Incidental Mutation 'R5148:Egfem1'
| ID |
462599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Egfem1
|
| Ensembl Gene |
ENSMUSG00000063600 |
| Gene Name |
EGF-like and EMI domain containing 1 |
| Synonyms |
6130401L20Rik |
| MMRRC Submission |
043262-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5148 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
29136172-29745358 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 29511972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118531]
[ENSMUST00000119598]
[ENSMUST00000146943]
|
| 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 benign
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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146943
|
| SMART Domains |
Protein: ENSMUSP00000118156
Gene: ENSMUSG00000063600
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EMI
|
17 |
91 |
1.8e-16 |
PFAM |
|
Blast:EGF_like
|
95 |
132 |
2e-11 |
BLAST |
|
EGF
|
137 |
174 |
2.16e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
T |
3: 126,819,285 (GRCm39) |
|
probably null |
Het |
| Atf7 |
A |
G |
15: 102,455,608 (GRCm39) |
M252T |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,606,519 (GRCm39) |
D1027Y |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,992,611 (GRCm39) |
V667A |
probably benign |
Het |
| Cntf |
T |
C |
19: 12,741,368 (GRCm39) |
E164G |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,321,893 (GRCm39) |
|
probably benign |
Het |
| Gm12790 |
C |
T |
4: 101,825,268 (GRCm39) |
V49I |
possibly damaging |
Het |
| Gm5444 |
C |
T |
13: 4,884,314 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
T |
2: 132,376,110 (GRCm39) |
Y574* |
probably null |
Het |
| Gss |
G |
T |
2: 155,415,029 (GRCm39) |
N225K |
possibly damaging |
Het |
| Il17rc |
G |
T |
6: 113,459,958 (GRCm39) |
A635S |
probably benign |
Het |
| Lhfpl5 |
T |
A |
17: 28,798,942 (GRCm39) |
D150E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrrc40 |
T |
G |
3: 157,760,206 (GRCm39) |
|
probably null |
Het |
| Ly6f |
A |
G |
15: 75,143,646 (GRCm39) |
T118A |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 16,147,037 (GRCm39) |
N1960D |
unknown |
Het |
| Map3k14 |
T |
C |
11: 103,130,158 (GRCm39) |
H253R |
probably benign |
Het |
| Morc2a |
T |
C |
11: 3,639,084 (GRCm39) |
L1025P |
probably damaging |
Het |
| Nlrc5 |
G |
T |
8: 95,203,321 (GRCm39) |
G474W |
probably damaging |
Het |
| Olr1 |
G |
T |
6: 129,470,572 (GRCm39) |
D198E |
probably benign |
Het |
| Or5b123 |
C |
A |
19: 13,596,874 (GRCm39) |
S116* |
probably null |
Het |
| Or5d14 |
G |
A |
2: 87,880,737 (GRCm39) |
T77I |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,130,317 (GRCm39) |
I66T |
probably benign |
Het |
| Pafah1b1 |
A |
T |
11: 74,575,278 (GRCm39) |
S209T |
probably damaging |
Het |
| Phf14 |
A |
T |
6: 11,961,641 (GRCm39) |
Y426F |
possibly damaging |
Het |
| Phldb1 |
A |
G |
9: 44,615,455 (GRCm39) |
V855A |
probably benign |
Het |
| Pira2 |
T |
G |
7: 3,847,592 (GRCm39) |
R32S |
possibly damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,111,676 (GRCm39) |
I344V |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,539,881 (GRCm39) |
V93A |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,640,098 (GRCm39) |
L186F |
probably damaging |
Het |
| Ralgps1 |
A |
C |
2: 33,048,999 (GRCm39) |
C303W |
probably damaging |
Het |
| Sdr42e1 |
T |
A |
8: 118,390,342 (GRCm39) |
N100Y |
probably damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,503 (GRCm39) |
L96Q |
probably damaging |
Het |
| Slc12a8 |
G |
A |
16: 33,445,288 (GRCm39) |
R448H |
probably benign |
Het |
| Snrpd1 |
T |
A |
18: 10,626,892 (GRCm39) |
V53E |
probably benign |
Het |
| Ssbp1 |
T |
C |
6: 40,454,883 (GRCm39) |
V114A |
possibly damaging |
Het |
| T |
A |
G |
17: 8,655,037 (GRCm39) |
E47G |
probably damaging |
Het |
| Tmem156 |
T |
C |
5: 65,231,111 (GRCm39) |
K189R |
probably benign |
Het |
| Trim47 |
G |
T |
11: 115,998,678 (GRCm39) |
Q314K |
possibly damaging |
Het |
| Vmn2r3 |
G |
T |
3: 64,186,247 (GRCm39) |
P146Q |
probably damaging |
Het |
| Vmn2r6 |
A |
C |
3: 64,464,015 (GRCm39) |
V273G |
probably damaging |
Het |
| Wrnip1 |
G |
T |
13: 32,990,839 (GRCm39) |
R366L |
probably damaging |
Het |
| Zfp981 |
A |
T |
4: 146,621,357 (GRCm39) |
H94L |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATAGAGCCAGTCACCATAGAG -3'
(R):5'- TCCCTTGTTAAGAAGCTTATTCAGTGG -3'
Sequencing Primer
(F):5'- TCACCATAGAGACAGGCAGTGC -3'
(R):5'- GAAGCTTATTCAGTGGCCAGATACC -3'
|
| Posted On |
2017-03-01 |
Incidental Mutation