |
1.81e-12 |
SMART |
|
EGF
|
294 |
331 |
1.08e-1 |
SMART |
|
EGF_like
|
332 |
370 |
9.19e-5 |
SMART |
|
low complexity region
|
374 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
428 |
N/A |
INTRINSIC |
|
EGF
|
448 |
481 |
1.09e1 |
SMART |
|
Blast:EGF_like
|
506 |
538 |
5e-10 |
BLAST |
|
EGF
|
549 |
583 |
2.43e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126420
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140288
AA Change: I84V
|
| SMART Domains |
Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600
AA Change: I84V
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_like
|
5 |
35 |
4.32e-1 |
SMART |
|
EGF_CA
|
36 |
76 |
2.66e-10 |
SMART |
|
EGF
|
85 |
122 |
1.08e-1 |
SMART |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
EGF
|
198 |
231 |
1.09e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
A |
5: 81,942,415 (GRCm39) |
D1379E |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,260 (GRCm39) |
T1794A |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,990,216 (GRCm39) |
D779V |
probably damaging |
Het |
| Ap3b1 |
G |
T |
13: 94,679,392 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,270,012 (GRCm39) |
V379A |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,006 (GRCm39) |
Y398C |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,268,286 (GRCm39) |
R800C |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,451,046 (GRCm39) |
H306Q |
probably damaging |
Het |
| Cckar |
C |
A |
5: 53,857,378 (GRCm39) |
R344L |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,281,648 (GRCm39) |
Q2829L |
unknown |
Het |
| Erlec1 |
T |
A |
11: 30,900,623 (GRCm39) |
K143* |
probably null |
Het |
| Glyat |
T |
G |
19: 12,628,626 (GRCm39) |
D140E |
probably benign |
Het |
| Grhl2 |
T |
C |
15: 37,336,545 (GRCm39) |
F50L |
probably damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,373 (GRCm39) |
V151A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,023 (GRCm39) |
Y2368C |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Itga7 |
G |
T |
10: 128,777,723 (GRCm39) |
D235Y |
possibly damaging |
Het |
| Kctd3 |
C |
T |
1: 188,727,973 (GRCm39) |
V199I |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,615,443 (GRCm39) |
|
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,810,193 (GRCm39) |
|
probably benign |
Het |
| Nepro |
C |
T |
16: 44,549,668 (GRCm39) |
Q43* |
probably null |
Het |
| Ophn1 |
T |
C |
X: 97,846,720 (GRCm39) |
D74G |
probably damaging |
Het |
| Plau |
A |
G |
14: 20,888,635 (GRCm39) |
N84S |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,672,691 (GRCm39) |
V904A |
possibly damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,466 (GRCm39) |
K330E |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,814,570 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,181 (GRCm39) |
I386S |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,609 (GRCm39) |
Y264H |
probably damaging |
Het |
| Sulf1 |
A |
C |
1: 12,890,687 (GRCm39) |
D375A |
probably damaging |
Het |
| Tesl1 |
C |
A |
X: 23,772,838 (GRCm39) |
A113E |
probably benign |
Het |
| Tgfbi |
A |
G |
13: 56,778,408 (GRCm39) |
D393G |
probably benign |
Het |
| Trim59 |
A |
C |
3: 68,944,712 (GRCm39) |
D209E |
probably benign |
Het |
| Ubqln3 |
G |
T |
7: 103,792,031 (GRCm39) |
Q20K |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,168,077 (GRCm39) |
D2808G |
probably damaging |
Het |
|
| Other mutations in Egfem1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02111:Egfem1
|
APN |
3 |
29,705,045 (GRCm39) |
splice site |
probably null |
|
|
IGL02325:Egfem1
|
APN |
3 |
29,206,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02450:Egfem1
|
APN |
3 |
29,711,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02543:Egfem1
|
APN |
3 |
29,722,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02835:Egfem1
|
UTSW |
3 |
29,711,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0033:Egfem1
|
UTSW |
3 |
29,744,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Egfem1
|
UTSW |
3 |
29,637,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Egfem1
|
UTSW |
3 |
29,744,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Egfem1
|
UTSW |
3 |
29,722,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1479:Egfem1
|
UTSW |
3 |
29,711,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Egfem1
|
UTSW |
3 |
29,702,420 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1754:Egfem1
|
UTSW |
3 |
29,722,482 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2568:Egfem1
|
UTSW |
3 |
29,637,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Egfem1
|
UTSW |
3 |
29,724,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3411:Egfem1
|
UTSW |
3 |
29,637,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Egfem1
|
UTSW |
3 |
29,206,075 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4049:Egfem1
|
UTSW |
3 |
29,740,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4851:Egfem1
|
UTSW |
3 |
29,206,032 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4917:Egfem1
|
UTSW |
3 |
29,206,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Egfem1
|
UTSW |
3 |
29,206,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Egfem1
|
UTSW |
3 |
29,637,145 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4997:Egfem1
|
UTSW |
3 |
29,207,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5148:Egfem1
|
UTSW |
3 |
29,511,972 (GRCm39) |
intron |
probably benign |
|
|
R5194:Egfem1
|
UTSW |
3 |
29,411,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5284:Egfem1
|
UTSW |
3 |
29,704,936 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5354:Egfem1
|
UTSW |
3 |
29,136,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5627:Egfem1
|
UTSW |
3 |
29,722,548 (GRCm39) |
nonsense |
probably null |
|
|
R5677:Egfem1
|
UTSW |
3 |
29,744,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5928:Egfem1
|
UTSW |
3 |
29,637,077 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5982:Egfem1
|
UTSW |
3 |
29,711,419 (GRCm39) |
splice site |
probably null |
|
|
R6419:Egfem1
|
UTSW |
3 |
29,711,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Egfem1
|
UTSW |
3 |
29,711,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6586:Egfem1
|
UTSW |
3 |
29,716,560 (GRCm39) |
nonsense |
probably null |
|
|
R7046:Egfem1
|
UTSW |
3 |
29,136,364 (GRCm39) |
splice site |
probably null |
|
|
R7079:Egfem1
|
UTSW |
3 |
29,207,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7308:Egfem1
|
UTSW |
3 |
29,206,015 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7362:Egfem1
|
UTSW |
3 |
29,206,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7684:Egfem1
|
UTSW |
3 |
29,744,334 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7697:Egfem1
|
UTSW |
3 |
29,744,346 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7814:Egfem1
|
UTSW |
3 |
29,740,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Egfem1
|
UTSW |
3 |
29,711,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8429:Egfem1
|
UTSW |
3 |
29,711,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8928:Egfem1
|
UTSW |
3 |
29,744,561 (GRCm39) |
makesense |
probably null |
|
|
R9210:Egfem1
|
UTSW |
3 |
29,207,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Egfem1
|
UTSW |
3 |
29,411,317 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9230:Egfem1
|
UTSW |
3 |
29,411,317 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9720:Egfem1
|
UTSW |
3 |
29,716,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Egfem1
|
UTSW |
3 |
29,716,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Egfem1
|
UTSW |
3 |
29,711,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Egfem1
|
UTSW |
3 |
29,202,602 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Posted On |
2012-12-06 |
Incidental Mutation