Incidental Mutation 'R6586:Egfem1'
| ID |
524379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Egfem1
|
| Ensembl Gene |
ENSMUSG00000063600 |
| Gene Name |
EGF-like and EMI domain containing 1 |
| Synonyms |
6130401L20Rik |
| MMRRC Submission |
044710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
29136172-29745358 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 29716560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 343
(C343*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118531]
[ENSMUST00000119598]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000118531
AA Change: C286*
|
| SMART Domains |
Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: C286*
| 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
AA Change: C343*
|
| SMART Domains |
Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: C343*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,639 (GRCm39) |
F265L |
possibly damaging |
Het |
| 9930022D16Rik |
A |
G |
11: 109,308,786 (GRCm39) |
T51A |
unknown |
Het |
| Acaa1a |
A |
G |
9: 119,178,604 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,642,332 (GRCm39) |
S280P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,359 (GRCm39) |
S398P |
probably damaging |
Het |
| Cngb3 |
T |
G |
4: 19,280,946 (GRCm39) |
L5R |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,662 (GRCm39) |
F282L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnm2 |
T |
C |
9: 21,416,942 (GRCm39) |
F825S |
probably benign |
Het |
| Fah |
T |
A |
7: 84,242,468 (GRCm39) |
D280V |
probably benign |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Flg |
A |
T |
3: 93,200,290 (GRCm39) |
|
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
| Mterf2 |
A |
G |
10: 84,955,970 (GRCm39) |
F218S |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,996,899 (GRCm39) |
V868A |
probably benign |
Het |
| Nrip2 |
T |
A |
6: 128,381,911 (GRCm39) |
C85* |
probably null |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or51v14 |
T |
A |
7: 103,261,183 (GRCm39) |
I126F |
possibly damaging |
Het |
| Palm |
A |
C |
10: 79,645,365 (GRCm39) |
N111H |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,772,005 (GRCm39) |
D373G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,059,287 (GRCm39) |
G3540D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,416,197 (GRCm39) |
T567A |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,164,469 (GRCm39) |
Y81C |
probably damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,366 (GRCm39) |
N131K |
probably damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,752 (GRCm39) |
H214Y |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,454 (GRCm39) |
E386G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,952 (GRCm39) |
T164A |
probably benign |
Het |
| Tmco3 |
G |
T |
8: 13,370,894 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,831 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 98,971,093 (GRCm39) |
R206G |
probably benign |
Het |
| Trim60 |
G |
T |
8: 65,453,248 (GRCm39) |
L334I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,560,754 (GRCm39) |
T29216A |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,446 (GRCm39) |
N218I |
probably benign |
Het |
| Vps25 |
T |
G |
11: 101,149,835 (GRCm39) |
V125G |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,911 (GRCm39) |
M83K |
probably benign |
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 |
|
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 |
|
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'- CTCATTATGTGACCAGAGTAGTGG -3'
(R):5'- AGTTCAAGCCACCAAGGTCC -3'
Sequencing Primer
(F):5'- CCAGAGTAGTGGGAAATGGTTAATC -3'
(R):5'- GTCCACATGCCATCACAGAGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation