Incidental Mutation 'IGL02111:Egfem1'
| ID |
280178 |
| 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 # |
IGL02111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
29136172-29745358 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 29705045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118531]
[ENSMUST00000119598]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118531
|
| SMART Domains |
Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
| 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 null
Transcript: ENSMUST00000119598
|
| SMART Domains |
Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
| 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 |
probably benign
Transcript: ENSMUST00000140288
|
| SMART Domains |
Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143483
|
| SMART Domains |
Protein: ENSMUSP00000114146
Gene: ENSMUSG00000063600
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
22 |
59 |
2.16e1 |
SMART |
|
EGF_CA
|
60 |
100 |
2.66e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
G |
A |
8: 95,761,627 (GRCm39) |
R130Q |
probably damaging |
Het |
| Adipor2 |
A |
T |
6: 119,347,157 (GRCm39) |
L42* |
probably null |
Het |
| Ankrd45 |
A |
G |
1: 160,990,921 (GRCm39) |
K259E |
probably damaging |
Het |
| Apoc3 |
T |
C |
9: 46,145,772 (GRCm39) |
K79R |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,381,764 (GRCm39) |
Y416H |
probably damaging |
Het |
| Armc5 |
A |
G |
7: 127,843,255 (GRCm39) |
T683A |
probably benign |
Het |
| Bora |
T |
C |
14: 99,284,813 (GRCm39) |
V21A |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,497,003 (GRCm39) |
S2189N |
probably damaging |
Het |
| Cct2 |
G |
A |
10: 116,889,017 (GRCm39) |
T57I |
probably damaging |
Het |
| Cd200r1 |
A |
T |
16: 44,609,144 (GRCm39) |
N34Y |
probably damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,219 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
G |
A |
1: 116,017,082 (GRCm39) |
R225H |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,409,103 (GRCm39) |
D447V |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,852,392 (GRCm39) |
|
probably benign |
Het |
| Dap3 |
G |
A |
3: 88,836,725 (GRCm39) |
T92I |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,855,994 (GRCm39) |
L254P |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,622,847 (GRCm39) |
L275P |
possibly damaging |
Het |
| Fam161a |
A |
T |
11: 22,970,026 (GRCm39) |
H68L |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,568,001 (GRCm39) |
E100G |
possibly damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
| Gm10136 |
T |
C |
19: 28,981,122 (GRCm39) |
K41E |
probably benign |
Het |
| Gm10797 |
C |
T |
10: 67,408,397 (GRCm39) |
|
noncoding transcript |
Het |
| Hsf1 |
A |
G |
15: 76,380,281 (GRCm39) |
|
probably benign |
Het |
| Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
| Itfg2 |
T |
C |
6: 128,387,344 (GRCm39) |
H422R |
probably benign |
Het |
| Lrp4 |
G |
T |
2: 91,336,404 (GRCm39) |
L1738F |
probably damaging |
Het |
| Matcap2 |
T |
C |
9: 22,335,475 (GRCm39) |
I31T |
probably benign |
Het |
| Mettl17 |
A |
G |
14: 52,128,843 (GRCm39) |
E371G |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,747,503 (GRCm39) |
L454Q |
probably damaging |
Het |
| Myh10 |
A |
T |
11: 68,680,938 (GRCm39) |
E956V |
probably damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,324,944 (GRCm39) |
M1K |
probably null |
Het |
| Or2d3c |
A |
C |
7: 106,525,823 (GRCm39) |
V281G |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,706,152 (GRCm39) |
D233G |
probably benign |
Het |
| Or5d36 |
T |
A |
2: 87,901,571 (GRCm39) |
N52Y |
probably benign |
Het |
| Otop1 |
T |
A |
5: 38,435,045 (GRCm39) |
C89S |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,623,181 (GRCm39) |
R775L |
probably benign |
Het |
| Prpf19 |
A |
G |
19: 10,882,458 (GRCm39) |
T512A |
probably benign |
Het |
| Prpf4b |
T |
A |
13: 35,067,944 (GRCm39) |
S258T |
probably benign |
Het |
| Rhbdl2 |
T |
C |
4: 123,716,630 (GRCm39) |
Y196H |
probably damaging |
Het |
| Rnf187 |
T |
C |
11: 58,828,006 (GRCm39) |
D148G |
probably damaging |
Het |
| Sbds |
A |
G |
5: 130,279,782 (GRCm39) |
I74T |
probably damaging |
Het |
| Sec63 |
T |
C |
10: 42,686,884 (GRCm39) |
V468A |
probably damaging |
Het |
| Slc35b3 |
A |
T |
13: 39,139,758 (GRCm39) |
M23K |
probably damaging |
Het |
| Slc6a9 |
A |
T |
4: 117,721,210 (GRCm39) |
Y208F |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,895,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Sorcs1 |
T |
G |
19: 50,218,683 (GRCm39) |
M600L |
probably benign |
Het |
| Supt7l |
T |
C |
5: 31,673,022 (GRCm39) |
|
probably null |
Het |
| Tecrl |
T |
A |
5: 83,502,639 (GRCm39) |
Q70L |
probably damaging |
Het |
| Tedc2 |
A |
T |
17: 24,437,140 (GRCm39) |
|
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,191,353 (GRCm39) |
D99G |
probably damaging |
Het |
| Tmem126b |
G |
T |
7: 90,118,269 (GRCm39) |
Q204K |
probably damaging |
Het |
| Tmem181c-ps |
A |
T |
17: 6,887,766 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem184a |
G |
T |
5: 139,798,856 (GRCm39) |
T31K |
possibly damaging |
Het |
| Tmprss11e |
T |
A |
5: 86,867,660 (GRCm39) |
I137F |
possibly damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,247,403 (GRCm39) |
T255I |
probably damaging |
Het |
| Top1mt |
G |
A |
15: 75,537,555 (GRCm39) |
|
probably benign |
Het |
| Treh |
C |
T |
9: 44,594,258 (GRCm39) |
T168I |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,597,672 (GRCm39) |
I11420N |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,641 (GRCm39) |
K705E |
possibly damaging |
Het |
| Zw10 |
T |
C |
9: 48,980,054 (GRCm39) |
I395T |
probably damaging |
Het |
|
| Other mutations in Egfem1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Egfem1
|
APN |
3 |
29,711,302 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
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 |
2015-04-16 |
Incidental Mutation